Richard “Richie” Farrell Jr.

Living with a disability has required me and my parents to rise to meet many challenges, experiencing joys and heartbreaks. All in all, it has been an interesting ride – never a dull moment. We rely upon our Catholic faith for the strength to meet the challenges and setbacks and are always thankful for the blessings we have

I was diagnosed with Becker muscular dystrophy (BMD) when I was five years old. Life became a regular parade of doctor visits, trips to specialists, dealing with schools, and navigating daily life. When I was thirteen, I began using a power wheelchair. My family bought a modified van to transport both me and my grandfather, who also lived with muscular dystrophy.

In May of 2020, life took a turn when I required a feeding tube and enteral nutrition.

Adjusting to life with a feeding tube

My parents and I had to take several steps to adapt to this change in my daily life.  One challenge is managing all of the materials. We order thirty days’ worth of formula, feeding bags, extensions, and tubing – which all takes up a lot of space. Keeping all of this organized is key. Reviewing the monthly shipments as they arrive is important. You cannot assume that they send the right materials every month, so it all has to be inventoried and stored. We have received wrong formula, wrong bags, bags that leak. Paying attention to the dates on the formula and using the oldest dates first is also important. We often receive various dates in one shipment and it is key to use the oldest stock first.

At about the same time that I started using the feeding tube, my medications increased. I also began to take all medications via the tube. The medications must be scheduled carefully so that they don’t overload my intestinal system yet still meet the medication schedule – which is quite a balancing act. On top of this, syringes (enfit system) need to be cleaned and reused. It is a constant cycle of filling and cleaning syringes. About 70 are in use over the course of one week.

We created a spreadsheet with the daily medication schedule, doses, delivery, etc. We update and track the spreadsheet daily to make sure nothing is missed.

Adding to the complexity of managing all of this, many of my medications need to be compounded at home and put in liquid form so they can be injected into the feeding tube system. Most can be done ahead of time, but some need to be prepared immediately before I take them. Again, keeping to the written schedule avoids missed doses.

Managing complex needs while staying active

The other challenge we face is that we are not always at home when I need my meds or feeding formula. I am involved in a lot of groups and activities – through my church, my role as an MDA Ambassador, and other organizations. Maintaining my social life, passions, and commitments is important to me. . We developed a daily system for measuring and storing what I need. Through a system of trial and error, my parents put together a system of packaging and transporting meds and formula when traveling, whether it is just being out and about for the day or going on an overnight trip. Our method is a combination of coolers, ice packs, and insulated lunchbag-style containers with our own alterations to make the bags work. The formula has to be in a temperature-controlled environment, which is why we need the ice packs and the coolers. Since all the packaging is different, we need to keep a variety of sizes of icepacks on hand. We also have an IV pole for traveling, we hang feeding bags or medication from the pole sometimes and other times I keep the feeding bag in my backpack.

The heart of my feeding tube system is the pump. While there are gravity systems, mine utilizes a Moog Infinity Green pump. We use a model with a pump because using a gravity system would require being in a Skilled Nursing/Nursing Home Facility due to the complexity of measuring drops and how fast it goes, and I would be stuck on an IV pole all day. The Pump allows me freedom to remain independent and to keep exploring the world. (I have never used a gravity system, but I do have one for critical emergency situations if the power were to go out for a long period of time.)

It took a bit of time for us to learn how to use pump system and become familiar with the various settings. We have a specially designed backpack that holds the formula, pump and tubing. Because I use a powerchair quite often when I need to walk long distances and for many of my doctor appointments, we need to be able to hang the backpack on the back of my wheelchair.

The tubing has also necessitated alterations for clothing, mostly for semi-formal and formal events. We cut slits into my dress shirts and then stitch them (to keep from tearing) to allow the tubing to be worn with my suit.

Another key to balancing it all is flexibility. At many times activities – church, MDA events, Knights of Columbus events, travel schedules, and social activities – conflict with my medication times, so flexibility is key. We are very fortunate to have good insurance. Between primary employer insurance provided through my parents’ employers and special needs government provided insurance, my parents have been able to provide everything that I need in order to live a robust and independent life. This is not to say there are no out-of-pocket costs. Spring water for formula, replacement syringes for medications, and devices to hold the tubing in place are all expenses my family needs to absorb. My parents help mitigate this cost by using  a Flexible Spending Account through my step-dad’s benefits. This account allows for an amount of money from each pay period to be deducted pretax and then reimbursed as it is spent on medical necessities.

Making it work for us

We do our best to manage all of my needs, stay organized, and stay active while navigating life with a feeding tube. Are our methods perfect? No. Missed meds, complex daily schedules, and lack of facilities when needed can create challenges. It happens. The key is not to panic and to do the best you can.

There are many reasons why this all works for us. When traveling or attending special events, planning is key. Knowing the arrival time, the schedule for the main part of activity, when there are breaks in the activity, etc. all need to be coordinated. My parents and I communicate about what is needed and what issues there are as they come up (supply, insurance, schedules) and we work them out together. We are grounded in our faith and work around church activities and obligations. I want to be able to participate in everything that I am passionate about and a big part of doing that with a feeding tube is staying flexible and understanding that everything is not always going to work out perfectly – and that is okay!

The post MDA Ambassador Guest Blog: Navigating a Busy Life with a Feeding Tube appeared first on Quest | Muscular Dystrophy Association.

Sharon Hesterlee, PhD, MDA President and CEO

On March 9, Sharon Hesterlee, PhD, MDA President and CEO, welcomed more than 2,400 people attending MDA’s annual Clinical & Scientific Conference, both in person at the Hilton Orlando in Florida and virtually. The conference is the largest global gathering of neuromuscular clinicians, researchers, industry partners, advocacy organizations, and community members.

After acknowledging “a new sense of responsibility” in her role as MDA’s leader, Dr. Hesterlee provided an overview of the extraordinary progress and unique challenges facing the neuromuscular field today. Seeing new scientific technology translated into approved drugs and therapies that can make a real difference in the lives of people living with neuromuscular diseases is deeply satisfying, she said, but it also raises new questions and barriers as the science outpaces the infrastructure to approve and deliver therapies.

“That reality places responsibility on all of us,” Dr. Hesterlee said. “It’s incumbent on this community not just to advance science but to work together to align scientific progress with the institutions and systems that might stand in the way.”

This is where she sees MDA playing a vital role. “For more than 70 years, MDA has served as a convenor, bringing together groups like this,” she said. “That role has never been more important than it is today.”

Meeting challenges with hope

MDA National Ambassador Lily Sander

The importance of overcoming challenges was exemplified by MDA National Ambassador Lily Sander, who invited the audience of neuromuscular experts to walk in her shoes. “When was the last time you felt completely exhausted — not just tired after a long day, but the kind of exhaustion that settles deep into your bones?” she asked.

The high school senior described her experience of living with fatigue as a symptom of Charcot-Marie-Tooth disease (CMT). “My mind pushes forward, eager to do more; my body asks me to pause. That tension shapes daily decisions in ways that many people never have to think about,” she said. Yet fatigue, being an invisible symptom, is often misunderstood.

By sharing her experience, Lily hoped to impress upon conference attendees the importance of listening to the people most affected by their work.

“Accessibility is not simply about removing barriers. It is about creating pathways — pathways that allow patients not only to receive care, but to help shape the future of that care, and one of the most powerful ways to create those pathways is by listening to the voices of the patients themselves,” she said. (Watch Lily’s speech.)

Next, John Crowley delivered the conference keynote address. In his role as President and CEO of the Biotechnology Innovation Organization (BIO) and a founder of two biotech companies, John brought a national leadership view on innovation and the path ahead for the neuromuscular field. In his role as father to two children with early-onset Pompe disease, John brought a very personal perspective.

His family’s story of fighting for the development of the first enzyme replacement therapy (ERT) for Pompe disease was dramatized in the film “Extraordinary Measures.”

John Crowley, President and CEO of the Biotechnology Innovation Organization

“In many ways, the film was a vehicle for our family to be a proxy for the many families, children, and adults living and thriving in the world of rare diseases … and to show in one family’s journey what it takes to live, to thrive, to navigate a very complex system to make newer and better medicines,” he said.

After his children were diagnosed, John left his job at Bristol-Myers Squibb to co-found Novazyme Pharmaceuticals, later acquired by Genzyme Corporation, where he helped advance experimental science that led to the first ERT for Pompe. He took a risk and argued that risks are sometimes necessary in the rare disease world.

Today, the challenges to taking those risks often have to do with the infrastructure around research funding and healthcare. “We’ve never had more technologies than we have today. … Lord knows we have enough unmet need … There’s lots of capital available. So why are we struggling?” he asked.

His answer: “There’s too much uncertainty in science, too much uncertainty in the regulatory process. And after [a biotech company goes] through all of that, runs that gauntlet, now we have the uncertainty and confusion and complexity of making sure that our inventions are paid for and that patients have 100% access to these medicines.”

To overcome these challenges, John described a “virtuous circle” of academic research, government agencies like the National Institutes of Health, advocacy organizations like MDA, small biotech companies, entrepreneurs, and late-stage investors working together to promote innovation and access.

In his leadership role at BIO, John regularly speaks with regulators and lawmakers in Washington, DC. He’s found bipartisan support for removing barriers to developing therapies and increasing access to them for the people who need them. He feels optimistic about the future. (Watch John’s keynote address and conference highlights.)

The opening morning of the conference also included three award presentations recognizing people who are making an impact in the neuromuscular field. Read MDA Awards Honors Those Driving Progress in Neuromuscular Research and Care to learn more about this year’s awardees.

Education and idea sharing

The three-day conference features a packed agenda of more than 30 sessions, with some of the world’s foremost experts in neuromuscular disease exploring bold new ideas to improve the lives of people living with neuromuscular diseases.

Attendees exploring and discussing scientific poster presentations.

Afternoon sessions provided conference attendees with the latest information on topics ranging from innovative technologies (e.g., Beyond 2D: Utilizing Curi Bio’s 3D Engineered Muscle Tissues for Predictive Disease Modeling) to practical knowledge about coordinating healthcare (e.g., The Role of Psychology in Supporting Patients & Families Receiving Gene Therapy).

The Exhibit Hall and Poster Sessions also gave attendees the chance to explore more than 500 research posters and connect with fellow clinicians and researchers to spark new conversations and collaborations. On Wednesday, the conference will feature 63 oral abstract presentations showcasing emerging research.

This year’s conference highlights MDA’s role as a convener, bringing together people from all areas of the neuromuscular field — from drug researchers working in laboratories to doctors and therapists caring for people with neuromuscular diseases — to learn about the real-world impact of their work and share visions for the future.

2026 MDA Clinical & Scientific Conference by the Numbers

2,020 in-person attendees

403 virtual attendees

40 countries represented

195 speakers

32 sessions

63 oral abstract presentations

500+ research poster presentations

27 Patient Advocacy Pavilion participants

The post 2026 MDA Clinical & Scientific Conference Opening Highlights the Power of Collaboration appeared first on Quest | Muscular Dystrophy Association.

The study

This is an open-label, dose-ranging study, which means that all participants will receive one of four doses of MyoPAXon treatment, ranging from a low dose to a high dose. The goal is to determine the optimal dose for use in future studies. Participants will be started on tacrolimus one week prior to MyoPAXon administration and will then receive a single injection of MyoPAXon. They will then receive twice a day maintenance doses of tacrolimus for three months. Participants will be required to attend 5-10 clinic visits during the three-month study and monitored for an additional 15 years.

MyoPAXon will be administered through a one-time intramuscular (in the muscle) injection. The effects of the therapy will be evaluated using a number of tests and procedures including but not limited to blood testing for donor-specific anti-HLA antibodies and cellular response.

Eligibility criteria

To be eligible, individuals must meet the following inclusion criteria:

• Have DMD, diagnosed by mutations in the DMD gene and/or absence of immunohistochemical staining for dystrophin on muscle biopsy
• Non-ambulatory
• Intact extensor digitorum brevis (EDB) muscles bilaterally
• Off investigational therapies for > 30 days
• Age 18 years of age or older at the time of consent
• Have adequate organ function within 14 days prior to enrollment (28 days for cardiac and pulmonary function)
• If applicable, willing to use at least two forms of effective birth control while receiving the study product and for 3 months after stopping tacrolimus therapy
• Ability to follow commands sufficiently to perform voluntary aspects of outcome measures
• Willing to consent to monitoring for 15 years, including an extension period
• Voluntary written consent from the subject or parent(s)/guardian(s)
• Additional study criteria

Individuals may not be eligible to participate if they are affected by another condition or receiving another treatment that might interfere with the ability to undergo safe testing.

Please visit this link for more detailed listing of inclusion and exclusion criteria.

Interested in participating?

To learn more about the study or inquire about participation, visit the sponsor’s trial website or contact the study coordinator by email at [email protected].

The post Clinical Study Alert: Phase 1 Study of MyoPAXon in Boys with DMD appeared first on Quest | Muscular Dystrophy Association.

With so many valuable podcasts, blog articles, and magazine articles available to our audience, chances are that you may have missed one or two pieces of interesting content. Check out the summaries and links below.

In case you missed it… Quest Product Guide:

The Spring Quest Product Guide is Here!

This guide is designed to help you find tried-and-true products that make life more independent, stylish, and fun. All of the products that you see here were chosen by MDA Ambassadors, who shared exactly how each product helps them in their daily lives. From fashion and tech to daily tools, hobbies, and home goods – there is something for everyone. Read more. 

In case you missed it…Quest Blog:

Recent Updates with Section 504

Here’s what you need to know to understand current threats and challenges to Section 504 of The Rehabilitation Act, which prohibits disability discrimination in programs receiving federal funding. Read more.

In case you missed it… Quest Podcast:

Episode 60: Fashion for Every Body: Izzy Camilleri on Style, Function, and Inclusion

In this Quest Podcast episode, we chat with internationally recognized fashion designer Izzy Camilleri, a true pioneer in adaptive fashion. She shares how her successful career in high-end fashion took a transformative turn when she began designing clothing for people with disabilities and partnered with Silverts—work that helped ignite today’s adaptive fashion movement. Izzy shares how to balances style with function, the importance of universal design, and the meaningful progress that the fashion industry has (and hasn’t) made toward true inclusion. Izzy shares her experiences, expertise and advice when it comes to what the future holds for adaptive apparel, customization, and technology as she shines a light on the power of fashion to help people feel seen, confident, and fully themselves. Listen here.

In case you missed it…Quest Magazine 2026, Issue 1:

Quest Magazine 2026, Issue 1 is Here!

The first issue of Quest Magazine for 2026 is here! Read up on RNA therapies, genetic testing, clinical trial readiness, insurance, research updates, community member milestones, and more. Read more.

The post In Case You Missed It… appeared first on Quest | Muscular Dystrophy Association.

Stephanie posing in front of a colorful artistic street mural.

Being diagnosed with a rare muscle disease at 13 years old changed my perspective on the world and how I view myself in it. As I came to understand the disabled identity and all that comes with it, I came to understand myself better. Pre diagnosis, I knew I was different and I often felt like I had a different mindset than my peers. Once I was diagnosed with SELENON, I came to learn important aspects of my disabled identity and the world that was not built for us. I came to meet people that are welcoming, caring, and inclusive. And I came to know the importance of accessibility in its many different forms for different disabilities. With the acceptance and understanding of my identity, I redefined how I view myself.

As someone with a chronic illness and disability, I face symptoms every single day. Every day looks different to me, and I adapt to what I am facing with every new day. How I manage my time and energy becomes a crisis aversion plan. I overthink how I do things, when I can do things, or if I can do things. My priorities are kept in check every day.

Balancing needs and values

Having the mindset of keeping my hierarchy of needs met has helped me stay in tune to my values, morals and subsequently, away from drama.

As someone with a rare form of muscular dystrophy, my body reminds me every day how to take care of it. My weakened diaphragm reminds me to take deep breaths, my slow digestive system reminds me to eat well, and my already tired body reminds me to get a good night’s sleep. Having a good support system, access to good doctors, an accessible home, and the correct devices for me are intrinsic for survival.  As long as those needs are met then all other areas of my life run smoothly. It becomes easier to handle other areas of my life when the most important areas are taken care of.

Stephanie enjoying a day in the mountainside of Virginia

Sticking to my values has helped me stay away from societal expectations and pressures.

A few principles that have helped me live my best life are staying authentic, leaning into the power of vulnerability, having empathy, and continuously working on my inner peace. Becoming aware of how rare my disease is has helped me understand that I need to prioritize living in alignment with my true self. Society already reminds me how different I am and – yeah, they’re right, but I am my own person. I will continue to advocate for my needs and stay true to myself. While being vulnerable is hard, it has led me to have great connections for continuing to be who I am. It feels great to be myself and to be loved and accepted for who I am. Being authentic helps others be themselves too. I care about being authentic because it helps those around me feel like they can be themselves too. Helping others feels safe and hoping that that feeling continues on through others inspires me to continue being me.

Stephanie at a volunteer event for Make a Wish

And since I do feel different from the norm, I have great empathy and compassion for others. Once you go through your own battles, you are reminded of how no one is exempt from hardship. As Robin Williams said, We all face battles that others might know nothing about, so it’s best to extend compassion for others as you would want extended to you. Having greater empathy offers more understanding and harmony. The more peace and harmony I have in my life and try to achieve every day, the more I feel like I can handle anything thrown at me. Handling things with peace is essential to me. While I do let myself express all of my emotions because I don’t want to bury anything and have it affect me physically, I also try to remain peaceful because doing so positively affects my health. Getting stressed or worked up over various things only makes my symptoms worse. Finding peace and harmony wherever I can, however I can, helps me cope with whatever life throws at me.

I decide what works best for my life and how I want to live it. It is a helpful tool when I think of it –  how my body reminds me of what is truly important. My health always comes first and as long as I have the tools and support to take care of that, then I can better manage everything else with a level head.

Gaining confidence and staying true to myself

The confidence that I have gained since being diagnosed has increased exponentially as I find more self-acceptance, self-assurance, and freedom. As a patient who is familiar with advocating for health needs and navigating the health care system, I have grown to be more confident in knowing what is best for me and how to maneuver difficult situations. Women like me, who are living with neuromuscular diseases, become experts in our own care. We are resourceful in coming up with solutions and seeking help from the right people to receive the care we deserve. The self-advocacy that is required to manage our care only makes us that much more powerful. Being confident in my truth and in who I am has grown as I navigate life as a woman with a disability.

Stephanie at MDA’s On the Hill advocacy event in Washington, DC

Staying true to our values and gaining confidence truly aids in how authentic we are in our lives. Owning the disabled identity and getting rid of expectations from a world that wasn’t built for us boosts that authenticity. With the communication required to navigate caregivers, insurance companies, and medical staff, we become really good at expressing our thoughts openly and honestly. Living in a body that has weaknesses and coming to accept it helps us to embrace our different life for what it is. Our lives are not less than or something to be pitied but are just different. Although we may need help with physical tasks, we are very much skilled in other ways that are just as useful.

The post MDA Ambassador Guest Blog: Redefining How I View Myself appeared first on Quest | Muscular Dystrophy Association.

The study

Individuals with refractory IIM may be eligible to participate in a phase 2 clinical trial (AUTOGRAPH-IIM) evaluating the safety and effectiveness of the investigational drug rapcabtagene autoleucel. This drug is a cell-based therapy (a CAR T-cell therapy) designed to target and eliminate B-cells, which contribute to autoimmune activity in IIMs. The study aims to determine if rapcabtagene autoleucel is effective and safe compared to currently available treatment options in people with IIM who have not responded to previous treatment.

This is a randomized, open-label, controlled study, meaning that participants will know whether they have been randomly assigned to the group receiving rapcabtagene autoleucel or to the comparison group receiving standard-of-care treatments. Participants receiving the study drug will begin with a 2-week hospital stay, followed by frequent visits that gradually space out from weekly to monthly, then to every 7–12 weeks, and eventually every 6 months through year five. Those in the standard-of-care arm will follow the same long-term schedule but without the initial hospitalization and with fewer early visits.

Rapcabtagene autoleucel is administered by a single intravenous (in the vein) infusion. The effects of the drug will be evaluated using a number of assessments including but not limited to: physical examination, body weight, body temperature, blood pressure, pulse rate, respiratory rate, pulse oximetry, blood sample, urine sample, questionnaires, electrocardiogram (ECG), and pregnancy test.

Study criteria

To be eligible, individuals must meet the following inclusion criteria:

• Men and women, aged >18 and ≤75 years, with a diagnosis of probable or definite myositis
• Inadequate response to prior therapy
• Diagnosed with active disease
• Meet criteria for severe myositis

Individuals may not be eligible to participate if they are affected by another condition or have received another treatment that might interfere with the ability to undergo safe testing.

Please visit this link for the full listing of inclusion and exclusion criteria.

Interested in participating?

To learn more about the study or inquire about participation, please contact the study coordinator at the closest study site listed here or visit the sponsor’s trial website.

The post Clinical Research Alert: Phase 2 Study of Rapcabtagene Autoleucel in Individuals with IIM appeared first on Quest | Muscular Dystrophy Association.

2026 MDA Legacy Award for Achievement in Clinical Research: Michio Hirano, MD, Columbia University Irving Medical Center, New York

Michio Hirano, MD

As a global leader in translational neuromuscular research and a longtime partner to MDA, Dr. Hirano’s pioneering work has increased understanding of what causes certain diseases — including early innovations in mitochondrial disease research that helped shape modern approaches to precision medicine.

“I have been very fortunate to work during a period of breathtaking advancements in neuromuscular diseases over the last three-plus decades,” Dr. Hirano says. “Together with multiple laboratory and clinical colleagues, our research team at Columbia has contributed to the field by identifying the genetic causes and investigating the molecular pathways leading to several mitochondrial neuromuscular diseases.”

As a career highlight, Dr. Hirano points to his work that led to the recent US Food and Drug Administration (FDA) approval of the first therapy for thymidine kinase 2 deficiency (TK2d), a very rare mitochondrial myopathy. “This work has fulfilled a longstanding dream of taking a concept in the laboratory to improve the lives of patients with a debilitating neuromuscular disease,” he says.

Dr. Hirano’s leadership in mitochondrial disorder research and his commitment to families living with neuromuscular conditions have cemented his legacy as one of the field’s most influential voices.

“Working with MDA, patients, and their families, and with colleagues in the neuromuscular disease community, has not only opened my eyes to the huge unmet needs of these serious disorders, but has also enabled collaborative efforts to address those needs,” he says. “I am particularly grateful to the patients and families who have placed their trust in our efforts.”

2026 MDA Donavon Decker Legacy Award for Community Impact in Research: Allison Moore, Founder & CEO, Hereditary Neuropathy Foundation (HNF)

After her diagnosis with Charcot-Marie-Tooth disease (CMT) as a young adult, Allison founded the HNF. She has since built it into an internationally respected organization centered on advocating for people living with CMT and reshaping the scientific landscape for inherited neuropathies.

Allison Moore

From their first research project in 2007, the HNF was dedicated to listening to people living with CMT. “That was before you heard people talking about bringing the patient voice into research, but we did it, and that set the tone for how we were going to conduct research,” Allison says.

Under Allison’s leadership, the HNF has launched several initiatives aimed at advancing clinical trial readiness, expanding multilingual diagnostic tools, and driving meaningful cross-sector partnerships:

• Therapeutic Research in Accelerated Discovery (TRIAD) develops partnerships between biotech and pharmaceutical companies, academic researchers, and regulatory agencies.
• The Global Registry for Inherited Neuropathies (GRIN) houses patient data to help researchers better understand CMT.
• The CMT Biobank offers GRIN patient registrants the opportunity to participate in innovative and translational research to accelerate CMT therapies.
• Developing CMT cell and animal models allows researchers to test viable treatment approaches.
• Exploring the use of digital health technologies to track changes in symptoms and develop outcome measures for clinical trials.

Allison’s vision is driving innovation and collaboration in the CMT field.

“I just appreciate it so much, getting the validation from MDA that we’ve built something wonderful and that we’re making an impact,” she says of receiving the award. “I think it gave us even more credibility.”

Inaugural MDA Research Momentum Award: Łukasz Sznajder, PhD, Assistant Professor at the University of Nevada, Las Vegas (UNLV)

The Research Momentum award honors early-career investigators whose innovative, high-impact work is shaping the future of neuromuscular research.

Łukasz Sznajder, PhD

Dr. Sznajder is an expert in molecular genetics, with a particular interest in hereditary neuropsychiatric and neuromuscular disorders. At UNLV, he has been conducting pioneering research to uncover the mechanisms underlying neuromuscular and neuropsychiatric disorders. In 2025, he published a scientific paper on the connection between autism spectrum disorder and type 1 myotonic dystrophy (DM1).

“I’m really interested in the connection between neurodevelopmental disorders and neuromuscular disorders,” he says. “With something like congenital myotonic dystrophy, which is the most severe form of myotonic dystrophy, the same or similar genetic mutation, just different timing, probably makes the disease that we typically consider a muscular disorder into a neurodevelopmental disorder.”

Beyond his scientific innovation, Dr. Sznajder has demonstrated independent leadership and a commitment to collaboration and mentorship.

“Educating future professionals is a really important part of my work,” he says. “A lot of the challenges that we are facing right now are probably bigger than one generation.”

Dr. Sznajder notes that this award will signal to others that his research is worth supporting. “I hope for that because research is a huge investment, and it mostly relies on other people supporting researchers.”

MDA’s Legacy and Momentum awards will be presented at the opening session of the 2026 MDA Clinical & Scientific Conference in Orlando, Florida, on March 9, 2026.

The post MDA Awards Honors Those Driving Progress in Neuromuscular Research and Care appeared first on Quest | Muscular Dystrophy Association.

The study

This is an observational study and does not involve a new intervention. Enrolled participants will be asked to provide informed consent over the phone and will then receive a one-time visit by a mobile phlebotomist who will perform a blood draw on both enrolled female carrier of DMD/BMD and her affected or unaffected child (in some cases a cheek swab for the child will be accepted). The study team will also request participant health request records, which may take several weeks to obtain.

Study criteria

To be eligible, individuals must meet the following inclusion criteria:

• A carrier female with a biological affected or unaffected child.
  • Eligible female carriers – Must reside in the United State, be 18 years or older, have screened positive as a carrier for one or more inherited genetic conditions, are not currently pregnant, and are able and willing to sign informed consent.
  • Biological child – Must reside in the United States.
    • Children who are 17 years or younger – Able and willing to provide assent, when applicable and weigh 10 kg (22 lbs) or higher if a blood sample is collected.
    • Adult >18 biological child/children – Able and willing to sign informed consent.

Individuals may not be eligible to participate if they do not meet the criteria of a dyad sample (carrier female and biological child).

Interested in participating?

To learn more or inquire about participation, visit the sponsor’s website or contact the Study Coordinator by phone: 650-674-4662 or email: [email protected].

The post Clinical Research Alert: Observational Study in Female Carriers of DMD/BMD and Their Biological Children appeared first on Quest | Muscular Dystrophy Association.

LGMD is a diverse group of disorders with many subtypes categorized by the gene mutation and inheritance pattern. Together, the disorders that constitute LGMD are the fourth most common genetic cause of muscle weakness.

Identifying gaps

“Companies were starting to develop gene replacement therapies for several of the LGMDs,” Dr. Statland says. “We knew that they were working on gene replacement for most of the recessive LGMDs, and we realized we didn’t have very much natural history data.”

Without this natural history data, which shows how a disease or subtype typically progresses, researchers wouldn’t truly know if their therapy was altering the disease course.

“If there are subgroups who have different trajectories, how are you going to tell if the drugs are working? What are you going to measure?” Dr. Statland asks.

He also notes that sponsored genetic testing programs, offered at no cost through MDA Care Centers, have increased access to genetic testing. But as more genetic testing was performed, more people received results indicating variants of unknown significance (VUSs).

“Somewhere between 50% and 60% of patients will have at least one VUS, so a real gap in the field was a pathway for resolving these variants,” he says.

Finding a solution

The solution was to form the GRASP-LGMD Consortium in 2018, a network of researchers and organizations working together to develop trial endpoints and prepare sites for potential gene therapy trials for LGMD.

“We put this network together to build those tools, biomarkers, and clinical trial outcomes to understand what happens to groups that have different trajectories, and then to find a pathway to resolve people who don’t have genetic certainty yet,” Dr. Statland says.

“Often you need a collection of investigators that are capable of seeing patients close to where they are to reduce burden with people with limited travel capacity,” adds Dr. Johnson, one of the original founders of the consortium. Currently, MDA, the LGMD2i Research Fund, and CureLGMD2i Foundation are co-funding the GRASP-LGMD Consortium, along with NINDS, Sarepta Therapeutics, ML Bio Solutions, and Edgewise.

The project evolved from a few centers to 15-20 in the US and internationally. It focused on developing natural history data, biomarkers, and tools to resolve genetic variants of unknown significance. The network, including the facioscapulohumeral muscular dystrophy (FSHD) and myotonic dystrophy networks, has facilitated large-scale clinical trials and real-world study designs.

“Our goal is to reduce barriers across those LGMDs so there’s not a question about what the natural history of the disease is or what the end points would be to incentivize drug development in those disorders,” Dr. Johnson says.

Critical support

Last year, MDA awarded a Clinical Research Network Grant to Dr. Statland to help GRASP-LGMD consolidate the administration of clinical trial networks where they overlap for myotonic dystrophy, FSHD, and LGMD. “Much of the way we organize these networks is similar, so it made it easy to consolidate,” Dr. Statland says.

The LGMD2i Research Fund and CureLGMD2i then provided additional funding at the end of 2025 to lower the cost of managing clinical trial sites. “Patients with LGMDs are facing a dearth of therapeutic options,” says Jean-Pierre Laurent, Director of the LGMD2i Research Fund. “It is critical that efforts to facilitate the development of these options be coordinated and done by experts in these conditions. We hope that, by completion of this grant, we will have significantly supported these efforts.”

Virginia Commonwealth University (VCU) serves as the central coordinating site for the GRASP-LGMD Consortium, under the direction of Dr. Johnson. Dr. Statland serves as the clinical research liaison. The biorepository is under the direction of Dr. Weihl at Washington University.

“We run the central coordinating center and the data management center,” Dr. Johnson says. “The data is deposited at VCU, we steward it, make sure it’s of appropriate quality, then share it with interested parties like pharmaceutical companies or biotech. As a clinical coordinating center, our goal is to identify sites close to where patients live and fully enroll these trials. If we can enroll patients in natural history studies, that’s a strong sign to drug developers that this is a disease that’s of interest to people.”

Support from MDA and other organizations has been crucial for maintaining and training coordinators and evaluators, accelerating drug development for muscular dystrophies.

The post Research Network Supports Limb-Girdle Muscular Dystrophy Treatment Development appeared first on Quest | Muscular Dystrophy Association.

The study

People who have generalized myasthenia gravis (gMG) may be eligible to participate in a phase 2 clinical trial (SYNAPSE-MG) to evaluate the safety, efficacy, and duration of effect of the investigational therapy NMD670 to treat gMG. NMD670 targets skeletal muscle and is designed to enhance muscle activation with the goal of restoring and maintaining muscle function. It is being evaluated for the ability to improve muscle strength, power, and endurance, and to decrease some types of fatigue in people with gMG.

This is a phase 2, double-blind, placebo-controlled study, which means that participants will be randomly assigned to receive doses of the study drug (one of three possible dose levels) or an inactive placebo control. The study will be approximately 8 weeks in duration. During this time, participants will attend 6 in-person study visits, which will include a screening visit, a baseline visit 3-4 weeks later, and then weekly visits until the end of the study. Importantly, patients receiving gMG therapy can continue it as planned and receive NMD670 in addition.

The drug will be administered orally (by mouth) two times a day. The effects of NMD670 will be evaluated using a number of assessments including but not limited to: QMG score and MG-ADL, dynamometry + physical examination, and several questionnaires on the quality of life and fatigue.

Study criteria

To be eligible for the research study, individuals must meet the following inclusion criteria:

• Adults aged 18–75
• Those with a confirmed diagnosis of gMG with a positive antibody test for AChR or MuSK autoantibodies
• Those who are able to take tablets by mouth

Individuals may not be eligible for the research study if they meet the following exclusion criteria:

• Active or untreated thymoma
• Ongoing psychiatric disorders
• Other (cardiovascular, renal, gastrointestinal, etc.) chronic untreated conditions that may prevent from study compliance according to the Principal Investigator

Please visit this link for the full listing of inclusion and exclusion criteria.

Interested in participating?

To learn more about the study, please email the study coordinator at [email protected] or fill in this form https://nmdclinicaltrials.com/clinical-trials/synapse-mg/

The post Clinical Research Alert: Phase 2 Study of NMD670 in Adults with Generalized Myasthenia Gravis (gMG) appeared first on Quest | Muscular Dystrophy Association.

A Decade of Progress

Neuromuscular diseases are a diverse group of conditions that impair the muscles and the nerves that control them, affecting a person’s ability to walk, lift their arms, breathe, or speak. Some begin in childhood, others emerge later in life, and most are progressive. While individually rare, together they represent both a substantial public health burden and a significant opportunity for medical advancement.

Over the past decade, rare disease drug development has advanced at an unprecedented pace. More than 30 therapies have now been approved for neuromuscular conditions alone, reflecting major scientific breakthroughs alongside policy frameworks designed to encourage innovation for smaller patient populations. Advances in gene sequencing, RNA-based therapies, and biomarker development have expanded what is scientifically possible. Researchers can now identify disease-causing mutations more precisely, track disease progression more sensitively, and design therapies that target the underlying biology of individual conditions.

Progress, however, is measured by more than regulatory approvals alone. Improvements in clinical trial design, patient-reported outcome measures, and natural history studies have transformed how neuromuscular diseases are studied. These advances make it possible to detect meaningful changes in small patient populations and to evaluate therapies more efficiently and ethically. Diseases that once had no research pipeline now have multiple therapeutic strategies under investigation, while conditions with early treatments are seeing second- and third-generation approaches aimed at improving durability, safety, and access.

Despite this momentum, developing therapies for rare neuromuscular diseases remains a long and complex journey. The path from discovery to approved treatment is rarely linear. Setbacks are common, and success depends on sustained collaboration among scientists, clinicians, patients, advocacy organizations, and funders. Without consistent support, promising lines of research can stall before they ever reach the people who need them most.

Today, the field stands at a critical inflection point. Advances in genomics, RNA biology, imaging, and data science are converging, creating unprecedented opportunities to translate basic discoveries into meaningful therapies. Fully realizing this potential requires sustained investment across the entire research ecosystem from foundational science that uncovers disease mechanisms, to long-term natural history studies, to clinical research infrastructure capable of supporting small and geographically dispersed patient populations. Equally important is investment in people. Training and retaining the next generation of scientists, clinicians, and trialists is essential for translating innovation into patient care. Rare neuromuscular diseases demand specialized expertise, and building that expertise takes time, mentorship, and stability.

As we approach Rare Disease Day on February 28, 2026, this moment calls for both celebration and action. Nowhere is this more evident than in the expansion of newborn screening. For families facing progressive neuromuscular diseases, time is the most precious currency, measured in muscle strength, respiratory capacity, and the ability to walk, breathe, or swallow independently. The recent addition of Duchenne muscular dystrophy (DMD) to the Recommended Uniform Screening Panel (RUSP) marks a historic milestone. Duchenne is a devastating genetic condition that leads to progressive muscle degeneration beginning in early childhood. Detecting the disease at birth, before symptoms appear, allows families and clinicians to intervene earlier, preserve function longer, and improve long-term outcomes.

The science supporting early detection is clear. Early genetic diagnosis enables timely access to therapies, clinical trials, and standards of care that are increasingly effective when initiated before irreversible muscle damage occurs. Today, families living with Duchenne have access to multiple FDA-approved therapies, with many more in development.

Newborn screening has already demonstrated its life-saving potential in other neuromuscular diseases, including spinal muscular atrophy (SMA). Once the leading genetic cause of infant mortality, SMA has been transformed by early screening and treatment. A recent FDA approval of a new SMA therapy further expands options for patients across age groups and disease stages, reinforcing what the rare disease community has long known: early diagnosis paired with rapid access to treatment saves lives.

Gene therapy is also reshaping the rare disease landscape. Advances in gene replacement, gene editing, and RNA-based approaches are opening new possibilities for conditions once considered untreatable. Today, hundreds of active clinical trials are underway in neuromuscular diseases, many building on decades of foundational research.

The Muscular Dystrophy Association (MDA) has played a central role in this progress. For more than 70 years, MDA has invested in basic, translational, and clinical research, often long before commercial interest emerged. That sustained commitment recently culminated in the FDA approval of the first treatment for thymidine kinase 2 deficiency (TK2d), an ultra-rare and life-threatening mitochondrial disease. The therapy traces its roots directly to MDA-funded research, demonstrating how early, mission-driven investment can ultimately deliver lifesaving treatments to patients with the rarest of conditions.

Yet progress is not guaranteed.

Behind every breakthrough in rare neuromuscular disease research is a community: patients who volunteer for trials, families who advocate in Washington, clinicians who translate science into care, and researchers who persist through the inevitable setbacks of discovery science. Public investment through NIH funding and thoughtful policy incentives like the Rare Pediatric Disease Priority Review Voucher Program that was just reauthorized for five more years, amplifies these efforts, turning individual dedication into collective progress.

On Rare Disease Day, we are reminded that rarity does not diminish importance. Neuromuscular disease are one example of how rare diseases can help illuminate the future of medicine, demonstrating how precision science, patient partnership, and sustained investment can transform lives. The challenge, and the opportunity, is to now ensure that this momentum continues and reaches every rare disease patient, no matter how rare their condition may be.

For more information, support, and guidance for people diagnosed with a neuromuscular condition, please contact the MDA Resource Center.

To learn more on research developments, the 2026 MDA Clinical & Scientific Conference, held March 8-11, 2026, will explore the latest research and clinical advancements for neuromuscular disease in the era of treatments. For additional information and to register, click here.

Source links:

• https://www.mda.org/care/mda-resource-center
• https://www.mda.org/get-involved/advocacy
• https://www.mda.org/press-releases/us-department-of-health-and-human-services-adds-duchenne-to-recommended-uniform-screening-panel
• https://www.mda.org/press-releases/mda-calls-fda-approval-of-novartis-itvisma-a-major-step-forward
• org/SupportNIH

The post Rare Disease Day: Momentum in Neuromuscular Diseases is Building, but Progress Depends on Sustained Investment appeared first on Quest | Muscular Dystrophy Association.

As an additional treat for you, our friends at Silverts and IZ Adaptive are offering a limited-time 15% discount on purchases over $50 for the MDA community! For Silverts, shop here, and for IZ Adaptive, shop here for your discounts. 

Thank you, Silverts and IZ Adaptive!

Read the interview below or check out the podcast here.

Mindy Henderson: Welcome to the Quest Podcast, proudly presented by the Muscular Dystrophy Association as part of the Quest family of content. I’m your host, Mindy Henderson. Together we are here to bring thoughtful conversation to the neuromuscular disease community and beyond about issues affecting those with neuromuscular disease and other disabilities and those who love them. We are here for you to educate and inform, to demystify, to inspire and to entertain. We are here shining a light on all that makes you, whether you are one of us, love someone who is or are on another journey altogether. Thanks for joining now. Let’s get started.

Our guest today is Izzy Camilleri, an internationally recognized fashion designer and a true pioneer in adaptive design. Izzy first made her mark in the world of high-end fashion dressing celebrities, and building a celebrated design house, known for its craftsmanship and style. But her career took a powerful turn when she began to designing clothes for people with disabilities, work that helped spark the modern adaptive fashion movement. Through her designs and her partnership with Silverts, Izzy has helped make clothing more accessible, more functional, and more dignified for people of all abilities, while also challenging the fashion industry to think differently about inclusion. Izzy, thank you so much for being here.

Izzy Camilleri: Thank you for having me.

Mindy Henderson: Absolutely. So I’m going to dive right in. There’s so much that I would like to ask you. First of all, let’s talk about your career as a high-end fashion designer. Can you tell us about just your journey, your early journey in fashion, and what drew you into the world in the first place?

Izzy Camilleri: Well, we can go way back. When I was a little girl, my mom taught me how to sew when I was a kid, and I really enjoyed it and took it up as a hobby, and then it was a hobby that turned into, I went to college for fashion and graduated and then just started freelancing. And my freelancing just … Wouldn’t say exploded, but I got pretty busy and before I knew it, I was in the Canadian fashion industry at a very young age because it all happened very fast. And so I just started doing that. And it was easier to do higher-end things because I wasn’t mass-producing, I couldn’t really get things at cheaper prices, for example. So by doing it higher end, I was able to ask a decent price for what I was doing. So that’s how it all started a nutshell.

Mindy Henderson: Yeah. Well, and your work is beautiful.

Izzy Camilleri: Thank you.

Mindy Henderson: I am excited that in the world of adaptive fashion, you don’t always see … In history, you don’t always see the cutest designs, and a lot of it started out as being a little bit clinical and a little bit … It wasn’t really on trend and all of that. I love that someone like you got the bug to move into the adaptive world. How did that happen?

Izzy Camilleri: In around 2005, a woman who’s a journalist and worked at our major newspaper here in Toronto asked the fashion editor who she would recommend because she was looking for a shearling cape that could work with her wheelchair. So this woman was quadriplegic and she had a service dog that she would take out for walks. So she wanted something that was going to be easy to put on, keep her super warm, easy to take off as well. So the fashion editor recommended me only because she wanted the cape. She wanted a cape and she wanted it in shearling. And shearling is like a fur leather material, natural material. And at the time, I was doing fur and leather as well as other textiles in my collection. So that’s really the only reason why the fashion editor recommended me.

So I met with her and talked about what this cape needed to be, and so we made it, it turned out great, and then I started doing more things for her. And then I just started realizing all the challenges she had with clothes. And I had no idea that these challenges existed because it was never in my world, even on a personal level. I didn’t know anybody at the time that used a wheelchair. And if I knew anybody with a disability, I just didn’t realize how limited their choices were, how difficult it was to get dressed, et cetera, et cetera. So that was the seed that was planted that got me excited about solving some problems in that area.

Mindy Henderson: I love it. And when you did first begin working in adaptive fashion, what gaps or unmet needs did you see specifically that really convinced you why this work is so important?

Izzy Camilleri: Well, I guess when I was working with this woman initially, I just started realizing if she’s got all these problems with clothes, there’s got to be a lot of other people there with the same problems. So that was the first step into digging deeper, I guess. And then as I worked with her, I came to understand that she can’t dress herself. She can’t raise her arms. She clearly needs other people to dress her and take care of most of her needs from a physical perspective. So because she was a wheelchair user, I just started thinking about clothing from a seated perspective and how challenging that could be and how uncomfortable traditional clothing would be because traditional clothing is made for standing, and it’s even designed for standing. Things are designed so they have hanger appeal, so they look good on a hanger. So you think of a coat, it looks great on a hanger, but if you sit down on a long coat, it gets all jumbled up. Or for her, she couldn’t stand up to tuck a coat underneath her. So these are all the things that started percolating I guess in my mind, just thinking of the challenges that existed that I didn’t think anything of it.

Or even where people tend to buy clothing that’s a little bit too big for them so that it’s easier to get dressed and then that’s just going to make you maybe look a bit sloppy or just not … Let’s say you have a job interview to go to, you want to look as polished as everybody else in the room, so that’s hard to do when you’ve got to buy something that’s a size or too bigger.

Mindy Henderson: Right. Yeah. Everybody wants to look polished. When we have to use the hacks that you’re talking about buying bigger clothes … And I buy bigger shoes so that they’re … But I’m five feet tall, and so by buying bigger shoes, they look a little bit disproportionate with my size and all of that, and it’s just not always the most flattering end results. So your designs and adaptive design, I feel like we’ve made progress in recent years in the world of adaptive fashion, and I think that people are realizing that it’s not just about fashion, but it’s about style and it’s about expression and it’s about a person’s dignity. How did you approach balancing function, comfort, and aesthetics in designing your clothing?

Izzy Camilleri: Well, when I first decided to do a line, my point of reference was a couple of women that I was working with. So the first one was the journalist. She was a professional, she was middle-aged. And then the second one I started working with was younger. She was in her 20s and she had a sports injury. And so when I decided to do a line, I just Googled wheelchair clothes because that seemed to be my focus at the time. And everything that came up was mostly clothing for the elderly, people living in long-term care and it was more about function than it was about style or fashion.

And so when I looked at these two women that I was working with at the time, none of that would be appropriate for them. And so I just decided that, okay, I’m going to do a line that’s functional, but also stylish to offer a sense of self, dignity as you mentioned inclusion, safety, freedom to express yourself. And initially and even to this day IZ Adaptive is really built on wardrobe basics. So what I decided to do at the time was just start building a person’s wardrobe.

And so I just thought, what are all the things that the average person has in their closet? Most of us wear jeans or chinos, we wear sweatpants. We all need a good dress pant or a suit. Just basic tops and t-shirts and things like that. And even a good coat for spring, for the wintertime rain here. So I just started thinking about what are all the things that we all have in our wardrobe and what are the things that are also timeless because it’s a drag when you buy something and it works really well for you, but then next season it’s gone. So what’s something that I can create that’s timeless, that a person can also style on their own? If you’re a real, let’s say a real goth girl, I’ve got black jeans for you. I even got a leather jacket for you that also has the functionality and ease of dress and things like that. Or if you’re fairly conservative and simple, I’ve got that too. And it’s really just the way you dress it up and you style it to work for you. So that’s how I blended the two.

Mindy Henderson: I love your clothes so much. The basics that you’re talking about … I think that the first time I went and looked at your clothes, it made me emotional because they were so good-looking and they looked like something that anyone else would wear. People my age, people younger. And I have to say you either had or have … I’m not sure if it’s still available. But the first item in your line that I got obsessed with was your trench coat. It’s so cute. I freeze in the winters because I can’t get coats on and off, and I’ve never found one that looks really, really nice and tailored and buttoned up, so to speak, that gives me the warmth that I … And so I just do without in the winter. And you probably have never seen someone move so fast from a car into a building or a house. That’s how I’ve gotten through winters. And knowing that there are these coats available that will keep me warm and allow me to look good, I absolutely love.

I also just want to mention that we’ve got a little surprise that I’m going to spill at the end of the podcast to share with our listeners. But let me ask you this. When it comes to disability, there’s a lot of variability to consider. People are ambulatory, they’re wheelchair users, there are sensory challenges. There are things like feeding tubes and catheters that people have to dress around just to name a few. How do you approach designing clothing and prioritizing such a complicated set of needs when you’re designing something new?

Izzy Camilleri: Well, initially I was focusing on wheelchair users, but there are many reasons why people use a wheelchair. So it’s not only paralysis, it could be a number of other conditions and diseases or paralysis as well if someone has an accident or becomes paralyzed from an operation or something like that. So initially I just started rejigging patterns so that they worked with a seated frame. So whether you are paralyzed, you have CP, MS whatever your body is in that position. So regardless of what your condition is, if you are a full-time wheelchair user, your body is just always in that position. And then the next level goes to people that can either dress themselves or they can’t. So then just thinking about how can we create clothes that are easier to get on and work for a body that’s in a wheelchair? And sometimes there’s things that can happen to a body when it’s seated all the time, especially with paralysis. Our stomach muscles actually don’t work the same. And often there’s something called organ settling where organs will settle throughout the day and you end up with a thicker waistline. A common slang for it is parapot or quad belly. I can tell you something you never knew.

Mindy Henderson: Yeah, I had no idea. And I’m sitting here thinking to myself, it’s my organs settling. That’s why my waist is bigger. That’s the explanation

Izzy Camilleri: Right. And that’ll happen throughout the day. So just thinking about pants that need some flexibility in the waist or even fabrics that have a stretch to them. Initially for me too, I started this from the ground up and my means were always limited and always a challenge. So I couldn’t really get into the weeds with all these different conditions as you mentioned, but how can I find this common thread that’s going to link a lot of people together?

Mindy Henderson: Nice.

Izzy Camilleri: So it’s like I’ve taken the close to a certain point, and then you as the customer might have to take it one step further. Let’s say you have one leg longer than the other and you’re a wheelchair user. You can take my pant because it’s going to be better for you already. And I’ve already made those adjustments. Now you just need to take it to a tailor or a family member or whatever and have that one leg shortened. And people that aren’t buying adaptive clothing right now, they are making due with what is available. And so as I grow and as the line grows, and also now that I’m a part of Silverts, we can start working together to create more and more and be more specific on clothing that will help certain needs, which Silverts already does. There’s opportunity to continue to grow the line and expand it and make it more accessible to different conditions.

Mindy Henderson: That’s so interesting. I’m glad you mentioned Silverts. That’s a perfect transition. It’s an adaptive clothing line that many of our listeners may be familiar with. How did that partnership come about and what has it allowed you to accomplish hasn’t been possible up until now?

Izzy Camilleri: I met Josh, who’s the current owner of Silverts several years ago. I actually did a consulting job with them around 2017, and it was just for six months, and Josh was working there at the time and he and I just hit it off. We became friends and stayed in touch. And I know that at the time, too, Silverts, the reason they brought me in is they wanted me to help with their website or with other just things that they had going on at the time. And then time went by COVID, blah, blah, blah, blah. Things were happening on their end.

And then Josh ended up acquiring the business. And last June, he reached out to me to let me know that, and we hadn’t talked in so long, and he just said, “Hey, it’d be great if we get together and catch up.” And so we did do that, and then he asked me if I would consider partnering with them. I know I’ve been trying to find partners and investors, and I’ve just been doing it on my own, and it’s been a lot, and it’s also very limiting. And so I just thought, oh my God, you would be the perfect partner. I don’t have to convince you of anything because so many investors I spoke to, they just didn’t get it. They didn’t see the size of the market, even though I told them what it was and what the potential is.

Mindy Henderson: It’s huge.

Izzy Camilleri: Yeah. They just didn’t see it. So when Josh asked me, it was just like, “You would be the perfect partner because you have so much experience in this field.” They’ve just done so much and are so established and that it would be almost a match made in heaven. So that’s how that came about.

Mindy Henderson: That’s amazing. That’s incredible. And I can definitely see how partnering with them, just like you were saying earlier, is going to open up the possibilities to expand and create more designs that will accommodate an even greater number of people. That’s so exciting. In recent years, like I said earlier, adaptive fashion has begun receiving more attention from mainstream brands and designers. From your perspective, what real progress do you feel like we’ve made in the world of adaptive fashion?

Izzy Camilleri: Well, I think there’s been a lot. It does take time, especially for bigger companies, let’s say, to move into this arena. I do get asked about this a lot. And one thing about adaptive clothing is you really need to know what you’re doing. Can’t just not designing a little mini collection or there’s a lot of things you have to consider, and there’s a lot of things you have to educate yourself on so that you don’t hurt someone. That you don’t create clothing that’s going to be difficult, or even closures that are going to be easier for someone to put on that has dexterity issues. So they have to understand that it’s not wise to use a tiny little button or things like that. So they really need to take the time to do their research. And depending on what kind of line they want to do, whether it’s a sportswear line or a bathing suit line, they need to go to people that would be their potential customers and understand what the challenges are. So unlike a regular fashion line, you don’t really need to do that, but in this case, you need to do that so that A, you don’t hurt someone, or B, all the things that you add into your collection are going to be a positive experience for the end user and something that they can get on easily. It’s comfortable, so on and so forth.

Mindy Henderson: And what do you think are the deterrents to … Is it just the complicated nature of it and the unknown, the step outside of mainstream design and the fact that they already know how to do it? Do you think that that’s what really keeps people from getting into that business, or is there more to it?

Izzy Camilleri: I think there’s what you said, and there’s more to it as well. I think A, like when I was talking about potential investors, they just didn’t see the market. They didn’t see the potential for the investment. And so I think there’s that. I think the average person doesn’t realize that this need exists because when you see someone with a disability, they’re dressed and you just figure that they’re buying like every other person out there, but they’re not realizing what it took to get dressed or how limited the options were. Even for me, before I started doing this, I had no idea. And often when I do talk with … Sometimes people would come into my studio saying, “What do you guys do here?” And then I’ll say what we do, and they’re like, “Oh, I had no idea.” So there’s a big education piece around this as well, because people do have no idea.

Mindy Henderson: It’s such a complicated topic once you really get into it. Even me, as a wheelchair user who knows every single day the challenges that I have, I think so many of us don’t realize how complicated a problem it is to solve. It’s a fascinating topic. If you could challenge the fashion industry though, to embrace one idea or mindset about disability and design, what would it be?

Izzy Camilleri:  I think the simplest thing would just be to tell them to think of more like universally designed clothing. So it doesn’t necessarily have to be adaptive clothing that’s very specific to the disabled community. But if something is universally designed, then it’s good for everybody and anybody. So it could be just considering different closures on garments. I use magnets, for example, on our coats, and they just actually look really modern. They don’t take away from the garment at all. They look actually very chic and modern. So thinking of ways to make a garment easier to get dressed in ways that still look stylish and awesome.

Mindy Henderson: I love that. Yeah, I love that. Anytime someone says universal design to me, I get so excited because I think that it’s such a smart way to look at things. Like, for example, my husband and I built the house that we live in, and when I built it, I wanted every nook and cranny of the house to be accessible, but I didn’t want it to look like it was designed to be accessible and that’s exactly what … I know architecture is a lot different than fashion design, but I think it’s the same principle that you’re talking about. So looking ahead, what trends or innovation do you think are coming next in adaptive design, whether it’s the materials, the technology, or the way that designers collaborate even with the disability community?

Izzy Camilleri: Well, I think it’s everything that you just said. It does take time. There are different technologies out there that can measure a person’s body virtually, but it’s the next frontier to be able to do that with someone who’s sitting, for example, because you need to include the wheelchair in there, or not include it, but take it away. So stuff like that. And then the ability to customize a little bit more. So those things I think are on the horizon. And then with fabrics, I guess that’s another one too. There’s fabrics that with technology within it that can change temperature.

Mindy Henderson: Oh, interesting.

Izzy Camilleri: Things like that.

Mindy Henderson: Yeah.

Izzy Camilleri: So yeah. There’s lots of things. Sometimes I’m in a little bubble. I’m in my own little world, so I don’t know a lot, but those are some of the things that I’ve come across.

Mindy Henderson: Yeah. I’ve always wished for a company … And I’m sure that this is complicated 16 ways from Sunday. But I’ve always wished for a company that would take your measurements or one step better would be like what you’re talking about. If somebody could take a picture of you and get your measurements and things that way and then custom build a dress for you or something like that. I can only imagine how hard a business model that would be.

Izzy Camilleri: Well, I think companies like that do exist.

Mindy Henderson: Oh, really? Interesting.

Izzy Camilleri: Yeah. Yeah. I’m just not sure how perfect or accurate it can be because doing fittings, especially when you’re doing custom all our bodies are different whether you have a disability or not. I’m also very short. I’m under five feet, so my proportions are very different than the average person. So it’s hard for me to get stuff off the rack as well just because of my proportions. And then sometimes even if you measure someone or even virtually measure someone, like taking a picture and getting measurements off of that, some people carry their weight in their back. They might have a small chest and a bigger back or vice versa. So just understanding where … You might have a bust measurement of 36, but what’s the proportion of that 36 in the front versus the back?

Mindy Henderson: Oh, wow.

Izzy Camilleri:  And things like that. So doing fittings is important. And so I just wonder with clothing that’s done that way, how perfect is it? There might need to be some just fine tuning or tweaking.

Mindy Henderson:  Interesting. I would love to live inside your head for a couple of hours and know what you know about fashion. We’ve got a lot of people from the neuromuscular community who are probably listening and maybe advocating for accessibility in their own communities or professions. What have you learned about overcoming the fact that a particular industry or product was not built for someone with a disability?

Izzy Camilleri: Well, I guess there needs to be a will first. And then yeah. Just well, understanding the needs and how it can be accommodated. There’s an organization in Canada called StopGap. I don’t know if you’ve ever heard of it before.

Mindy Henderson:  I haven’t.

Izzy Camilleri: So it started with this young guy who became quadriplegic from a mountain biking accident, and he had just graduated engineering in university. And so when he got out of the hospital and he was out and about in his power chair, he found that there was so many places he couldn’t get into because there was a step that his power chair could not get over independently. So he started something called Stopgap, which are these wooden ramps that he started to make. Home Depot, I think was one of his sponsors.

Mindy Henderson: Oh, wow.

Izzy Camilleri: So he started going in different communities and asking retailers if they would put this outside their stores so that-

Mindy Henderson: I love that.

Izzy Camilleri: Yeah. So not only wheelchair users, but also strollers or delivery men with a dolly could easily get in and out of their store. So he came up with a solution to a problem that you wouldn’t think of it unless you were in it. And it was a way that opened his mind as well as everybody else’s mind around access. I know this guy very well, and he would say, some retailers would say, “Well, you know what? People with wheelchairs don’t usually come in here.” And he’s saying, “Well, it’s because they can’t. It’s not that they don’t want to. And just imagine how many more people you can welcome into your store.”

Mindy Henderson: Interesting.

Izzy Camilleri: Yeah. And I think there is so much opportunity that people with disabilities can offer and should have access to. So hopefully answered your question.

Mindy Henderson: You absolutely did. And I think just personally elaborate on one of the things that you said about strollers and all of the different use cases for these little ramps. You hear it described in the disability community as the curb cut effect. It’s because when curb cuts were introduced, there were all of these additional uses for them besides wheelchairs that people didn’t even necessarily think about. But all of a sudden it solved a lot of different kinds of people’s problems. And so I love that you brought that piece of things up too, because one of the things that I know that I’m guilty of is having tunnel vision about a particular problem I’m trying to solve and not looking at the bigger picture and who else could benefit from a solution here. And I think that that also maybe opens up the world of solutions that you begin to see when you look at it that way. Interesting. So clothing is, like we’ve said, it’s so deeply connected to identity, confidence, self-expression. When you think about the people who wear your designs, what does it mean to you to help someone feel not just comfortable, but truly seen and empowered, which is exactly what you do?

Izzy Camilleri: Well, I feel great. When I first started doing this, I was like, “Why hasn’t anybody started wrapping their head around this?” There was some mom and pop little companies that were doing it. I just happen to have the right recipe of being a designer, but also being a pattern drafter, being able to think of it from a technical perspective. And then because my background is fashion, I can make something functional, but I can also make it look really good. So I’ll tell you a little story. There was one woman who called me after she had received … One time, I was doing this long denim skirt, and she ordered one, and she called me about a week after receiving it. And she said, “I just have to let you know that I’ve worn this skirt every day since I got it.” And she said, “I was in an accident about 20 years ago and became paralyzed and I haven’t been able to wear a skirt until now.” So she just wanted to thank me. And she said that it made her feel human again. And I think that’s probably the biggest compliment I have ever received.

I have seen people start to cry because they never thought they could wear a trench coat again. There was one girl, she was actually born with her disability, and her dream was always to wear a trench coat so she was able to do that. Or even some guy got teary when he put on one of our leather jackets. And just again, thinking he could never be that. He just couldn’t get into a leather jacket. It is really huge, and it just makes me feel like I’m putting my talents to some really good and important work. And when I was doing high fashion and all that stuff, it was great, but there’s just so much out there in that arena. So doing this is just so much more personally satisfying as well.

Mindy Henderson: Well, I’m glad that you’ve had those moments to see the impact that you’re having because it’s not a small thing to be a fashion designer, but it’s about more in this case than a trench coat. It’s the impact that you’re having on people and their ability to feel like themselves and feel like everybody else for once. And you take these limitations and you work with them and you melt them away with the trench coat that you designed for us, and all of a sudden you’re just a cute person wearing a smashing trench coat. You’re not a wheelchair user who had to make this jacket work as best they could.

And so I hope that you know the level of impact that you’re having on this community, and it’s important work. And not just impact that you’re having, but you’re also incredibly generous. And our friends at Silverts are incredibly generous, and I teased a little while ago a little treat that we were going to have at the end of this podcast here. And I want to share with everyone that Silverts and IZ Adaptive is giving 15% off of their purchases. For the next little while for anyone listening to this podcast. We’re going to put special URLs in the show notes that you’ll be able to click and take advantage of this discount that Silverts and Izzy have so generously offered us. So go check out those show notes and find something fabulous to wear.

Izzy Camilleri: Awesome.

Mindy Henderson: Great. Well, thank you so much Izzy, for being here. I really appreciate it and looking forward to continuing to watch your journey and watch you and Silverts work together.

Izzy Camilleri: Thank you. Thank you for the lovely conversation and having me on your program.

Mindy Henderson:  Absolutely.

Thank you for listening. For more information about the guests you heard from today, go check them out at mda.org/podcast and to learn more about the Muscular Dystrophy Association, the services we provide, how you can get involved, and to subscribe to Quest Magazine or to Quest Newsletter, please go to mda.org/quest. If you enjoyed this episode, we’d be grateful if you’d leave a review, go ahead and hit that subscribe button so we can keep bringing you great content and maybe share it with a friend or two. Thanks everyone. Until next time, go be the light we all need in this world.

The post Quest Podcast: Fashion for Every Body: Izzy Camilleri on Style, Function, and Inclusion appeared first on Quest | Muscular Dystrophy Association.

Cause of XLMTM

XLMTM is caused by genetic mutations in the MTM1 gene on the X chromosome. This gene encodes the enzyme myotubularin, which is essential for normal development, maintenance, and regulation of skeletal muscle cells. Without myotubularin, the muscle cells experience structural and functional problems that lead to the symptoms of XLMTM.

Since males only have one copy of the X chromosome, defects in the X-linked MTM1 gene lead to a condition that almost exclusively affects males. While many females may carry the defective MTM1 gene without symptoms, some female carriers develop muscle weakness later in life.

Symptoms of XLMTM

About 80% of males with XLMTM have a classic, severe form of the disease that begins at birth or in the first year of life. These infants commonly experience:

·       Very low muscle tone, sometimes described as “floppiness” (hypotonia)

·       Severe skeletal muscle weakness

·       Facial weakness, including drooping eyelids (ptosis) and limited eye movement

·       Weakness of the bulbar muscles, which can cause difficulty with feeding and swallowing

·       Respiratory muscle involvement, often leading to respiratory failure

Signs of severe XLMTM can often be detected before birth. Common prenatal findings include:

·       Decreased fetal movement, reported in about 50–60% of pregnancies

·       Excess amniotic fluid (polyhydramnios), likely related to impaired fetal swallowing

At birth, many infants with XLMTM are unable to breathe independently and require immediate respiratory support. It is estimated that about 25% of infants with severe XLMTM do not survive beyond their first year.

The other ~20% of males with XLMTM have a moderate or mild form, allowing them to reach motor milestones faster than those with the severe form. Many are able to walk independently and live into adulthood, though most will need feeding tubes or ventilatory support. In all forms of XLMTM, the muscle weakness is generally stable rather than progressive.

Female carriers of the defective MTM1 gene are usually asymptomatic. However, some carriers develop symptoms that can range from severe muscle weakness in childhood to milder, adult-onset issues. The most common symptoms affecting female carriers involve the limb-girdle muscles (hips and shoulders) and facial muscles. In some affected women, respiratory function may decline over time, leading to the need for ventilatory support.

For more information about the symptoms of XLMTM, as well an overview of diagnostic and management concerns, an in-depth overview can be found here.

Diagnosis and current management of XLMTM

XLMTM may be suspected based on clinical features such as severe muscle weakness, low muscle tone, breathing difficulties at birth, and characteristic facial findings. The diagnosis is confirmed by using genetic testing to identify disease-causing mutations in the MTM1 gene.

There is currently no disease-modifying therapy for XLMTM, so care focuses on supportive management by a multidisciplinary team. Early evaluations usually assess breathing, feeding and swallowing, vision, and orthopedic health. Genetic counseling may also be recommended for families.

Many children with XLMTM, particularly those with moderate to severe disease, require long-term respiratory support, which may include invasive mechanical ventilation, as well as feeding support through a gastrostomy tube (G-tube). Individuals with milder disease may also require support for respiratory complications, particularly during illness, as well as feeding assistance. Education, communication tools, and rehabilitation therapies are often important parts of care.

Ongoing monitoring for people with XLMTM usually includes annual pulmonary assessments, periodic sleep studies, screening for scoliosis, regular eye exams, and dental follow-up. Rare complications such as liver bleeding have also been reported and may require additional monitoring.

With coordinated care and careful supervision, many individuals with XLMTM can achieve improved stability and quality of life.

Evolving research and treatment landscape

Research into treatments for XLMTM is ongoing, with several promising strategies under investigation.

One of the most advanced approaches has been gene therapy, which aims to deliver a healthy copy of the MTM1 gene. Early animal studies of MTM1 gene therapy showed dramatic improvements in strength and survival, leading to the ASPIRO clinical trial of the investigational gene therapy AT132 (Astellas Gene Therapies). Results from this trial showed meaningful improvements in strength and ventilator independence for some boys treated with the therapy. However, the trial was placed on hold due to serious liver-related safety concerns. Development of AT132 has been paused while safety and regulatory reviews continue. Newer gene therapy efforts are continuing with an emphasis on safety and long-term benefits.

One new gene therapy candidate in clinical trials for XLMTM is:

ASP2957 (Astellas Gene Therapies) – This gene therapy is being investigated in the phase 1/2 VALOR trial in boys with ventilator-dependent XLMTM. This program is Astellas’ second attempt at XLMTM gene therapy after the halted AT132/ASPIRO trial. Like AT132, this therapy aims to delivers a healthy copy of the MTM1 gene using a viral vector (AAV), but it uses a next-generation viral delivery system intended to improve targeting to the muscle and reduce targeting to the liver. This is to address the underlying liver vulnerability in XLMTM that resulted in the clinical hold on their first program. The trial is currently recruiting participants.

Beyond MTM1 gene replacement, research efforts continue to explore new ways to modify disease pathways, including targeting proteins that influence muscle function. While these approaches have shown encouraging results in laboratory studies and preclinical models, they are not yet approved as treatments. However, ongoing research offers hope for future treatment options.

To support these efforts, patient registries and observational studies have been established to collect and analyze data from individuals with XLMTM. These initiatives are crucial for improving understanding of the condition and guiding the development of future treatments. Current efforts include:

A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition (EXCEL) (Astellas Gene Therapies) – This study follows boys younger than 18 years old with XLMTM for approximately 1 year to monitor liver health over time. The study is currently recruiting participants.

Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry (Newcastle-upon-Tyne Hospitals NHS Trust) – This registry in the UK is collecting clinical and genetic data from patients to support research and connect participants with relevant clinical trials. The registry is currently recruiting participants.

To learn more about clinical research opportunities in XLMTM, visit clinicaltrials.gov and search for the disease name in the condition or disease field.

MDA’s work to further cutting-edge XLMTM research

Since its inception, MDA has invested more than $6.8 million in XLMTM research. Through strategic investments from MDA, partner advocacy groups, and the National Institutes of Health (NIH), XLMTM research is advancing, offering hope for breakthroughs and a better future for those living with this serious condition.

MDA’s Resource Center provides support, guidance, and resources for patients and families, including information about XLMTM, open clinical trials, and other services. Contact the MDA Resource Center at 1-833-ASK-MDA1 or [email protected].

The post Simply Stated: Updates in X-Linked Myotubular Myopathy (XLMTM) appeared first on Quest | Muscular Dystrophy Association.

Chris Weihl, MD, PhD

New genetic testing technologies are improving the diagnostic journey for many people with neuromuscular diseases. Now, doctors can test 100 or more genes simultaneously when they suspect a patient may have a muscular dystrophy or other inherited neuromuscular disorder. According to Chris Weihl, MD, PhD, a neurologist and Director of the MDA Care Center at Washington University in St. Louis, this increases both the likelihood of making a diagnosis and the rapidity of the diagnosis.

However, as more genes are tested regularly, more variants of unknown significance (VUSs) are found. This can lead to confusion for clinicians and people searching for a diagnosis.

“I don’t think we appreciated the number of variants of unknown significance that we would identify in patients,” Dr. Weihl says of the advances in genetic testing. “It can be just as frustrating to a patient because they’re left in this area of limbo.”

What are variants?

Your DNA contains genetic instructions for the development and function of every part of your body. Genetic testing, also called genetic sequencing, analyzes your DNA to look for changes in genes, called variants or mutations. Some of these changes cause diseases (pathogenic), while many are harmless (benign).

Humans have about 20,000 genes. Scientists have identified hundreds of pathogenic gene variants, but there are still a lot they don’t know.

A VUS is a change in a gene, but scientists are not sure yet whether it causes a disease or is harmless.

A simple way to think about a VUS

Scientists sometimes explain a VUS in terms of a recipe. Imagine instructions for baking a cake:

• If the recipe says “1 cup salt” instead of “1 cup sugar,” we know it’s a problem. Think of this as a pathogenic variant.
• If the recipe calls for whole milk and you use skim milk instead, the cake will still taste good, and we know this change doesn’t matter. Think of this as a benign variant.
• If there’s an instruction in the recipe that you’ve never seen before, we don’t know whether it alters the cake. This is a VUS.

Why do VUS results happen?

There are several reasons:

• Genetics is still a growing science.
• Some genetic changes are very rare.
• There may not be enough people studied yet with the same variant.
• We don’t know yet how this variant affects the body.

Over time, as more people get genetic tests, scientists may be able to reclassify a VUS as either benign or pathogenic:

• If many people with a certain VUS do not have a disease, they’ll determine it is benign.
• If a significant number of people with a VUS have the same disease, they’ll classify it as pathogenic.

“I’m hopeful that, as we sequence more patients and understand more of the variation of genetics, there’ll be fewer variants of unknown significance,” Dr. Weihl says.

What to do if your genetic test results include a VUS

If you have one or more VUSs in your genetic test results, the most important next step is to talk with a neuromuscular specialist or genetic counselor. They can look at the whole picture and decide what, if anything, to do next.

They might start by looking for more information about your VUS or similar variants to help determine if it is more likely to be benign or pathogenic. There are several collaborative scientific efforts — some of which MDA helps fund — to safely collect and share genetic information among researchers and clinicians to help them track and classify VUSs.

Your doctor or genetic counselor might also recommend that a family member be tested to see if they have the same VUS. If the family member has the same variant but does not have the same symptoms, the VUS is more likely to be benign.

Stephan Züchner, MD, PhD

Your doctor might recommend additional tests, such as a muscle biopsy or imaging, to look for signs that the VUS might be linked to your symptoms.

“I would say around 60% of the time we can resolve a VUS, but 40% of the time we’re still left in that area of limbo,” Dr. Weihl says.

It’s important to ask your doctor if you should revisit your results or retest in the future, because genetic tests are continuously updated as new disease-causing variants are identified.

Stephan Züchner, MD, PhD, Chief Genomics Officer at the University of Miami Miller School of Medicine, recommends reviewing prior inconclusive test results or repeating genetic testing about every five years until you receive a genetic diagnosis.

Important questions to ask about your results

Here are helpful questions to bring to an appointment with your doctor:

• Could this VUS explain my symptoms, or is it probably unrelated?
• Are there other tests that could help clarify what’s going on?
• Should any of my family members be tested?
• Could this VUS be rechecked in the future?
• Should I meet with a genetic counselor?

Ongoing care

Even when genetic testing does not give a clear answer, neuromuscular specialists often can provide a clinical diagnosis based on your symptoms, family medical history, and other diagnostic tests. A clinical diagnosis can help doctors treat your symptoms.

“You still have a diagnosis,” Dr. Weihl reassures patients who have inconclusive genetic test results. “You still have a disease that I understand, and I still can support you.”

Staying engaged with your neuromuscular care team ensures that you’ll receive appropriate ongoing care, and you’ll be informed about genetic discoveries, disease registries, clinical studies, and new therapies.

Amy Bernstein is a writer and editor for Quest Media.

The post What Is a VUS? Variants of Unknown Significance in Genetic Testing and Why They Matter appeared first on Quest | Muscular Dystrophy Association.

While exciting, enrolling in a study is a deeply personal decision — one often filled with hope, fear, courage, and uncertainty. Here, members of the neuromuscular community share their experiences and four key tips for participating in clinical research.

1. Lean on your care team

Healthcare providers often help community members begin the journey toward participating in clinical research — and are there for them throughout the process. For Shelby Herschberger, it was a non-medical MDA specialist who helped her decide to enroll her son Tyson, 15, in a clinical trial studying deflazacort (Emflaza) for Duchenne muscular dystrophy (DMD).

“She told us about the resources in our area and how to get involved in the clinical trials that were happening at Children’s Healthcare of Atlanta at that time,” says Shelby, who lives in Georgia.

Looking back, Shelby says those early conversations — and not being afraid to ask questions — made all the difference. “There’s no such thing as too many questions, especially when they are about your child,” she says. “Ask all your questions until you understand and feel comfortable.”

Darci Garcia, 46, of Texas, who lives with amyotrophic lateral sclerosis (ALS), participated in a clinical trial for an experimental therapy that regulates cells in the immune system. “Educate yourself on the trial, drug, and procedure as much as possible,” she advises. “The experts are there, so ask all the questions.”

2. Plan for the time commitment

Being involved in research demands flexibility and patience. Many participants say to budget more time than you think you’ll need for appointment days.

Chloe Crabb, 13, who lives with spinal muscular atrophy (SMA), frequently traveled five-and-a-half hours to Denver when she participated in a nusinersen (Spinraza) clinical trial about 10 years ago. Her mom, Kate, says the travel was tedious, but they made the most of it. “We turned it into a fun vacation,” she says. “We would go shopping or to the museum. For the longest time, we had Chloe believe that chocolate milk only existed in Denver, so she would be excited to go.”

In 2022, Omar Sheikh, of Portland, Oregon, who lives with Becker muscular dystrophy (BMD), took part in a local study using MRIs to observe muscle changes over time. The study required annual visits, and sometimes the tests would take most of the day. Omar learned to block off a full day for the study visits.

Ann Stanley of West Virginia, whose daughter, Winnie, 10, lives with SMA, says the upheaval to your schedule can be tough. “There’s a lot of travel, some missed school, and lots of time spent at the hospital,” she says. “Just be prepared for that.”

Many studies will reimburse travel expenses, including transportation, lodging, and food, to ease the burden. Be sure to ask about reimbursement if the information is not provided to you.

3. Prepare for a range of emotions

For many families, the physical and emotional demands can be just as challenging as the logistics.

When Winnie enrolled in a clinical trial, she had to overcome her fear of needles, as her trial required weekly shots given at home and bimonthly blood draws. What helped most was letting Winnie feel ownership over the choice. “We gave her a voice in the decision and talked it through,” says her mom, Ann. “She decided she wanted to help other kids with SMA by participating in this trial.”

Kate, whose daughter was in a placebo-controlled trial, constantly wondered whether Chloe was getting the active drug or the inactive placebo. “You’re providing your child to science but getting no feedback,” she says. She was surprised by how difficult that was, even though she knew about the possibility of a placebo going into the study.

Later, when Chloe felt exhausted after multiple surgeries, the family had to weigh whether to continue in the trial. “It takes such an emotional and physical toll to participate,” Kate says. “I think that’s a huge thing that people don’t realize.”

4. Consider the bigger purpose

Darci felt like her ALS symptoms improved while she was in a clinical trial for an investigational therapy, but, due to lack of funding, the treatment was no longer available after the trial ended. Still, she remains grateful to have been part of it.

“A positive attitude goes a long way,” she says. “You have to understand that the trial may not have the outcome you’re hoping for, and it may be a stepping stone to push research further — you have to be OK with that.”

AJ Bardzilowski, who lives with inclusion body myositis (IBM) and facioscapulohumeral muscular dystrophy (FSHD), joined a trial for an investigational drug that ultimately did not prove to be effective. Still, he loved being able to contribute to the study.

“​​Everybody’s journey is unique, and studies have side effects to consider,” he says. “But, if you’re offered the chance and it’s safe for you to do it, then I think it’s a no-brainer — 100% do it if you can. It’s the only way they’re going to make advances.”

Chloe feels proud knowing that her participation played a part in Spinraza’s approval. “As I got older, I really grasped the idea that I helped — I was part of this drug becoming approved because I participated,” she says.

Maggie Callahan is a frequent contributor to Quest Media.

The post Considering a Clinical Trial? 4 Things to Know Before You Enroll appeared first on Quest | Muscular Dystrophy Association.

The Small Family

“Because of their specific mutation, they didn’t qualify for exon-skipping or gene therapy trials. We were just doing standard-of-care steroids, hoping for something new,” Alison says.

In 2024, hope arrived when the US Food and Drug Administration (FDA) approved a new gene therapy — Elevidys, developed by Sarepta Therapeutics — for ambulatory individuals at least 4 years old with DMD. They wanted to pursue it right away.

A difficult decision

The Small brothers, Hunter, 11, and Noah, 9, share the same exon-5 deletion — a rare mutation in DMD that had previously excluded them from clinical trials. During initial testing, doctors noticed that Hunter had cardiac abnormalities, while Noah’s heart looked healthy. Alison and William decided not to dose Hunter at the time, believing that was the safest choice.

Noah’s insurance approval for Elevidys came through in November 2024 — no denials, no appeals. Next, the family waited for the hospital to finalize a payment agreement with Blue Cross Blue Shield and order the therapy. This is a normal part of the process for new therapies, and it can involve weeks or months of waiting. Noah finally received his infusion in March 2025.

“He did really well,” Alison says. “Just some nausea early on, but cardiac and liver-wise, he was great.” The difference was immediate and striking. “Before gene therapy, he’d complain about end-of-day fatigue and leg pain several times a week. Since the infusion, not once. He has more energy, more endurance — people who haven’t seen him in months can’t believe the change.”

The denial no one expected

A few months later, the family repeated Hunter’s testing and met with their care team. By this point, more boys had been safely dosed with Elevidys, and combined with how well Noah was doing, the team felt confident it was the right time to move forward with Hunter’s treatment.

The family thought it would be a familiar process. “Same disease, same mutation, same insurance,” Alison says. “We thought it would be straightforward.”

It wasn’t. Their claim was denied, their first appeal was denied, and the following peer-to-peer review was also denied.

Determined not to give up, Alison crafted a strong appeal letter addressing the insurance company’s stated reasons for denial. She also contacted her employer’s HR department, Arkansas state officials, and the Office of Personnel Management in Washington, DC. The family even appeared in a national TV news segment highlighting their case, and shortly after it aired, they got the call they’d been praying for.

“When I saw ‘Blue Cross Blue Shield Federal’ pop up on my phone, I almost passed out,” Alison remembers. The denial was overturned, and after three months of back-and-forth, they were finally able to move forward.

A challenging system

New, single-dose gene therapies are the most expensive drugs on the market, with Elevidys priced at $3.2 million. This makes them out of reach for most people without insurance coverage.

“We were even looking into selling our house,” Alison says. “It just didn’t seem fair that I have insurance, and we would have to bankrupt ourselves to get an FDA-approved treatment.”

Unfortunately, Alison’s story is one that many families in the neuromuscular community can relate to. Insurance denials are a common hurdle, and the challenges often multiply as children age into adulthood and take on their own health and coverage decisions.

Research from Texas Children’s Hospital and Baylor College of Medicine found that many teens and young adults with chronic conditions feel unprepared to handle insurance on their own as they move into adult care. Even those with coverage often struggle to understand benefits, face limits on which doctors they can see, and encounter unexpected costs that delay or derail treatment. The study concluded that health insurance “is a complex system that directly affects young people’s ability to manage their health and transition successfully.”

These findings echo what families like Alison’s face: insurance literacy and access can make or break the path to timely care.

4 steps to insurance approval

Lindsey McKinnon

According to Lindsey McKinnon, Senior Specialist in MDA’s Resource Center, navigating health insurance approvals for gene therapy can be overwhelming and challenging, often requiring patience and careful organization.

“There are proactive steps families can take to stay organized and improve their chances for approval,” she says.

To help make the process feel a little less overwhelming, Lindsey breaks it down into four practical steps:

Step 1: Understand your coverage.

Request your entire insurance policy — not just the summary. Review benefit exclusions, deductibles, and what is considered investigational.

Step 2: Request a case manager.

Having one consistent point of contact at the insurance company streamlines communication and helps you track next steps.

Step 3: Work closely with your care team.

Make sure your healthcare provider compiles clear, well-documented medical evidence. Ask who on your care team handles prior authorizations and appeals.

Step 4: Build a strong letter of medical necessity.

Structure your letter in a two-column format: one column lists the insurer’s stated criteria; the other shows how your case meets each point. “Keep it factual, concise, and tied directly to their language,” Lindsey says.

The Texas Children’s Hospital study found that fewer than 1 in 5 patients ever had insurance explained by their pediatric provider. Families are largely left to figure it out alone — which is why MDA’s Access to Coverage workshops and one-on-one guidance through the Resource Center fill such a critical gap.

Common denial reasons — and what you can do

Denials can still happen, even with a strong application or appeal. Understanding common reasons, which are listed below, and how to respond, can help you take the next steps.

Denial: “Does not meet plan criteria.”

Insurers may rely on narrow clinical trial criteria rather than the broader FDA-approved label. Ask your doctor to highlight what’s actually in the drug’s label.

Denial: “Investigational or experimental.”

Even FDA-approved treatments sometimes receive this denial. You or your doctor can submit a request for an external review by an independent neuromuscular specialist. Setting clear response deadlines at this stage can help prevent further delays.

Denial: “Benefit exclusion.”

Some insurance plans omit gene therapy entirely. In this case, families can explore other options:

• If you have health insurance through your employer, ask Human Resources if an override is possible.
• Check if your child may qualify for Medicaid as secondary coverage.
• Review a spouse’s plan or Health Insurance Marketplace (HealthCare.gov) options during open enrollment.
• Rally community support or engage local media and elected officials.

In combating denials, persistence and escalation are key.

Understanding the appeals process

When an insurance denial happens, it sets in motion a structured appeals process — one designed to ensure your case receives a fair review. To follow this process effectively, it helps to know how it works.

Internal appeal: Reviewed within your insurance company

• Level 1: Peer-to-Peer Review. Your doctor speaks directly with the insurance company’s medical reviewer to explain the medical need for treatment.
• Level 2: Medical Director Review. A new reviewer within the insurance company re-examines the decision.

External appeal: Reviewed by an independent third party

• Level 3: Independent External Review. A specialist outside the insurance company, often with neuromuscular expertise, makes a final determination. You or your doctor can request this review.

Families usually have 60 days to request an external appeal, which can be requested after a Level 1 or Level 2 denial. Insurers typically have up to 30 days to respond to each internal appeal, meaning the full process often takes two to three months. However, expedited appeals can be decided within 72 hours if the condition is considered life-threatening.

“MDA can help families at any stage,” Lindsey adds. “We have an insurance worksheet and an Access to Coverage workshop that walks through the process step by step. Our Gene Therapy Support Network is available to answer questions, review policy documents, and offer guidance.”

Her parting advice mirrors Alison’s lived experience: Be persistent, and don’t take no for an answer.

Gratitude and hope

Hunter received his gene therapy infusion in October 2025, and today, the brothers are playing with newfound strength. The family knows there are still uncertainties. Elevidys can only be administered once, and long-term safety data only dates back to 2018. Still, Alison says the goal is clear: preserve her sons’ strength and mobility as long as possible.

After years of advocating for her boys, Alison wants systemic change, so fewer families have to wage the same battle.

“Fighting the disease is hard enough,” Alison says. “You shouldn’t have to fight for your care.”

Emily Blume is a freelance journalist living in Washington state.

Insurance and Gene Therapy Resources

These resources from MDA can help you navigate the health insurance process and learn about new therapies.

• Access to Coverage Workshops: On-demand online educational sessions on approved treatments, the appeals process, and other insurance issues.
• Health Insurance Worksheet: Helps families compare and choose the right health insurance plan. Find it under “General Neuromuscular Disease Resources.”
• MDA Advocacy: Learn how to contact your elected representatives and advocate for access to therapies.
• MDA Gene Therapy Support Network: Trusted guidance, access to care, and support for individuals and families at every step.
• MDA Resource Center: MDA Specialists can provide support and resources to families every step of the way. Call 833-ASK-MDA1 or email [email protected].
• MDA Toolkit: Checklists and resources to keep you in control and organized as you navigate insurance and healthcare landscapes.
• Navigating Insurance: Gene Therapy: A guide to understanding coverage, approvals, and appeals. Find it under “Gene Therapy.”

The post Expert Tips for Handling an Insurance Claim Denial for Gene Therapy appeared first on Quest | Muscular Dystrophy Association.

TK2d is very rare, affecting fewer than 2 per 1 million people worldwide. Yet in a milestone for mitochondrial myopathies, the US Food and Drug Administration (FDA) recently approved a therapy that alters the progression of this disease.

To learn more about TK2d, we talked with Michio Hirano, MD, a neurologist at the MDA Care Center at Columbia University in New York, whose research helped lead to the new therapy.

How do you describe TK2d?

TK2d is a genetic condition that predominantly causes progressive weakness in the arm, leg, oral, and respiratory muscles. Often, individuals with TK2d have difficulty swallowing or breathing and sometimes require respiratory and feeding support. For some individuals, seizures may also be a part of the disease.

People who develop the disease in infancy or very early childhood progress most rapidly. Unfortunately, it can lead to early death when it begins early in life. Those with onset after age 12 have the most slowly progressing form of the disease.

How is TK2d diagnosed?

Many patients with TK2d are not diagnosed immediately because it’s rare and not well-known. Often, more common diseases are considered first, like Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA), which can look very much like TK2d. But now, with genetic testing more widely available, the diagnosis can be made more quickly by screening for genetic causes of weakness in children.

What causes TK2d?

TK2d is an autosomal recessive condition, meaning both parents are usually carriers of a mutation in the TK2 gene, and the child inherits one mutation from each parent.

The TK2 gene is needed to make the building blocks for mitochondrial DNA, which is required to power cells. Individuals with TK2d lose many mitochondrial DNA molecules, and the quality of that mitochondrial DNA degrades. That’s why the disease progresses over time.

How are TK2d symptoms typically managed?

Supportive therapy is very important. TK2d patients can benefit from physical therapy, respiratory therapy (including noninvasive ventilation), and sometimes feeding tubes to support nutrition.

Since children with this disease may experience seizures, doctors should screen for that. TK2d can also affect the liver, so it’s important to screen for liver abnormalities. Lastly, some patients develop fractures easily, so bone health should be assessed with bone density scans.

Until recently, no therapies had been approved to slow or alter the progression of the disease itself. But we’re excited that a new therapy called doxecitine and doxribtimine (KYGEVVI®) is now available.

How does the new therapy work?

KYGEVVI® helps the body make the building blocks needed for healthy mitochondrial DNA, restoring the mitochondrial DNA to more normal levels. It’s a therapy that targets the root cause of the disease.

We first tested the treatment in mice and saw that it extended their lifespan two- to threefold. Later, we began treating patients through special approval from the FDA. Our first patient was just 19 months old and very weak when he started. Over time, he improved and is now 14 years old and going to school. (Read more about this case in How Expanded Access and Compassionate Use Broaden Access to Investigational Therapies.)

Since then, doctors around the world have treated patients with similar results through a rigorous industry-sponsored clinical trial. After more than six years of this pivotal clinical trial, the therapy received FDA approval in November 2025 and is now being produced and distributed by UCB Therapeutics.

What will this therapy mean for those living with TK2d?

KYGEVVI® has been approved for people who have confirmed TK2 gene mutations and whose symptoms began before age 12. The most important thing is that it clearly helps people live longer. Babies with early-onset TK2d often don’t live past their first year. This therapy completely changes that.

Many of the patients treated with this therapy have also regained lost skills, such as sitting, standing, or walking. In more than 70% of patients, there have been improvements in strength or movement.

While many patients show progress, not everyone who is on a ventilator or uses a feeding tube can come off them completely. Some can reduce their dependence, but for most, these supports remain an important part of care.

It’s not a cure, but it’s a major step forward that can help people with TK2d live longer and stronger lives.

Michelle Jackson is a writer for Quest Media.

MDA Backs Mitochondrial Myopathy Research

MDA has long been a driving force behind mitochondrial myopathy research. Early MDA research grant funding supported Michio Hirano, MD, in developing a TK2-deficient mouse model, which proved that targeted treatments could restore mitochondrial function.

In 2024, MDA awarded more than $480,000 in new research grants for mitochondrial myopathy, including one funded in partnership with AFM-Téléthon, the French muscular dystrophy association. These grants help advance promising work on mitochondrial diseases at leading institutions worldwide.

At the 2025 MDA Clinical & Scientific Conference, UCB Therapeutics presented compelling data demonstrating the significant benefits of its investigational therapy for people living with TK2d.

These efforts directly contributed to the FDA approval of KYGEVVI®, the first TK2d treatment.

The post Understanding Thymidine Kinase 2 Deficiency appeared first on Quest | Muscular Dystrophy Association.

For example, in type 1 myotonic dystrophy (DM1), a variety of symptoms all stem from a single source: incorrectly produced, toxic proteins. As bricks are to a house, proteins are to the human body. When properly manufactured by the body’s cells, proteins construct our personal biology, allowing all sorts of functions — from running to sleeping — to happen without a hitch. But in DM1, proteins are improperly manufactured, resulting in symptoms like musculoskeletal pain, weakened grip, cataracts, and daytime fatigue, to name a few.

Brian Lin, PhD

But what if the production of those toxic proteins could be halted? Better still, what if those proteins could be manufactured correctly from the start?

Enter RNA-targeted therapies, a treatment protocol with enormous potential for a spectrum of neuromuscular diseases that affect how the body builds proteins.

“RNA therapies are extremely promising for the neuromuscular field,” says Brian Lin, PhD, Research Portfolio Director at MDA. “Because they can be flexibly designed, they can be targeted specifically to what the patient needs.”

Why RNA?

Let’s go back to high school biology for a moment. All living organisms contain deoxyribonucleic acid (DNA), which carries the genetic information for every cell in the body. But DNA can’t function alone. It depends on ribonucleic acid (RNA) to transcribe and deliver DNA’s instructions to the ribosome, the part of the cell that manufactures proteins.

Think of DNA as the instruction booklet for building a piece of furniture, and RNA as the individual pieces. These pieces are the main types of RNA central to protein creation:

• Ribosomal RNA (rRNA) forms part of the ribosome.
• Messenger RNA (mRNA) carries the genetic instructions to the ribosome.
• Transfer RNA (tRNA) brings amino acids to the ribosome to help them build proteins.

In our bodies, DNA is constantly being transcribed into RNA, which is translated into proteins. But what if RNA is copying a set of instructions with missing or incorrect steps? That is, essentially, what happens in neuromuscular diseases: The translation is the problem.

Deciphering the code

Because neuromuscular diseases begin with abnormal DNA, whatever RNA is transcribed is abnormal as well. In some cases, errors also occur during the transcription process, leading to faulty mRNA. While gene therapies seek to correct faulty genes that cause neuromuscular diseases, RNA-targeted therapies seek to interrupt faulty protein production by blocking or correcting it.

One of the most promising RNA therapy mechanisms is antisense oligonucleotides (ASO). ASOs are short, synthetic strands of RNA designed to enter cells and bind to mRNA sequences, altering the way they are processed.

For example, one known disease mechanism is when the mRNA includes a stop signal too early, telling the ribosome to stop making the protein before it is complete. An ASO can instruct the ribosome to ignore the misplaced stop signal and make the full protein.

An ASO can also alter mRNA that delivers instructions to produce toxic proteins. Small interfering RNA (siRNA), which targets and degrades mRNA, is another way to silence genes that encode harmful proteins. In the case of DM1, researchers are studying both methods to block or reduce the mRNA that leads to the disease’s symptoms.

In other words, RNA therapies target genetic mutations without touching the DNA. And, depending on what a specific disease requires, RNA therapies can increase, decrease, or modulate gene expression to stop faulty protein production or encourage the manufacturing of functional proteins.

According to Dr. Lin, this makes them easier to produce than some other therapeutic modalities and flexible enough to be tailored to different neuromuscular diseases. In addition, there are potentially fewer side effects compared to standard gene therapies delivered by a viral vector. This also means that RNA therapies don’t alter DNA permanently and are reversible.

James Dowling, MD, PhD

“You can give it multiple times, so if you need the effect to happen more than once, you can get that; if there are some side effects, you can discontinue it,” says James Dowling, MD, PhD, a professor of genetics and neurology at the University of Pennsylvania. “Whereas gene therapy can’t be discontinued once it’s been given.”

The tricky thing about RNA therapies currently is that their effectiveness varies by disease. “Muscle turns out to be one of the harder tissues to get therapies to go to when they’re given in the bloodstream,” Dr. Dowling says.

But scientists are getting better at it — particularly when it comes to a class of ASOs known as exon-skipping drugs. Exons are the parts of our genes that are encoded for making proteins, and mRNA transcribes these instructions.

In Duchenne muscular dystrophy (DMD), missing or abnormal exons in the dystrophin gene prevent the body from properly producing dystrophin protein. This protein is essential for keeping muscle cells intact; without it, muscles rapidly break down.

Five exon-skipping therapies for DMD are available now. They all work by instructing cells to skip over specific sections of faulty exons, effectively creating a molecular patch so that those exons are ignored. This enables the body to produce a shorter but functional dystrophin protein. So far, clinical trials and real-world results show that exon-skipping drugs could be effective in more than 80% of people with DMD.

See A Guide to RNA-Targeted Therapies for a list of approved RNA therapies and notable RNA therapies in clinical trials.

The road ahead

Many RNA-targeted therapies are still in preclinical development, which means they have not yet been tested in humans. However, several human clinical trials are studying various types of RNA therapies for neuromuscular diseases, including DMD, DM1, amyotrophic lateral sclerosis (ALS), and facioscapulohumeral muscular dystrophy (FSHD).

There are also several available therapies that demonstrate the future promise of RNA therapies for neuromuscular treatment. For people living with spinal muscular atrophy (SMA), where muscle weakness and wasting occur due to the loss of nerve cells in the spinal cord, there are two already approved by the US Food and Drug Administration (FDA).

Nusinersen (Spinraza) is an ASO drug that increases production of the survival motor neuron protein, while risdiplam (Evrysdi) is a small-molecule drug that achieves the same effect. Both are what’s known as splicing modifiers.

When RNA transcribes genes into mRNA, it initially transcribes exons and introns. But the introns, which are sometimes called junk DNA, are not needed for building proteins. They are removed, or spliced, keeping the exons in the final mRNA strand.

In some people with SMA, an error in this process leaves an exon out of the mRNA. This means part of the instructions for building survival motor neuron protein is missing. Evrysdi seeks to modify the splicing process to ensure that all exons are included in the final mRNA strand.

Progress continues in other areas. Tofersen (Qalsody) is the first approved RNA-targeted therapy for a type of ALS. Mutations in the SOD1 gene cause a rare, inherited form of ALS, which occurs when misfolded SOD1 proteins bunch together and harm motor neurons. Qalsody works by interfering with the mRNA that delivers instructions to produce those harmful proteins.

Such a treatment for ALS is, in fact, emblematic of what RNA therapies can achieve for the neuromuscular community: unique remedies for particular forms of a disease, able to be tweaked or tinkered with over time to make better, more targeted therapies.

“RNA therapies are more conducive to personalized medicines,” Dr. Lin says. “For the ultra-rare diseases, this is great because each individual could eventually have a treatment.”

Andrew Zaleski is a journalist in the Washington, DC, area. He wrote about living with myotonic dystrophy type 1 (DM1) for GQ magazine.

The post RNA Therapies Offer Keys to Treating Genetic Neuromuscular Diseases appeared first on Quest | Muscular Dystrophy Association.

Caroline LeMay, her husband, and their dogs

The 27-year-old already has an impressive résumé, with positions as a financial analyst for J.P. Morgan Markets, a special advisor to a municipal government CEO, and roles across several nonprofits. She is bringing her intellect and life experience to her current role as Chief of Staff for the international nonprofit School of Leadership, Afghanistan (SOLA).

Caroline, who lives with collagen VI congenital muscular dystrophy (CMD), works closely with SOLA’s board and oversees cross-departmental strategic initiatives. Her role helps ensure that the Rwanda-based boarding school provides a safe and empowering environment for Afghan girls to continue their education and prepare to pursue college and careers worldwide. In Afghanistan, girls are not permitted to seek higher education and have few opportunities to pursue their dreams. As a young female leader herself, Caroline is passionate about creating opportunities for others who can help change the world. And as someone living with a disability, she knows the importance of overcoming obstacles to education and chasing her dreams.

An early desire to excel

“When I was young, my parents were really important in my journey of establishing confidence in my own abilities,” Caroline says. She recalls her father, a biochemistry professor with a PhD, urging her to rely on the power of her mind when planning her future. He and her mother, who holds a master’s degree, maintained that college was not only attainable but expected.

“The emphasis on education has always been important in my family,” Caroline says. “My parents raised me to recognize that my diagnosis is not a reason not to pursue my goals. Having those champions and, now that I am older, being that kind of champion for other people to set goals and aim high, is critical.”

In school and extracurricular activities, Caroline strengthened her ability to advocate for herself as she sharpened her mind. In high school, she received accommodations to leave class early to travel to the next class and type her exams instead of handwriting them. Navigating stairs and walking long distances were challenging with muscle fatigue and chronic pain issues. She used a walker in high school and college then began using a mobility scooter in business school.

College and workforce accommodations

When Caroline was accepted to Harvard as an undergraduate, she met with the disability services office and arranged accessible housing and classroom accommodations, and she registered for the school’s accessible van service. She built a network of friends and mentors who prioritized her inclusion, hosting gatherings at accessible locations and pushing her to think bigger about her career.

During her sophomore year, she began working at a Harvard-affiliated nonprofit in a building without an elevator. Her colleagues moved the office from the third floor to the first floor for her.

“That was one of my first times navigating conversations about workforce accommodations,” she says. “I was very up front about what I needed.”

As Caroline began her career, she focused on building networks and connecting with programs that were committed to inclusion. She attended a fellowship through Live Connect, a program that partners high-achieving individuals with disabilities with companies committed to inclusion. “That program was great because I met a lot of peers with a variety of disabilities. It was powerful to meet peers at the same stage of career and ambition,” she says.

Caroline interned and eventually worked for J.P. Morgan before attending Harvard Business School and completing a fellowship in government with the City of Cambridge. She credits networking and connecting with others for opening the doors to these opportunities and shares that every company she worked for has been proactive in meeting her accessibility needs.

Bolstering the mind and building networks

Recognizing the importance of the mentors she has had on her journey, Caroline counsels parents of children with neuromuscular diseases to instill strong educational values and motivate their children to develop their passions and use accommodations.

“My advice is always to focus on the things you can do. In this day and age, we live in a society and economy that prioritizes the mind over body in many professions,” Caroline points out. “My husband and I both have successful jobs that we can do from home with a laptop. In terms of technology, the time to be working with a disability is now because it doesn’t have to impact your job prospects.”

For Caroline, the key to success has been focusing on the power she holds in the “mind economy,” surrounding herself with valuable mentors, friends, and family who support her goals, and seeking companies that welcome people with disabilities.

“Building that community has been the biggest thing,” she says. “Having a supportive network pushes you to do things you might not initially feel comfortable with so that you can continue to expand your comfort zone.”

Rebecca Hume is a Senior Specialist and Writer for Quest Media.

The post Young Leader Living with Muscular Dystrophy Champions Aiming High and Setting Goals appeared first on Quest | Muscular Dystrophy Association.

Phase 1 Clinical Trial: Recruiting

This study, called LUMINA, is testing an investigational therapy, called AMX0114, in adults with ALS. The main goal is to learn about safety and how well the treatment is tolerated. The study will also look for early signs that the therapy may help people with ALS.

Inclusion criteria include:

• At least 18 years of age
• Diagnosis of clinically definite or clinically probable ALS
• ALS symptoms began less than 24 months before starting the study

Overview

AMX0114 is designed to lower levels of calpain-2, an enzyme linked to nerve cell damage in people living with sporadic ALS. The researchers hope that reducing calpain-2 will help slow the progression of ALS.

This is a randomized, double-blind, placebo-controlled study, meaning some participants will receive AMX0114 and others will receive a placebo (an inactive substance). AMX0114 is delivered with an intrathecal injection (an injection into the fluid around the spinal cord in the lower back).

Timeframe

The total duration will be 25 weeks.

Location

14 sites in the US and Canada

Learn more

Visit ClinicalTrials.gov and enter NCT06665165 in the “Other terms” search box.

Contact

Amylyx Medical Director, 857-320-6200 or [email protected]

Phase 2a Clinical Trial: Results

Spinogenix, Inc., released topline results from a phase 2a study of an experimental therapy called SPG302. The data suggest it may help slow ALS progression.

Overview

In ALS, the connections between nerve cells, called synapses, start to break down. When synapses weaken or disappear, the cells cannot send nerve signals as well.

SPG302 is designed to help the body grow new synapses. Researchers hope that by building new connections between nerve cells, SPG302 may ease ALS symptoms and slow the progression of the disease.

Key points

• SPG302 is a pill taken by mouth.
• This was a randomized, double-blind, placebo-controlled study.
• In this study, SPG302 was taken daily and was generally well-tolerated.
• Most participants who received SPG302 had a stable or improved rate of functional decline.
• Compared with past data, people treated with SPG302 showed a significantly slower disease progression over six months.
• Brain electrical activity tests showed improvements in patterns linked to ALS, which may support the findings of slower functional decline.

Learn more

Visit ClinicalTrials.gov and enter NCT05882695 in the “Other terms” search box.

Duchenne muscular dystrophy (DMD)

Treatment News: New Drug Available

In December, Upsher-Smith Laboratories launched Kymbee, a new deflazacort oral tablet for people ages 5 and older with DMD. Kymbee provides another option for a widely used DMD corticosteroid treatment.

Overview

Corticosteroids like deflazacort have been a key part of DMD treatment for decades. In DMD, corticosteroids can reduce muscle damage and help patients keep physical abilities longer.

Kymbee is a new oral tablet form of deflazacort, which is also available under the brand name Emflaza in tablet and liquid forms.

Patients taking Kymbee will have access to Upsher-Smith’s Promise of Support program, which was created to help rare disease patients and families access medication and manage insurance challenges.

Learn more

Visit MyKymbee.com.

Contact

Upsher-Smith, 888-650-3789

Friedreich ataxia (FRDA)

Extension Study: Results

Larimar Therapeutics announced positive data from an ongoing long-term open-label extension study of an experimental therapy, called nomlabofusp, for FRDA. Results suggest that taking nomlabofusp every day may help improve symptoms.

Overview

The open-label extension study began in 2024 by enrolling adults who had completed earlier phase 1 or phase 2 nomlabofusp studies. Later, it expanded to include adolescents ages 12-17 and other participants who had not previously received nomlabofusp.

In FRDA, the body does not make enough frataxin, a protein needed for healthy cell function. Nomlabofusp is designed to deliver a form of frataxin made in a lab. The goal of increasing frataxin levels is to support energy production in cells and potentially ease FRDA symptoms.

Key points

• Nomlabofusp is administered as a daily subcutaneous injection (a shot under the skin).
• It can be given by the patient or a caregiver.
• All participants with at least six months of data had frataxin levels closer to typical healthy levels.
• After about one year of treatment, participants showed clinical improvement in FRDA symptoms.
• Nomlabofusp was generally well-tolerated, but a few serious allergic reactions occurred, prompting Larimar Therapeutics to modify the dosing regimen going forward.

Learn more

Visit larimartx.com/our-programs/cti-1601 or go to ClinicalTrials.gov and enter NCT06447025 in the “Other terms” search box.

Limb-girdle muscular dystrophy (LGMD)

Phase 3 Clinical Trial: Results

BridgeBio Pharma announced new interim results from a phase 3 clinical trial testing BBP-418, an experimental therapy for LGMD2I or LGMDR9 (LGMD2I/R9). BBP-418 showed signs of improving walking ability and lung function in people living with this condition.

Overview

The results came from the phase 3 FORTIFY trial. This study is testing BBP-418 against a placebo in adults and adolescents with LGMD2I/R9. BBP-418 is taken my mouth as a liquid solution.

LGMD2I/R9 is caused by mutations in a gene that makes an enzyme called FKRP. FKRP is needed for a process called glycosylation, where the body attaches sugar molecules to certain proteins. In LGMD2I/R9, a muscle protein called alpha-dystroglycan does not get the right sugar molecules attached.

Without proper glycosylation, the protein does not work as it should. This makes muscles more likely to become damaged over time, especially in the hips and shoulders. BBP-418 is designed to help the body increase alpha-dystroglycan glycosylation to protect muscles from damage.

Key points

• This was a randomized, placebo-controlled, double-blind study.
• The trial achieved its primary goal of showing BBP-418 increases alpha-dystroglycan glycosylation.
• BBP-418 also significantly reduced levels of creatine kinase (CK), a key marker of muscle damage.
• After one year, participants taking BBP-418 had better results on walking and lung function tests compared to participants in the placebo group.

Learn more

Visit bridgebio.com/lgmd2i-r9 or go to ClinicalTrials.gov and enter NCT05775848 in the “Other terms” search box

Myasthenia gravis (MG)

Phase 3 Clinical Trial: Recruiting

This study, called MyClad, is testing an investigational therapy, called cladribine, in adults with generalized MG (gMG). The goal is to see if it improves gMG symptoms and the ability to carry out activities of daily living.

Inclusion criteria include:

• At least 18 years of age
• Diagnosis of MG with generalized muscle weakness

Overview

In MG, the immune system damages or destroys receptors that help the body control muscles. Cladribine is designed to recognize and remove some types of immune cells that are attacking these receptors.

This is a randomized, double-blind, placebo-controlled study, which means that participants may receive either cladribine or a placebo (an inactive substance). The drug is taken by mouth.

Timeframe

The study will take approximately three years and involve a total of 23 site visits and telehealth calls.

Location

71 global sites, including 14 in the US

Learn more

Visit MyCladStudy.com or go to ClinicalTrials.gov and enter NCT06463587 in the “Other terms” search box.

Contact

EMD Serono, US Medical Information, 888-275-7376 or [email protected]

Phase 1/2 Clinical Trial: Recruiting

Cour Pharmaceuticals is recruiting adults with gMG for a study testing an experimental treatment, called CNP-106. The goal is to test the safety of CNP-106 and see if it can reprogram the immune system, addressing the underlying cause of gMG.

Inclusion criteria include:

• 18-75 years of age
• A gMG diagnosis and positive test for anti-AChR antibodies
• Participants must agree not to become pregnant or cause pregnancy during the clinical study.

Overview

Often in gMG, the immune system targets acetylcholine receptors (AChR), which are essential for communication between nerves and muscles. CNP-106 is a small, biodegradable particle that carries pieces of AChR. It is designed to instruct the immune system to recognize them so it does not consider them a threat. This should restore nerve-to-muscle communication and ease the symptoms of gMG.

This is a randomized, double-blind, placebo-controlled study, which means that participants may receive either CNP-106 or a placebo (an inactive substance).

Timeframe

The study involves up to 42 days for screening and 180 study days. Participants will receive the therapy via two IV infusions (a tube into the vein), spaced one week apart.

Location

17 sites in the US

Learn more

Visit CourPharma.com/patients/cnp-106-clinical-trial-in-myasthenia-gravis or go to ClinicalTrials.gov and enter NCT06106672 in the “Other terms” search box.

Contact

Joseph Mide, 281-254-6305 or [email protected]

Spinal muscular atrophy (SMA)

Treatment News: Drug Approval

In November, the US Food and Drug Administration (FDA) approved a gene therapy, called onasemnogene abeparvovec-brve (brand name Itvisma), for people ages 2 years and older living with SMA.

Overview

Itvisma is a formulation of Zolgensma, a gene therapy previously approved by the FDA for infants with SMA. Itvisma is the first gene therapy available for older children, teens, and adults with a confirmed mutation in the SMN1 gene.

Itvisma is a one-time treatment delivered with an intrathecal injection (an injection into the fluid around the spinal cord in the lower back).

Learn more

Visit itvisma.com.

Contact

Novartis Patient Support, 855-441-4363

Thymidine kinase 2 deficiency (TK2d)

Treatment News: Drug Approval

In November, the US Food and Drug Administration (FDA) approved a new therapy, called doxecitine and doxribtimine (brand name KYGEVVI®), for children and adults living with TK2d. This is first and only treatment for TK2d, an ultra-rare, life-threatening mitochondrial myopathy.

Overview

Individuals with TK2d lose a number of mitochondrial DNA molecules and the quality of their mitochondrial DNA degrades, causing progressive weakness. KYGEVVI® is designed to help the body restore healthy mitochondrial DNA. KYGEVVI® is taken by mouth as a liquid solution.

Learn more

Visit kygevvi.com.

Contact

UCB Cares, 844-599-2273 or [email protected]

Clinical Trial Terms to Know

Double-blind: Neither researchers nor participants know which participants are taking the drug or placebo.

Multiarm: Comparing several experimental treatments against a common control group within a single study.

Multicenter: The trial is completed at more than one site.

Open-label: Participants know what treatment they are receiving.

Placebo-controlled: Some participants receive the treatment being tested and some receive a placebo that looks like the real treatment but has no active ingredients.

Randomized: Participants are randomly assigned to groups taking the drug or placebo.

The post Progress Now: Research Updates and Breakthroughs appeared first on Quest | Muscular Dystrophy Association.

In 2026, MDA’s annual conference, which brings together neuromuscular researchers, clinicians, industry leaders, advocacy organizations, and community members, will be held March 8-11 in Orlando, Florida.

These three planned sessions (out of a packed agenda topping 30 sessions) highlight how discoveries presented at MDA’s conference are poised to transform real-world care.

Topic: Muscle Regeneration and Repair

Chair: Noah Weisleder, PhD, Professor and Chair, Molecular and Cellular Biochemistry, University of Kentucky College of Medicine

Dr. Weisleder will lead a discussion on the rapidly advancing science behind muscle regeneration. Dr. Weisleder studies how muscle fibers die in conditions such as Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophy (LGMD) and, just as importantly, how they may grow back.

This session will highlight two complementary therapeutic strategies:

1. Stopping muscle cells from dying by helping repair the outer membrane
2. Helping muscles grow back by activating special cells that build muscle tissue

Improving these two processes could benefit many different muscle diseases. Dr. Weisleder notes that this could spark new industry collaborations to develop widely applicable treatment approaches.

By sharing the latest discoveries in muscle regeneration and MDA-supported collaboration efforts, this session aims to move promising science closer to real-world therapies that strengthen and restore muscle.

Topic: Inherited Peripheral Neuropathies: Unique Challenges in Drug Developments

Chair: Brett Morrison, MD, PhD, Neurology, Johns Hopkins Medicine

This session, led by Dr. Morrison, will focus on inherited diseases that cause injury to peripheral nerves in the arms and legs, such as Charcot- Marie-Tooth disease (CMT). Because he treats patients with peripheral neuropathies and researches treatments to reverse nerve damage, Dr. Morrison understands the challenges and opportunities in this field from two key viewpoints.

Other speakers will share updates on current and future therapy development, including new treatments targeting CMT subtypes that are in phase 3 clinical trials. For example:

• Megan Waldrop, MD, will discuss a gene therapy trial for CMT type 2S.
• Evan Bailey, MD, will share updates on a novel drug approach for neuropathy caused by SORD gene mutations.
• Vera Fridman, MD, and Jasper Morrow, MBChB, PhD, will report on developing biomarkers to track whether treatment is working in conditions that progress slowly over time.

By addressing the promise and complexity of drug development for inherited neuropathies, this session illustrates how far the field has come — and how collaborative research continues to drive new hope for patients with these diseases.

Topic: Immune Response Considerations in Gene Therapy

Chair: Armando Villalta, PhD, Associate Professor, Physiology & Biophysics, University of California, Irvine, School of Medicine

Dr. Villalta will lead a discussion on one of the neuromuscular field’s most urgent frontiers: understanding and managing immune reactions to gene therapies. Dr. Villalta has spent more than 20 years studying the complex relationship between muscle disease and the immune system.

The session will focus on two key challenges in gene therapy that can make gene therapies less safe or less effective:

• Vector immunity — when the immune system reacts to a viral vector, such as adeno-associated virus (AAV), that is used to carry a healthy gene into cells
• Transgene immunity — when the immune system attacks a new, healthy protein the body makes, thinking it is foreign

The session will also feature presentations by leading researchers, including Melissa Spencer, PhD, and Dongsheng Duan, PhD, about progress in modeling immune responses and developing strategies to mitigate them. Understanding these reactions is critical to delivering gene therapies to more people safely.

The future of neuromuscular medicine

Together, these three sessions highlight how scientists are exploring bold, new ideas to improve the lives of people with neuromuscular diseases. By sharing their discoveries and learning from one another, experts can develop safer, more effective treatments and bring them to patients faster.

Every bit of progress gives hope for a future with better care, more options, and greater independence for everyone affected by neuromuscular diseases.

Rene Ryan is a writer for Quest Media.

The post MDA Clinical & Scientific Conference Sessions Drive Innovation in Neuromuscular Care appeared first on Quest | Muscular Dystrophy Association.

Grayson

Grayson was diagnosed with spinal muscular atrophy (SMA) through newborn screening and began treatment as an infant. Now, at 2, he is exhibiting typical toddler antics. “Part of me wants to scoop him up and celebrate because climbing a chair is something I once wasn’t sure I’d see,” says his mom, Alyssa Woods, of Conroe, Texas. “At the same time, I have to say, ‘That’s not safe.’ It’s a mix of pride and protectiveness all rolled into one.”

Diana

José

Siblings José and Diana Colón Vega, of Puerto Rico, who live with limb-girdle muscular dystrophy (LGMD), learned to drive their adapted van.  “It has not only given me the freedom to travel independently but has also fostered a sense of personal growth,” José says. “My journey has taught me that with perseverance and the right support, even the most daunting challenges can be overcome,” Diana adds.

Alexa

Alexa Dectis, of Los Angeles, couldn’t squeeze a tube of lip balm as her SMA progressed. “About a month into starting Spinraza, I mindlessly picked up an open tube of Carmex, squeezed, and applied. Suddenly, I realized that my muscles had gotten stronger,” she says. She posted about the experience on Instagram, and the maker of Carmex saw it and sent her a supply of their products.

David

“I love to be outdoors,” says David Daw, who lives with myofibrillar myopathy. In the fall, he and his wife spent a day at Angry Orchard in Walden, New York, with an accessible outdoor recreation group. “The orchard is absolutely beautiful, and the sunset was beyond amazing,” he says. “It was a very special moment in time.”

The post Community Members Share Their Everyday Milestones appeared first on Quest | Muscular Dystrophy Association.

Michael at spring training

The legendary NFL Head Coach and two-time Super Bowl Champion Vince Lombardi once said, “It’s not whether you get knocked down, it’s whether you get up.”

Sports have been a part of my life since I was a little kid. I can remember wanting to run out onto the crisp, freshly cut grass of a football or baseball stadium. I lived vicariously through the athletes I watched, as if I were lacing up those cleats and playing the sports I had come to love.

The only problem with this story, and what set me apart from those athletes, is that I was diagnosed at a young age with familial spastic paraparesis (FSP), also called hereditary spastic paraplegia (HSP).

FSP is such a rare disorder that the doctors first thought I had muscular dystrophy or cerebral palsy (CP), due to the muscle weakness and tightness in my lower limbs and fingers. They called it a “spontaneous mutation,” as they had no idea how to exactly diagnose me.

FSP causes muscles to weaken over time, just as muscular dystrophy does. Similar to those who have CP, my gait is abnormal, and I use leg braces to walk due to my weaker lower leg muscles. For reference, my calves and shins are so weak and skinny that one could make the OK sign with their middle finger and thumb around them.

Following my passion

As Lombardi said, “it’s whether you get up.” As a kid from Colorado who couldn’t compete on the field, I decided to persevere and be a part of sports anyway. In middle school, I was on the C team for basketball and participated in Special Olympics cycling, basketball, and baseball. In high school, I was a team manager for our football, basketball, and baseball teams, bringing equipment to practices and games.

When I went to college at Colorado Mesa University, again, I had to adapt. Like many college freshmen, I didn’t know what I wanted to major in, but that passion for sports was always in the back of my mind. I couldn’t compete in college-level athletics, so I did the next best thing: I earned my bachelor’s degree in mass communication with a concentration in applied media strategies. With a degree and coursework in this area, I could cover sporting events in the media.

I gained hands-on experience in my chosen field by joining our student-run college radio station, becoming the Sports Director during my junior year and calling sporting events live on air.

To make the most of this opportunity, I pushed, moving heaven and earth, to get our radio station the chance to travel to away games. The highlight of my college career was traveling with our small student-run operation to call a game for Colorado Mesa University’s women’s basketball team when they reached the Elite Eight (national quarterfinals) in the NCAA Division II Women’s College Basketball Tournament.

Building a career

Coming out of college, I only knew of one person in the sports world living with a condition similar to mine — and that is still the case today. Jason Benetti, who has CP, is a sports broadcaster for the MLB’s Detroit Tigers and Fox Sports. Seeing him motivated me to continue to use my ability to adapt to get into the professional sports world, too.

I was hired as a Trackman Data and Video Operator for the Colorado Rockies’ minor league affiliate, the Grand Junction Rockies. I attended home games and recorded every play, pitch, and at-bat using a radar dish and video camera. After games, I uploaded the data and recordings to a computer app so the team could review them and use them to work on each player’s game. The Grand Junction Rockies later became an independent baseball team called the Grand Junction Jackalopes. In all, I spent nine years with these teams.

My boss with the Colorado Rockies, who I am still close with today, didn’t see my physical limitations as a downside; he only saw my work history, perseverance, and passion for sports.

As I sit here today, I’m working to get back into the sports world after a hiatus in 2024. I’m marketing my experience and the media skills I learned in college. My goal is to be a part of a professional sports team’s social media squad.

Once again, I’m in that perseverance mindset, showing that even though I have physical limitations, I can be in the sports world, doing the same work others do, in my own way.

Michael Chamberlain, 35, who lives in Houston, has spent his career showing that people with disabilities can work and belong in sports. Follow him on X @mchamber1990, Instagram @m_chamber44, and TikTok @s3gwaymast3r44.

The post Sports, Disability, and Perseverance: How I Adapt to Stay in the Game appeared first on Quest | Muscular Dystrophy Association.

Angela Lek, PhD (left), and Monkol Lek, PhD (right)

However, if someone with Monkol’s family history and symptoms visits the doctor today, there’s a good chance they’ll get the same diagnosis in a matter of weeks.

Over the last 15 years, continuous advances in technologies for genetic testing and identifying disease-causing genes have dramatically improved the diagnosis of neuromuscular diseases. We are already seeing how this can reshape the rare disease diagnostic journey from a frustrating search for answers to a more hopeful quest to treat, care for, and thrive with a neuromuscular disease.

Next-generation gene sequencing

The technology currently used for diagnostic genetic testing is called next-generation gene sequencing. According to Angela Lek, PhD, MDA’s Chief Research Officer, who is married to Monkol, next-generation sequencing actually refers to a group of technologies that enable rapid reading of human DNA and RNA, including the whole genome and exome.

It’s a marked shift from reading genes one at a time, as was the standard practice before next-generation sequencing enabled reading multiple genes simultaneously. In terms of efficiency, it’s equivalent to moving from using the “hunt and peck” method on a keyboard to typing with all 10 fingers.

Chris Weihl, MD, PhD

“In previous genetic testing, you had to intentionally choose the gene you were testing based on what condition you thought the person might have,” says Chris Weihl, MD, PhD, a neurologist and Director of the MDA Care Center at Washington University in St. Louis. He explains that this could lead to a long, hit-and-miss process. “For example, for a disease like LGMD, there are more than 35 genes that can cause the same clinical features. You would choose a gene, and if you weren’t right, then when the patient came back to clinic, you would choose another gene. Now, we can test those 35 genes and more at once. It increases the likelihood that we’re going to identify a diagnosis and the rapidity of making the diagnosis.”

A genetic test that analyzes multiple genes to find genetic mutations associated with specific diseases is called a gene panel. Gene panels usually group together genes with known disease-causing mutations that lead to similar diseases. These panels vary from small, targeted tests (e.g., two genes for an SMA panel) to large, broad tests (e.g., more than 200 genes for a comprehensive neuromuscular panel). This allows doctors to use patients’ family histories, clinical examinations, and previous testing to make informed decisions about what gene panels to order.

Several sponsored genetic testing programs offer gene panel testing at no cost if a doctor orders it because they suspect a neuromuscular disease. MDA has an agreement with Invitae and Labcorp to offer the Detect Muscular Dystrophy Program at no cost at MDA Care Centers. This sponsored genetic testing program includes a comprehensive neuromuscular disease gene panel, as well as panels focused on LGMD, dystrophinopathies, and other muscular dystrophies.

“These panel tests for genes associated with muscle diseases and conditions that mimic them offer a cost-effective and efficient way to reach a diagnosis,” Monkol says.

Identifying genes

Stephan Züchner, MD, PhD

As the genetic testing landscape was evolving, scientists were also making dramatic strides in identifying genes that can cause diseases.

“The world of genetics in neuromuscular disease has really changed in the last 15 years,” says Stephan Züchner, MD, PhD, Chief Genomics Officer at the University of Miami Miller School of Medicine. “We went from knowing a few dozen disease-causing genes to hundreds.” That number continues to grow.

Changes in genes (called mutations or variants) are a normal part of the human genome, and many of these changes are harmless. Researchers determine that a variant is causing a disease when they observe that all people tested who have that variant have a particular disease, and people without the variant don’t have the disease.

“In neuromuscular disease genetics, we are looking for rare events,” Dr. Züchner says. When a disease or disease subtype affects only a few thousand people or fewer, it takes more time and testing to pinpoint the genetic cause.

Next-generation sequencing gives scientists the ability to look at more genes at once in more diverse groups of people, adding to the databases of human genetic data and the knowledge of which genetic variants are commonly found in which populations. This leads to more discoveries of disease-causing genes.

As disease-causing genes are identified, doors are opened to more gene-targeted therapies.

“Genetic testing and genetic therapy are two sides of the same coin,” Dr. Züchner says. “Very few gene therapies are on the market, but there are dozens and dozens in development, and companies are actively looking for new targets that they can develop gene therapies for. That’s why I think the discovery part is so important.”

Dr. Züchner gives an example of a 2020 research paper he co-authored on the discovery of mutations in the sorbitol dehydrogenase (SORD) gene that cause a form of Charcot-Marie-Tooth disease (CMT).

“It turns out this is the most common recessive type of inherited neuropathy,” he says. Because there are already approved drugs for other diseases involving the SORD gene, a treatment was developed quickly.

“Within six months of the publication, a company had begun clinical testing in patients of such a drug to test safety,” he says. This drug is now in a phase 3 clinical trial.

The importance of genetic diagnosis

Getting a diagnosis through genetic testing is the most accurate way to identify your specific disease and its cause. In addition to putting a name to your condition, having a genetic diagnosis may allow you to enroll in clinical trials for gene-targeted therapies and receive new therapies when they become available.

“A lot of new therapies are specific to a gene, or even a particular mutation in that gene that’s causing the disease,” Monkol says. Angela points out that insurance typically does not cover such therapies without a documented genetic diagnosis.

A genetic diagnosis may also help you proactively manage your condition. “In some diseases, there’s a strong correlation between the gene mutation and disease progression, so it allows you and your healthcare team to know, for example, if there are going to be cardiac complications 10 years down the line. Then they could have a plan to manage it even before it manifests,” Monkol says.

However, even with next-generation sequencing, not everyone who gets genetic testing receives a genetic diagnosis. “The gene panels only sequence what we know,” Dr. Weihl explains. “Even if I’m sequencing 180 genes, I’m only looking at those 180 genes.”

Humans have about 20,000 genes, and scientists have only identified a fraction that are associated with diseases so far.

New disease-causing genes are constantly being discovered, and gene panels are updated. Whether you have not had genetic testing before or you received inconclusive results from a previous test, it’s worth asking your care team about genetic testing. Dr. Züchner suggests reviewing prior inconclusive test results or repeating genetic testing about every five years until you receive a genetic diagnosis.

No matter your diagnosis, staying engaged with your MDA Care Center or neuromuscular care team not only helps you manage your disease but also helps you stay informed about ongoing research. Neuromuscular clinicians keep up-to-date on genetic discoveries, disease registries, enrolling clinical studies, and impending therapies.

MDA Care Centers also give you access to neuromuscular clinicians with training in genetics and genetic counselors. The growing complexity of genetic testing means a specialist is generally needed to order gene panels, interpret results, and deliver a genetic diagnosis. They can also counsel you before and after testing about what to expect and how to inform family members about the results.

Can diagnosis get even better?

While next-generation gene sequencing is enabling faster, more accurate genetic testing and diagnosis, it hasn’t yet eliminated the diagnostic journey.

For instance, it’s common for genetic test results to include a variant of uncertain significance (VUS), which means that a gene appears to have a variant; however, it is not known if that variant causes a disease.

According to Dr. Weihl, there is a need to continue sequencing more patients and healthy individuals from all areas of the world to deepen our understanding of the human genome and expand libraries of disease-causing genes and variants. This will lead to fewer VUSs and clearer genetic testing results.

Collaboration among scientists to collect and share data is an essential part of this process, according to Dr. Züchner. As an example, he points to the MDA-supported Genesis Project database, which allows researchers to upload deidentified genetic data and analyze the aggregated data. This platform has contributed to more than 100 discoveries of disease-related genes, including SORD neuropathy.

The next frontier in gene sequencing is long-read sequencing. This technology enables in-depth analysis of complex genetic changes on long stretches of DNA, such as repeats, deletions, or inversions. These changes need to be studied more in neuromuscular diseases.

Long-read gene sequencing is more expensive and requires powerful computers to handle large datasets, so it is currently used mainly in research settings. However, considering how rapidly this technology is developing, it might not be long before it appears in standard genetic testing.

A swifter journey

For all the talk of progress in genetic testing and gene therapy, it’s easy to lose sight of the fact that about 50% of people living with neuromuscular diseases do not have genetic diagnoses. And although MDA encourages community members to get genetic testing — and works to make it accessible and affordable to everyone — many people do not receive conclusive test results.

Still, the best bet to change an inconclusive result to a genetic diagnosis is to stay engaged with your neuromuscular care team and revisit genetic testing frequently.

“I want people to know that it’s not the end of the road if you don’t get a confirmed genetic diagnosis,” Angela says. “There are still so many things we don’t know, and there are a lot of patients still seeking answers. That’s where we look to the realm of research.”

Fortunately, the researchers in this article are among those pushing this realm toward better outcomes. The progress made over the past 15 years has changed the landscape of the diagnostic journey. The momentum the research community has achieved will only continue to improve the efficiency of genetic testing and, by extension, the experience of living with a neuromuscular disease.

Amy Bernstein is a writer and editor for Quest Media.

Words to Know

DNA: A molecule found in every cell that contains genetic instructions for the development and function of every part of the body

Exome: The part of the genome consisting of exons, which are the portions of genes that code information for making proteins

Genes: Segments of DNA that control the expression of one or more traits or functions

Gene sequencing: The process of analyzing sections of DNA

Gene panel: A type of genetic test that looks for variants in multiple genes, often grouped into a single test because they cause similar diseases or symptoms

Gene variant (or mutation): A change in the DNA code

Genetic testing: Medical testing that involves analyzing a genetic sample (such as a cheek swab or blood) to identify changes in DNA. This can help diagnose a genetic disorder.

Genome: The entire set of DNA instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes located in the cell’s nucleus.

RNA: The molecule in cells that copies, translates, and delivers DNA instructions for making proteins

The post The New Diagnostic Journey: Advances in Genetic Testing Speed Rare Disease Diagnosis appeared first on Quest | Muscular Dystrophy Association.

Charlotte on a walk in the botanical gardens

Alexa is Charlotte’s mom. She is” inching closer to 40 every day” and works as a product manager for a scientific publisher. Her favorite thing to do is make art with Charlotte and learn new crafts. We are currently exploring knitting!

When the MDA asked Charlotte and I to share our thoughts about navigating a rare disease diagnosis I said “yes!”.

I am saying “yes” to things this year.

I have said “no” a lot. No to social invitations, no to joy, no to commitments. Because everything – and if you also share a rare disease diagnosis, maybe you know – was just too much. But I think, after nearly ten years of Charlotte living with her LGMD2C diagnosis, that the secret, if I can be so bold, to navigating life with a rare disease is to say “yes” to as much as you can.

Early days of diagnosis

Looking back, getting Charlotte’s diagnosis felt like a giant, cosmic “no”. It meant that the future we imagined for her would get a lot harder, it meant the childhood we imagined for her would inevitably change, and it meant that a whole lot of things we took for granted weren’t guaranteed. In the early days of her diagnosis, I remember thinking, “How am I even supposed to do this?”

Charlotte (and mom) all dressed up for Halloween

Some of the early advice I received was to join online support forums for muscular dystrophy. We tried them – and maybe you’ve been where I was – but they weren’t what we needed at the time. Charlotte was diagnosed when her tiny little body went rigid with muscle cramps and she spiked a fever. She was admitted to the hospital and a clever geneticist observed her slightly enlarged calves and a CK that never “recovered”. We hadn’t experienced motor impacts and our only connection with the community was the diagnosis that we didn’t yet relate to.

I isolated myself. I am not the most social person to begin with, and I like to process alone – and this was a big, monumental thing to process. Charlotte was only two and a half at the time and our family had just moved to a new state, and we didn’t have roots yet. Isolating was the easiest thing to do. And maybe at the time it was the only thing I could do.

With a diagnosis like Charlotte’s, those roots end up in faraway places. Rare disease means that whatever life’s handbook is, you have to rewrite it. You plant roots in the places where you can both grow.

Learning to live a new normal

We spent a lot of time in denial, convinced that she would be less affected or that any day now there would be a clinical trial. Our denial was punctuated by bouts of rhabdomyolysis. (Rhabdomyolysis is a rapid breakdown of muscle (usually after a traumatic injury or intense exercise) that overwhelms the kidneys and can lead to kidney damage if not treated immediately.) Every time Charlotte got sick, we would pack up a bag for a few days in the hospital and prepare to explain what LGMD2C was and why we knew she had rhabdomyolysis. I remember once I spent months planning a joint birthday party with her best friend. They were turning five. Charlotte had to leave the party early, tears in her eyes after she mysteriously spiked a 104-degree fever. We waited in the ER in her party dress while she shivered in my arms.

Charlotte at MDA camp with her cabin counselors

It became hard to trust the people we should have been able to. Our faith in teachers and school administrators and doctors and nurses was replaced by hypervigilance and oversight. In the second grade, immediately after returning to school post-Covid, Charlotte would come home crying for hours every night, because gym class was too hard. She couldn’t jump on the trampoline and couldn’t roller skate. We asked the school to exempt her from gym class. They told us she was allowed to opt-out of activities but not allowed to leave the class altogether.

Navigating rare disease meant that we felt abandoned by the places where we were supposed to feel the most safe. Nothing was conventional and everything needed a new foundation. The way we learned how the world worked wasn’t reflected in this space and we needed to learn a new paradigm. And this new paradigm meant accepting that our lives would look different. We would need to unlearn what we knew and relearn new ways of interacting with the world.

I tried to protect Charlotte from the knowledge of her disease for a long time. I was struggling to wrap my head around what this diagnosis meant for her life, and I just wanted her to be a kid. I didn’t want her to think about what this might mean for her long term or internalize that she was different.

But she is different. And Charlotte wanted you all to know that this was the hardest part for her, too. That it was so hard for her to understand why she was different from her peers and why this disease happened to her. And looking back, she felt too young to understand but didn’t have a choice. She wishes she had more time with her muscles to be a kid; she doesn’t mind being disabled, but she doesn’t ever want to lose her independence.

Why am I sharing my thoughts like this?

Because navigating a rare disease diagnosis isn’t linear. There isn’t just one story to tell of how we went from the shock of the diagnosis in that doctor’s office in January of 2017 to organizing across the spectrum of Sarcoglycanopathies to help our children. It’s 1,000 little moments and small lessons that slowly build you into a new human. Just like new parents spend their children’s whole childhood learning how to parent, reflecting back on those years knowing that the lessons they learned were cumulative and hard won. The same is true for navigating a rare disease.

Saying yes

So, the meandering path to tell you about navigating a rare disease diagnosis was to tell you why I am saying “yes”. Because the most important things I learned were the things I never expected.

That one day, a girl named Blythe would text me and say that she also had LGMD2C and if Charlotte ever wanted to talk to her, that would be ok. She would go on to tell Charlotte that a silver lining of this disease is you always know who your friends are. I needed to hear that, too.

And that MDA Summer Camp would give Charlotte a sense of belonging that we had looked for in every corner of our lives but only found when she could be surrounded by kids that have lived the same experiences as her and where her disability didn’t mean she was singled out.

And that the Dion family would reach out to me to work together to take charge of how to get clinical trials to patient groups. And not only would they launch the first clinical trial for LGMD2C in the United States, but I’d get to work with them to help keep it going.

Charlotte at the aquarium

The nature of rare disease is that you won’t always find people with the same diagnosis near you, so maybe you’ll make friends with a mom whose child survived cancer and she will be one of the people in your life that you relate to most.

Finding a medical team that aligns with the goals you have for your child or that knows their diagnosis intimately is vital. You’ll form closer bonds with them than most people do with their physician’s office. They’ll get to know you and that’s important. A deep trust between your family and your specialists will help you ask questions without fear and make decisions with confidence.

You’re living life for the first time with a wrinkle that means many people in your life will not have any context for. There isn’t one right way to navigate this, but I can say from experience that isolation is one of the wrong ways – I learned the hard way – and maybe that’s just part of the process. You might need to go down a lot of paths to find the right one, but you can only do that if you say “yes” to something new.

The post MDA Ambassador Guest Blog: The Secret to Navigating Life with a Rare Disease? Say Yes. appeared first on Quest | Muscular Dystrophy Association.

“The 2026 MDA Clinical & Scientific Conference reflects the remarkable momentum of our field as treatments for neuromuscular diseases rapidly advance. Almost every major breakthrough in research, care, and treatment has roots in the connections and collaborations formed at this conference,” says Sharon Hesterlee, PhD, President and CEO, Muscular Dystrophy Association. “This year’s agenda highlights the innovation driving us forward—from gene therapies and disease-modifying drugs to transformative approaches in clinical care. The breadth of expertise represented by our session chairs and speakers underscores Muscular Dystrophy Association’s role as the central convener of the global neuromuscular community, bringing together the very leaders who are shaping the future of this field.”

Keynote Speaker: John F. Crowley

This year’s keynote presentation will be delivered by John F. Crowley, President and CEO of the Biotechnology Innovation Organization (BIO). His keynote, “Driving the Future of Innovation, Policy, and Patient Impact,” will explore how patient-driven advocacy, biotechnology entrepreneurship, and emerging technologies are transforming the landscape of medical research and care. He will highlight the vital role of organizations like Muscular Dystrophy Association and BIO in building a robust ecosystem that empowers early diagnosis, fosters equitable access, and accelerates the development of transformative therapies for rare and neuromuscular diseases.

“We are living in an extraordinary era for biotechnology—one where innovation, data-driven insights, and patient partnerships are transforming what’s possible for people living with rare diseases,” John says.  “For 75 years, the Muscular Dystrophy Association has embodied that spirit, fueling discovery, accelerating new therapies, and uniting a global community of scientists, clinicians, affiliated healthcare providers, advocates, and families. I am honored to be part of this important conference and look forward to a lively gathering that deepens relationships, moves science forward and builds the types of partnerships that will transform the standard of care for patients around the world.”

Conference Agenda

Conference programming boasts seven tracks with multiple, topic-specific presentations from expert chairs. Planned tracks include:

• Allied Health
• Amyotrophic Lateral Sclerosis (ALS)
• Care Trends
• Disease Mechanism & Therapeutic Strategy
• Drug Development Considerations
• Lab to Life
• Neurology

You can view the full agenda and session topics online here.

Collective advocacy through the NeuroMuscular Advocacy Collaborative (NMAC) at Conference

Alongside the scientific sessions and research updates, an equally powerful convening takes place: the annual meeting of the NeuroMuscular Advocacy Collaborative (NMAC). This gathering unites more than 30 patient advocacy organizations to align on shared policy priorities and strengthen the collective voice of the neuromuscular community.

Conference registration

The conference will be held March 8-11 in Orlando, Florida. Detailed information about the conference and registration can be found here.

Members of the neuromuscular disease community registered with MDA are welcome to participate in the virtual conference at no cost or attend in person at a discounted rate offered for patients, caregivers, and MDA volunteers until allotted spaces are filled. People living with neuromuscular conditions and their  families interested in attending virtually or in-person, please complete this form prior to registration. Once verified by MDA, individuals will receive a separate email containing a registration link for the 2026 MDA Clinical & Scientific Conference.

The post Everything You Need to Know About the Upcoming 2026 MDA Clinical & Scientific Conference appeared first on Quest | Muscular Dystrophy Association.

Me and the girl in the white leather jacket.

In May of 1981, I met the love of my life, Christine Maria Humrich.  As is typical with most great stories of enduring romance, ours started in a bar.  Daddy More Bucks was its name, on Old Highway 66 in Flagstaff, AZ.  It was across the road from Andy Womack’s Pink Flamingo Motel (painted pink as pepto-bismol), where I was held up for a week or so while waiting for the dorms at North Arizona Univeristy (NAU) to open for the summer semester.

The Thursday night DJ at Daddy More Bucks offered up a mixture of new wave and punk hits of the time, which drew a lot of locals and NAU students out for the evening to pack the large, accommodating dance floor.  Showing up strictly as an observer on a few of those Thursday nights, I repeatedly started to notice one young lady in particular.  She wore a white leather jacket, had short, cropped black hair with a blue streak running through it, and (more so than anyone else out there) could truly dance to the music being played.  I became infatuated.

Goofing around at Camp Rainbow Gold’s summer oncology camp for teens.

I suppose I should point out here that I moved to Flagstaff from Boston, and apparently (at least according to the locals) had a bit of a thick accent.  So as the story goes, after a couple of times watching the girl in the white leather jacket dance, I got up the nerve to ask her onto the floor.  She was standing with two friends when I approached her, and being the helpless romantic that I am, simply said: “Pardon me, my name is Jeff Thomas, and I just requested ‘I Want to be Sedated’ by the Ramones.  Will you please dance with me?”  (Now keep in mind here that I was a ‘chowdah-head’ and fresh off the boat from Bean Town, so difficulty in translation inevitably ensued.)  All three of them began laughing hysterically.  Then, while looking at me with a combination of confusion and amusement, she sarcastically asked me (and I quote), “WTF did you just say to me?”

Starting 2026 off right!

Although my confidence was shaken and I started to seize up inside, I didn’t flinch and calmly repeated myself.  She laughed again, thought a moment while smiling, then sweetly replied, “Sure, why not?”

Almost 44 years later she still laughs at me and still questions just what it is that I’m trying to say to her.  Most importantly, though, despite the fact I can no longer get out on the floor, she’s still the only one I would ever want to dance with.

I share this somewhat comical love story as encouragement to others to always remember to show the ones we love the appreciation that they justly deserve. I think that appreciation is especially valuable for partners of those living with neuromuscular disease. Christine endures the emotional and sometimes physical challenges of witnessing my disease progression, and she does it all with an endless supply of grace. Her love and support remain a constant in my life – helping me through every step of the journey. And I want her to always know just how much I appreciate having her by my side. I love her more than anything and her love adds light and joy to my life. Though I’m confident that I could live without seeing, swallowing, or walking, I know that I couldn’t live without her.

Spending time with family at our nephew Max’s graduation from NAU in Flagstaff (my alma matta!)

So, in honor of Cupid’s Holiday, I encourage all of us, no matter what the situation, to never cease showing appreciation for the ones who are always there to provide the love and support we need to make it through.  The journey for those of us living with NMD is not an easy one.  Nor is it easy for the ones who have chosen to stay beside us on this uneasy sojourn.  What a wonderful time to let them know how loved they are.

Happy Valentine’s Day.

JT

The post MDA Ambassador Guest Blog: Grateful for the One by My Side on Valentine’s Day (and Every Day) appeared first on Quest | Muscular Dystrophy Association.

This is a new iteration of the lawsuit Texas v. Kennedy, formerly Texas v. Becerra, in which the states argued that 2024 updates (described in Quest blog linked below) to Section 504 are unconstitutional. While some of the original states have withdrawn their claim, the remaining states – Texas, Alaska, Florida, Indiana, Kansas, Louisiana, Missouri, Montana, and South Dakota – continue to challenge the rule.

The Health and Human Services (HHS) rule at the heart of the action requires states and local governments, and any entity receiving HHS dollars, to serve people with disabilities in the most integrated setting appropriate, and that entities risk violation of Section 504 when people with disabilities are placed at risk of unnecessary institutionalization.

The revised complaint requests that the Court declare all of the Section 504 rule unlawful; prevent HHS from enforcing the rule in its entirety; and prevent HHS from requiring states to not take actions that lead to a serious risk of institutionalization for people with disabilities. If successful, it could make it harder for members of the neuromuscular community with disabilities to enforce their right to live in the community, not in isolating long-term care facilities, and receive equitable access to care and services.

Also, because Section 504 is incorporated into nondiscrimination provisions of federal law, this decision may have far reaching consequences such as limiting access to robust ACA plans or limiting accessibility standards in private healthcare settings. This is at odds with MDA’s mission, which is to empower people affected by neuromuscular conditions to live longer, more independent lives.

MDA continues to actively monitor the legal landscape and anticipates further developments to come as briefing continues. In late January, MDA submitted comments to the Department of Health and Human Services urging the Department not to repeal the expansion of nondiscrimination updates in the 2024 Final Rule, which Quest initially wrote about here.

Sign up for MDA’s Action Network to stay up to date on the latest news and for opportunities to take action.

The post Recent Updates with Section 504 appeared first on Quest | Muscular Dystrophy Association.

Elizabeth Madole at the 2025 MDA Clinical & Scientific Conference in Dallas, TX.

At only 12 years old, Elizabeth is already making her mark on scientific research through her collaboration on a case-based physiological study on respiratory aspects of neuromuscular disease and co-authoring of a scientific abstract to share those findings. Diagnosed with AChR antibody–positive generalized myasthenia gravis herself, the California native is motivated by her own patient experiences, the support of incredible mentors, and a deep desire to make a positive impact on patient treatment and outcomes.

Elizabeth has traveled to numerous scientific conferences, including the MDA Neuromuscular Symposium in Dallas (2025) and the Stanford Neuromuscular Symposium (2025). She recently spoke on a patient panel at UCSF, where she shared her experience living with neuromuscular disease and her treatment journey with an audience of more than 150 medical students. This March, she will be attending the MDA Scientific Conference in Orlando, FL, where she will present an abstract and poster, as a co-author with her neurologist, about respiratory monitoring in myasthenia gravis.

We checked in with Elizabeth to learn more about her journey, research, personal motivation, and her dreams for the future.

When did you first become interested in participating in medical research and why?

I think I have always been interested in medicine, but I didn’t always know what that interest would turn into. As I got older and lived longer with myasthenia gravis, I started to realize that many of the tools that doctors typically rely on don’t always show how sick someone with a neuromuscular disease can actually be.  I could feel my breathing getting weaker, but things like oxygen saturation still looked “normal.”

There were times when I was in respiratory failure, even on maximum non-invasive ventilation, with abnormal blood gases showing that I was still hypercarbic (which means that my body couldn’t blow off carbon dioxide the way that it needed to). And the numbers that doctors usually rely on (oxygen sats) didn’t reflect how severe my exacerbation was – and, unless you are in the ICU, blood gasses aren’t done all the time. That made me start wondering if there was a better, more objective way to understand what was really happening.

That curiosity is what pulled me toward medical research. I want to help find better ways to measure and recognize what patients are experiencing so treatment can happen earlier and more safely.

You are currently collaborating with a physician on a case-based physiological study on respiratory aspects of neuromuscular disease. What does that entail?

I am working with my neurologist, Dr. Alex Fay, MD, PhD, who is part of the team at the MDA Care Center at UCSF Benioff Children’s Hospital. He is the best doctor in the world. He is very influential in neuromuscular medicine, but what matters most to me is how much he truly cares about his patients. No matter how busy he is, he always finds time and he always shows up. He always lets me ask questions and makes me feel like this research matters, even though I’m young.

Elizabeth with Dr. Alex Fay, MD, PhD, in 2022, at her first MG Foundation of America Conference.

Our study uses AVAPS ventilator data to better understand respiratory muscle weakness and response to treatment in myasthenia gravis in an effort-independent way. (AVAPS stands for Average Volume-Assured Pressure Support. It is a mode on a noninvasive ventilator that uses an algorithm to automatically adjust the amount of pressure support it provides.) In our study, we look at measurements like peak inspiratory pressure (PIP), minute ventilation (MV), spontaneous breaths, negative inspiratory force (NIF), and MG-ADL to see how breathing and weakness change during flares and how they improve with treatment.

How did you become involved in the study?

Dr. Fay and I both noticed patterns in my ventilator data during times when my breathing and weakness got worse. It happened every flare. One day he showed me a graph that he had made, and I pulled out my laptop and showed him that I had made almost the exact same graph. In that moment, I remember thinking it was really cool that I had done the same thing as Dr. Fay with my data. It made me realize that I must have been on the right track and that what I was seeing was important.

We decided that day that we should write an abstract together, and that’s where it began.

What does the study aim to achieve?

The goal of the study is to show that ventilator data can provide a continuous, effort-independent way to measure breathing strength and response to treatment in myasthenia gravis. Right now, most of the tools that doctors use depend on how hard a patient tries, which isn’t always reliable.

By using AVAPS data, we hope to give doctors a more objective way to understand what is really happening with a patient’s breathing so treatment decisions can be made earlier. I hope it helps make care safer and more objective for MG patients and maybe even people with other neuromuscular diseases too.

What has your role been like?

It’s been fun and challenging. I’ve had to learn a lot of new things and also learn how to separate my emotions from the data, which was kind of hard to do at first. I help gather and analyze data, talk through the results with Dr. Fay, and learn what really goes into doing research. I’ve also gotten to talk about this work with neurologists from many different institutions. Being part of this gives me a real sense of purpose.

I’ve also always noticed patterns and connections, even when I was little. My brain just likes to organize things and see how they change over time, and it turns out that’s really helpful in science, which is probably why I noticed what I did.

So far, what has been the most rewarding part?

Elizabeth and Dr. Alex Fay, MD, PhD, at a 2025 MDA Symposium at Stanford University.

I would say having the chance to make a meaningful difference and knowing that this research could actually help someone else. If it helps a patient or their doctors recognize what’s going on sooner and start treatment earlier so things don’t become life-threatening. That would make this work completely worth it. Being really sick or ending up in the ICU is not fun at all, so if this research can help prevent that, that would be amazing.

I also love learning new things and realizing that I can do more than I ever thought I could. It feels good to know that something I went through can turn into something that helps other people.

What are you most excited about in the current research and treatment landscape?

Well, lots of things are exciting! Like, how targeted treatments are becoming and how fast science is moving to make new medications. I hope more of them can be used in kids and that insurance is less of a problem one day. Every conference I go to gives me more hope.

I also believe there will be a cure for myasthenia gravis one day, and hopefully for all neuromuscular diseases. My mom has taught me that hope is important, because hope is what keeps you from giving up, even when things get hard.

It’s also kind of fun learning how to say all the medication names, like eculizumab, ravulizumab, rituximab, obinutuzumab, daratumumab, and nipocalimab. There are even more that I’m still practicing and learning about. Sometimes people think it sounds like another language when I say them, which makes me laugh. The fact that so many treatments already exist, and that even more are being studied right now, is really exciting.

Why do you want to become a doctor?

I’ve wanted to be a doctor for as long as I can remember. I even dressed up as one every year on Career Day when I was little!

But living with a serious illness showed me what that dream really means. I’ve seen how much it matters when a doctor listens, believes you, and doesn’t give up on you. I want to use science and my own experiences to help patients feel seen, believed, and have access to treatment that makes them better in the same way my doctors have done for me.

Five-year-old Elizabeth dressed as a doctor for Simpson University’s Career Day.

What specialty do you plan to pursue?

I plan to go into pediatric neurology. I want to become a neuromuscular doctor just like Dr. Fay, and I’m also very interested in research. I’m excited for the day that I get to put on my white coat and help kids like me. I hope all the people who have been part of my journey, and who helped me believe I can do this, will be there that day.

How will living with a neuromuscular disease make you a better doctor?

Living with a neuromuscular disease has taught me more than I could ever learn from a textbook. It has shown me how important it is to listen and really see the patient, not just the labs. It has helped me understand how illness affects everyday life, and that having a disease doesn’t make life less, it just makes it different.

When I was seven years old, I didn’t care what my diagnosis was called. I could barely even pronounce it at first. What I did know was that I could barely sit up, I choked when I tried to drink water, my vision was blurry, and I couldn’t even play at the park anymore because my arms and legs were so weak and tired. What I wanted was a doctor who would help me get better and never give up on me.

I think that’s what every person sitting in front of a doctor really wants. They don’t just want a name for what’s happening, but someone who is willing to fight for them. I want to be that doctor for my patients one day.

Living through what I have lived through will help me treat the person in front of me because I know that behind every chart, every test, and every lab is a real person who just wants to be heard, understood, and to feel better.

I also want to bake cookies for my patients during the holidays so they know I see them as a person, not just a patient. My neurologist did this for me, his other patients, and his staff, and it has always meant so much to me. Sometimes it’s the little things that matter the most.

Do you have mentors or role models who have encouraged you?

Of course, I have so many but here are a few that stand out.

Dr. Alex Fay, MD, PhD has been my biggest role model and mentor. He has always believed in me, even before I knew how to believe in myself. He reminds me that I am capable and that I can make a difference, even when things feel really hard. Somehow, he has always helped me stay positive. He taught me how to write a scientific abstract step by step, and how to think about data in a real and honest way. It’s not something that has to be perfect, but something that tells a story about what is actually happening to a patient. He showed me that the patterns I noticed were real, and that they could matter in ways that might change how doctors take care of people. I have learned so much from him, not just about science, but about what it means to truly care for patients. He is thoughtful, kind, and never gives up on you. I look up to him more than I can explain, and I hope that one day I can be even a little bit like the doctor he is.

Elizabeth with Dr. Michele Long, MD.

Another doctor who has made a huge impact in my life is Dr. Michele Long, MD (UCSF). She is one of my favorite people. She is silly, energetic, and very direct. She tells you how it is, but at the same time reminds you that you can do hard things. She is the kind of person who will get her shift covered just to show up across the city to watch me speak to a room full of medical students or be the first one jumping up and down when she hears I’m writing a scientific abstract. She even wore my Halloween costume for me one year when I was too weak to put it on. I don’t think she will ever really know how much her support means to me or how much she has shaped the kind of doctor I want to become, even if I might never have as much energy as she does. She has taught me that having a diagnosis doesn’t define what I can do in life; it’s about what I do with what I’m given.

Along my journey, I also met Dr. Remu, a resident at UCSF who focuses on genetics. He has his own medical condition, so he really understands what it’s like to go through hard things. When I talk to him, I never feel alone because he just gets it. He also talks with me about normal life, like hockey and traveling, not just medicine, and that means a lot. He shows me that it’s okay to be human with your patients, not just their doctor. Because of him, I know that my own journey will help me connect with my future patients in a real way, and that’s exactly the kind of doctor I want to be.

Elizabeth studying with Ms. Erika during one of her treatment cycles.

From the beginning, I’ve also been lucky to have mentors who aren’t doctors, but who have shaped me just as much. Ms. Erika is my hospital schoolteacher at UCSF and is one of my biggest inspirations. Ms. Erika works through UCSF Benioff Children’s Hospital and connects with my home district to keep me on track with schoolwork during admissions, infusions, and long hospital stays. She has been my hospital teacher since I was seven years old and one of my biggest supporters. She cheers me on whether I’m working on a scientific abstract or beating my Wordle streak. I actually think she would sometimes prefer that I skip my afternoon math lesson and get ice cream with a friend. She reminds me to be a kid, which is something I really need sometimes. When I’m sick, she makes me feel like that’s okay too, and that it’s okay to put my books down and rest. She makes me believe I can accomplish anything I dream of. She didn’t just help me with school; she helped me become confident in who I am. I couldn’t imagine having a better teacher, mentor, or friend.

You have also attended MDA Summer Camp over the years. How has your experience at Camp shaped you or helped you grow?

At Camp you see how much people care, like really care, about each other in a way that’s hard to explain unless you’ve been there. It allows you independence, helps your confidence grow, and provides space to just be yourself. At camp everyone understands what it’s like to live in a body that doesn’t always do what you want it to do. You are just simply understood there. It’s a feeling that’s hard to find anywhere else.

My weeks at camp have helped me realize just how capable I am. It’s the only place I’ve ever been where I’ve felt that kind of connection. It is truly the best week of my life every single year.

Elizabeth and her sister, Charlotte, with counselors at MDA Summer Camp.

Why do you think women make great STEM professionals?

Women bring perspective. Doctors like Dr. Alice Chan and Dr. Long inspire me because they are smart, strong, and compassionate. They care about the science, but they also care about the people, and that really matters. I remember when I was really sick a couple of years ago and scared to get a line placed in my neck, Dr. Chan called me just to help me feel less afraid. I can’t really explain her empathy in words, but that day she made me feel okay.

Women notice details, ask important questions, and bring empathy into everything they do, including science. When you see problems from different perspectives, science becomes better. My own perspective is different too, and I think that makes science stronger. Women belong in every part of STEM.

What advice would you give to other young women in STEM?

Don’t let anyone tell you that you don’t belong or that you are limited in any way. I promise you can do anything you dream of doing. Don’t let people make you feel like you’re too young, or even too old. Ask questions. Follow your curiosity. Your experiences matter.

Also, be okay when your interests change or grow, just like mine did. I always knew I wanted to be in medicine, but I didn’t know what that would look like, and now I do. STEM is kind of the same way. Science changes every day, and every time it changes, we get one step closer to a cure. And that’s pretty amazing.

The post International Day of Women and Girls in Science: MDA Spotlight on Elizabeth Madole appeared first on Quest | Muscular Dystrophy Association.

With so many valuable podcasts, blog articles, and magazine articles available to our audience, chances are that you may have missed one or two pieces of interesting content. Check out the summaries and links below.

In case you missed it… Quest Blogs:

How to Choose a College with a Disability

Along with the basics of finding a good college match — location, affordability, size, academic and cultural fit — students with disabilities must do some extra digging. To choose a college that best fits their needs, students with disabilities should visit college campuses in advance and use these tips to assess their accessibility and inclusiveness. Read more. 

What to Know Before You Start Adaptive Driving 

For people living with neuromuscular diseases, driving can be more than a convenience — it can be a road to independence. Read expert and community member advice on the steps to take for adaptive driving evaluations, equipment, modifications, and training before you get behind the wheel. Read more.

In case you missed it… Quest Podcast:

Episode 59 – Redesigning the Day: Accessibility and Mindset Life Hacks with Jax Cowles

In this Quest Podcast episode, we chat with public speaker, consultant, and disability advocate, Jax Cowles. Jax shares an honest, thoughtful, and deeply creative conversation about daily life, independence, and problem-solving.  She opens up about how creativity and “life hacking” became essential tools rather than optional skills, and how small, low-cost adaptations can completely transform everyday tasks. Jax shares her experiences, expertise, and advice when it comes to practical insight, encouragement, and a refreshing perspective on living creatively and fully—exactly as you are. Listen here.

In case you missed it… Quest Magazine Featured Content, Issue 4 2025:

The Hidden Power of Self-Care in Caregiving

Caregivers often give so much of themselves that sometimes their own needs fade into the background. Yet the stories shared here reveal a powerful truth: Caring for yourself is not selfish — it’s essential. Four family caregivers candidly share the everyday ways they incorporate self-care into their lives, so they can continue to give their best to their loved ones. Read more here.

The post In Case You Missed It… appeared first on Quest | Muscular Dystrophy Association.

Celebrating early victories on previous priorities

2026 got off to a quick start as MDA and its advocates worked hard to pass the following priorities. Included in a bill that passed earlier in February were:

• $48.7 billion National Institutes of Health (NIH) funding – In addition, the bill included language limiting bureaucratic interference at the NIH.
• The Accelerating Kids’ Access to Care Act – This bill will make it easier for children living with neuromuscular diseases to access out-of-state care without unnecessary delays.
• Rare Pediatric Disease Priority Review Voucher Program reauthorization – Extending this program will encourage the development of life-changing treatments for rare pediatric diseases, including neuromuscular diseases.

Continuing to protect the community’s access to vital medical care

We expect to continue to see proposed changes to the nation’s health care system that could negatively affect the neuromuscular community. MDA and its advocates will continue to defend vital programs.

• Effects of 2025 Medicaid legislation – Last year, Congress passed many changes to Medicaid that will make accessing vital care more burdensome and even eliminate important benefits that are important for those who rely on the program. As decision-makers work to implement these changes, MDA and its advocates will continue to fight for ways to ensure the neuromuscular community can continue to receive vital Medicaid benefits.
• Enhanced advanced premium tax credits – These vital tax credits that help people afford insurance on the Affordable Care Act Marketplace expired in 2025. MDA will continue to push for reauthorization to ensure people can access vital insurance coverage.

Empowerment and increasing access in 2026

MDA and its advocates will work with decision makers at the federal level to improve care and support policies that will empower the neuromuscular community, including:

• Fully supporting caregivers by passing legislation that removes hurdles in accessing vital assistance and advocate for measures that promote financial support.
• Continuing to improve air travel for the disability community by ensuring full implementation of the 2024 FAA Reauthorization Act and robust enforcement of previous Department of Transportation regulations.
• Supporting policies that ensure those with disabilities can access quality education.

Over the next twelve months, MDA and advocates will be advocating for ways to improve access to treatments and therapies, including:

• Reauthorizing the ACT for ALS, which will accelerate access to much-needed therapies for the amyotrophic lateral sclerosis (ALS) and neuromuscular disease communities.
• Laying the groundwork for FDA user fee agreements, which must be passed by Congress in 2027. This is an opportunity to continue to reform how FDA does its work to ensure we can get much needed therapies to the NMD quicker.
• Expanding access to genetic testing and counseling, multi-disciplinary care, wheelchair repair, gene therapies, home and community-based services, and more.

Ensuring Everyone Can Vote

In 2026, the country will make their voices heard in midterm elections. However, we know that casting a ballot can be challenging for those living with a disability. This year, MDA will continue to provide resources and information so that our community can truly access the vote.

MDA and its advocates are ready to go, but we need your help, We need as many people speaking up as possible and raising their voices. Sign up today and make sure key decision-makers hear your voice!

The post Our 2026 Advocacy Agenda appeared first on Quest | Muscular Dystrophy Association.

Living with a rare disease, I learned early on that I wouldn’t just have to fight against my own body, but against the world I live in, too. As a Black disabled woman in America, that fight extends far beyond my diagnosis. It shows up in the systems not made for people like me that I have to navigate and in the assumptions people make about my worth and ability. But within that reality, resilience wasn’t something I discovered by accident or in spite of my circumstances – it was something I developed because of them. Navigating healthcare systems, inaccessible spaces, and rigid stereotypes forced me to learn perseverance early, shaping how I move through the world and pursue my goals with intention, determination, and strength.

Persevering with intention

Gabrielle on a plane as she prepared to go skydiving, a dream she had since she was 10 years old.

Pursuing my education and career has never been just about talent or motivation; it has required constant recalibration. Living with a rare disease means my capacity isn’t fixed; it changes day to day, sometimes hour to hour. Deadlines don’t pause for my chronic pain and academic or professional spaces rarely account for bodies that need flexibility to function. I’ve had to learn how to plan further ahead, advocate more clearly, and push back against systems that equate worth with constant productivity. The cost of ambition, for me, often looks like exhaustion that others don’t see, extra time spent explaining my needs, and the emotional labor of proving, over and over, that my disability doesn’t negate my work. It’s through navigating these challenges that I’ve learned how to persevere with intention, finding ways to keep moving forward without abandoning myself in the process.

One of the most persistent misunderstandings about ambition and disability is the belief that determination should look the same for everyone. In academic spaces, this often shows up as rigid expectations that leave little room for adaptation, even when those expectations actively exclude disabled students. When accommodations are treated as exceptions rather than necessities, disabled ambition is framed as a problem to be solved instead of a reality to be supported.

I encountered this mindset firsthand during my undergraduate studies as a music therapy major, a field that allowed me to integrate two things I’ve always loved: psychology and music. Music has been a part of my life for as long as I can remember. My mom says I was singing before I could talk, and I saw music therapy as a meaningful way to connect with others. That path began to unravel in guitar class. Because my disability causes muscle weakness, pressing down on the strings of an acoustic guitar with enough force to produce sound was physically difficult, and the instrument itself was larger than my body. As my video assignment grades declined, the impact of my disability became increasingly visible. Still, when I explained my limitations, my professor insisted that I prove my disability was the reason I could not perform. After escalating the issue to the department head, I was offered a digital guitar as an accommodation. When I brought it to class, the professor refused to allow its use, citing a syllabus requirement that only acoustic guitars were permitted. In that moment, it became clear that the issue was not my willingness to work or adapt, but an unwillingness to recognize that success might look different for me. The stress of watching my grades fall, and fearing the loss of my scholarship, took a serious toll on my mental health, leading me to seek emergency counseling on campus.

Redefining resilience and redirecting your path

Gabrielle joyously celebrating at her graduation from the University of Louisville in May of 2024.

I eventually changed my major and had to come to terms with the fact that this was not a failure of ambition or giving up, but an act of perseverance and self-respect. That experience forced me to redefine perseverance, teaching me that resilience does not always mean pushing through harm at all costs. Sometimes, it means redirecting your path while holding onto your purpose. I went on to graduate with a degree in psychology and a minor in music, carrying forward the parts of myself that mattered most, even when the original path was no longer accessible.

I am now pursuing a master’s degree in counseling, a field that allows me to integrate my passions for psychology and music while helping others navigate the challenges that often feel invisible to the world. My path has not been linear, and it has required recalibrating my goals, navigating unwelcoming systems, and redefining what success looks like on my own terms. Yet these obstacles have not diminished me or my determination, they have sharpened it, teaching me perseverance that is intentional, embodied, and rooted in the realities of my life. Living with a rare disease has not only shaped the ways I persist, it has given me the resilience to pursue my dreams fully, in ways that are authentic to who I am.

The post MDA Ambassador Guest Blog: Pursuing My Dreams While Living with a Rare Disease appeared first on Quest | Muscular Dystrophy Association.

Symptoms and subtypes of myotonia congenita

Most people with MC begin experiencing muscle stiffness in early childhood, although onset may occur later in some cases. This stiffness can affect many parts of the body, including the face, tongue, and eyelids, hands and feet, and the arms and legs. People with MC often have enlarged (hypertrophic) muscles, but stiffness in these muscles leads to problems with coordination, quick movements, and the ability to relax muscles after use. Affected people may have trouble releasing their grip after a handshake, closing or opening their eyes, or walking smoothly. Many experience weakness specifically when starting a movement.

The symptoms of MC often worsen in cold temperatures. Repeated movements, however, typically improve muscle stiffness caused by MC; this is known as the warm-up phenomenon. While MC is a lifelong condition, it is usually non-progressive, which means that it does not worsen over time. As a result, many people with MC can adjust to living with this condition and maintain their daily functions long-term.

There are two main forms of MC, Thomsen disease and Becker disease, which differ in inheritance pattern and disease severity. Common features of these forms include the following:

Thomsen disease

• Autosomal dominant inheritance (one mutated gene copy causes the disease)
• Often less severe
• Begins earlier in life
• Does not involve muscle weakness

Becker disease

• Autosomal recessive inheritance (two mutated gene copies cause the disease)
• Often more severe
• Associated with pain, transient weakness, and occasionally, progressive weakness of distal muscles (hands, feet, lower arms/legs)

For more information about myotonia congenita symptoms, as well as diagnostic and management concerns, an overview can be found here.

Cause of MC

MC is caused by mutations in the CLCN1 gene, which encodes the ClC-1 chloride channel in muscle tissues. The condition primarily affects striated muscles, which include the skeletal muscles required for voluntary movements and the cardiac muscles required for pumping blood throughout the body. The ClC-1 chloride channel plays an important role in the ability of muscles to relax after contraction. When the channel does not function properly, muscles have difficulty relaxing, leading to stiffness.

Diagnosis of MC

MC is typically diagnosed using a variety of assessments including a thorough medical and family history, complete clinical examination, electrophysiological testing, and confirmatory genetic testing.

In people with MC, nerve conduction studies (NCS) are usually normal, while electromyography (EMG) shows characteristic signs of delayed muscle relaxation (myotonic discharges). A short exercise test (SET) often shows a brief drop in muscle response after exercise that improves with repeated movements and worsens with cold. Given that similar symptoms can occur in other muscle disorders, such as myotonic dystrophy or sodium channel myotonia, genetic testing is typically used to confirm the diagnosis.

Current management of MC

There are currently no FDA-approved treatments specifically for MC and management focuses on controlling symptoms. Appropriate neuromuscular care is critical in developing a tailored management plan for each affected person.

Some pharmacologic treatments are available to help reduce muscle stiffness and improve function. Sodium channel–blocking medications are the main treatment options. MC therapies include:

• Mexiletine, a sodium channel blocker approved in Europe
• Lamotrigine, a sodium channel blocker that may be used if mexiletine is not effective or tolerated
• Other sodium channel blockers such as ranolazine, carbamazepine, quinine, and phenytoin, which may help select patients
• Acetazolamide, which works by a different method and is an alternative to a sodium channel blocker

It is important to note that these medications can affect heart rhythm and liver or kidney function, so ongoing monitoring and care are essential.

Non-pharmacologic strategies are also important for managing MC. These may include avoiding exposure to cold, keeping muscles warm, using the warm-up phenomenon, and maintaining a regular, moderate exercise schedule. Paying attention to diet, hydration, and lifestyle factors can also help manage symptoms.

Evolving research and treatment landscape

Pre-clinical research into MC is progressing on a several fronts. Researchers continue to identify new MC-causing mutations within the CLCN1 gene. They are also working to figure out how these specific mutations disrupt chloride channels and cause MC symptoms. Other efforts are using induced animal models of MC to study pathways that lead to specific symptoms, such as pain, with the goal of testing future therapies in these models. These and other studies are helping to understand the genetic and physiologic mechanisms that contribute to MC.

Clinical development for MC is still in its infancy. Most current therapies for MC, including mexiletine, lamotrigine, and ranolazine, are used off-label, meaning they are not yet FDA-approved for this purpose. Clinical trials have been completed or are ongoing to confirm their efficacy in people with MC. Furthermore, some studies are exploring the use of exercise interventions to improve symptoms of MC.

To learn more about clinical trial opportunities in MC, visit clinicaltrials.gov and search for the specific disease name (e.g., “myotonia congenita”) in the condition or disease field.

MDA’s work to further cutting-edge IIM research

Since its inception, MDA has invested more than $2.5 million in MC research. Through strategic investments from MDA, partner advocacy groups, and the National Institutes of Health (NIH), MC research is slowly advancing. While new therapies remain a long-term goal, ongoing research efforts offer hope for meaningful advances and improved care for those living with this condition.

MDA’s Resource Center provides support, guidance, and resources for patients and families, including information about myotonia congenita (MC), open clinical trials, and other services. Contact the MDA Resource Center at 1-833-ASK-MDA1 or [email protected].

The post Simply Stated: Understanding Myotonia Congenita appeared first on Quest | Muscular Dystrophy Association.

Kurt Aguilar and his wife, Cathryn Domrose, in Vigo, Spain, before starting on the Camino de Santiago de Compostela. (Photo by Rebecca Taggart)

Every year, hundreds of thousands of people embark on a challenging journey to traverse the Camino de Santiago de Compostela, traveling days and weeks on foot to arrive in Santiago, Spain. The pilgrimage, which consists of multiple trails leading to the burial site of Jesus Christ’s disciple James, serves as a spiritual journey for many. The trek provides the opportunity to challenge oneself while immersed in the beauty of the Spanish countryside and the tranquility of nature.  With journeys ranging all the way up to 600 miles long, a variety of routes lead travelers through Spain’s beautiful towns and villages with many rural miles between.

While some portions of the trail include paved roads, large sections of the journey consist of narrow footpaths and uneven terrain. The nature of the journey creates accessibility barriers for people with physical disabilities. As a full-time power wheelchair user, Kurt Aguilar hadn’t considered that completing the Camino was even a possibility for him – until a friend made him realize that it was possible and he learned of a non-profit helping people living with disabilities to do just that.

Making dreams a reality

Kurt, a 72-year-old retired journalist who lives with congenital myopathy, splits most of his time living between San Francisco, California, and Valencia, Spain. When a close friend in Spain, whom he affectionately refers to as a “Camino-nut”, heard about wheelchair users completing the Camino on one of her own treks, she learned that there are organizations helping wheelchair users make the incredible journey.

Kurt did some research and found DisCamino, a non-profit based in Vigo, a port town in western Spain, that is dedicated to assisting travelers with disabilities to travel the Camino. The agency helps to plan the route, coordinate hotel rooms and stopping points in towns along the path, and provides volunteers to travel side-by-side with adventurers with disabilities on the journey, offering hands-on assistance as needed.

Kurt taking photos of the scenery on his journey.

“They have volunteers who will go along with you every step of the way on the Camino” Kurt says. “They’ll transport you, they’ll take your luggage, they’ll do it on your time. And they do all of that and won’t take any money for their services. They are just amazing.”

The organization, founded by a man named Javier Pitillas, started eighteen years ago when Javier met a man who was deaf and blind and wanted to complete a pilgrimage on the Camino. Javier learned to communicate with him through touch and accompanied him on the journey in order to help the man realize his Camino dreams. By the end of the trip, Javier was inspired to make it his mission to help other people living with disabilities to access the beautiful adventure.

“Since then, DisCamino has taken more than 600 people on over 150 different trips,” Kurt shares. “They’ve assisted people using wheelchairs or adapted tricycles on trips to the top of the two highest peaks in Spain. They did a trek from Rome to Santiago with disabled people and another one that circumnavigated Spain – from Vigo all the way down to the south and then around the country. They do more than just the Camino, they will do whatever someone dreams up.”

An incredible journey

For Kurt, that dream became completing a 12-day, 60-mile trek on the Camino with stops to explore small towns along the way. He and his wife partnered with DisCamino to plan their route and in June of 2025, they embarked on the journey of a lifetime.

“Normally the stages for this Camino are 15 miles each, but most electric wheelchairs can only go about 9 miles on a charge. They had a van that took us to the starting point of the Camino and then the van would pick us up after the 9 miles and take us back to the previous accessible hotel. The next morning, they would drive us to where we stopped off and we would continue that way,” Kurt says. “Every day they had two to three volunteers going along with us. They also gave me lists of hotels to contact because there are not a lot of accessible hotels out there, so they helped us to find towns with accessible hotels and book rooms there.”

Kurt traveling through the rain on the Camino. (Photo by Javier Pitillas)

In addition to his wife and the DisCamino volunteers, another traveler with a disability named Dabiz joined the group on their pilgrimage. Dabiz, a former research scientist living with amyotrophic lateral sclerosis (ALS), is also a disability rights activist. The two men bonded on their journey, overcoming obstacles and barriers, celebrating victories, and soaking in the beauty of the incredible landscape.

The volunteers provided both men with assistance on the trail, walking alongside them and advising of upcoming muddy areas or uneven ground. Dabiz’s full-time assistant walked with him as well. As the two men navigated miles of changing terrain, the volunteers kept a hand on each of their power wheelchairs to help prevent spin-out and positioned themselves on every turn so that they could physically redirect the chairs if needed. When approaching rain culverts, the volunteers determined if the chairs could go over the waterway or not, lifting the front wheels or manually pushing the chairs when needed.

“The most amazing instance of their assistance was when they carried me across a little river,” Kurt shares. “There was a stream that was a couple yards wide, maybe 8-10 feet wide and a foot deep. It didn’t look that terrible, but a power wheelchair can’t get wet so Javier and Dabiz’s assistant did this maneuver that they call the “royal chair”. They put their arms under my thighs and their hands on my back, and I put my arms around their necks and they carried me across the water. There was this little makeshift bridge where my wife and the other volunteers carried my wheelchair across to the other side and the guys redeposited me in the wheelchair. There were hundreds of other things that they did on the journey – watching out for roots in the road, stopping and keeping chair from going too fast down slippery slopes, and stuff like that – every step of the way.”

A scenic view from the Camino.

The group endured rainy days, navigated cobblestone and dirt paths, covering degraded pavement and gravel along portions of the journey – and appreciating sections of paved country road when they encountered it. All along the way, the beauty of Spain captivated the group. In addition to the lasting friendship that Kurt and Dabiz developed over the course of their adventure, the beauty of the landscape was Kurt’s favorite aspect of the incredible trip. From the beautiful gardens accompanying the picturesque homes that they passed on the trail to the tiny wildflowers blanketing rolling fields in a dazzling array of color, immersing himself in the stunning beauty of nature was an experience that Kurt will treasure forever.

“Where we spend most of our time in Spain it is hot and dry,” Kurt says. “But the area along the Camino is so amazingly verdant and has so many flowers. I took this one photo of the landscape, looking through the trees with the mist in the late morning air and the fog burning off and still rolling on the ground. I sent the photo to a friend, and she thought it was AI because she couldn’t believe that anything could be that pretty.”

An opportunity for advocacy

While the terrain proved to be the biggest obstacle on their journey, a barrier they faced entering the town of Santiago provided Dabiz with an opportunity to advocate and educate for accessibility.

Kurt in front of the cathedral in Santiago at the end of the journey.

When the entourage arrived at their destination after twelve days of traveling and visiting small towns along the way, they encountered a large stairway leading to the grand entrance of the town. The top of the stairway offers travelers an incredible view as they enter the town, a breathtaking celebration at the culmination of their arduous journey. However, wheelchair users could not make the grand entry because navigating the large stairway was not an option. They would be forced to go around the side and enter the town through a much less majestic vantage point.

Dabiz learned that, until about fifty years ago, there had been a ramp instead of a stairway but the municipality had wanted to discourage cars from using the ramp so they replaced it with a massive stairway.  Irate at the lack of access, Dabiz entered the town and performed a demonstration in the town square, meeting with the Mayor of Santiago and educating others on the importance of access for people living with disabilities. Dabiz’s efforts exemplified the DisCamino motto: Don’t let anyone tell you that you can’t.

A world of possibilities

Kurt’s motivation to embark on the challenging journey was straightforward, a simple reasoning that many able-bodied travelers and adventurers take for granted – he wanted to complete the Camino simply because he could.

“I had never really thought about it until my friend said that people in wheelchairs could do it,” Kurt says of traversing the Camino. “I had never been able to hike or spend a lot of time in nature. Traveling in Spain is great and I can get to many places by train, but I can’t really get out into the little villages with a wheelchair. Just the idea that I could be out and doing this trek that is such a big deal to so many people made me think that I should do it. I have never thought I could do it – but with the help of the volunteers at DisCamino I realized that I could. It really opened my eyes to possibilities.”

At one point on the journey, Kurt expressed a desire to make a donation to DisCamino. Javier graciously informed Kurt that they receive sponsorships and implored Kurt to find a place within his own community that might benefit from his donation instead. The value of the assistance that the volunteers provided Kurt and the pure altruism that the organization demonstrated reinvigorated his faith in others. And the opportunity to complete a pilgrimage that previously seemed inaccessible to him cemented the realization that anything is possible.

Kurt rides a camel in Morocco.

“This really opened my eyes to what possibilities there are even with great limitations,” Kurt says. “Being able to go on the Camino inspired me to take another leap and go on a trip to Morocco. I was even able to get on a camel and sit on it! I connected with an organization that does wheelchair accessible Moroccan tours. They designed an accessible seat with a four-point seatbelt so that you can ride a camel. A year ago, I would never have even thought of considering riding a camel in Morocco.”

For Kurt, DisCamino made the impossible possible and opened a world of possibilities. He wants others living with disabilities to know that when it comes to seeking new experiences and adventures – nothing is impossible.

The post Making the Impossible Possible: One Man’s Journey on the Camino de Santiago de Compostela appeared first on Quest | Muscular Dystrophy Association.

MDA’s 2026 National Ambassador Lily Sander

Lily Sander, an 18-year-old living with Charcot-Marie-Tooth disease (CMT) has already made an undeniable impact, dedicating her time and talents to valuable advocacy efforts and sharing her story and personal life lessons as a 2025 National Ambassador. Lily raised her voice and shared her expertise at conferences, advocacy events, and community events across the country in 2025. She offered intimate insights and advice in her Quest Blog series Life with Lily, sharing her perspectives on the power of representation, the importance of accessing education, advice to parents, and her unwavering passion for advocating for disability rights. As the year drew to a close, Lily and fellow 2025 National Ambassador Ira Walker joined the Quest Podcast to share their experiences and reflections on a monumental year.

Now, as she gears up to embark on her second year in this role as the 2026 MDA National Ambassador, Lily is poised to continue her journey of advocacy, connection, and community leadership. Throughout the year, she will continue to speak on behalf of MDA, meeting and connecting with families, advocates, and supporters while amplifying the stories of people living with neuromuscular disease.

“I’m incredibly honored to continue as the MDA National Ambassador for a second year,” Lily says. “As I get ready to head to college in the fall, advocacy and policy work have become an even bigger part of my life — because I want the next generation of students with neuromuscular conditions to have the access, support, and independence they deserve. I’m excited to keep using my voice to make change and to represent this community that has given me so much.”

We checked in with Lily to learn more about what being a National Ambassador means to her – and what’s in store for the year ahead.

As you continue your role as National Ambassador in 2026, what is the biggest change you hope to help drive for the neuromuscular community?

As I continue my journey in 2026, my primary focus is to advance MDA’s mission of fostering longer, more independent lives for our community. I am particularly driven to empower the next generation of advocates, ensuring young people have the tools and confidence to lead. I am inspired every day by the brilliance and beauty of the neuromuscular disease community, and I hope to empower others to lead with the same authenticity and strength that this community has so generously taught me.

What was the most memorable or impactful moment being an ambassador this past year?

The most impactful part of this year wasn’t a single moment, but the cumulative power of every conversation and connection I’ve made. There is a profound, healing energy in simply being in each other’s presence; realizing that this connection is happening on such a large scale has been the most transformative experience of my year as National Ambassador.

How has living with CMT shaped the kind of advocate you want to be? Was there a moment when you realized you were making a real difference?

Lily advocating for disability rights at the U.S. Capitol

CMT has given me a front-row seat to the challenges of accessibility and the importance of research, shaping me into an advocate who leads with lived experience and an intimate understanding of the struggles of those in the neuromuscular community. Having this deep understanding allows me to more effectively advocate for the change I’d like to see for those living with neuromuscular disease. I realized I was making a real difference, not in one grand moment, but through the quiet, consistent connections made with community members. When someone reaches out to say that seeing my journey helped them feel less alone or more understood, I know that my work is creating the community and healing we all deserve.

When you imagine the future of disability rights, what does success look like to you?

Success looks like a future with groundbreaking medical treatments and cures, paired with a society that truly understands and embraces disability. It looks like universal accessibility and the creation of a world where every individual is empowered to live their life fully, authentically, and without barriers.

As a young advocate, what do you think your generation brings to disability and health equity conversations that others may have missed?

My generation brings a raw authenticity and vulnerability that hasn’t always been present in advocacy. By “pulling back the curtain” on our daily lives and experiences with neuromuscular disease through social media, we’ve moved beyond the status quo to share the real-life human experience. We are masterfully using digital platforms and unique candor to fundraise, build connections, and ensure that our stories are truly understood on our own terms.

For other youth who want to begin their own advocacy journey, what is a good first step if they don’t know where to begin?

The best way to start is to dive in and find your community. Sign up as an MDA Ambassador to connect with a community of like-minded community members. From there, stay active by engaging with blogs and webinars, attending local events, and using your social media platform to amplify our mission; your voice is more powerful than you think!

What issue facing the NMD community feels the most urgent to you right now?

Medicaid and NIH funding are vital to the neuromuscular disease community, providing the essential coverage and research needed to sustain our lives. Medicaid ensures we have access to the daily care and specialized equipment we deserve, while NIH funding drives the medical breakthroughs and treatments that offer hope for the future. Protecting these vital resources is not just a policy issue; it’s about ensuring we can live with the dignity, independence, and health we all deserve.

(Watch Lily’s recent advocacy campaign video in support of NIH research funding here. )

You’re applying to college to study policy and law—what inspired those goals, and how do you see them tying into your work with MDA?

My personal and academic ambitions are the same: to drive systemic change for members of the neuromuscular community. As I look ahead to my professional future, this goal is manifested through law and policy. Living with a physical disability has exposed me to the realities of inaccessibility, funding cuts, and structural barriers that my community faces daily. From a young age, I candidly understood these challenges and felt a deep-seated desire to act. With this goal at the forefront of my mind and work, I am intentional with how I engage with MDA’s advocacy endeavors (such as advocating in DC with MDA On the Hill). Truly learning and better understanding how to make my goal a reality from those doing the work I aspire to do has been essential.

What gives you the most hope about where research and treatments for neuromuscular diseases are heading?

I find the most hope in the unstoppable momentum sparked by our community’s tireless advocacy. We have pushed research to a tipping point where life-changing breakthroughs are no longer just possibilities but are happening now.

What do you want your legacy as National Ambassador to be when you look back years from now?

I want to leave behind a legacy of sincere connection and growth. I want people to see an Ambassador who was always learning, listening, and engaging; someone driven by a genuine desire to give back to the community that has shaped who I am today.

The post What’s Ahead for Your 2026 National Ambassador appeared first on Quest | Muscular Dystrophy Association.

Read the interview below or check out the podcast here.

Mindy Henderson: Welcome to the Quest Podcast, proudly presented by the Muscular Dystrophy Association as part of the Quest family of content. I’m your host, Mindy Henderson.

Together, we are here to bring thoughtful conversation to the neuromuscular disease community and beyond about issues affecting those with neuromuscular disease and other disabilities and those who love them. We are here for you to educate and inform, to demystify, to inspire and to entertain. We are here shining a light on all that makes you, you. Whether you are one of us, love someone who is, or are on another journey altogether, thanks for joining. Now let’s get started.

Today’s guest is someone who doesn’t just talk about inclusion. She designs it, lives it, and invites all of us to imagine it differently. Jax Cowles is a speaker, consultant, and disability advocate who uses creative storytelling, organizational strategy and her expertise in architectural and fashion design to challenge the way we think about the challenges that come along with living with a disability.

Diagnosed with spinal muscular atrophy at just 20 months old, Jax began sharing her story early in life, speaking at schools and community events to show that being different isn’t something to hide. It’s something to celebrate. From her early school days to serving as a 2024 keynote gala speaker, Jax has long been a proud and powerful voice within the MDA community. Through her travels from London to Paris to Amsterdam, Jax explores and highlights accessibility around the world, reminding us that nothing is impossible when you’re the writer of your own story.

She believes that accessibility should never be a question and that with the right tools, information and mindset, we can build a more inclusive world, not just by thinking outside the box, but by breaking the box altogether. I’m so excited for you to hear her perspective, her creativity, and her unapologetic approach to redefining what’s possible. Please join me in welcoming Jax Cowles.

Jax, I’m so excited you’re here.

Jax Cowles: I am so excited. Thank you so much for having me. Hello to everyone out there listening. I can’t wait for us to dive in together.

Mindy Henderson: Yes. I have so many questions for you. And you and I have actually known each other for a while. We’ve been acquainted, and then we met finally in person at a conference last year, and I was absolutely blown away. I started asking you about different things on your chair and how you do this and that, and we were fast friends. And I’ve continued to poke you and bug you about how could I make this work or what should I do about this? And you are just one of the most brilliant and creative problem solvers I have ever come across.

So let’s just start off with a little bit about you and what your daily life looks like. If I’m not mistaken, you live in New Jersey and work in New York, which is the epitome of hustle and bustle. And in a lot of ways, it may make things, I would guess, both easier and harder at the same time for someone living life from a wheelchair. What does a day in the life look like for you?

Jax Cowles: Well, first of all, thank you for all the wonderful compliments. I accept all of them. Thank you. Thank you. It’s so funny to go back and think about it because I feel like it’s something I may not think about on a daily basis, which everyone has their moments. We have those things where we think about today’s a really difficult day or frustrations, but I was honestly brought up where you figure it out and that there was no choice but to figure it out. So if you wanted to do something, you were doing it. And if something wasn’t accessible, we were making it accessible.

So I think that that mindset was given to me at such a young age, and it’s actually something that was given to my parents from my doctor that said, “Do not allow any excuses, if I can give you one set of advice, and to really push her to do everything that she wants to do and to figure it out.” My parents and my family took it to heart, and it’s the best thing they ever did for me because I now, without really thinking about it, I just figure it out. If something isn’t accessible, we make it accessible.

And at the same time, I understand that we’re not yet at a place where everything in the world is accessible. It would be great if it was, but the fact is, is that it’s not. So I’m very lucky that I have worked across a few different industries, entertainment, sports, fashion, also have done a lot of consulting and brand engagement. And I think across it all, every industry comes with its own positives and negatives when it comes to accessibility for what is available.

But at the same time, it really gives me that great 360 to bring everything that I’ve learned into what I do. And as you said, commuting and living in different cities and living in different states and working in different states and things like that, each one is very unique. So when I lived in Florida, it was a very different commute than working, let’s say, in New Jersey where I currently live now, or even working here and traveling and commuting into the city, there are things. And of course, weather is always a wonderful add-on to how you make things accessible or not.

Mindy Henderson: So very out of our control too.

Jax Cowles: Yes, weather is definitely always something. I try to simplify everything I do the most that I can so that accessibility is not overwhelming. It doesn’t have to be. We just need to simplify the way that we look at things.

Mindy Henderson: Well, and I want to reiterate something that you said because it feels to me like problem solving and creative thinking are part of your DNA with the way that you grew up. And it sounds like we had some similar experiences and came from similar families in that my parents also, I think one of the biggest favors that they did for me was to not let me make excuses not to do something because it was hard or it was inaccessible or whatever. Like you said, we just figured it out and that was the only option, really.

Jax Cowles: Yeah, and it’s something as small as my cousins were roller-skating outside and because of the way we were all brought up and that Jax will figure it out and she is supposed to be a part of everything, I remember putting skates on my feet, putting my feet to the ground and wheeling around in my chair. And in my mind, I was skating exactly the same as everybody else. It wasn’t like, that silly. It’s like, no, it’s not silly.

Mindy Henderson: No.

Jax Cowles: I’m a big believer in doing small things. So if you go to a yoga class and you want to meditate, give yourself that same environment. If that means putting a mat down for you and wheeling your chair over it or putting a chair on top of the mat, you do it because there is no reason not to.

Mindy Henderson: I love it. I absolutely love that. So gosh, so many questions. Just starting with daily living itself, and then we can go almost top down and get more and more narrow and specific about some of the hacks that you’ve come up with for yourself. But let’s start with transportation because that’s a biggie for so many people in the neuromuscular community, just getting from point A to point B. And of course, it varies according to where you live, like you also alluded to. How do you handle transportation or can you give us some different looks at different ways that you’ve approached transportation depending on where you lived?

Jax Cowles: Yeah, so transportation, of course, is something that is huge, right? It’s how we get around on a daily basis, and it’s so important to be able to have accessible transportation. But not just accessible transportation, but transportation that actually works, right?

Mindy Henderson: Right.

Jax Cowles: Every state, at least in the US, has to have some type of accessible transportation. A lot of times when you do transportation through the state, you get a giant four-hour window that is like, by the way, we might come at 1:00, but we also might come at 5:00, so make sure you give yourself four hours before you have to be somewhere, and it’s not great.

Mindy Henderson: Yeah, and if you have a job interview, that doesn’t work.

Jax Cowles: Exactly. It’s just not realistic. Not everyone, and I want to preface this, is that not everyone can always afford all the different ways that there are to make life accessible. Unfortunately, accessibility does sometimes come at a cost, just like everything else in life. And I think that some of the ways that I do it is I have a wonderful set of transportation options to make sure that my life is accessible for me. So I think, first and foremost, hiring great care is really important. And I always preference when I hire someone that they are a PA, a personal assistant that also does care.

Mindy Henderson: I do the same.

Jax Cowles: I think that a lot of times when people hire a caregiver, it is just that. It is a caregiver, someone that is caring for you. And that’s not necessarily what you always need as someone with a disability. I don’t need someone to care for me. I need someone to help me with things that I can’t do. So I think it’s really important to preface that and to make sure that the people that you hire have flexibility and are able to give you that independence.

I also have an amazing driving service that I use, and they will actually drive my vehicle. It is something that they offer to all of their clients. But if you do not have someone in a company that automatically gives that to all their clients, I do suggest calling a travel service, a transportation service and asking if they are willing to drive your vehicle because that’s the vehicle that is accessible for you to use. And sometimes you have to be prepared. They might say no because of insurance purposes, but other times you might be able to work something out great and be able to do it.

Mindy Henderson: That never would have occurred to me, ever. How-

Jax Cowles: It works really well. It’s really helpful. I’m able to call someone. Of course, you pay hourly or by the day or whatever the trip is. They come, they pick up me and my car, and we go wherever I need to go. They’re there. I feel very important that day when I have a driving service. You feel so important being driven around, but it really does make things really accessible for you and helpful. So that’s something I do. Also, before-

Mindy Henderson: Let me stop you for one second because I’ve got questions about that. How does it work if, let’s say you’re going to go to a movie and you need start to finish, maybe the movie is two and a half hours and they come pick you up in your car and then drop you at the movie, they’ve got your car. How does that work?

Jax Cowles: They hang out with your car. They wait.

Mindy Henderson: They do, okay.

Jax Cowles: Yeah, they wait, which is very nice. They wait. They find parking. They hang out in the area, all of that, which is wonderful. It’s a really wonderful service to have.

Mindy Henderson: Amazing.

Jax Cowles: I suggest people looking in their areas for driving services that are willing to use your car instead of their own.

Mindy Henderson: Wow.

Jax Cowles: Every time I travel, I also make sure that I check taxis, Uber, Lyft. Unfortunately, in New Jersey, there are no Uber and Lyfts that are accessible and no taxis, so I have to use driving services. When I fly to Orlando, there are handicapped cabs, Ubers and Lyft’s everywhere I go. So it’s not that difficult. It makes accessibility really easy. So it just depends on where you are. Same thing with London. Every single cab in London is wheelchair accessible, every single one.

Mindy Henderson: I heard that.

Jax Cowles: Yep.

Mindy Henderson: That’s amazing.

Jax Cowles: Every single one has a ramp that they can put up.

Mindy Henderson: That is how it should be.

Jax Cowles: Yeah, it’s amazing. So I think that no matter where you travel to, where you live, just look up transportation and find out something that works best for you so that you can go. If not, hire a PA that is willing to drive. Hire multiple PAs so that you have backups and people that can be on call so that if a friend calls you, you want to go out to dinner, you can do it, and you don’t have to ask family or friends to pick you up if you want that independence.

Mindy Henderson: Right. So you’ve mentioned caregivers and personal assistants a few times, and you’re the only person I’ve ever spoken to who also calls their caregivers personal assistants. And it’s because they help me with so much more than just caregiving or personal care. I love that.

Talk a little bit about, if you don’t mind, because caregivers or assistants, whatever you want to call them, is another hot topic right now. They can be hard to find. People have different situations going through state agencies or employing them privately, and there are a lot of different ways to do it and a lot of options. Can you talk about what you’ve done over the years?

Jax Cowles: Yeah, where do I get started?

Mindy Henderson: I know.

Jax Cowles: I’ve tried every single thing you can imagine. I am very lucky right now that I have the most amazing PA, and I have had some wonderful PAs that I’ve worked with in the past as well that I had for so many years and so thankful for each one of them. I think that as much as they are here to help, I also learn so much from them. Everyone does something a little bit different. So I like to say that I’ve taken a little piece of the way that each one of them has done something with me to the next.

Mindy Henderson: Nice.

Jax Cowles: And a few of them I definitely still keep in contact with to this day, which is wonderful. I think that a few things. So you have to look at financially-wise what works for you.

Mindy Henderson: Right.

Jax Cowles: That’s first and foremost.

Second, I think you need to look at what is available where you live, different states, different rules, different options available to you. So I think those two things are number one.

Then I really suggest writing a list. What are the things that would make you feel the absolute most independent? And that’s what I go by. What are my basic needs that I need for living that I know I can’t do myself? And then what are the things that make me feel mentally and emotionally independent because that’s so important to feel independent.

Mindy Henderson: I don’t want to get too nosy, but can you give me a few for examples of what those mental and emotional things are that you keep front of mind that help you to feel independent when you’re hiring someone?

Jax Cowles: Yeah, so I like to be a part of every single thing that I do. I always say that I’m hiring people to be my hands. That is exactly how I do it. So if I am asking for help with my laundry, that helps me be more independent, I don’t want to have to ask. If I’m living with a roommate, I don’t want them to have to do it. If I’m with family, I don’t want them to have to. I do not want anyone to have to have an obligation to do things that I can do independently with a caregiver or a PA.

So I’m a part of it. I have them go in with me. I go through my laundry together. We decide darks, lights, however, oh my God, they’re washing my clothes, and we do that because that’s how you feel independent. At least that’s how I feel independent. Not by other people just doing things, but being a part of everything. I think that really stems, as I was saying before, back from my parents.

As soon as I could be, I was a part of every single IEP meeting at a very young age. Even in elementary school, even if I didn’t know what was going on, I was a part of the decision of how my accessibility was. No one ever did it for me, and I think that’s important. Be a part of everything you do.

I absolutely love to cook. It is my favorite thing. And when I invite people over and I am cooking, or whatever it is, yes, I am not physically stirring the pot and flipping the steak or whatever, but the people that are there are helping me physically. And they will say, “Oh my God, Jax made the most incredible dinner,” or whatever it is. Physically, they did it, but that meal wouldn’t have came out the way it came out if I wasn’t hand in hand. So I think that’s where I talk about what makes me feel independent and I’m doing something with a PA, or whatever you may be, compared to I need help getting dressed in the morning. That’s more tactical.

Mindy Henderson: Right, okay. That makes a lot of sense. And it’s funny because I’ve got just a running joke with my assistants because I also love to cook, and I’m there telling them how much oregano I want and all of that. And so I had one that started calling me the head chef and they were the sous chef that was doing all the chopping and the mixing and stuff. So yeah, I love that you do the same thing.

Jax Cowles: Yeah, and it’s fun.

Mindy Henderson: It is fun. It’s so much fun.

Jax Cowles: I love it. I can drink my glass of wine and cook all at the same time. It’s wonderful.

Mindy Henderson: Exactly, I love it. How do you decide when something is worth hacking and finding a way to do it yourself and putting in the time and the energy and the time spent looking for products and things that you can make shift to be what you need it to be? And then when you decide it’s better just to ask for help or let someone else just handle it, even though you may be right there by their side, how do you decide which is which and what gets your energy?

Jax Cowles: So timing, to me, is everything, and the end result is let’s take, for example, and over the past few years my arms have gotten weaker.

Mindy Henderson: Same.

Jax Cowles: And because of that, it makes eating more difficult to do on your own. It is probably one of the most difficult things that I’ve dealt with having SMA because I felt it the most in regards of a loss of muscle. So that was definitely something that was hard.

I have tried every single hack you can possibly imagine to try to be independent for eating on my own. After doing that, I have bought super long forks. I have bought super lightweight plastic forks, and I used to carry them around. I bought this little thing on Amazon that held your arm so there wasn’t any weight on it so that you can move your arm around. I’ve tried quite a few things.

I even tried where I would prop my arm up in a certain way, and I realized that I wasn’t gaining anything by doing this. I was having a really hard time. I was eating super slow. It was super frustrating, and it wasn’t bringing the muscles in my arm back. So it was almost less work for me, less stress, and less stress on the person I’m with for them to just help me than it was for them to help me pull out a special fork, set up my arm in a certain way, make sure I have it. Ah, now my arm moved, now I can’t do it any more than just giving me the french fry, you know?

Mindy Henderson: Yeah.

Jax Cowles: So at that point, it was like, what is worth it? And it’s something that I’ve gotten more comfortable with as time has gone by, and it’s just a part of my daily life now. I don’t think anything about asking someone to help me take a jacket on and off. And now I really don’t think that much about asking someone to help me eat.

And I think that you will realize the more people that you talk to and are completely your unapologetic self around, the more people are willing to help than you know that really it doesn’t bother them. And I think the only uncomfortability that you will ever see in people is that they just don’t know and they don’t want to do something to offend you or hurt you or anything like that. It’s not that they’re not willing. They’re just afraid or in a state of unknown. And I don’t blame people for not knowing. It’s not their fault.

The more people that have helped me, I feel very fortunate with my coworkers now that I can ask anybody to help me with anything. And I feel so independent when I’m at work and I’m able to do what I need to do, and I can eat and I don’t have to think about it and be like, well, today I starved because I was by myself. No, I can ask someone to hand me my coffee or help me eat a slice of pizza or whatever it may be.

Mindy Henderson: Right. I’m having so many thoughts right now, and I adore you so much because I’ve got a few years on you. I’m a little bit older than you are. Well, you know this, but I really want to be you when I grow up because of the way that you live your life in this unapologetic demeanor that you’ve developed. And I think I’ve always, I think so many of us in this community worry about looking vulnerable, looking like a burden, feeling like a burden and all of those things. And that stopped me in my tracks more than a few dozen times when I needed something and I didn’t ask for it and therefore I didn’t get it and all of those things.

And you and I were having a conversation a few months ago, I think, and I can’t remember what it specifically was, but you were telling me about asking a stranger for help. I don’t know if it was getting something out of your bag or do you remember that conversation?

Jax Cowles: Yeah, so I’m a big believer, and I probably talk to strangers more than I should. Let’s just preface that. I really have no filter when it comes to talking to the people around me. And I want to preface too that, yes, I try to be as unapologetically myself as possible, right? It doesn’t mean that I don’t have hard days, and it doesn’t mean that I don’t sometimes feel that burden-y feeling because sometimes it’s hard, right?

Mindy Henderson: Yeah.

Jax Cowles: Especially in a big crowd or something like that where there’s a lot of people and everyone’s really busy and there’s a lot going on. When everyone has their own-

Mindy Henderson: Or people are going to notice.

Jax Cowles: There’s a lot of stuff going on. Everyone’s trying to do their own thing and you can’t do what you need to do because you need someone but everyone’s busy, and you have to bother someone for outside of what they need to do for you to do what you need to do. So I’m a big believer in therapy. I think that therapy is so important. Whether you feel like you are on top of the world or underneath it, I think that everyone should go to therapy and talk these things through. I think it’s really helpful to do so.

But to go back to your question about strangers, I mean, I ask strangers to push elevator buttons all the time. If I’m in a big hotel, when we were at that conference, that hotel was humongous and there were elevators everywhere, and I will literally go down the hallway to the first stranger I see to ask them to come back with me to the elevator.

Mindy Henderson: Yeah, it’s true.

Jax Cowles: Because I’m not not getting where I need to go, so I will ask people to open a door, do whatever.

When it comes to my bag, and I know you and I spoke about this, about the way that I handle my bags, I always preface my bags, and the things I’m with, that other people are going to go in them, and it’s because I can’t do it myself. So I organize my bags so that I can say, “In the back zipper, there is a black bag. Inside that black bag you will see X, Y, Z.” I think that that really helps people to be able to not feel like they’re snooping through your bag and to go straight to it.

I also have, I will call doom scrolls, of hacking through different products and items as to what can fit on the controller of my chair. And I’ve added straps to bags before that snap on. I want my wallet the same way a pocket would be and something like that to be right here so that if I am alone in the city, if I’m alone in another country, I can ask someone to take something out of my wallet right here in front of my face. I also feel that using something like a credit card is always safer because if something wild happens, you can dispute it on the credit card compared to someone taking cash out of your bag or grabbing your debit card or something like that.

So there’s little safety measures that I put in to make sure that I feel safe and comfortable asking strangers at a store to like, “Oh, can you grab my credit card to pay for something?” And I mean, now with Apple Pay and all these digital things, it’s amazing because I don’t really have to pull anything out anymore. It’s right on my phone.

Mindy Henderson: Yeah, it’s true. And I remember thinking when you and I were… It really opened my eyes because I used to be better at it than I am now. When I was in my 20s and 30s, I don’t know if it was a naivete that I had about me or a different kind of bravery, but I would go places by myself all the time, and I was better at asking strangers to do things when I needed them. And that’s, over time, the less I’ve done that, I’ve lost the skill a little bit. And when you told me that you, this one day, asked this stranger to do this particular thing, I was like, oh my gosh, you’re a rockstar. I’m going to do that.

And I do believe that the more I started to think about it, I was like, I really genuinely believe that more people in this world are kind and good than there are people who are going to be jerks if you ask them to open a door for you. And I think that that’s, honestly, it can be one of the gifts that we get by living with one of these conditions is that we do get to see the humanity in people and the kindness in our daily lives in the interactions that we have with people. So I just wanted to share that with you.

The other thing that’s coming up for me, because we’re talking about feeding ourselves, and this is something that I’ve also really started to struggle with lately. And I think that why this one is so hard, and I bring it up because I know there are going to be people listening that have this same issue, but it’s so much of it that gets intertwined with when do you problem solve, when do you put the energy into something?

There’s also the loss factor. And when you’re trying to retain a piece of function that you can see going away. And I am fighting like hell to keep my ability to feed myself because of what that loss represents. And so I don’t know if you can relate to that or if those are things that you’ve also seen in these things that you’ve had to work through for yourself.

Jax Cowles: Yeah, I think there’s so many. I mean, when you, at least for SMA, is that at a young age, you have more muscles, you’re tinier, so there’s less for them to move. I always say that my muscles are four years old trying to pick up a woman in her 30s. Imagine that. That is difficult.

So I think that I try to keep a positive mind about it, but it’s hard. It’s hard to think about not being able to do certain things that I used to be able to do. I mean, I used to be able to go through my entire school day and carry my binder around, open it, close it, put a key in an elevator, turn the key, go up and down in the elevator and be fine and be by myself and not worry. Yes, it was a little difficult, but I could do it.

Now there is no way that I could get a key in an elevator and turn the key, and it’s a grieving process to lose that sense of independence that you once have. That’s where I go back to finding what makes you feel independent. What is it? It’s not turning the key that makes you feel independent. It’s not having maybe to have someone attached to your side to bring you up and down.

And when I leave my office, I have so many people that are like, “Oh, do you want me to come push the elevator button for you?” Great, I do. That’s wonderful. And I think that not everyone realizes what a weight that is off someone’s shoulder that can’t do something. And it’s the small things I think that are harder to deal with than the big ones, at least for me.

But you’re right, it’s a grieving process I think for everybody. Having a good support system is everything.

Mindy Henderson: Everything.

Jax Cowles: When I’m having a bad day, my family and friends and the people I talk to on a regular basis, they remind me of who I am, and they remind me of all the things that I can do that a lot of other people can’t. So it’s like, are you mad about pushing the elevator button because you can do this, this and this, and I could never do that even if I wanted to. So I would give up pushing an elevator button.

Mindy Henderson: Yeah, that’s a really important point. And not to belabor, I am going to move on after I say this, but not to belabor the whole feeding yourself thing, but one thing that’s actually been surprisingly liberating for me is I spent so many years when I would go to a restaurant or go on a date, or whatever, I would look at the menu with an eye to what was going to be easiest for me to eat. Not what I wanted, but what was going to be the least messy, the easiest to get in my mouth and all of that.

And since I’ve had to start asking people to help me, I can order whatever I want on the menu. And I hadn’t eaten a hamburger in a restaurant for 20 years because I didn’t want to pick it up and risk dropping the whole thing down my front and feeling silly. And now I can order a burger if I want to.

Jax Cowles: Yeah, I’m right there with you. I mean, it’s so wonderful to be able to go out to dinner and drinks with friends and be able to do just that, go out to dinner for dinner and drinks with friends and enjoy yourself and eat the chicken wing and whatnot.

Something that I will say, because I know we’re talking about all these hacks and things, is that when you go to a restaurant, if you want to feel more independent, most restaurants and places will cut your food before they bring it out. It is something that I ask. So if I’m getting steak or whatnot, and I’ll tell you that sometimes your food comes out better because now the chef is normally the one cutting it and your steak will come out perfect every time because they’re looking at it before they bring it out.

Mindy Henderson: It’s true.

Jax Cowles: But it is something that a lot of times I will request. It’s a step that now I don’t have to worry about at the table trying to ask someone to help me cut my dinner where then where does their dinner plate go? Where does my dinner plate go? So don’t be afraid to ask the people that work at the spot that you’re at to help with those types of things because it’s wonderful.

Same thing for clothing stores. Ask for what you need. Ask them to put your bag on the back of your chair. Ask them if there’s other sizes. Ask them if they have tailoring. Ask them.

Mindy Henderson: Yes. Yes. I love this so much. I could talk to you forever, Jax. You’re amazing. And it always makes me get my own ideas and think of things I wouldn’t have thought of before.

So let’s switch gears a little bit. Is there anything that comes to mind as your favorite or your most rewarding moment or story from a time when a simple workaround completely changed a task or an experience for you, and what was it?

Jax Cowles: Okay. So I’m going to have to say with my phone, I know we’re all addicted to our cell phones, but I think that what’s really great is I found an adaptation for my cell phone that made it more accessible for me.

So I saw something for a PopSocket that hooks to your car. It was flat and I said, you can stick it anywhere. Just because they say things are for cars, it doesn’t mean it’s for cars. You can put on your wheelchair. You can put it on your computer. You put it wherever you want.

So I put a PopSocket on my chair. Before doing that, I used to use hair ties and rubber bands to rubber band my phone to the control box so that it was always visible, and I didn’t have to worry about carrying it after dropping my phone I don’t even want to say how many times.

But once I found this, my phone sits right on top of my controller. It’s always there. I use voice access and control now, which is my best friend. It’s amazing. I pushed myself for a long time to do this, do that. And now, I mean, I probably shouldn’t say it, but I can text and drive my chair at the same time. Probably very dangerous, but I can do it. So it allows me to fully use my phone, bring that independence back to me, and my phone is right here at all times.

And for safety, a long time ago, I was doing stuff and I lost my arm on my chair, and I was home alone, and I was stuck leaned over for a few hours home by myself.

Mindy Henderson: Been there.

Jax Cowles: I couldn’t reach my phone. I couldn’t call anybody. It was before we had Alexa and Google and all these wonderful things. So I couldn’t call anybody, and I just had to hang there waiting for someone to get home. And thank goodness someone was like, “Wow, she really has an answered. This isn’t normal. I’m worried.” And my neighbor came over and was like, “Hello?” And I was like, “I’m in here. I’m in here.” And technology can be so great for accessibility in so many ways if you utilize it in the right way. That’s probably my favorite of all times.

Mindy Henderson: I love that one. And I think that that might be the one that got us really talking because I saw your phone right there on your chair, and I was like, “How do you have that attached?” And that was the start of this amazing conversation.

That is a pretty inexpensive solution, that little PopSocket. And so many people think, I think, that an accommodation or a solution of some sort is going to be complicated or expensive. Do any others come to mind that are inexpensive little items that you found that are your favorites?

Jax Cowles: Yeah, so I’m the queen of returning. So sometimes you have an idea of something that’s going to help you in traveling, you’re making it more comfortable, accessible and everything. And then you find out, well, actually this is terrible and actually makes it a lot more difficult. And it’s like, okay, great. Let’s just back up and re-buy.

In all of my buying and returning, I have found a few things that I have shared out with so many people. Obviously, the PopSocket is one of them. The second is a clip-on cup holder. And yes, they make these things for the wheelchairs. A lot of the wheelchair brands make phone holders and cup holders and things like that, but a lot of times they’re permanent or they’re big.

I want people to see me first, not my chair. I don’t like equipment. I don’t even have my footrest on my chair. I don’t like anything on it that I don’t need. And so I got a clip-on little cup holder that can come on and off as I need it. And I even found this little lipstick… It’s for your car, and it’s like a little lipstick holder and it’s supposed to stick on in your car so you can put your ChapStick in. And I was like, great, I’ll take one of those. I put it to the cup holder and now I can have my cup and my ChapStick.

And I put the credit card holders that go on the back of your cell phone. That’s not useful for me. I can’t keep flipping my phone over. So I attached it to the cup holder or I’ve attached it to the side of my chair so that we can use it for anything.

One thing that I want to make sure everyone really think outside, not just outside the box, but we want to break the box altogether, is that glue is glue and the sticker is a sticker. So stick it where it is the most accessible for you. Just because it’s made for a cell phone, it doesn’t mean that’s where you got to put it. Just because it’s made for a car, it doesn’t mean that’s where it needs to go. That is where I have found the most useful tools is by reading articles on best travel hacks, best car items, ways to simplify your life.

Mindy Henderson: Interesting.

Jax Cowles: You start looking and you find products and then you stick it where it is most accessible for you.

Mindy Henderson: Yeah. And I have become best friends with little reams of Velcro that you can just cut off the piece of the Velcro that’s the size that you need it. I have bought Gorilla Glue. And I don’t want anyone out there to break their $100,000 wheelchair, but I have Gorilla Glued things to my wheelchair before. Be careful. Just think about what you’re doing and make sure that you’re not going to hurt anything. But I agree with you. I think that things can be repurposed so many different ways, and I love the way that you’ve embraced that.

If anybody is listening who maybe is either newly navigating a life with SMA or another neuromuscular condition or maybe wanting to move out on their own for the first time and want to be as independent as possible, what would your advice be to them, people who are just stepping into this and wanting to get comfortable with trying things out?

Jax Cowles: I like to play the worst-case scenario game. I think that that’s always the best, right? Think about the things of the what if. What if I don’t feel good this day? What if I have a caregiver call out? What are your safety measures? As we were talking before, I think that Google Homes or Amazon, Alexa, whatever you want to use, are incredible tools for safety.

So first and foremost, find your safety things. Talk to those strangers, make them not strangers anymore. If you’re living in an apartment, if you’re living in a house, talk to your neighbors. Have that safety guard around you wherever you are.

After college, I moved down to Florida. There were six of us. We all just met that day, moved in together, and it was very much like, “Hi, this is me. This is what I need. This is what I do,” and we all did the same thing to know. I mean, you have people with allergies. You have people that have anxiety, stress. It is overwhelming for everybody, so I think that remind yourself of that.

It’s also very overwhelming to constantly have to be adapting and learning how to let go of things and bringing everything back to basics. Bring it back to basics of reminding yourself what do you actually need to feel yourself? And not just like, oh, I need to shower, and I need to get dressed, and I need to go to the bathroom. It’s like, okay, but I also need to be able to cook, and I need to be able to put my makeup on the way that I want, and how do you do that with anyone?

So I like to make my routine foolproof, as much as it can be, so that anyone can help me, no matter who it is, so that I can feel like myself and not feel like, oh, I only feel like myself when this person helps me. Is it that you’re feeling like yourself or you’re feeling like them, right?

Mindy Henderson: Right.

Jax Cowles: And so to add in another little hack here is that I bought an electric makeup brush. It’s the best thing I’ve ever bought, and I can put my makeup on it. I can have someone hold it and bring my face to the brush, and it blends for me and now I don’t have to be like, “Do circular motions, back and forth, up and down.” The brush is moving, so I can move to the brush.

Mindy Henderson: So smart.

Jax Cowles: Little things like that. So I think anyone that is newly navigating SMA or any type of neuromuscular is that go to your basics, what makes you feel like yourself, what is important? I want to be comfortable doing the things that I want to do. I used to be able to do my makeup completely independently. Now I need a little bit of help, but I’m not going to have someone else do my makeup. I just need someone to hold my arm up so I can do my mascara.

Mindy Henderson: Right, same.

Jax Cowles: I’m not going to not wear mascara because I can’t lift up my arm. I’m going to pivot and adapt and not apologizing for needing to do it because mascara is great, and we all deserve to wear mascara if we want to. So I think that that’s important and remind yourself.

I was watching a show, and it really got me thinking that so many people hire help and personal assistants and makeup artists and hair people just because they want to or because they’re not good at makeup. So it’s really okay to ask people to do things because you want to feel like yourself because you can’t do it alone when you have other people in this world. And they’re not apologizing for hiring a makeup artist. You don’t need to apologize for asking someone to help you put makeup on or to help you shave your beard, for men, or whatever you want to do. Everybody deserves to look and feel the way they want to feel and adapt for what you need.

Same thing with clothes. I think you and I were talking about this, that I love blazers, and they were always the world’s biggest pain to put on and off.

Mindy Henderson: Yeah, they’re horrible.

Jax Cowles: They’re horrible, to be able to fit where they’re comfortable on your body. I did styling for a very long time for different modeling agencies. And in doing so, I learned so many hacks of ways to adapt clothes and the way that things fit, and we need to make our clothes fit our bodies. I actually had a seamstress split the jacket completely in half and add a hidden zipper. I put on the left side. I put on the right side.

Mindy Henderson: Genius.

Jax Cowles: And I zip it down so that I can wear the size that I need to wear without buying a bigger size just because my arms don’t lift up high enough and twist where I’m not like, well, I’m wearing a cute jacket, but my shoulder is now sprained.

Don’t be afraid. It’s fabric. Everything is fabric. Take the bottom off a pair of shoes, cut the blazer in half, do what you need to do to make your life accessible for you.

Mindy Henderson: I love it. I love it. And I don’t want that to be the last word, but I feel like it’s a perfect word to leave everyone on. You are an absolute goldmine of information, and I’m so glad that I have your phone number so that I can text you and be like, “So I’m trying to, I don’t know, do a half double twist with a vault and sprint and all of it. How can I do that with SMA,” and you always have the answer, so.

Jax Cowles: Well, I appreciate that so much, and I’ve learned so much from you too. And I would suggest everyone just have the conversations and talk to people, talk. You have to talk and find things out. You never know who’s sitting next to you. And they might know something in a way of doing something that you don’t, so have that conversation.

I think that finding a way to make your life accessible so you can be a part of everything you do and can be more independent is so important. I mean, I have a picture of every single thing in my closet so that I can pull it up and be like, “I want this shirt and this pair of pants.” And I can style an outfit myself without having someone standing there next to the closet being like, “Can you grab that jacket? Can you grab this? Can you grab that?”

Mindy Henderson: That was a hack I was going to ask you about. You were telling me that you have pictures of every closet, every storage space in your house.

Jax Cowles: I do.

Mindy Henderson: Which I love.

Jax Cowles: Yeah, I do. I am a big believer in taking photos of everything. They come in handy so often, especially when you’re out shopping. You’re like, “Do I own that?” And you’re like, “Hold on, I got a picture.”

But I do take pictures. And the reason being is that I cannot open a closet by myself and point exactly where a pair of shoes are that I want or something that I need. So my basement is not wheelchair accessible. Elevators are very expensive, and there’s no need for me to go down there, but I have stuff down there. So I ask my PA to take pictures of downstairs when we put stuff away and what is in the box so that when I am home alone, when I am at night I do a lot of before I go to sleep things. I’m shopping before I go to bed, organizing things. I’m like before bed my brain is like, this is when we want to work.

But I will go on and I will look, okay, it’s in this box. So then when my PA comes, I don’t have to hire them for as many hours because I can say, “Downstairs there is a box with this label on it. Inside is this,” and show them the picture, “This is what it looks like.” Or, “I need these shoes for the morning. Can you grab them?”

Mindy Henderson: Love it.

Jax Cowles: Pictures are so important. I highly recommend it. Take pictures.

Mindy Henderson: Well, you’re making me think because every time I hire a new PA, I have to train them on how to use the Hoyer lift and everything. It’s never occurred to me to have them take a video while my current PA is showing them how to do it and then they can watch it 87 times.

Jax Cowles: Yes.

Mindy Henderson: And, yeah, that-

Jax Cowles:  I take videos of everything. If I like my clothes folded a certain way or if I learn something new from someone, I’m like, “Hold on, I’m going to take a video of that.” And then no matter who I’m with or where I am, a lot of people are visual learners. And I say this, and everyone takes this with a grain of salt, I always say I only have my voice. So I’m not physically doing things, and it’s such a blessing and a curse at the same time. I think that I have a lot of heightened senses because I can only do things verbally when it comes to big things.

Of course, I’m very lucky. I can still move my body. I can write. I can still do a lot, but I’m not picking up a heavy box, and I’m not getting myself dressed. My voice is my strongest asset. So because of that, I want to make sure that I can show the physical with it because sometimes verbal descriptions don’t work for people.

Mindy Henderson: So true.

Jax Cowles: So take the videos, have the conversations to go along with what you’re telling them.

Mindy Henderson: Yeah. I cannot thank you enough for your time. I’ve been looking forward to this conversation for a really long time, and you have shared so many good ideas. And I know that just by hearing you and how you think about things and look at things, I’m sure everybody else is now going to have their own brilliant ideas and new ways of figuring things out. So again, thank you. Come back sometime. We’ll have to do a round two.

Jax Cowles: I would love to. Thank you so much for having me. I just want to encourage everyone to try. It’s okay to make mistakes. It’s okay if something doesn’t work out, but take that trip, get on that plane, take that car ride, try that product, return it if it doesn’t work. You will learn the more that you do, so I just encourage everyone to do, to do.

Mindy Henderson: Yes. And it gets easier to ask for help to do the things.

Jax Cowles: Yes, it does.

Mindy Henderson: So wonderful.

Jax Cowles:  Thank you.

Mindy Henderson: Well, thanks, Jax. We’ll talk soon.

Jax Cowles: Sounds good.

Mindy Henderson: Thank you for listening. For more information about the guests you heard from today, go check them out at mda.org/podcast. And to learn more about the Muscular Dystrophy Association, the services we provide, how you can get involved and to subscribe to Quest Magazine or to Quest newsletter, please go to mda.org/quest.

If you enjoyed this episode, we’d be grateful if you’d leave a review. Go ahead and hit that subscribe button so we can keep bringing you great content and maybe share it with a friend or two.

Thanks, everyone. Until next time, go be the light we all need in this world.

The post Quest Podcast: Redesigning the Day: Accessibility and Mindset Life Hacks with Jax Cowles appeared first on Quest | Muscular Dystrophy Association.

Chad Strowmatt provides adaptive driving training.

“We want people not to have to worry about if the transit system is going to show up, or whether a ride service will get them to a job interview or doctor’s appointment on time,” says Chad Strowmatt, an occupational therapist and owner of Strowmatt Rehabilitation Services, which provides adaptive driving training and resources.

But getting behind the wheel with adaptive driving equipment involves a thoughtful approach that can require extensive preparation. While this might not be for everyone, “I believe everybody should have the opportunity to see if they can drive,” Chad says.

Work with the right driver rehabilitation specialist

Finding a qualified, collaborative certified driver rehabilitation specialist (CDRS) is one of the most important steps in the process. The Association for Driver Rehabilitation Specialists has a searchable list of evaluators by city, state, and province, along with information about their areas of expertise.

College student AJ lives with spinal muscular atrophy (SMA) and began adaptive driving in his junior year of high school. He spent more than a year studying and training, eventually buying a customized vehicle.

As he got closer to his licensing test, challenges arose that his instructor hadn’t accounted for, including insufficient seating stability.

“When I started out, I thought, ‘OK, I’ll get a trusted driving specialist, and whatever they say to do, I’ll do,’” AJ says. “I quickly realized that was a bad decision. One homemade device failed and led to me getting injured, so that kind of stopped the whole process.”

The device had a mechanical failure, but “luckily, someone else was driving at the time, so it didn’t cause a car accident,” AJ says. However, it caused him to injure his foot.

After this experience, AJ no longer felt safe driving, but he is open to trying again in the future.

“You need to advocate for yourself from the beginning,” AJ says. If something doesn’t feel right or if equipment doesn’t support your mobility and strength, ask questions early. Once modifications are installed in a vehicle, it is difficult to make changes.

According to Chad, a good CDRS will walk you through each step of the process, communicate expectations clearly, and ensure you feel supported.

Research adaptive vehicles and equipment

Before you meet with a specialist or test equipment, take time to understand the landscape, including the cars, evaluations, training, budgets, and more. After all, there is a lot to learn, and the technology varies in complexity and “road feel,” Chad says.

Adaptive driving equipment may include:

• Joysticks
• Hand controls
• Steering assist devices
• High-tech electronics
• Custom mounting systems

Vehicle selection is equally important, and potential drivers should evaluate ramp styles, interior height, seating needs, and the long-term maintenance costs.

When researching, AJ suggests leaning on the neuromuscular community, including connecting with people on social media who have tried adaptive driving — successfully and unsuccessfully.

Chad also notes that the cost of high-tech vehicles has roughly quadrupled since he started in the early 1990s, now often exceeding $120,000 for a converted van. Funding sources like vocational rehabilitation (VR) often cover the cost of modifying a vehicle, as they did for AJ. While this is more affordable, the funding source may have requirements about the vehicle and specialists or vendors you can use.

Usually, you’ll need to purchase a qualifying base vehicle and customize it. Once the car is outfitted for your needs, it can still be converted back to its original configuration. Each manufacturer of adaptive equipment has a procedure for reinstalling removed seats and seat belts, and turning off the after-market driving controls.

Adaptive driving evaluations and training

Each state has specific adaptive licensing requirements for testing, behind-the-wheel training time, and more. However, most states require completing standard driver’s education or earning a learner’s permit.

CDRS evaluations for driving safety and adaptive equipment needs typically include:

• Clinical testing: Vision, reaction time, perception, strength, and cognition.
• Endurance evaluation: Determining how long you can safely drive.
• Functional testing: Trying different adaptive control setups. Chad’s team maintains multiple vehicles that can be adjusted to accommodate different functional abilities for test driving.
• Stability assessment: Ensuring you can maintain a safe posture during turns, braking, and acceleration.

For many people with neuromuscular conditions, trunk and head control while driving are major safety considerations. When trunk and head stability are strong, technology can adapt to a wide range of abilities. According to Chad, many clients need a wheelchair headrest, snug-fitting thoracic support, and a molded seating and back support system.

Training usually starts with short sessions to build endurance, then progresses to customized sessions multiple times per week. Chad’s lessons include freeway merging, night driving, managing wind or road tilt, and reacting to unexpected traffic behavior.

Part of this process is getting comfortable on the roads because anxiety is common for new drivers. One fun way to get more comfortable? Driving video games that simulate roadway experiences. Chad also recommends that younger drivers pay attention while they’re riding as passengers to see how friends and family navigate various situations — whether that’s merging onto the highway, navigating a roundabout, or dealing with unusual roadway conditions.

“Now that cars have some self-driving features, it gives us more safety margins of error,” Chad says. “I think the integration of those two sides is going to really help folks who may not have been able to drive for a long time and keep that ability to stay independent for longer than they would have a few decades ago.”

Ultimately, safety must guide every decision. Chad adds that while technology continues to improve, it cannot compensate for every safety limitation. Not everyone will ultimately be able to drive — and that’s OK. The evaluation process exists to help individuals determine the safest path forward.

With preparation, the right team, and the right technology, many people with neuromuscular conditions can experience independence behind the wheel. Adaptive driving is a significant commitment — but for many, the freedom is well worth the preparation.

The post What to Know Before You Start Adaptive Driving appeared first on Quest | Muscular Dystrophy Association.

The study

Newborns with SMA may be eligible to participate in a phase 3 clinical trial (STELLAR-1) to evaluate the safety and efficacy of the investigational therapy salanersen to treat presymptomatic SMA. Salanersen is designed to increase production of SMN protein from the SMN2 gene. SMN protein is essential for keeping motor neurons healthy and functional. This study aims to determine whether starting salanersen before the appearance of any signs or symptoms can prevent SMA from developing or reduce the severity of symptoms if they do occur.

This is an open-label, phase 3 study comprised of two parts. In part 1, all participants will receive two doses of salanersen, about 12 months apart. Participants in part 1 will engage in a screening visit, 11 clinic visits, and three phone calls over about 25-26 months. Participants who complete part 1 may enroll in part 2, during which they will receive three additional doses of salanersen, again 12 months apart. Part 2 will last up to 36 months, with seven clinic visits and 12 phone calls. The total study duration for participants will be about five years.

Salanersen will be administered through an intrathecal (into the spinal cord) injection once per year. The effects of the drug will be evaluated using a number of assessments including but not limited to:

• Physical and neurological examinations
• Blood and urine sample collections
• Vital sign measurements
• Electrocardiograms (ECGs)
• Assessments of development, strength, and movement
• Assessment of nerve health
• Questionnaires about how your child is feeling and acting

Study criteria

To be eligible for this study, individuals must meet the following inclusion criteria:

• ≤42 days of age at first dose of salanersen
• Genetic documentation of 5q SMA homozygous gene deletion or mutation or compound heterozygous mutation
• Two or three copies of the survival motor neuron 2 (SMN2) gene
• Ulnar compound muscle action potential (CMAP) amplitude ≥2 millivolt (mV) at Screening and Day 1 predose
• Body weight ≥3rd percentile for age based on World Health Organization (WHO) Child Growth Standards at the time of informed consent
• Meet other protocol-defined inclusion criteria

Individuals may not be eligible to participate if they are affected by another condition or have received another treatment that might interfere with the ability to undergo safe testing.

Please visit this link for the full listing of inclusion and exclusion criteria.

Interested in participating?

Travel support will be available for eligible participants and their families.

People interested in learning more can reach out to the study coordinator by email at [email protected] or visit the sponsor’s website.

The post Clinical Research Alert: Phase 3 Study of Salanersen in Presymptomatic Newborns with SMA appeared first on Quest | Muscular Dystrophy Association.

Leslie practicing yoga

It’s hard to imagine there’s a photo from only 15 years ago of myself doing the yoga warrior pose in an airport waiting to board an international flight. When I first received my diagnosis of myotonic dystrophy type 1 (DM1) at 36 years old, I would tell people yoga was my primary treatment modality, along with a vegetarian-based diet and positive attitude. Now, as a senior of 63, I can no longer do a standing warrior pose, nor do I have the arm range of motion to do a seated version.

This is just one of the losses that I deal with living with DM1, a progressive multi-systemic disorder. I often question if a new normal is part of DM or just the aging process.

Leslie and her mother mid-1980’s

I’m grateful to experience aging as I can recall the first brochure I read about this condition listed expected lifespan of 48 – 55 years. I didn’t question it at the time since my mother had passed at 55 years old and due to anticipation (the expansion of the CTG nucleotide sequence for successive generations resulting in more severe symptoms for progeny ), I didn’t expect to live beyond 55. So, how did I get so lucky to age beyond that expectation?

One thing I know for sure is that I try to focus on what I still can do. And there is plenty. It’s not as if I ignore the changes, but I try my best to adjust to them and mitigate their impact. I’m still tweaking that exercise-diet-attitude algorithm that’s worked for me so far.

Adopting and adapting a healthy lifestyle

Leslie organized a MDA Dance Marathon in 1978

During my youth I did not participate in sports or any formal exercise, but I did love to dance. Growing up in the 70s, I appreciated the disco craze. That music still gets me moving now – whether I’m seated or at my barre stand. Sometime after college, I had my first introduction to yoga and I gradually became more disciplined. I practiced all types of yoga and eventually tai chi, Pilates, and most recently gyrokinesis. There are lots of online opportunities to practice adaptive, or seated, versions of these movement modes.

Also, while in high school, I began to question my diet. Over several years, I decided that a vegetarian diet was best suited for me. My body just felt better. As I’ve aged and a garden variety of endocrine issues have presented themselves, I’ve made modifications with supplements and even omega 3s, or fish oil.

As I age, I prioritize maintaining an adapted exercise routine and health-conscious diet even more.

Connecting with and helping others

Leslie as a MDA camp counselor in Florida with Chuck Zink

When I was first diagnosed, I wasted no time in contacting the local MDA office in San Francisco. I had the unusual privilege of being an MDA Summer Camp volunteer counselor in high school without any knowledge that DM1 was in my genetic makeup. Volunteering for MDA was a pivotal experience for me, and I was more than aware of the irony.

Leslie as an Outreach Coordinator

Nearly 30 years ago, after a few MDA support group meetings, I was asked to become a facilitator though nothing in my previous education or experience prepared me for it.

I took this role seriously. I learned so much by interacting with many families impacted by neuromuscular disease. Had it not been for MDA, I would not have crossed paths with many of these people due to so many differences, yet we bonded over our shared challenges and grew to respect and even love one another.

Practicing and promoting healthy behaviors

Eventually I returned to school to pursue a different direction than my undergraduate school of the arts. I spent five years researching health education and wrote a doctoral dissertation titled Professional and lay facilitators’ perceptions of roles, goals, and strategies to promote social support and self-management in face-to-face support groups for adults with multiple sclerosis and myotonic muscular dystrophy. 

Quite a mouthful, but the research process led me to the concept of Self-Management Health Behaviors, which I’d been unknowingly practicing prior to diagnosis and subsequently promoting in the MDA in-person groups I facilitated and the current online groups I lead.

Leslie with two friends at an MDA “Walk and Roll”

Self-management is a set of behaviors to help a person manage their own illness in addition to what medical care provides. Numerous research studies of people with different chronic conditions – asthma, diabetes, cardiovascular disease, cancer, and HIV/AIDS – have identified specific areas of health behavior that can be managed by the patient. These self-managed health behaviors include exercise, nutrition and diet, medications, breathing techniques, and symptom management for fatigue, pain, stress, and emotions. Prior research suggests that promotion and practice of self-management behaviors for people with chronic health conditions have resulted in better functional outcomes such as increased physical activity, weight loss, and fewer hospital stays and physician visits.

Staying active and building community

While these support groups laid the groundwork for my newfound life purpose, focusing on self-managed health behaviors and teaching others gave me the confidence to create other DIY opportunities that give my life continued quality and purpose. When my career transitioned and my wage-earning capability lessened, I produced a podcast series called Glass Half Full, started an online May Movement Challenge during COVID, and launched a program called Leslie’s Accessible Walks (LAW) with a variety of partners from CalParks biologists to local historians, muralists, and gardeners.

A meeting of Leslie’s L.A.W. Program (Leslie’s Accessible Walks)

Shortly after I moved to Mendocino in 2021 – a northern rural California town – I began falling more frequently and needed mobility assistance with a walker but soon upgraded to a power wheelchair. The natural beauty of the mountains and coast was my magnet to this location, but I soon realized how limited the access is in parks and historical sites. I started a free walk and roll program and named it LAW. The program offers accessible walking adventures along accessible coastal routes, creating community through relaxed strolls and an opportunity to appreciate the areas beautiful scenery.

Although my warrior pose has lost some of its zing, my internal warrior keeps me going to face the new challenges with grace and veracity.

The post MDA Ambassador Guest Blog: Adapting and Prioritizing a Healthy Lifestyle as I Age appeared first on Quest | Muscular Dystrophy Association.

“I told the other college that I need accommodations and an accessible route,” she says. “I got there, and the elevator was broken in the building where you check in. The tour started 20 minutes late. The accessibility office was not helpful and didn’t understand my requests.”

Abby Dreyer at Eastern Connecticut State University

She had a very different experience at ECSU. “When I toured ECSU, the Office of AccessAbility Services was very understanding. The person who runs the office actually has multiple disabilities. The college even has a disability cultural center,” she says.

Now, Abby is studying business administration at ECSU. Her advice to college-bound students with disabilities is to make on-site visits and ask lots of questions.

“Investigate the attitude of the accessibility office — if they don’t get it, they are not going to fight for you, and it will be harder to advocate for yourself,” she says.

Along with the basics of finding a good college match — location, affordability, size, academic and cultural fit — students with disabilities must do some extra digging.

Ask about their approach to the Americans with Disabilities Act (ADA)

“Any college that receives federal funding has to be ADA compliant, but what that looks and feels like can be different from place to place,” says Annie Tulkin, MS, CEO and Founder of Accessible College, LLC. She advises students with disabilities to search for the right academic fit while also balancing the college’s built environment and dedication to being inclusive.

Annie Tulkin founded Accessible College, LLC.

Historic buildings are not exempt from the ADA, but they may have alternative accessibility requirements. The ADA requires colleges to reduce barriers for students with disabilities and provide reasonable accommodations to ensure they can access the classroom. In some cases, this may mean moving the class to a more accessible building.

Annie notes that under the ADA, colleges are not required to provide personal care services as an accommodation, so it’s up to students to hire their own personal care attendants (PCAs) for daily living tasks. Typically, schools will allow a PCA to share a student’s room at no additional charge.

Think beyond basics to assess campus accessibility

Annie notes that several factors contribute to campus accessibility beyond accessible buildings. For example, consider geography and climate. A college that feels comfortable during a typical spring or summer visit could be harder to navigate in winter, with snow or ice. A hilly or spread-out campus will take more energy to get around.

Connor Stager

It’s also important to think about transportation on and off campus. Connor Stager is studying economics and genetics at the University of Georgia. He lives with distal arthrogryposis, which impairs the senses of touch and proprioception (the sense of the body’s movement and position) and affects his walking.

“When I met with the University of Georgia, they told me about the networks and systems in place, including the paratransit system,” he says. The campus has a paratransit system linking all the buildings, and the Athens-Clarke County public transit system has accessible buses that allow him to travel off campus.

Another consideration is access to specialized care. If you’re moving away from home, you’ll probably need to build a new team of physicians, physical therapists, and other specialists. An isolated college campus, or one far from a neuromuscular care center, may not have appropriate providers nearby.

Get to know the disability services office

Most colleges have a disability services office (sometimes called an accessibility, access, or ADA office) to ensure access for students with disabilities in compliance with federal law. Some offices go beyond compliance to serve as advocates for their students and promote inclusive campus life.

If you need accommodations in college, you’ll request them through your school’s disability services office, which requires disclosing information about your disability.

“It’s important to understand that the disability services office is separate from the admissions department,” Annie says. “Information that a student may share with the office prior to acceptance and enrollment is not shared with the admissions department.”

Start your research early and advocate for yourself

Jonathan Lengel, who lives with congenital muscular dystrophy (CMD) and uses a power wheelchair, is pursuing a double major in digital technologies/emerging media and music at Fordham University’s Lincoln Center campus in New York City. (Read about his college experience in First Semester in a New York Minute.)

Jonathan Lengel at Fordham University

In high school, Jonathan worked with Annie at Accessible College to create a list of questions to ask disability offices about housing, transportation, and overall accessibility at the schools he was considering.

“Start early. Visit the school in your sophomore or junior year of high school. Reach out to the disability office and gauge how proactive it is. This saved me a lot of time,” he says, noting that he used in-person visits to weed out some campuses with old buildings that weren’t retrofitted with ramps and elevators.

However, if there are accessibility issues at a school you like, don’t write them off until you’ve asked if they will address the issues. When Jonathan committed to Fordham, the school began modifying his on-campus residence and had it ready for his fall move-in.

“Always remember, self-advocacy is the most powerful tool,” he says.

Talk with current students

In addition to visiting a college campus, talking with students — especially students with similar disabilities — can give you a fuller picture of campus life.

Jonathan asked Fordham to connect him to another wheelchair user on campus. He asked them if campus facilities have accessible entrances, if elevators are well-maintained, and whether the university does a good job of clearing ice and snow from the accessible paths of travel. It was invaluable to get this information from a source with lived experience.

“They are the keys to the kingdom — find out how their experience has been,” he says.

The post How to Choose a College with a Disability appeared first on Quest | Muscular Dystrophy Association.

With so many valuable podcasts, blog articles, and magazine articles available to our audience, chances are that you may have missed one or two pieces of interesting content. Check out the summaries and links below.

In case you missed it… Quest Blogs:

Everything You Need to Know About Clinical Trials for Neuromuscular Disease

Clinical trials move research forward, putting people at the center of discovery. From understanding safety and risks to accessing cutting edge treatments, learn how clinical trials work and why participation matters.  Read more. 

Simply Stated: Understanding Idiopathic Inflammatory Myopathies 

The idiopathic inflammatory myopathies (IIMs) are a group of rare autoimmune muscle diseases that include dermatomyositis, polymyositis, immune-mediated necrotizing myopathy (IMNM), antisynthetase syndrome, and inclusion body myositis (IBM). Learn about subtypes and symptoms, causes, current management, the evolving research and treatment landscape, and MDA’s work to further cutting-edge IIM research. Read more.

Family’s Are Waiting

A recent 60 Minutes segment examining the cost of gene therapy put a national spotlight on a question families living with rare disease confront every day: how can lifesaving medical breakthroughs exist if they remain out of reach for the people who need them? Sharon Hesterlee, PhD, President & CEO at MDA, shares how the way we address affordability and access now will shape the future of medicine. Read more. 

A Shift in Perspective: Person-First Language and Identity-First Language

The conversation around disability language is evolving and is being led by disabled voices like MDA Ambassadors Santana Gums and Payton Rule. They share why choice, respect, and lived experience matter most. Read more. 

The post In Case You Missed It… appeared first on Quest | Muscular Dystrophy Association.

This gathering unites nearly 40 patient advocacy organizations to align on shared policy priorities and strengthen the collective voice of the neuromuscular community. Ahead of the 2026 conference, Quest Media spoke with Paul Melmeyer, MPP, Executive Vice President, Public Policy and Advocacy at MDA, about why NMAC matters—and what’s at stake for people living with neuromuscular disease.

For readers who may not be familiar with it, what is the NeuroMuscular Advocacy Collaborative (NMAC), and why is its role so important to people living with neuromuscular disease?

The NeuroMuscular Advocacy Collaborative brings together the neuromuscular disease patient advocacy organization community to collaborate on public policy goals. Collectively, we join upwards of 40 organizations behind common public policy and advocacy initiatives to multiply the power of our individual organizations.

What are the primary goals of the NMAC meeting at the 2026 MDA Clinical & Scientific Conference, and what outcomes are you hoping it will help advance?

MDA’s annual NMAC meeting at our Clinical and Scientific Conference allows NMAC member organizations to see each other face-to-face, and share the priorities and challenges of the individual neuromuscular disease communities that they serve. From there, we are able to chart the public policy priorities for the ensuing year, and how we may be able to achieve them.

How does input from people living with neuromuscular disease and their families help shape the discussions and priorities of NMAC?

Input from community members is at the very center of our conversations. We always start with, “What are we hearing from our community on what they would like us advocacy organizations to prioritize?” We also have many members of the community in the room with us as they lead neuromuscular disease advocacy organizations. Not only are they able to speak for their organizations, they can speak from their personal experiences living with a neuromuscular disease.

Were there any specific topics or themes at this year’s NMAC meeting that reflect emerging needs or concerns within the neuromuscular community?

In March 2025, during our last in-person meeting, the prevailing concern among the advocacy organizations present was the health of the biomedical medical research ecosystem following the proposed—and in some cases implemented—cuts to federal medical research funding programs. We also discussed the critical importance of Medicaid to accessing care and services for those with neuromuscular diseases, as well as the importance of support for caregivers, both family caregivers and professional caregivers.

How does NMAC help ensure that MDA’s research investments and clinical initiatives remain aligned with what truly matters most to patients?

While the focus of the NMAC is on public policy, conversations often stray towards collaborative opportunities in research, clinical care, provider and community education, and other ways in which our organizations can work together outside of public policy. Those conversations often continue among the organizations outside of the NMAC.

For someone reading this article who may feel far removed from research or policy discussions, how do decisions made during the NMAC meeting ultimately impact their daily life or care?

The discussions conducted within the NMAC may impact whether a campaign to influence public policymaking is successful. If we put together an outstanding collective campaign and successfully achieve our public policy goals, this may mean more research dollars go to neuromuscular disease research, or access to care is maintained or even strengthened, or access to services that facilitate independence is improved.

What excites you most about the current research pipeline or clinical advancements discussed at this year’s meeting?

The field of neuromuscular disease biomedical research and clinical care is at an important junction in which translating the research community’s discoveries to the clinic has perhaps never been more promising, but the challenges to do so are only growing more stubborn. Plus, with the role of the federal government shifting, this year’s meeting will feature discussions on how the neuromuscular disease stakeholder community will need to adjust and evolve. Both topics are timely and very necessary.

How does NMAC collaborate with clinicians, researchers, and advocacy leaders to move promising ideas from discussion to real-world impact?

The collective advocacy of the NMAC does not stop with the advocacy organizations present. Our efforts will frequently bring in the clinical community, the research community, and most of all, the patient community sharing their voices with their elected officials. And when 40 organizations are asking the community to join us in our advocacy, it is so much more inviting than when a single organization puts forward a call-to-action.

What message would you like people living with neuromuscular disease to take away from the work NMAC is doing at the 2026 conference?

Our organizations recognize that the experiences of our community drive everything we do together. It is perhaps easiest for us to collaborate together in public policy because of the importance that public policies have in the everyday experiences of those living with neuromuscular diseases. We hope to prioritize the issues that are important to you—and if we ever get it wrong, please tell us.

Looking ahead, how do you see NMAC’s role evolving as treatments, technologies, and expectations for neuromuscular care continue to grow?

Not only do we see the NMAC’s role evolving, but we see it growing. The possibilities for collaborative and collective advocacy facilitated by the NMAC are endless. Opportunities such as collective in-person advocacy, public policy research commissioned collectively, and so much more could be ahead of us if we are able. The future is bright for the NMAC’s collective advocacy.

The power of collective advocacy

As the 2026 MDA Clinical & Scientific Conference approaches, the work of NMAC offers a powerful reminder that progress doesn’t happen in silos. When nearly 40 organizations come together—grounded in lived experience, united by shared priorities, and driven by hope—the impact can be transformative. From protecting access to care to fueling research and supporting caregivers, the collective advocacy taking shape at this year’s meeting reflects a community that is organized, energized, and forward-looking. For people living with neuromuscular disease and their families, that collaboration is more than policy—it’s a source of momentum, possibility, and real hope for what comes next.

We hope you’ll join us at the 2026 MDA Clinical & Scientific Conference, taking place March 8–11, 2026, at the Hilton Orlando in Orlando, Florida. This annual gathering brings together individuals living with neuromuscular disease, families, clinicians, researchers, and advocates for four days of learning, connection, and forward momentum. Registration is open for both in-person and virtual attendance. To learn more, view the agenda, and register, visit mdaconference.org.

The post Collective Advocacy at the MDA Clinical & Scientific Conference Propels Hope and Possibility appeared first on Quest | Muscular Dystrophy Association.

My family including, my husband, David and my two daughters, Addison and Lauren.

I can still vividly recall the cadence of my feet striking the track, the familiar rhythm accompanying every mile I ran. Throughout my teenage years and well into my twenties, running served as my sanctuary—a reliable space where I could alleviate stress and maintain my physical health. It was a cornerstone of my identity.

But once I crossed the threshold into my thirties, an unwelcome change began. A persistent weakness started setting in, and my body was no longer able to do the simple movements it once did so effortlessly. I began falling, often for no explainable reason, and everyday tasks like climbing stairs started to feel like scaling my own personal Mount Everest.

Fast-forward to age 43, when I finally received a diagnosis that brought clarity to a decade of confusion: adult-onset limb girdle muscular dystrophy (LGMD). It was a heavy diagnosis, but it all finally made sense—the reason why my body consistently felt as though it was betraying me.

Now I am 50 years old and in more recent years, the progression of LGMD has necessitated a significant life transition, moving from using a walker to relying primarily on a wheelchair. This shift brought new struggles, notably weight gain and reduced physical movement. Trying to pinpoint a fitness routine specifically tailored for my unique needs felt out of reach, a goal that seemed impossible to achieve.

My breakthrough moment arrived when I discovered chair workouts a few years ago

A new way to workout

Chair workouts are precisely as they sound: fitness routines designed to be executed while seated. This simple adaptation makes them inherently accessible for people with diverse disabilities, older adults, and individuals managing chronic conditions.

These routines have given me a vital, safe pathway to movement without the fear of falling or the risk of overexerting muscles that are already fragile. The beauty of these routines lies in their comprehensive focus; they prioritize gentle strength building and enhance flexibility and cardiovascular exercise—all while respecting individual physical limitations.

YouTube boasts an extensive library of chair workouts readily available at your disposal. I have explored several different routines, but my personal favorite and steady companion has been Caroline Jordan Fitness.

A screenshot of Caroline Jordan’s YouTube page, where you can find all her chair workouts.

Caroline is a vibrant, empathetic, and fun certified health coach who truly comprehends diverse physical challenges and who champions adaptive movement as a powerful form of medicine. Her extensive content library is free to access and includes everything from seated yoga to intense, no-impact cardio and strength sessions. You can find her YouTube channel at Caroline Jordan Fitness channel.

The benefits I’ve personally experienced have been genuinely life-changing, extending far beyond muscle tone.

A healthier (and happier) me

These workouts are genuinely challenging. I have lost weight, built strength, and improved my cardiovascular fitness. While the routines are designed to be modified to suit various physical levels (Caroline always explains how to adjust each exercise), they are far from “easy.” They effectively engage muscles, improve range of motion, and absolutely make you sweat!

Rebecca and her daughter, Lauren, at the recent MDA Engage Conference in November.

The satisfaction from completing a 30-minute seated aerobics class is immense and has given me a huge confidence boost. It has helped restore a part of the old “me” that I truly thought was gone forever; the part that loves a healthy challenge and the feeling of self-competition to improve myself. That has felt incredibly rewarding and similar to the satisfaction I used to feel when I was a runner.

The mental health impact has been substantial. Living with LGMD and the daily challenges that come with having a progressive condition led to anxiety and depression. The mindful breathing techniques and the focus on what my body can still accomplish, rather than dwelling on what it cannot, has been incredibly empowering.

Chair workouts didn’t just give me a new way to exercise; they restored my fitness autonomy. They are not merely a consolation prize for losing the ability to walk; they are a legitimate, effective pathway to a healthier, stronger and more positive life. For anyone navigating life with a disability and/or mobility issues, these routines are an absolute game-changer.

Finding a workout for you

There are some challenges to pay attention to. Muscular dystrophy makes overexertion a risk that may cause muscle fatigue; if you are not careful, pushing too hard can leave your body in a worse condition than when you started. I have learned to listen to my body and pause when needed. Before you start a new workout, talk to your doctor or care team to ensure that it is safe for you.

Rebecca Gregg

It is also crucially important to choose instructors who truly understand accessibility—some workouts merely labeled “chair” still inadvertently assume a level of mobility that not everyone possesses. I recommend previewing videos before starting. The best keywords for finding these routines on YouTube include “chair exercises,” “seated workout,” “wheelchair fitness,” “gentle seated yoga,” etc.

With so many options, you can find the right workout for you and discover your rhythm again – it’s waiting for you.

The post MDA Ambassador Guest Blog: Finding My Rhythm Again: The Power of the Chair Workout appeared first on Quest | Muscular Dystrophy Association.

Danny and I cheering on our KC Royals this past summer. He’s Bobby Witt Jr.’s biggest fan!

As our first year serving as an MDA Ambassador family draws to a close, it’s impossible not to reflect on the journey that has brought us here – a journey of challenges, hope, and ultimately finding community and a deeper purpose.

I still remember clearly the day our world shifted. Our son, Daniel, was three when we first heard the words “Duchenne muscular dystrophy” in 2022. At that moment, everything was a blur—medical terms we’d never heard before, tears I couldn’t stop, and a deep ache that no parent can prepare for. In the three years since that day, we’ve faced challenges we never imagined—doctor visits, some physical changes, and emotional waves that come and go—but we’ve also discovered a strength we didn’t know we had.

To begin, I had expressed concerns about Danny’s mobility when he was under two. I worried that he wasn’t crawling or had any interest in walking at 20 months old.  I was told I was being “dramatic” by a medical professional, and I knew our time together needed to come to an end. We made the switch to a new pediatrician, and I finally started to feel heard about my worries.  During Daniel’s three-year checkup, our primary care doctor noticed that he wasn’t making any progress on the growth chart. This was the start of countless appointments trying to pinpoint what was going on with his little body.  I wasn’t prepared for what came next—for hearing that something in his muscles, something written into his very DNA, would slowly take away his ability to walk, to run, to move freely.

There was shock, then fear, then a kind of quiet grief that I didn’t know how to name. I didn’t know how I would ever explain something I didn’t yet understand myself.

Drowning in information

The first year after diagnosis was a haze of medical terms, specialists, and sleepless nights. Our family was suddenly thrown into a world of acronyms—CK levels, exon deletions, clinical trials, steroid protocols. I’d scroll through medical journals, stories from other parents, and hope that maybe, just maybe, the diagnosis had been wrong.

We immediately jumped into what Danny needed. We met with doctors. We worked on the exercises they gave us at home. We practiced our skills and Danny worked so hard. We began advocating—asking questions, pushing for answers, showing up to appointments with notes and binders. I realized that being a Duchenne parent means wearing many hats: caregiver, researcher, advocate, therapist, and most of all, a safe place for your child to land.

Finding our way and hope

Danny showing his skills at the ballpark.

Somewhere in the middle of the chaos, we began to find our footing. We learned to celebrate every victory. I met other Duchenne families through PPMD and the MDA. There’s a strange comfort in talking to people who don’t need explanations—who understand the ache behind your smile and the quiet bravery it takes to get through each day.

During this year, the FDA also approved a landmark milestone that offered hope for families like ours — the ELEVIDYS gene therapy was approved by the FDA for use in individuals with Duchenne muscular dystrophy (DMD). At the time of the approval, therapy had been limited to very young, ambulatory boys (ages 4–5) with DMD. Danny was turning four and half two days after the announcement. He was the first boy in the Kansas/Missouri area to receive this treatment in November 2023. He continues to show no signs of the disease effecting his mobility.

This therapy delivers a shortened version of the dystrophin gene—called “micro-dystrophin”—to help muscle cells produce the protein that Duchenne boys lack. It’s not a cure, but it’s a step forward. For families like ours, it’s a sign that the world is paying attention—that research, persistence, and love can move mountains. Knowing that science is catching up to hope gives us strength to keep going, to believe in better days ahead for Danny and for so many others.

Our world

Now, three years later, the fear is still there—but it’s softened. It lives beside gratitude and love and a fierce determination to make every day count. My son is six now, almost seven. He loves superheroes and Legos and being silly. He played t-ball in the spring and loves riding scooters with his big brother.  He doesn’t yet understand what Duchenne means for his future, and for now, that’s okay. We let him be little. We let him try everything. We encourage him to continue being him.

This past summer, Daniel and I became Ambassadors for the MDA. We have met with the KCK Fire Departments and helped “Fill the Boot” during Labor Day. Sharing his story gives a face to this condition. It raises awareness, builds empathy, and reminds the world that progress in research isn’t just about science—it’s about giving kids like Danny the chance to live fuller, longer lives. If our words can help even one newly diagnosed family feel less alone, or inspire one more person to support research, then telling our story is more than worth it.

Danny at a MDA “Fill the Boot” event in October with the KCFD Captains.

What I’ve learned

Getting Danny’s story out into the world feels important—not just for us, but for every family walking this road. When Duchenne is talked about, it’s often through numbers, medical terms, or research updates. But behind every statistic is a child like Danny—a little boy with a huge smile and a heart that fills every room he enters.

I don’t know what the future holds, and that used to terrify me.  I encourage those who are facing this world to find your support group. Reach out to PPMD. Get connected with the MDA. Find those people who are living a similar path and grieve and celebrate with them. Be an advocate. Be loud about the need for more testing and treatment. Be the voice for those who need your support.

The post MDA Ambassador Blog: Steps of Strength: Finding Hope and Community on Our Duchenne Journey appeared first on Quest | Muscular Dystrophy Association.

The public reaction to the multimillion-dollar price tags for gene therapies was swift and emotional. After decades of effort, investment, and ingenuity, we crossed the scientific finish line only to discover that society does not yet know how to pay for what it asked science to deliver.

There has long been an implied social pact at the heart of medical research. If we could solve the technical challenges, take the risks, and develop safe and effective treatments, those treatments would be available to patients. That understanding has driven generations of donors, taxpayers, scientists, clinicians, and companies to share the hard work of medical discovery. In rare disease especially, the progress we made has been built on trust: trust that innovation would lead to access and that success would be met with readiness. That pact is now being tested.

Over the past several decades, rare disease organizations, donors, scientists, clinicians, and biopharmaceutical companies have made extraordinary progress. Diseases once considered untreatable – Duchenne muscular dystrophy, spinal muscular atrophy, and even ALS – now have therapies that slow progression, preserve function, and extend life. At the Muscular Dystrophy Association alone, more than $125 million has been invested directly into gene therapy research and development, helping advance the science that made today’s breakthroughs possible.

The science worked but what has not kept pace is our ability to pay for and deliver these therapies once they reach the market. Families are encountering delayed authorizations, prolonged coverage reviews, and inconsistent payer decisions even after treatments receive regulatory approval. For progressive neuromuscular diseases such as Duchenne muscular dystrophy and spinal muscular atrophy, delay is not benign. Even when immediate treatment is not clinically indicated, uncertainty weighs heavily on families. When disease progression can be slowed, time matters greatly: time for children to build and preserve function, and time for science to deliver the next breakthrough.

The recent decision to add Duchenne muscular dystrophy to the Recommended Uniform Screening Panel (RUSP) for newborns brings this challenge into sharper focus. Newborn screening will identify children earlier, often before symptoms are apparent. This is a critical advance for families and clinicians alike. But early identification does not automatically mean immediate intervention, particularly when evidence is still evolving. What it does mean is that more families will enter the system earlier, seeking guidance, evaluation, and coverage at the very start of life. That increased demand will further strain insurance systems that are already struggling to respond equitably and
transparently.

This moment reveals a failure of alignment.

Insurance decision-making frameworks were largely designed around diseases diagnosed after symptoms emerge, with treatments introduced gradually and costs spread over time. Gene and genetic therapies operate differently, with earlier intervention and more concentrated upfront costs. This is not a failure of science or commitment. It is a failure of structure.

The challenge extends well beyond rare disease. Cutting-edge technologies developed for rare conditions are already being applied to more common diseases across neurology and beyond. How we address affordability and access now will shape the future of medicine.

There is reason for optimism. As technologies mature, manufacturing becomes more efficient, and competition grows, prices are likely to come down. But families living with progressive disease cannot wait for market forces alone to catch up. What is needed now are new, evidence-based approaches to paying for these therapies. Creative and responsible models deserve serious consideration, including reinsurance models, outcomes-based payment arrangements, nonprofit drug development at cost, and other mechanisms that reflect the realities of modern medicine.

Healthcare has faced moments like this before. Organ transplantation, oncology, and neonatal intensive care all required new frameworks when science outpaced existing systems. Rare disease therapies now demand the same level of intentional design.

We asked science to solve the hardest problems and it did just that. Now society must decide whether it will build the systems needed to honor that success and make good on the promise that innovation would reach the people it was meant to help.

Science is advancing. Families are waiting. The question is whether our insurance and payment systems will evolve quickly enough to keep the social pact intact.

Sharon Hesterlee, PhD
President & CEO

The post Families Are Waiting appeared first on Quest | Muscular Dystrophy Association.

“A clinical trial is an experiment to try to bring an intervention — whether it is a medication or a device — to market,” says Chamindra Laverty, MD, a neurologist at UC San Diego, an MDA Care Center.

Chamindra Laverty, MD

Clinical trials go through several phases that usually take years to complete. Not every clinical trial ends with a new therapy on the market, but every study helps to grow scientists’ understanding of diseases and how to treat them. “Every experiment teaches us something,” Dr. Laverty says.

Regulatory agencies, like the US Food and Drug Administration (FDA), pharmaceutical companies, doctors, and patients rely on data from clinical trials to make evidence-based decisions about how to treat and manage neuromuscular diseases.

Why should you participate in a clinical trial?

Participating in a clinical trial helps advance neuromuscular disease research. You may be in a study that produces new knowledge about a disease or brings a new treatment one step closer to the people who need it, including yourself.

“One of the biggest advantages of participating in a clinical trial is that you could have access to an intervention, such as a medication, two or three years before it comes onto the market,” Dr. Laverty says. A clinical trial gives you access to experimental, cutting-edge treatment options and a medical team that will carefully monitor your disease and overall health.

“The role the clinical trial participant plays is almost like the star of the movie,” Dr. Laverty says. “The trial team is focused on your well-being while you are doing the study.”

Who can participate in a clinical trial?

People of all ages, races, ethnicities, and genders can participate in trials.

Sub Subramony, MD

Each study has its own inclusion and exclusion criteria to help researchers collect the data they need. Common eligibility criteria can include a specific diagnosis, a certain health history, or a target age range.

“Understand that many trials restrict the number of patients and have precise diagnosis requirements,” says Sub Subramony, MD, a neurologist at the University of Florida, an MDA Care Center. Testing a treatment on a group of people with similar characteristics helps researchers keep participants safe and obtain accurate, meaningful data.

Why is genetic testing important for clinical trials?

Many neuromuscular diseases are genetic disorders. Some studies require a confirmed genetic diagnosis for enrollment, especially those exploring gene therapies.

Genetic testing can confirm a clinical diagnosis or pinpoint a person’s specific disease-causing mutation. This information is needed to test therapies that target the underlying causes of genetic disorders.

What about the safety and risks of clinical trials?

The FDA generally requires clinical trials for new drugs to go through four phases, starting with very low doses to look for any signs of toxicity before moving up to doses that might be effective.

“During clinical trials, the study team monitors safety diligently,” Dr. Subramony says. “Patients often have many visits and exams and extensive safety lab testing throughout the trial.”

Though this process can be slow, the FDA’s primary concern is protecting people participating in clinical trials.

“Many drugs being tried are truly novel,” Dr. Subramony says. “As with any new drug, adverse events such as allergic responses or liver, kidney, or blood toxicities may occur. Testing the product in animal models before clinical trials mitigates these risks but cannot eliminate them.”

It’s important to weigh the risks and potential benefits when deciding whether to join a clinical trial.

What can you expect when you enroll in a clinical trial?

In general, you’ll start with a screening visit, sometimes called an informed consent visit. During this visit, the trial team may perform an exam or tests to confirm you are eligible for the study. They’ll also provide information about the purpose, protocols, and timeline of the study and answer any questions you have.

Most trials require one or more visits to receive the treatment being studied and several follow-up visits to monitor any side effects and your disease progression. If the trial site is far from home, visits may require travel and hotel stays. Your total time involved with the study could be months or years.

“If you have a job, you need to be sure your work environment can accommodate your absences. The trial team can often provide supporting letters,” Dr. Subramony says.

He also warns that some visits may involve invasive procedures, such as blood draws, muscle or skin biopsies, or spinal taps. The trial team should tell you what tests or procedures, if any, to expect at each visit. Read Considering a Clinical Trial? 4 Things to Know Before You Enroll for an honest take on the clinical trial experience and key tips from community members who have been there.

Most clinical trials provide medical care associated with the trial, but they do not provide overarching healthcare. You should maintain your regular visits with your primary care provider and neuromuscular care team.

What is a placebo, and why is it used in a clinical trial?

A placebo looks like the treatment being tested, but it contains no active ingredient. In a placebo-controlled study, participants are randomly assigned to either a treatment or a placebo group. Placebos are used to ensure that any benefits observed in the study are due to the treatment’s active ingredient, not simply the act of participating in the study.

“Double-blind, placebo-controlled studies (where neither the researchers nor participants know who is receiving the drug or placebo) continue to be the gold standard of clinical trials. This ensures the two groups of patients are treated exactly the same, with the only difference being the drug vs placebo,” Dr. Subramony says.

Some trials have an open-label phase in which all participants can receive the treatment after the placebo-controlled phase is over.

What are your rights and responsibilities in a clinical trial?

“The participant has the right to be fully informed of the nature of the trial, the procedures to be used, the expected outcome, and risks,” Dr. Subramony says.

You should receive these details in writing and have the chance to ask questions before you sign an informed consent document. You also have the right to withdraw from the study at any time.

“Responsibilities include cooperating fully with the visit schedule and performing all the procedures needed as instructed,” Dr. Subramony says. “Compliance with the drug regimen is most important; be honest about how you have taken the drug and report any deviations.”

Dr. Laverty adds that participants should keep the study team informed of any new symptoms, illnesses, or injuries. “For example, if a new symptom began once they got home from a treatment visit, that needs to be conveyed to the study team,” she says. Even illnesses or injuries unrelated to the study could affect the data collected, so the study team needs to know about them.

What are the costs of a clinical trial?

Study-related clinical visits, care, and treatments are generally fully covered by the clinical trial’s sponsor. Insurance usually is not required to participate in a clinical trial. The informed consent form should detail what is covered.

You may incur expenses if you need to travel to the clinical trial site. Ask if the study will reimburse travel, lodging, or other costs related to clinic visits, such as parking and meals.

It is also important to consider the amount of time away from work or school a clinical trial will require and how that would impact you or your family.

How can you find a clinical trial?

MDA’s resources for finding clinical trials include the Clinical Trial Finder tool, Clinical Trial Updates list, and Quest Media.

MDA Care Center providers also stay informed about clinical trials.

Find more tips for finding clinical trials in the Quest Magazine article What Is the Drug Development Pipeline?

If you can’t find a clinical trial right now, how can you let researchers know you’re interested?

Look for a natural history study or disease registry related to your diagnosis. Both help researchers understand the progression and prevalence of rare diseases and plan clinical trials.

According to Dr. Subramony, one of the best ways to learn about clinical trials is to see your MDA Care Center team regularly. If you tell them you’re interested in participating in research, they can alert you about any appropriate studies they find. In addition, many Care Centers participate in MDA’s MOVR Data Hub and other disease registries, which can help researchers identify potential clinical trial participants.

The post Everything You Need to Know About Clinical Trials for Neuromuscular Diseases appeared first on Quest | Muscular Dystrophy Association.

Gratitude for MDA Ambassadors and the Community Advisory Task Force

Sharon Hesterlee, PhD, President & CEO, Muscular Dystrophy Association

Our MDA Ambassadors, led by National Ambassadors Lily Sander and Ira Walker, touched every corner of this mission in 2025. Their advocacy influenced policy conversations, fundraising campaigns, media coverage, and community events. Their willingness to speak from lived experience helps the world understand neuromuscular disease with greater honesty and depth.

Members of our Community Advisory Task Force guided us with candor. Their insights support decisions about MDA research priorities, educational programs, care delivery, direct services, and accessibility. Their leadership continues to shape what MDA becomes over the next 75 years.

A historic year for science, treatments, and momentum

The 2025 MDA Clinical and Scientific Conference once again convened the largest gathering of global neuromuscular experts, researchers, advocates, industry partners, and families. The conference highlighted new science, evolving standards of care, real world data, and early insights into emerging therapies. It also created space for essential conversations about patient experience, clinical trial access, equity in care, and the responsible development of advanced technologies. The energy and collaboration across sessions reflected a field that continues to move quickly and thoughtfully. MDA’s annual conference is still one of the most important platforms for shaping the future of neuromuscular research and care, and I am grateful to every speaker, attendee, and partner who made this year’s gathering such a powerful catalyst for progress in neuromuscular disease research and care.

Our 75th anniversary year delivered milestones that speak to decades of discovery and scientific rigor. Multiple FDA approvals expanded treatment options across neuromuscular diseases.

• Thanks to research funding provided by MDA, KYGEVVI is now available as the first therapy for thymidine kinase 2 deficiency, one of the rarest mitochondrial disorders.

• ITVISMA became the first gene replacement therapy available to older children, teens, and adults living with spinal muscular atrophy.
• IMAAVY advanced treatment for people living with generalized myasthenia gravis.

These breakthroughs reflect the power of scientific persistence and the long arc of investment in early career researchers, many of whom received MDA funding at pivotal stages in their work. In 2025, we awarded and co-funded five million dollars in research grants to propel the next generation of discovery, with more grants coming in early 2026.

This year also reminded us that scientific progress carries real human cost, and that progress is never separate from grief. Some deaths were the result of disease progression. Others occurred during participation in gene therapy research, where people and families made the extraordinary decision to step forward in the hope of advancing knowledge and expanding options for those who would come next. Their courage matters.

Gene therapy remains one of the most promising paths forward for many neuromuscular diseases, but its future depends on careful study, transparent reporting, and shared accountability among researchers, clinicians, regulators, and families. MDA is committed to advancing this work both urgently and responsibly, centered on safety, equity, and the wellbeing of the people who place their trust in emerging treatments. We carry forward the memory of those we lost by insisting that progress be worthy of their courage.

Earlier Answers for Families: Duchenne Added to the RUSP

The addition of Duchenne muscular dystrophy last week to the Recommended Uniform Screening Panel (RUSP) is a powerful moment of progress for the Duchenne community and a transformative step forward for newborn screening nationwide. It means that more families will receive answers sooner, at the very beginning of their journey, when knowledge can bring direction, confidence, and possibility.

This milestone reflects years of determined advocacy, leadership, and belief in what early diagnosis can change. It was driven by families who shared their stories, advocates who refused to let this moment pass, and clinicians and researchers who move science into action. Together, they helped ensure that Duchenne is recognized early, giving families the time and information they deserve to plan, to act, and to hope.

MDA is proud to work alongside this community as the recommendation moves toward implementation in every state in the nation.

High-Impact Engagement, Delivered Locally

The MDA Engage events in Dallas and San Francisco this fall delivered unique learning and networking opportunities for people living with neuromuscular disease and their caregivers. Both symposiums drew in-person participation from families eager for practical, expert-led education, peer connection, and trusted resources, reinforcing the value of no-cost, community-centered programming that meets people where they are and supports real-world care and life decisions.

Advocacy at a time when families cannot afford to lose ground

Our largest Hill Day in MDA history made clear that the voice of this community carries real weight.125 advocates, ranging in age from seven to 70 met with lawmakers to defend Medicaid access, strengthen NIH funding, improve home care policies, expand newborn screening coverage, and protect the programs that allow people with neuromuscular disease to live with strength and independence.

This rallying point came at a critical moment. Federal agencies that drive rare disease research face cuts, and many essential disability supports remain under pressure. Your advocacy made the stakes visible and personal, and we will continue to grow this national presence in 2026.

Care Centers, camp, and direct support for families

Expert care is still central to our mission. MDA Care Centers and Affiliates continued to deliver multidisciplinary guidance, clinical trial access, and coordinated support that families rely on in over 150 locations. Our work with clinicians this year focused on strengthening quality, consistency, and readiness for emerging therapies that require careful long-term monitoring.

Summer Camp brought nearly 900 children experiences that help shape confidence and resilience well into adulthood. Campers tried new activities, formed friendships, and connected with volunteers who created safe and joyful environments. These weeks represent the spirit of MDA at its best.

Beyond these signature programs, donor generosity made it possible to expand grants for durable medical equipment. For many of our families, insurance will not cover the full cost of equipment that greatly improves quality of life and participation for people in our community. Often, the funding gap is too much for the family to cover without financial help. This support is a vital part of how we meet families where they are.

A new model of sustainable funding

This year also marked the establishment of the Helen Paves Fund for Care and a Cure, an endowed fund created with beauty expert and philanthropist Ken Paves in loving memory of his mother, Helen. We expect the fund will grow to at least $5 million over the coming year and will support ALS care through what is now known as the Helen Paves MDA ALS Care Center Network. Helen lived her life helping other ALS families find compassionate, gold standard care, and this fund continues that legacy.

Honoring the service of Dr. Don Wood, our board, our management team and staff members, and MDA volunteers

This year included a transition. Our former President and CEO, Dr. Don Wood, concluded his tenure with MDA after many years of dedicated service as CEO, as a member of the Board of Trustees, and as a researcher, including his early work as an MDA grantee. Dr. Wood cared deeply about strengthening MDA’s support for families, advancing research partnerships, and elevating the importance of community connection. We thank him for his leadership and wish him well in his next chapter.

Our mission and fundraising volunteers gave their time, energy, and lived experience to support families, strengthen programs, and extend MDA’s reach in communities across the country. So did our all-volunteer Board of Directors, who provide MDA with steady guidance, thoughtful oversight and a clear commitment to the long-term strength of the mission and the MDA brand.

Our donors make MDA’s work possible. Their trust, generosity, and belief in MDA’s mission sustained families, accelerated research, and strengthened care and community programs during the year. Their commitment continues to power both the progress we made in 2025 and the momentum carrying us forward into 2026 – and beyond.

I also want to call our legacy partners, including CITGO and the International Association of Fire Fighters, who have supported MDA for decades. The enthusiasm we receive from every stratum of these organizations – from employees bidding with good-natured competitive energy on auction items to support MDA, to fire fighters who stand on street corners from coast to coast  to Fill the Boot – we are deeply grateful for your partnership and trust in our ability to advance our mission.

Meanwhile, MDA staff brought dedication and skill to every corner of MDA. They supported our families, advanced research, strengthened partnerships, delivered national campaigns to reach and engage our community, and upheld the values that define this organization. I am deeply grateful for their service.

Closing a milestone year and stepping into the future with you

Ending our 75th anniversary year carries pride and reflection in equal measure. We honored a powerful legacy. We saw breakthroughs once thought out of reach. We saw young people thrive at camp, and families receive expert guidance at Care Centers. We stood together on Capitol Hill and made the voices of this community impossible to ignore.

We also recognize what is still ahead of us. Families still face barriers to diagnoses and care. Scientific progress depends on consistent, protected research funding. Equity in access, education, and support requires constant attention. These realities shape our path and commitment for the years ahead.

The next era of MDA will deepen our work across research, care, advocacy, and community building. We will strengthen programs for people at every stage of life. We will continue to invest in emerging therapies and the clinical infrastructure that surrounds them. We will expand support services and education for families. And we will bring this mission to more people nationwide.

Above all, we will move forward together. This community is a partner in every success, every breakthrough, and every lesson learned. Thank you for your trust, your insight, your energy, and your belief in what we can build.

I look forward to our next year of progress and to the future we will shape together.

SH

PS. Would you like to engage with us in 2026?

The post A Year Built Together: Reflections on 2025 and the Road Ahead appeared first on Quest | Muscular Dystrophy Association.

Subtypes and symptoms of IIMs

The IIM subtypes have many similarities in presentation and the classification of the different subtypes is rapidly changing in clinical practice. Currently, the main IIM subtypes are characterized as follows:

Dermatomyositis (DM) – Dermatomyositis is characterized by a combination of muscle weakness and distinctive skin rashes. Many people with DM have specific autoantibodies that help understand their subtype and guide prognosis, such as anti–TIF-1γ (linked to a higher cancer risk) or anti–MDA5 (linked to lung involvement).

Polymyositis (PM) – Polymyositis involves muscle weakness without a rash, but true PM is rare. Many cases once diagnosed as polymyositis are now understood to be different conditions, such as IMNM, early or misdiagnosed IBM, or other related diseases such as overlap myositis or antisynthetase syndrome without a rash.

Antisynthetase Syndrome – This form of IIM is marked by antibodies against tRNA synthetases, which are essential for making new proteins inside cells. People with this condition often develop a recognizable pattern of symptoms, including muscle inflammation, lung disease, “mechanic’s hands” (rough, cracked skin on the fingers), joint pain, and Raynaud’s phenomenon (episodes where fingers or toes turn white or blue in response to cold or stress due to reduced blood flow). This condition typically develops more suddenly than classic dermatomyositis.

Immune-Mediated Necrotizing Myopathy (IMNM) – IMNM causes severe muscle weakness but usually little inflammation as seen by muscle biopsy. Rather, the muscle cells show signs of active injury. Some people have anti-HMGCR antibodies (sometimes linked to statin exposure), while others have anti-SRP antibodies. IMNM often looks like polymyositis, but behaves differently and requires its own treatment approach.

Inclusion Body Myositis (IBM) – IBM is different from the other myopathies. It tends to affect older adults, especially men, and causes a slow, uneven muscle weakness, often making it hard to grip objects or climb stairs. Doctors may see specific changes called “inclusion bodies,” by muscle biopsy, though these structures are not always found. IBM has a different underlying cause than other myopathies and does not respond well to standard immune-suppressing treatments.

Sometimes the IIMs occur alongside another autoimmune disease, such as lupus, scleroderma, or mixed connective tissue disease. In these cases, muscle symptoms may be mild, and specific antibodies (like anti-RNP or anti–PM-Scl) can help clarify the diagnosis.

For more information about the characteristic symptoms of the IIM subtypes, as well as diagnostic and management concerns, a recent overview can be found here.

Cause of IIMs

The IIMs are autoimmune diseases, which means that the immune system mistakenly attacks the body’s own muscle tissue during the course of disease. Although the exact causes are still unknown, researchers believe these conditions develop through a combination of genetic susceptibility and environmental triggers. Certain inherited genetic variations can increase a person’s risk, while factors such as infections, medications, or UV exposure may activate the abnormal immune response. In many cases, specific autoantibodies, such as anti-MDA5, anti-TIF-1γ, anti-HMGCR, or anti-Jo-1, help define the IIM subtype and may contribute to how the disease develops. Ultimately, IIMs arise from an overactive immune system that leads to inflammation, muscle weakness, and damage to other tissues.

Current management of IIMs

While there is currently no cure for the IIMs, many of the symptoms can be treated with immunosuppressive therapy, physical therapy, and/or rest. Not all subtypes of IIM respond to immunosuppressive therapy, however, so the ability to accurately diagnose the IIM subtype is important to guide appropriate management. Therapeutic development in the IIM space is also accelerating, leading to promising new clinical trial opportunities for patients.

Treatment for IIMs depends on the specific subtype and the person’s symptoms. Most forms respond to immune-based treatments, while IBM typically does not. Care is tailored based on muscle weakness, how long the disease has been present, other organ involvement, cancer risk, age, and other health conditions.

For most people with IIM, initial treatment starts with broad-spectrum steroids (glucocorticoids) plus a long-term steroid-sparing medication such as methotrexate, mycophenolate, azathioprine, or rituximab. Intravenous immunoglobulin (IVIG) is FDA-approved for DM and is often an effective option. Supportive care is also essential and may include physical therapy, steps to prevent swallowing problems and aspiration, and measures to protect bone health.

People with DM skin disease may need additional treatments, including sun protection, antimalarial agents, or other immunosuppressive or immunomodulating therapies if the rash is hard to control.

Evolving research and treatment landscape

The most promising therapies in development for IIMs focus on using more precise methods to modulate the immune system. These treatments are designed to target specific disease pathways and offer better options for people who do not respond well to traditional broad-spectrum steroids. Some promising new therapies in clinical trials for IIMs include:

JAK inhibitors (Janus kinase inhibitors): This class of oral small molecules is a major area of research due to its ability to suppress multiple immune signaling pathways implicated in DM.

• Baricitinib is being investigated in a phase 3 trial (BIRD) for people with new or refractory DM. This study is currently recruiting participants.
• Brepocitinib, a TYK2/JAK1 inhibitor, recently met the primary endpoint in its phase 3 trial (VALOR) for adults with DM, demonstrating the ability to reduce steroid use in patients. An FDA filing (submission of trial and safety data for review and potential approval) is expected in the first half of 2026, moving brepocitinib closer to becoming a new treatment option.

FcRn inhibitors (Neonatal Fc receptor inhibitors): These monoclonal antibodies are designed to reduce the levels of disease-causing autoantibodies in the bloodstream.

• Efgartigimod is in a phase 3 trial for IIM to study long-term safety and efficacy, with positive phase 2 data showing clinical improvement across disease activity measures.
• Nipocalimab is also being investigated in a phase 2 trial (SPIREA) for DM, anti-synthetase syndrome, and IMNM.

CAR T-cell therapy (Chimeric antigen receptor T-cell therapy): This innovative cellular therapy approach targets specific B cells to potentially reset the immune system and achieve long-term, drug-free remission in severe, refractory cases. Multiple studies are underway for various IIM subtypes.

Anti-interferon agents: Many people with DM show increased activity of the type I interferon (IFN-a) immune signaling pathway, so therapies targeting this pathway show promise as potential therapies.

• Anifrolumab (Saphnelo), an agent targeting the type I interferon receptor, is being studied in a phase 3 trial that is currently recruiting participants with DM or PM.

B-cell depletion therapy: This therapeutic strategy has proven effective in other autoimmune diseases, highlighted by the recent FDA approval of Uplizna for treatment of myasthenia gravis. Several next-generation B-cell depletion agents are in development to provide stronger or more targeted effects, especially for people who do not respond to standard therapies.

• Obinutuzumab, a stronger B-cell-targeting antibody is being tested in patients who have not responded well to prior B-cell depletion therapy, such as rituximab.

Interferon-gamma targeting agents: While type I interferon (IFN-a) plays a role in skin manifestations in dermatomyositis, type II interferon (known as interferon-gamma (IFN-γ)) appears more relevant for muscle inflammation. Interferon-gamma–targeting therapies are therefore in development to address muscle inflammation in IIMs.

• Dazukibart (PF-06823859) is an anti-IFN-γ antibody under investigation in people with IIM. It is being studied in a phase 3 trial that is currently recruiting participants.

Inclusion body myositis (IBM) treatments: IBM has been particularly challenging to treat, but several agents are in development to slow disease progression or manage symptoms.

• Sirolimus (rapamycin), an mTOR inhibitor, is designed to preserve muscle function. The therapy is in a phase 3 trial for IBM patients.
• Ulviprubart (ABC008), an anti-KLRG1 antibody, aims to selectively remove the specific immune cells that damage muscle tissue in IBM. It is being studied in a phase 2/3 trial.

To learn more about clinical trial opportunities in IIM, visit clinicaltrials.gov and search for the specific disease name (e.g., “inclusion body myositis”) in the condition or disease field.

MDA’s work to further cutting-edge IIM research

Since its inception, MDA has invested more than $22.3 million in IIM research. Through strategic investments from MDA, partner advocacy groups, and the National Institutes of Health (NIH), IIM research is advancing, offering hope for breakthroughs and a better future for those living with these complex conditions.

MDA’s Resource Center provides support, guidance, and resources for patients and families, including information about idiopathic inflammatory myopathies (IIMs), open clinical trials, and other services. Contact the MDA Resource Center at 1-833-ASK-MDA1 or [email protected].

The post Simply Stated: Understanding Idiopathic Inflammatory Myopathies appeared first on Quest | Muscular Dystrophy Association.

The study

This is a phase 1/2 open-label study with dose escalation (part A) and dose expansion (part B). This means that all participants will receive SAR446268 treatment. In part A, participants will receive different doses to determine the optimal therapeutic dose. In part B, additional participants will receive the optimal therapeutic dose as determined by part A. The total duration of the study for participants will be 104 weeks. This will include 22 doctor visits scheduled over two years, with 15 of the visits occurring in the first 3 months.

The drug will be administered by intravenous (in the vein) infusion. The effects will be evaluated using a number of tests and procedures including but not limited to: vHOT (video hand opening time), 10MWRT (10m Walk Run Test), dynamometer, needle biopsy, vector shedding, and routine safety labs and tests (blood, urine, ultrasound of heart, EKG and Holter monitor).

Study criteria

To be eligible for part A of the research study, individuals must meet the following inclusion criteria:

• Must be 18 to 50 years of age, inclusive
• Have non-congenital onset DM1
• Have a pacemaker and/or implantable cardioverter-defibrillator (ICD)

Individuals may not be eligible to participate if they are affected by another condition or receiving another treatment that might interfere with the ability to undergo safe testing.

Please visit this link for the full listing of inclusion and exclusion criteria.

Interested in participating?

Travel, food, and lodging support is available for eligible participants.

To learn more about the study or inquire about participation, contact the closest participating hospital using Clinical Trials.gov or Sanofi Studies.

The post Clinical Research Alert: Phase 1 Study of Gene Therapy in Individuals with Myotonic Dystrophy Type 1 appeared first on Quest | Muscular Dystrophy Association.

As we prepare to enter 2026, we reflect on the remarkable work of MDA’s advocacy community this year.

The fight to protect Medicaid

In the spring and summer, MDA’s advocates were out in full force as threats to the Medicaid program loomed large. From catastrophic funding changes to overly burdensome red tape, the benefits of this vital program were in real jeopardy. However, MDA’s advocates ensured their voices were heard in a variety of ways, including:

• Meeting with lawmakers, both in Washington D.C. and in-district.
• Sending over 13,000 letters to lawmakers.
• Writing numerous op-eds and letters-to-the-editor in local newspapers.

Although Congress eventually passed a bill with major cuts to program, we’re proud of all the efforts of MDA advocates. Our work is far from over and we will continue to fight for the important benefits of this vital program.

MDA on the Hill 2025

On November 2-4, 2025, despite a historic government shutdown, MDA returned to Washington, D.C. for MDA on the Hill. Grassroots advocates from across the country traveled to the nation’s capital to urge lawmakers to support policies that will empower the neuromuscular community. Key areas of legislation that advocates pushed for included protecting access to health care, supporting medical research funding, and easing the burden of caregivers.

Here are the highlights of those impactful days:

• 125 total participants.
• 26 states represented.
• 106 meetings on Capitol Hill with lawmakers from both political parties, including many who serve on key committees or in leadership positions.

The effort to pass these priorities doesn’t end with the conclusion of MDA on the Hill. MDA advocates will continue to advocate for these policies and will not stop raising their voices.

Duchenne muscular dystrophy and newborn screening

This year marked a historic milestone for the Duchenne muscular dystrophy (DMD) community as the U.S. Department of Health and Human Services (HHS) officially added DMD to the Recommended Uniform Screening Panel (RUSP), the national list of conditions recommended for newborn screening across all states. This is a major step toward earlier diagnosis, and faster access to care and treatments for children living with DMD and their families. Thank you to every advocate who raised their voice and made this achievement happen.

More notable 2025 highlights

Finally, MDA continued its work to empower the neuromuscular community by advocating on a variety of key issues pertinent to those living with neuromuscular disease. Notable highlights include:

• Securing an ICD-10 code for LGMD2i, which had been a goal of that community for many years.
• Continuing to advocate for accessible air travel, including meeting with the Department of Transportation about implementation of the 2024 Wheelchair User rule.
• Building support for caregivers through gaining cosponsors for the Alleviating Barriers for Caregivers Act, which would review and simplify processes, procedures, forms, communications to streamline benefits navigation for family caregivers.
• Engaging MDA advocates in education policy, such as efforts to fully fund the Individuals with Disabilities Education Act.

Celebrating achievements and looking towards the future

2025 was an unprecedented year, but it also led to unprecedented opportunities for MDA advocates. We are so grateful to everyone who raised their voices and looking forward to a successful 2026.

The post Reflecting on 2025’s Advocacy Accomplishments appeared first on Quest | Muscular Dystrophy Association.

The studies

HINALEA 1 and HINALEA 2 are open-label, multicenter studies. This means that all participants, at multiple study sites, will receive risdiplam treatment. The studies will involve a 1.5-year treatment period, followed by a one-year treatment extension. The total study duration expected for each participant is approximately 2.5 years. Participants will visit the clinic during the screening and baseline visits, and then every 12 weeks (~8 visits) during the treatment period. There will also be one visit (week 96) during the treatment extension period and one visit (week 120) at study completion.

Assessments will be conducted during the scheduled study visits. The types of assessments will include motor development (BSID-III, PDMS-3 and WHO motor milestones), swallowing functions (OrSat and p-FOIS), growth measures (height and weight), physical examinations, and evaluations for safety events.

Study criteria

To be eligible for these studies, individuals must meet the following inclusion criteria:

• < 2 years of age at the time of informed consent
• Confirmed diagnosis of SMA
• Confirmed presence of two SMN2 gene copies as documented through laboratory testing
• Received onasemnogene abeparvovec for SMA no less than 13 weeks prior to screening
• If treated with risdiplam prior to onasemnogene abeparvovec, risdiplam treatment must not have exceeded 3 weeks and must be discontinued 1 day prior to onasemnogene abeparvovec administration
• Meet additional criteria as specified by the investigator

Additionally for HINALEA 1:

• Participant has not experienced clinically significant decline in function post-gene therapy

Additionally for HINALEA 2:

• Participant has demonstrated a plateau or decline in function post-gene therapy

Individuals may not be eligible to participate if they meet the following exclusion criteria:

• Previous or current enrolment in investigational study prior to initiation of study treatment
• Any unresolved standard-of-care laboratory abnormalities per the onasemnogene abeparvovec prescribing information
• Concomitant or previous administration of an SMN2-targeting antisense oligonucleotide or anti-myostatin agent
• Presence of feeding tube and an OrSAT score of 0
• Meet additional criteria as specified by the investigator

Please visit the following links for the full listing of inclusion and exclusion criteria.

• HINALEA 1 (BN44620)
• HINALEA 2 (BN44621)

Interested in participating?

Travel support will be available for eligible participants and their families.

Parents or caregivers interested in learning more can reach out to Genentech Trial Information Support Line (TISL) by phone at (888) 662-6728 (US/Canada), Hours: Monday – Friday, 5am – 5pm PT, or visit the sponsor’s website.

The post Clinical Research Alert: Two Phase 4 Studies of Risdiplam in Pediatric SMA Patients Following Gene Therapy appeared first on Quest | Muscular Dystrophy Association.

The study

This is a phase 1/2 randomized, placebo-controlled trial. This means that participants will be randomly assigned to receive the study drug, DYNE-101, or an inactive placebo control. The total duration of the study for participants will be up to four years. This will include a 60-day screening period and a 24-week placebo-controlled treatment period. Following this, all participants will be eligible to receive 24-weeks of DYNE-101 treatment and enroll in a 168-week extension period, in which they can continue to receive DYNE-101. During the study, participants will have regularly scheduled visits at their study site.

The drug will be administered by intravenous (in the vein) infusion. The effects will be evaluated using a number of tests and procedures including but not limited to: blood and urine collection, a heart function test (ECG), a physical exam conducted by the study doctor, muscle function and strength tests, including change from baseline in myotonia as measured by video hand opening time (vHOT), biopsies, and questionnaires to capture any changes in a participant’s DM1-related symptoms or activities.

Study criteria

To be eligible for the research study, individuals must meet the following inclusion criteria:

• Diagnosis of DM1 with trinucleotide repeat size >100
• Age of onset of DM1 muscle symptoms ≥12 years
• Clinically apparent myotonia equivalent to hand opening time of at least 2 seconds in the opinion of the Investigator
• Hand grip strength and ankle dorsiflexion strength
• Able to complete 10-MWRT and 5×STS at screening without the use of assistive devices

Individuals may not be eligible to participate if they are affected by another condition or receiving another treatment that might interfere with the ability to undergo safe testing.

Please visit this link for the full listing of inclusion and exclusion criteria.

Interested in participating?

Travel support is available for eligible participants.

To learn more about the study or inquire about participation, contact the closest participating hospital using Clinical Trials.gov,  EU Clinical Trials, or DYNE ACHIEVE FAQs.

The post Clinical Research Alert: Phase 1/2 Study of DYNE-101 in Individuals with Myotonic Dystrophy Type 1 appeared first on Quest | Muscular Dystrophy Association.

More than fifty years later advocates continue to seek progress for a more accessible and inclusive society – celebrating key milestones and successes while continuing to work to overcome barriers and biases.  Now, amongst the many changes over the decades, the conversation around identity and language is also changing.

Changes in perspective and preferences

Person-first language, which puts the person before the disability (person with a disability instead of disabled person), aims to promote dignity by focusing on the person first, instead of their disability – but for some, using language that distances oneself from their disability or treats it as an entirely separate attribute does the opposite.

In the last decade, a countermovement has gained traction within the disability community as perspectives and preferences shift towards using identity-first language. The movement has gained traction, especially among younger generations, based upon the ideology that person-first language essentially separates oneself from their disability, implying it is something that needs to be overcome.

MDA Ambassador Payton Rule

“I choose to use identity-first language because implying that disability needs to be separated from one’s identity can inadvertently suggest that disability is inherently a bad thing. That kind of message can contribute to stigma, which can make life harder for disabled people,” says Payton Rule, a 27-year-old MDA Ambassador living with Charcot-Marie-Tooth disease (CMT). “I grew up primarily using person-first language because I had learned from society that disability was something negative. Using person-first language felt like a way to distance myself from my disability as much as possible. However, as I became more involved in the disability community, I came to view my disability as not inherently bad and as a source of pride.”

“Identity-first language reflects the fact that my disability is part of my social identity,” she continues. “My disability has profoundly shaped the way I navigate and experience the world—in beautiful, neutral, and difficult ways. It has contributed greatly to the person I am today. Separating my disability from my sense of self doesn’t feel authentic. My disability is not something I fight or overcome; it’s simply a part of me that influences my perspectives and experiences, much like my other identities (e.g., being a woman). Yet we don’t use person-first language for any other social identity. In fact, it would likely sound odd to say, “I’m a person who is a woman.” For many other social identities, we automatically assume that the identity does not diminish someone’s humanity. We don’t make that same assumption for disability.”

Those who are embracing identity-first language (disabled person instead of person with a disability) intend to express that their disability is a core aspect and integral part of their identity. For many, the election of identity-first language promotes the view that not only is their disability a key component of who they are as a person, but it is also a source of pride and strength.

MDA Ambassador Santana Gums

“Identity first language is my preference because when I speak about my disability, I feel that it is part of my identity. My disability is one of the many things that defines me, and I think that’s a beautiful thing,” says Santana Gums, a 25-year-old MDA Ambassador who lives with limb-girdle muscular dystrophy (LGMD) Type 2b. “I view my disability as something that has shaped the way I identify myself in the world. It has shaped my worldview, my personality, and my life goals. Being disabled allows me to be patient, compassionate, and aware to an extent that I never was before my disability became prominent in my life.”

The power of words

The language that we use has the profound ability to shape reactions, inspire action, and impact reality. Recognizing and harnessing the power of how we communicate and the terminology that we choose is one more step towards creating a society in which everyone is valued.

“The language that we use is important because communication is a powerful tool that can be harmful or helpful,” Santana says. “It is important to be mindful of how you communicate to others, and it goes a long way to communicate in a respectful and compassionate manner.”

Payton elaborates how the language that we use shapes how we see the world and how we see each other. “The words we choose can contribute to exclusion and stigma or help people feel seen, valued, and understood. Thoughtful language can also challenge stereotypes or unfair assumptions and lead to greater inclusion in attitudes, physical access, and social policies. In short, the words we use matter because they don’t just describe reality but also help create it,” she says. “I want to live in a world where disability is viewed as a natural part of human diversity—where it isn’t stigmatized, and where our systems and policies are built with disabled people in mind. Using identity-first language is, for me, one small way to push back against stigma and move closer to that world.”

Personal choice

Ultimately, the true power of the words we choose to define ourselves comes from choice. The language that individuals adopt is a deeply personal choice that reflects one’s own views of self, identity, and disability – and there is not a right or wrong preference. For some, person-first language continues to resonate as terminology that emphasizes humanity and empowers the expression of self. For others, identity-first language creates a context which embodies the value and influence of life with a disability on one’s own identity.

“Language is deeply personal and different people connect with different terms for different reasons,” Payton says. “I don’t think there’s one “right” way to identify—what matters most is that each disabled person gets to choose the language that feels authentic to them.”

When it comes to personal preference, asking an individual what language they prefer to use is the best way to create an environment that allows others to feel seen, heard, and valued. Demonstrating inclusivity – both in language and action – contributes to creating equality and respect for all people.

The post A Shift in Perspective: Person-First Language and Identity-First Language appeared first on Quest | Muscular Dystrophy Association.

The key may be combining scholarships, grants, and other financial aid programs and benefits. Here, current college students and an expert provide tips for finding funding to help you start and finish college.

Start early

One key to getting financial assistance is starting early. According to MDA’s College Planning Timeline, 10th grade is a good time to start making a college budget plan. While researching schools, reach out to their disability or accessibility offices to ask about scholarships and financial aid options for students with disabilities.

College scholarship applications are generally due in the fall or spring of a student’s 12th-grade year. The deadline for the Free Application for Federal Student Aid (FAFSA), a program everyone should apply for, is usually June 30 in the year you are applying for. State deadlines may vary.

More tips from an education and disability advocate

Annie Tulkin founded Accessible College, LLC.

Annie Tulkin, MS, CEO and Founder of Accessible College, LLC, partnered with MDA to compile essential resources for college-bound young adults with neuromuscular diseases. Find links to webinars and other information at Accessible College and the Muscular Dystrophy Association (MDA): Working Together to Support Students.

Annie offers these essential tips for students:

• Before applying for college funding, understand each funding source’s requirements and how much time you will need to meet them. Many scholarships require personal essays and letters of recommendation, which take time to write.
• Look for scholarships offered by organizations that support people with your diagnosis. (For example, MDA’s scholarship for students with neuromuscular diseases.)
• Work with your high school counselor. Most high schools have access to college planning platforms that can help find financial aid.
• Use the Swift Student Form to create a Disability Expenses Request Letter and submit it to your college or university’s financial aid office. Federal law allows financial aid officers to consider disability-related expenses when determining the amount of financial aid a student can receive.
• For ongoing financial support, stay in contact with your college or university’s financial aid office and disability or accessibility office.

Consider public benefits

For support with expenses related to personal care attendants, accessible housing, and transportation, Annie recommends pursuing Supplemental Security Income (SSI) and Vocational Rehabilitation (VR) funds.

SSI provides monthly payments to people with disabilities who have little or no income. State-run agencies provide VR funds to help people with disabilities find and keep jobs. They may cover education-related expenses that help position a person to join the workforce.

“We all know it’s more expensive to live as a person with a disability,” Annie says. “The more funds you keep in your own pocket, the more you can live independently in school and after graduation.”

Advocate for yourself

Abby Dreyer, who lives with spinal muscular atrophy (SMA) and uses a power wheelchair, is studying business administration at Eastern Connecticut State University (ECSU). She is an MDA Scholar and wrote a Quest Blog post about transitioning to college and living independently.

Abby Dreyer is a student at Eastern Connecticut State University.

Her small-town high school was not helpful in her college search, so Abby took on the research herself. Because she was in the National Honor Society, she looked for honors programs at universities and learned that ECSU’s honors program pays full tuition. She also contacted ECSU’s Office of AccessAbility Services, which linked her to a disability-focused scholarship that helps cover part of her housing and food costs.

“Always do your research on websites and via direct email to accessibility offices,” she advises, noting that each person knows their own needs best.

Tell your story in your applications

Grace LoPiccolo is a student at Saint Louis University.

Grace LoPiccolo, who lives with Charcot-Marie-Tooth disease and walks with leg braces, is a Saint Louis University senior, majoring in bioethics and Catholic studies. After graduating in 2026, she plans to attend law school.

The MDA Scholarship is her only disability-based financial aid. She also receives a merit-based scholarship through her school and a tuition contribution for her service as student body president.

Even when applying for funding unrelated to disability, Grace advises not to shy away from framing your eligibility, skills, and goals through a disability lens. “My general college essays were about my disability. When I applied to law school, I mentioned why I want to be a disability rights attorney. Communicate yourself as a real person who also has a disability,” she says.

Look for planning tools to help

Maxey Mapp, who lives with myotonia congenita, which causes episodes of muscle stiffness, is pursuing a bachelor’s degree in exercise and sports science at the University of North Carolina. He plans to be a physical therapist.

Maxey Mapp is a student at the University of North Carolina.

In addition to an MDA Scholarship, he receives need-based financial aid through his school, and the university has helped him find paid summer internships.

Maxey built his financial support by being organized. Before applying, he created an account on fastweb.com, an online scholarship database, to keep track of the scholarships he was applying for and when they were due.

“You need to stay on top of scholarship applications — most require essays and letters of recommendation. Some ask you to create a 30-second video. Pay attention to deadlines and the time you need to meet them,” he says.

MDA makes an impact

Scott Wiebe, MDA’s Director of Community Programs, is thrilled that applications for MDA Scholarships are opening soon. The highly competitive scholarships pay up to $5,000 for first-year awardees and $2,500 for existing recipients who renew the scholarship.

“The scholarships are based on merit in leadership and community involvement,” Scott says. Now in its third year, the program receives about 200 applications and awards scholarships to the top 10 ranked applicants.

MDA Scholarships are not just for high school seniors — anyone with a neuromuscular disease who is in college, a trade school, or a vocational program is eligible.

Scott is proud that MDA is making a positive impact by being part of the support system for scholars with disabilities who are tomorrow’s business leaders, disability rights attorneys, physical therapists, and more.

The post Navigating College Scholarships and Financial Assistance with a Disability appeared first on Quest | Muscular Dystrophy Association.

As this is my final article in the capacity of a National Ambassador, I would like to take this opportunity to reflect on these two impactful years marked by advocacy, leadership, encouragement, and resilience. I wish to acknowledge the successes realized, express gratitude for the experiences gained, and articulate optimism for the future of the neuromuscular community.

Achieving my goals as a National Ambassador

When I was offered the opportunity to fulfill the role of National Ambassador, I took some time to define a mission for this role. My goal became clear: to encourage, inspire, and uplift others. I wanted to demonstrate courage and champion for those living with neuromuscular diseases as they pursue independence, fulfillment, and their best selves. I aimed to lead passionately within the MDA community, raising awareness, advocating strongly, and supporting medical research funding. My hope was to serve as an example, showing people that it’s possible to achieve greatness, happiness, excitement, and live a life full of love and compassion, even while facing health challenges.

After two years on the national stage, I believe that I have fulfilled my mission. Through numerous speeches celebrating the generosity of MDA partners and donors, many appearances at events (both in person and online) where I brought enthusiasm and encouragement, and quarterly articles sharing my personal journey to motivate others—I feel that I have made an impact.

My trips to Washington, D.C. allowed me to advocate for a brighter future, and throughout this journey, members of the community have reached out to express how my work has helped illuminate new possibilities for them. Although my time as a National Ambassador has come to a close  and so much more can be and will be done, I’m confident that my time, energy and purpose has been successful.

The opportunity to give back

In 1978, my parents welcomed my sister Romanda into the world. Six and a half years later, I was born. At the time of my birth, my father was serving in the army, leaving my mother to care for her infant daughter on her own. When my sister was about one year old, my mother noticed some unusual physical behaviors. Following the pediatrician’s advice, she took Romanda to a neurologist, who diagnosed her with spinal muscular atrophy (SMA). Although my mother was nurturing and determined, she realized she needed guidance and support to best care for a child with such a unique condition.

Fortunately, she found the help she needed at MDA, where a dedicated team provided resources and hope, helping her navigate the challenges ahead. A few years later, after my father returned from the army and began a career in law enforcement, I was born. Around my first birthday, it was discovered that I too had SMA.

Having two children with this diagnosis might seem overwhelming, but my parents faced the reality together and excelled at ensuring that both of their children lived fulfilling lives. Their success was made possible thanks to the incredible support network at MDA. Our family has thrived because of MDA’s unwavering presence in our lives. I am forever grateful for everything MDA has done for us, and serving as National Ambassador gave me a valuable opportunity to express my deepest appreciation.

What’s on the horizon

Over the past two years, I’ve experienced an important period of personal growth, allowing me to concentrate on what I value most: offering hope and support to the neuromuscular community through my life experiences. My role as National Ambassador offered me a platform to cultivate connections with members of the community. My dedication to creating meaningful contributions and connections has only strengthened – and I will continue to prioritize those connections. This year, I released my debut fiction novel, “Torn Branches,” which can be found on Amazon, Apple Books, and Barnes & Noble. As an author, I’m passionate about continuing to write stories that celebrate the resilience and determination of people with disabilities, aiming to inspire through both literature and other projects.

As I look to the future, I am confident that the ongoing progress in research will continue and that so many positive changes are on the horizon. Our community’s future looks promising, and I’m convinced that our youth will shape the path ahead. The power of young advocates is exemplified by  National Ambassador Lily Sander. The talents and dedication of Lily and other advocates are vital in sustaining and enriching our community. Their innovation, commitment, and uplifting influence fill us with optimism for what’s to come.

In closing, I would like to share advice that has guided me over the years. My father once told me that carrying a smile and a spirit of gratitude each day is essential. While challenges are inevitable, it is important to recognize that many people would be grateful to be in your position. I encourage everyone to embrace this mindset and consistently strive to present their best selves in all aspects of life. It has been an honor, a privilege, and a great blessing to be your National Ambassador.

Thank you!!

Ira J. Walker III

The post Insights by Ira: Mission Complete appeared first on Quest | Muscular Dystrophy Association.

With so many valuable podcasts, blog articles, and magazine articles available to our audience, chances are that you may have missed one or two pieces of interesting content. Check out the summaries and links below.

In case you missed it… Quest Blogs:

MDA Ambassador Guest Blog: How Finding Community Helped Me Face the Fear of Having My Son Tested for CMT

Kevin Crowley, who lives with Charcot-Marie-Tooth disease (CMT), shares how finding community and leaning on support helped him face the fear of having his son undergo genetic testing for CMT. He shares his journey and the process that led to his decision. Read more. 

How Expanded Access and Compassionate Use Broaden Access to Investigation Therapies

Expanded access (compassionate use) helps patients access promising treatments when no other options exist. Learn how this process works – and how it changed the lives of one family. Read more.

In case you missed it… Quest Podcast:

Episode 58: Wrapping Up 2025 with Lily & Ira

In this Quest Podcast episode, we chat with Muscular Dystrophy Association’s National Ambassadors, Lily S. and Ira Walker. Lily is a dedicated advocate finishing her first year as a National Ambassador. She shares her journey, why she believes it is important to advocate for yourself and others, and what she has learned along the way. As Ira wraps up his second year as a National Ambassador and prepares to start a career as a published author, he chats about how connecting with his community and sharing his story with others through MDA has been life-changing. These National Ambassadors join us to share their experiences, expertise, and advice. Listen here.

In case you missed it…Quest Magazine 2025, Issue 4:

The Newest Issue of Quest Magazine is Here

The final issue of Quest Magazine for 2025 is here! Read up on financial education, budgeting tips, self-care for caregivers, gene therapy, MDA’s umbrella of care, personal stories about careers with a disability, understanding spinal-bulbar muscular atrophy, Quest Media Photo Contest winners, and more. Read more.

The post In Case You Missed It… appeared first on Quest | Muscular Dystrophy Association.

The study

This is a multicenter, open-label, non-randomized study. Two active treatment cohorts will have three participants each and an observational control group will have six participants. Participants can choose whether they are a part of the treatment group or observational control group. The participants receiving SRD-001 treatment will be required to attend 10 study visits over two years, while the observational control group will have five study visits over two years. For long-term follow-up, participants will have biannual appointments for the next three years, which are completed remotely.

The gene therapy is administered by a one-time infusion into the coronary arteries of the heart. The effects of SRD-001 will be evaluated using a number of tests and procedures including but not limited to: physical examination and vital sign measurement, adverse event reporting, blood draw and analysis of cardiac biomarkers, urinalysis, electrocardiogram (ECG), cardiac MRI, performance of upper limb scale 2.0 (PUL 2.0), pulmonary function tests, and DMD-Quality of Life assessments.

Study criteria

To be eligible, individuals must meet the following inclusion criteria:

• Male at least 18 years of age at time of consent
• Willing and able to provide informed consent to participate in the trial
• Diagnosis of DMD based on clinical and phenotypic manifestations
• Diagnosis of cardiomyopathy with LGE on at least 3 segments of the cardiac MRI
• Left ventricular ejection fraction less than 50% at time of screening
• Receiving standard-of-care cardiac therapy at an experienced, multidisciplinary center
• On a stable dose of systemic glucocorticoid for at least 12 months prior to screening

Individuals are not eligible to participate if they meet any of the following exclusion criteria:

• Have a forced vital capacity <25% of predicted within the past 3 months
• Are unable to undergo cardiac MRI without sedation

Please visit this link for the full listing of inclusion and exclusion criteria.

Interested in participating?

Travel support is available for eligible participants.

To learn more about the study or inquire about participation, contact the relevant study sites at:

• University of Kansas Medical Center – Yolanda Murr at [email protected] or (913)588-8232
• Cincinnati Children’s Hospital Medical Center – Heart Institute Neuromuscular Intake Line at (513)803-3000
• Nationwide Children’s Hospital – Kelsey Craig at [email protected] of (614)722-2715
• For general information – [email protected]

The post Clinical Research Alert: Phase 1b Study of SRD-001 in Adults with DMD-Related Cardiomyopathy appeared first on Quest | Muscular Dystrophy Association.

Whether you are wrapping a gift for your caregiver, partner, friend, or family member, these gift wrapping hacks can make the process a little easier and more accessible.

Setting up your station

Creating an accessible wrapping station is the first step in increasing independence while wrapping. Designate a workspace that allows you to easily reach all the items you will need while wrapping. Have a caregiver or family member help you set up your station if needed. Opt for a table or desk area where you can sit comfortably or easily pull up a wheelchair. Set small side tables or tall chairs on either side of where you are sitting for additional space to place unwrapped and wrapped gifts.

Staying organized and saving energy

If you have a lot of gifts to wrap, don’t pressure yourself to do it all at once. Plan multiple small wrapping sessions to save energy. Keep a list or spreadsheet of the gifts that you have purchased and for whom, then check each one off as you wrap them to take the guesswork out of remembering what you have already wrapped and what you still need to wrap.

Plan when you will wrap gifts based on when you have the most time and energy to commit to the task. Conserve strength and energy by taking breaks or asking for a hand when you need to.

Tape dispenser assistant.

Cutting and taping made easier

If you plan to wrap your gifts in traditional wrapping paper, there are a plethora of products that can make cutting and taping easier and more accessible. If you are having someone help you set up your station, a foldable tape dispenser assistant with multiple cutter sections is a great addition. This device allows you to pull tape across the compartments and cut each piece of tape ahead of time so that you can easily grab pre-cut pieces of tape as you wrap. A handheld tape dispenser is perfect for putting tape directly onto wrapping paper with one hand. And clip-on table tape dispensers make it easy to tear one piece of tape at a time using one hand, and you don’t risk losing your roll of tape as you work.

Some clip-on table models are designed so that you can attach a roll of wrapping paper between two clip-ons to easily roll out paper, place your gift, and access pieces of tape as you wrap. Other hand-held tape dispensers serve a dual purpose as paper cutters, with an opening so that you can slide the dispenser/cutter over the roll of the paper, wheels to roll the device and safely cut paper as you go, and an easy-to-hold handle. Similar paper cutting designs, like round slide-wrap cutters and wrap cutters with wheels and an easy to grip handle, don’t include a tape dispenser if you prefer a smaller model.

Wrapping paper cutter.

You can also opt for bundles of pre-cut wrapping paper sheets if maneuvering and cutting from large rolls of paper is difficult.

Getting creative with wrapping methods

In addition to innovative devices for traditional wrapping, there are also numerous alternative wrapping methods that may prove more accessible based on your needs. These creative and fun options are an easy replacement for paper and tape.

• Holiday gift boxes come in a variety of sizes and beautiful designs. Most dollar stores and off-price department stores, like Marshall’s, have an affordable selection of gift boxes that take the work out of wrapping. You can add tissue paper or simply place your gift inside.
• Gift bags are another easy and popular way to present gifts. Just like gift boxes, affordable and attractive gift bags are easily available online or at local stores. Save money by purchasing bundles of gift bags and by saving the gift bags that you receive to re-use next year.
• Another creative option for gift wrapping is to give a “gift-in-a-gift” by placing the present in a storage tote, small decorative crate, or cute woven basket that the recipient can use at home. Style the gift with tissue paper, bows, and/or a pretty card tucked in.
• Similar to the “gift-in-a-gift” idea, the Japanese gift-wrapping method known as furoshiki uses fabric, like a tea towel or scarf, wrapped around a present and tied with a knot.
• Themed containers – like burlap bags, fabric gift bags, mason jars or fancy glass cannisters (which are great for perishable gifts or small nonperishable gifts with tissue paper), and window treat boxes for baked goods or small gifts – are another easy and cute alternative to wrapping. For an extra creative touch, you can add a festive string or ribbon and evergreen sprig or pinecone.

A gift wrapped using the furoshiki method.

Making it fun and festive

Make your gift-wrapping session special by playing festive music, lighting a holiday candle, sipping a special drink, playing your favorite holiday movie, or inviting a friend to wrap with you. And however you choose to wrap your gifts this season, just remember that gifts don’t need to be elaborate, expensive, or perfectly presented – they just need to be given with love.

The post Holiday Gift Wrapping Made Easier: Accessible Tips & Tricks appeared first on Quest | Muscular Dystrophy Association.

As MDA celebrates its 75th anniversary year, these grants reaffirm a core belief: when organizations work together, progress becomes possible. Sharon Hesterlee, PhD, President and CEO at MDA, underscores this mission: “As an umbrella organization, MDA represents families living with any of over 300 neuromuscular diseases. By combining resources and expertise with our colleagues at disease-specific organizations, we can fund more innovative projects and accelerate the development of treatments that have the greatest potential to change lives.”

Advancing science together

Below is a look at each of the new research projects and the partner organizations helping to drive them forward.

Targeting Calcium Pathways in LGMD R1/2A

Partner: Coalition to Cure Calpain 3
Investigator: Elisabeth Barton, PhD, University of Florida
Project: SOCE modulation as a potential therapeutic for LGMD R1/2A

This study examines how store-operated calcium entry (SOCE) affects muscle health in LGMD2A/R1 and explores whether modulating this pathway could serve as a therapeutic strategy. Jennifer Levy, Scientific Director of Coalition to Cure Calpain 3, shared, “This collaboration with Muscular Dystrophy Association will enable us to accelerate progress and bring hope to the LGMD2A/R1 community.”

Advancing Diagnostics and Gene Therapies for Congenital Myopathies

Partners: Cure ADSSL1, Cure CMD
Investigator: Alan Beggs, PhD, Boston Children’s Hospital
Project: Molecular Genetics and Therapies for Congenital Myopathies

This project uses next-generation genomic tools and AAV-based gene therapies to uncover disease mechanisms and develop treatments for SELENON- and ADSSL1-related congenital myopathies. Priyanka Kakkar, President of Cure ADSSL1, emphasized, “For patient-founded organizations like ours, collaboration is the most powerful accelerator.” Rachel Alvarez, Executive Director of Cure CMD, added, “Collaboration is critical to advancing rare neuromuscular disease research toward treatments.”

Studying Sensory Dysfunction in Friedreich’s Ataxia

Partner: Friedreich’s Ataxia Research Alliance (FARA)
Investigator: Jordi Magrané, PhD, Weill Cornell Medicine
Project: Somatosensory dysfunction in a Friedreich’s ataxia mouse model

By analyzing early nerve and sensory changes, this project seeks to identify new therapeutic approaches for Friedreich’s ataxia. FARA’s Director of Research, Liz Soragni, PhD, shared, “Collaborating with MDA amplifies the reach and impact of this work, bringing us closer to effective treatments for FA.”

Restoring Key Cellular Pathways in ALS

Partner: ALS Network
Investigator: Matthew Nolan, PhD, Massachusetts General Hospital
Project: Developing regulators of Stathmin-2 in ALS

This project focuses on restoring Stathmin-2 — a crucial protein lost in ALS — using chemical and genetic approaches. ALS Network CEO Sheri Strahl, MPH, MBA, noted, “Hope grows stronger when it’s matched with action — and that’s exactly what this partnership delivers.”

Characterizing Immune Dysfunction in Inclusion Body Myositis

Partner: The Myositis Association (TMA)
Investigator: Bhaskar Roy, PhD, Yale University
Project: In-depth characterization of immune dysfunction in IBM

Using single-cell analysis, this study explores how immune cells contribute to muscle degeneration in IBM, aiming to identify new therapeutic targets.

Paula Eichenbrenner, MBA, CAE, Executive Director of TMA, said, “This project reflects the TMA×MDA partnership in our mutual and relentless pursuit to investigate inclusion body myositis.”

Reducing Lipotoxicity in Mitochondrial Myopathy

Partner: United Mitochondrial Disease Foundation (UMDF)
Investigator: Mariena D’Aurelio, PhD, Weill Cornell Medicine
Project: Modulating ER stress-induced lipotoxicity in mitochondrial myopathy

This study investigates how lipid buildup drives muscle dysfunction and tests therapeutic strategies that may restore metabolic health.

UMDF’s Philip E. Yeske, PhD, shared, “Collaboration is at the heart of everything we do at UMDF, so working alongside MDA aligns perfectly with our mission.”

Understanding Neuronal Changes in CoQ10 Deficiency

Partner: United Mitochondrial Disease Foundation (UMDF)
Investigator: Alba Pesini Martin, PhD, Columbia University Irving Medical Center
Project: Investigating neuronal function in CoQ10 deficiency

This research examines how lipid and metabolic abnormalities in CoQ10 deficiency affect neuronal structure, survival, and function. By uncovering how these disruptions contribute to neurological symptoms — and why current CoQ10 supplements cannot effectively reach the brain — the project aims to identify new metabolic targets for therapy. UMDF’s Science & Alliance Officer Philip E. Yeske, PhD, emphasized the power of this partnership, which also supports the mitochondrial myopathy project. “Collaboration is at the heart of everything we do at UMDF, so working alongside Muscular Dystrophy Association to co-fund mitochondrial disease research aligns perfectly with our mission,” he shared.

Building a stronger research ecosystem

Across these seven projects, one theme is clear: collaboration multiplies impact. Each co-funding partnership broadens scientific reach, strengthens community connections, and accelerates paths to treatments across multiple neuromuscular diseases.

Angela Lek, PhD, Chief Research Officer at MDA, captures this shared purpose: “Partnering with organizations that share our mission allows us to maximize the impact of every dollar we invest. Together, we are building a stronger, more connected research ecosystem for the neuromuscular disease community.”

This collaborative model has guided MDA’s research legacy for 75 years, fueling more than $1.1 billion in research investment, over 7,000 supported investigators, and more than 25 FDA-approved treatments in the last decade. Today’s newly awarded grants carry that momentum forward — honoring MDA’s history while accelerating toward a future of more breakthroughs and more hope.

Together, we advance science. Together, we strengthen our community. And together, we move closer to a world where every neuromuscular disease has meaningful treatments and pathways to care.

The post Progress Through Partnership: MDA’s Collaborative Research Grants Drive Neuromuscular Science Forward appeared first on Quest | Muscular Dystrophy Association.

DOT Wheelchair Rule: Enforcement pause & new resource

This fall, the US Department of Transportation issued its third notice that it would be using its enforcement discretion on four areas out of roughly a dozen major provisions of the final rule until December 2026. The four areas include:

1. Airline’s liability, if a passenger’s device is not returned in the condition received.
2. Frequency of refresher training required of those who assist passengers using assistive devices or those stowing assistive devices.
3. Passenger notifications about their wheelchairs and scooters.
4. Reimbursement of fare differences for a flight that can accommodate the measurements of the passenger’s mobility device.

The rationale provided aims to reduce regulatory burdens on industry.

Refresher training requirements have not yet gone into effect, with an original implementation deadline of June 2026, which may not be met with the latest enforcement notice. There were many concerns about what this meant for airline liability for wheelchair damage, which was the subject of a lawsuit brought by Airlines for America earlier this year.

In September, the Department issued its regulatory agenda for 2026, and within the long-term agenda was a potential future regulatory action titled ‘Wheelchair User Rule II’, indicating the administration is reconsidering airline obligations for wheelchair users on the four provisions noted above. While the agenda slated a notice of proposed rulemaking on the issue in August 2026, timing is not guaranteed.

MDA meeting with the Department of Transportation (DOT)

In late September, MDA staff and advocates met with the then-Acting General Counsel Gregory Cote to share our concerns with delayed enforcement of the wheelchair user rule and the need for greater safety and protections for air travelers with disabilities in the neuromuscular community. The Department shared that it was committed to upholding the Air Carrier Access Act and that all areas of the rule not referenced in the regulatory agenda (e.g. loaner wheelchair accommodations, transport of delayed wheelchairs) would be enforced.

Coalition letter and DOT response

On September 16, MDA joined Paralyzed Veterans of America and other leading disability, veteran, and health organizations in a letter urging the Department to maintain the final rule and refrain from imposing any new regulatory burdens on passengers with disabilities, highlighting the variety of burdens travelers with disabilities already experience in the air travel process.  We received a response to the letter from now-Principal Deputy General Counsel Gregory Cote on October 30 stating that the Department was “committed to upholding the principles of the Air Carrier Access Act” and that the rulemaking referenced in the regulatory agenda was initiated to “restore commonsense governance while also protecting the essential rights of individuals with disabilities”. Cote shared that the Department would carefully consider comments in determining how to proceed with rulemaking, and MDA intends to be fully engaged in that notice and comment period.

ACAA Advisory Committee nominations solicited

The 2018 Federal Aviation Administration Reauthorization law established an Air Carrier Access Act Advisory Committee, responsible for studying certain issues impacting the disability community. Committee members had been named earlier this year, then terminated with the change in administration. New nominations have been solicited, and the application process closed in September. We are waiting for new members to be named and we hope that applications from the neuromuscular community are among those selected.

Research update: Wheelchair spots on planes

With the shared vision of a future where the neuromuscular community can travel from the safety and comfort of their wheelchairs, MDA provided grant funding in 2025 to All Wheels Up to conduct crash testing on in-flight wheelchair restraint systems at the National Institute for Aviation Research at Wichita State University, following successful testing in previous years. The results were presented at the All Wheels Up Global Forum in September, finding both restraint systems tested successfully met FAA static load requirements for single-aisle aircraft without structural failure, meaning the surrogate wheelchair used in testing remained secured to the aircraft floor for the duration of the test. These findings confirm that the technology exists, and now policymakers must act to fund further research and pilot programs for onboard wheelchair securement.

The year ahead

Until air travel is truly accessible for all, MDA’s advocacy work on accessible air travel continues. In 2026, we know the Department of Transportation will be pursuing regulatory changes to the wheelchair user rule finalized last December and are prepared to safeguard the protections we’ve secured for passengers with disabilities, especially those who use wheelchairs. But, we’ll need your help! Join the MDA Action Network, take action when you receive alerts, and continue to share your air travel stories with us.

The post MDA Updates on Air Travel Advocacy appeared first on Quest | Muscular Dystrophy Association.

Sonali Gupta

When I was diagnosed with muscular dystrophy twenty years ago, I had no idea what kind of life awaited me. At the time, I was a senior about to graduate from New York University. I had spent my college career securing prestigious internships at entertainment and music companies, catching the subway after class to spend hours inside fancy offices, hoping to climb the corporate ladder and own a record label of my own one day, and then rush back home to study. Muscular dystrophy was only a label for me – at that time I didn’t need mobility aids or caregivers and I wasn’t yet experiencing too many symptoms. But the more I moved around, the stronger my instinct was that there was something wrong with my body.

New York is a pedestrian city, so I walked and took subways and buses everywhere. In time, I started noticing how unstable I felt in my legs. It was becoming harder to climb up stairs without having to pull myself up the railing. And sometimes when I’d walk down the street, my knees would buckle and I’d crumble to the ground in a pile, struggling to get up on my own. I had weakness in my arms too though that didn’t impact my day-to-day life as much as my legs did. It was terrifying not knowing what was causing this sudden impairment in my abilities and there was a lot of self-blame that occurred too. I used a cane for many years – it had been my companion, travelling around the world with me. From ancient ruins in Istanbul to the Indian Ocean, my cane supported me as long as it could until I needed a walker and now a wheelchair. At twenty, I was headstrong and stubborn, certain that my diagnosis would not impact my goals – and maybe a little naïve that it would not impact my life.

I learned that I have a genetic mutation that causes something called limb-girdle muscular dystrophy (LGMD). I only told a few close friends and my supervisors at work about my health; fearful they’d think less of me, that I was making some sort of excuse to get out of doing work. I avoided Googling my diagnoses for a few months – until I caved one day and saw images of wheelchair and walkers. I called my mother, crying into the phone, scared that the images on the screen were what my future held for me instead.

Sonali at her college graduation.

I also worried about my relationships – friends, potential partners, anyone I’d be around. I’ve always been a social person, I still am. From the friendships I fostered during college or people I met out in the real world, to the caregivers (I eventually needed 24-hour care) who turned into friends, my relationships became more meaningful over time. I’m fortunate to have developed deep connections with people around the world. Those bonds carried over as I lived in India for many years, returning to the US during summers.

And yet, even in the safety of those connections, there was always something I couldn’t quite name—a small distance, a quiet gap. It wasn’t a lack of care or love. It was something subtler: the difference between empathy and living this life day-to-day.

For years, I was constantly explaining why my body moved the way it did. Whether it was to strangers or friends, I laughed off some tougher moments to hide my pain. I struggled to keep up with my able-bodied friends, pushing myself to show up at dinners and parties, sometimes spiraling in anxiety with the planning and strategy involved with every move. Though I knew my friends and family understood my challenges, I often felt alone even when surrounded by my loved ones.

It wasn’t until I learned to balance valuing my own independence and leaning on my community – finding and feeding a variety of relationships – that I was able to feel a true sense of belonging.

Making my own way in Mumbai

When I moved to India in my twenties, I thought I was going for a few years of holistic treatment. I ended up staying through most of my twenties and thirties, working and exploring my roots on my own terms. Living in India with muscular dystrophy was its own education and adventure. Mumbai is a vibrant city—packed with people, markets, traffic, it’s the city that never sleeps—and I loved being swept up in all that energy. But it also meant navigating buildings with large steps and no ramps, broken streets with no sidewalks and enduring long stares from strangers on walks when my body moved differently than theirs.

My disability was progressing during those years, which meant that every few years I had to relearn how to move through a complex, multi-cultural city and my life. And I met two wonderful caregivers who learned alongside me for years to come.

There were moments of deep frustration—not speaking the language, feeling invisible when infrastructure excluded me (but usually finding a way around it!)—but there were also many moments of unexpected kindness. Like shop owners who would bring their products to my car when they knew I couldn’t enter their shops or friends who would instinctively stand close to me or hold my hand tightly to guide me through a crowd.

Sonali in India with two of her caregivers, Balu and Martha.

I eventually began working with non-profits dedicated to fostering inclusivity like Point of View and Change.org, connecting with disabled and other marginalized communities. I wanted to support those communities in the best way I could while also experiencing what it felt like to be in community with other disabled folk. My writing career developed during those years as I worked to shed more light on accessibility in Mumbai and create more awareness/acceptance around the importance of having an inclusive culture, especially for younger people with disabilities. People with disabilities in India must often prove their worth time and again and often what is meant to be empathy looks and sounds a lot like pity.

In India, I didn’t have a built-in muscular dystrophy community nearby, but I eventually found close connections with friends throughout the city. That community wasn’t always disability-specific, but it was real, and it helped me grow into adulthood in a country that challenged and changed me in every way.

Connecting with others like me

When I eventually returned to the U.S. in 2024, to my hometown in New Jersey, I carried both the resilience I had built abroad and the awareness that something was still missing for me. After so many years of living with this disease, I still didn’t have a full sense of what being disabled meant to me.

Did living in America mean more wheelchair accessible pathways? That I had more rights as a person with a disability? That I would have more opportunities? I already knew that it meant more out-of-pocket expenses for my care. I had become frustrated with the healthcare system here and was also experiencing more limitations in my mobility as my disease progressed. By this time, I was using a power wheelchair and learning to navigate life with that.

It was the first time I acknowledged to myself that I needed to be around people who moved (or didn’t move) like me. Who knew what it was like to feel like your body isn’t your own, to know the creative energy that goes into finding solutions to open doors alone or using my core to reach down to pick up a stray sock. I was looking for people who knew firsthand what it meant to live in a disabled body.

After posting an ad looking for a caregiver in my building Facebook group, I got a message from a young lady named Carly who I learned lived across the hall from me. Her door is literally three steps away from mine. She had a spinal cord injury, and we bonded quickly, we talked about the realities of being a younger person with a disability: the logistics that shape every decision, the way people either underestimate us or put us on pedestals.

What struck me was the ease that we had with each other. With Carly, there was no need to explain or translate. I didn’t have to pause to define what accessibility meant in practice, or why something that looked “simple” from the outside carried ten layers of planning behind it. She just knew. And in turn, I knew when she talked about her own frustrations or victories.

Our first meeting was a unique one – I was alone in my apartment laying down on my bed with a heating pad. We had been messaging about meeting up until finally one evening we were both at home. I told her my front door was open and to come on into my bedroom. I didn’t have a caregiver so I couldn’t get out of bed, but I was also just way too comfy! I told myself, whoever she is, she’d better get used to this.  She walked into my bedroom, laughed, and sat down on my bed with me. Of course she understood. She’d been there too. We talked about doctors, family, friendships, about the strange mix of grief and gratitude that comes with disability. I remember feeling a new sense of connection that I hadn’t felt before. Carly wasn’t just a new neighbor. She was someone who recognized my reality in a way no one else quite had.

Sonali celebrates a birthday with friends and family.

I met another resident in my neighborhood who also uses a powerchair, Samuel. I saw Samuel coming home from high school one day on the bus. He came down on a lift and I drove right up to him and his mom to find out more. ‘Hey!’ I almost said, ‘I have a powerchair too!’ We chatted about our health and lives. He told me about where he goes for physical therapy. I followed his lead and started going to therapy at the same center with the same therapist – who I’m very happy with!

Another friend Nikhilesh and I have spent hours talking about Medicare, insurance, and the endless maze of paperwork that comes with managing a progressive condition. With him, I can vent about the frustrations of coverage gaps and celebrate small achievements when a claim finally goes through. These are not glamorous conversations, but they are profoundly gratifying. They remind me that I am not navigating this system alone.

Making space for belonging

Each of these relationships is different, but all are essential. They don’t replace my long-standing friendships; they add another dimension. It’s like speaking two languages fluently. With some friends, I share the language of memory and history. With others, I share the language of lived experience in a body with a disability. Both languages are vital. Both make me whole.

I was 20 years old when I was diagnosed. I’ll be 40 next year. Twenty years of navigating a life where care was essential to my every day, learning how to depend on others for help (a real challenge for me), and finding my community. Twenty years later, I see community differently. It’s not one circle, but many—overlapping and interwoven. Some friends hold my history. Others hold my present. Finding this balance has been one of the greatest gifts of my life. Twenty years later, I no longer ask whether I’ll “find my people.” I know I have—and they come from different corners, each one offering something distinct and irreplaceable.

If there’s one lesson I’ve learned in these twenty years, it’s that connection doesn’t always look the same. My long-time friends who have walked beside me through every chapter are just as precious as the intimacy of those who understand my reality through their own disabilities.

Community, I’ve learned, is less about finding one perfect fit and more about allowing space for multiple kinds of belonging.

The post Community Voices: Finding Connection in the Shared Language of Living with a Disability appeared first on Quest | Muscular Dystrophy Association.

Read the interview below or check out the podcast here.

Mindy Henderson: Welcome to the Quest Podcast, proudly presented by the Muscular Dystrophy Association as part of the Quest family of content. I’m your host, Mindy Henderson. Together we are here to bring thoughtful conversation to the neuromuscular disease community and beyond about issues affecting those with neuromuscular disease and other disabilities and those who love them. We are here for you to educate and inform, to demystify, to inspire and to entertain. We are here shining a light on all that makes you, you. Whether you are one of us, love someone who is or are on another journey altogether, thanks for joining. Now let’s get started.

Welcome, everyone, to a very special end-of-year episode with the Quest Podcast. As we close out another remarkable year, I wanted to take a moment to reflect, to celebrate, and to look ahead. Who better to do that with than our incredible MDA national ambassadors. Joining me today are two people who have spoken with their hearts and moved mountains all year long. Ira Walker, who is wrapping up his second year as a national ambassador, and Lily Sander, who just completed her first year and will be continuing to represent MDA into 2026. These two have been busy speaking and sharing their stories to empower our community, and I can’t wait for you to hear their reflections, favorite memories and hopes for the future. Let’s jump right in. Welcome to you both.

Ira Walker: Thank you for having us.

Lily Sander: Thank you so much, Mindy. It’s amazing to be here.

Mindy Henderson: Absolutely. I’m so glad you all are here. I’ve got 93 questions for the both of you. I’m so excited to hear more about your year and what comes next for both of you, so let’s just start with some reflection. It’s been an amazing year I know for both of you. Can you each tell me maybe what one moment or event is from this past year as national ambassadors that stand out as unforgettable for you? Let’s start with you, Lily. Ladies first.

Lily Sander: As national ambassadors, we get to do a lot of cool things, speak at various events and engage with the community in very meaningful ways. It’s hard to pick out just one moment that is especially meaningful, but I would definitely say that the small moments of connections with patients and parents of patients always really strike me as this is why we do the work that we do. We represent this community and we make these connections that really uplift us as national ambassadors, and it truly is in the small moments of connection for me.

Mindy Henderson: I love that. I love that. What about you, Ira?

Ira Walker: Absolutely. I completely agree with what Lily just stated. It is the small moments of connection that truly make it remarkable and are those really remarkable moments. For me personally, earlier this year, I had the opportunity to spend the day down in South Florida with Chris Lewis at a film screening. Now, for those who don’t know, Chris is the son of the great Jerry Lewis. It was a truly amazing opportunity to be in the presence of the son whose father is one of the early pioneers of awareness for MDA and the face of the telethons to help to raise millions for MDA. Now, although I never got to meet Jerry before his passing, sharing a moment with his son was significantly meaningful to me and an opportunity that I took to thank Jerry and his family for the hope and future that they helped to shepherd for many in the neuromuscular community. Again, this was truly an unforgettable occasion.

Mindy Henderson: Yeah. You actually wrote a beautiful blog. You’ve both written beautiful blogs for us over the course of the year, and I know that you wrote about that experience. People can look at the blog and see more about that interaction, but I know that it was special to you and their family really has done a lot for MDA just to make it the namesake that it is. I think we’re all really grateful to him. You both talk about connection, and for me also as a member of the neuromuscular community, I struggle every time I try to find the words to describe this community and how we come together and work together and help each other even from afar. It’s something that’s so special. I love that both of you honed in on that in your answers. Ira, as you wrap up your second year, how do you feel you’ve grown? You are spectacular. I’ve loved every interaction I’ve had with you and watching you work over the last couple of years. But whether personally or as an advocate, how do you feel like you’ve grown over the last couple of years?

Ira Walker: Well, first and foremost, thank you for those kudos and those kind words. Being the adult national ambassador has been the gift of a lifetime and something that I will always cherish. Being in the spotlight and being the face of an organization truly means the world to me. But truth be told, it wasn’t something that I saw it after or ever thought that would be a reality for me. See, I believe that it’s a true testament and a sign that you’re doing the right thing in life when an opportunity like being the base of an organization comes knocking at your door when you least expect it. See, I’ve grown exponentially as a man because of this opportunity in the way of leadership, and I hope that I’ve been able to positively advocate for our community demonstrating that even with neuromuscular conditions, one can truly live and thrive in a value-add society.

Mindy Henderson: Yeah. You guys are both proof positive of that. Your stories are so interesting, and you’re both such accomplished people. I absolutely adore both of you. It’s been such fun, Ira, over the last couple of years and such a privilege to have you as one of the faces of MDA. Lily, you too. What’s something that you’ve learned from Ira in your first year in the role that you’ll carry forward into next year?

Lily Sander: Yeah. Watching Ira has been incredible. Ira, I feel like you’re truly a masterclass in charisma and how to engage with people in such a meaningful way. I really value and appreciate how each and every person that he talks to, it’s as if he is giving them all of the attention in the world and he is really honed in on exactly what they are saying. With Ira, there’s never a thought or moment wasted. I really appreciate that intentionality and it’s definitely something that I have learned from and I hope to carry forward. Ira, I just cannot say enough about how just you’re so good with people and that’s the whole thing about this role is connecting with our community members. I know everyone feels it too, so thank you.

Mindy Henderson: Love it.

Ira Walker: Thanks for the kind words.

Mindy Henderson: Lily, I think you are the most articulate, well-spoken 18-year-old I have ever had the pleasure to know. You are remarkable as well. Ira, you just released a book that I think we should tell the listeners the name of. But before you do that, I’ve got to steal the note from Lily, and I think that your next book should be called Master Class in Charisma.

Ira Walker: I… Yeah. I just finished publishing my very first novel titled Torn Branches. Let me say it again, Torn Branches, and you can get it on Amazon, Apple, or on Barnesandnoble.com. It’s a dream come true to be a published author, and it is just the start of many to come. Now, I will say my next novel is already being written and the title is already set in stone, but for future novels, I do like the titles that you guys have provided. But I really enjoy writing fiction novels, and maybe one day I’ll write a nonfiction book maybe telling the story of somebody like Lily or somebody like Mindy who really are champions in our community.

Mindy Henderson: I love that. You’re so great, Ira. Let’s stay with you for a second, Ira. You’ve both connected with so many people across the MDA community this year, families, researchers, clinicians, volunteers, advocates. What’s something, Ira, maybe in the last two years even, something that’s surprised you or maybe inspired you the most about the MDA family?

Ira Walker: Absolutely love this question. I want to first discuss the makeup of our community for just a moment. See, the MDA community is comprised of many brilliant, creative, enterprising individuals. See, we are a community of doctors, lawyers, educators, entertainers, influencers, and leaders of all avenues of society to say the least. We undoubtedly are a value add in our community and the world. See, it doesn’t surprise me, but it may surprise some of the breadth and the depth of our community.

Mindy Henderson: Yeah.

Ira Walker: Now, I’m personally inspired by the strong desire that I see from people in our community to drive positive change and help our vibrant community continue to grow. See, I see this passion reflected most recently in the Hill Day gathering, the various fundraising efforts throughout the year and the wide range of awareness opportunities that we offer year-round. We truly are an amazing community of amazing individuals.

Mindy Henderson: So well said. I feel like… I don’t know. I’d be curious to know if you both agree with me or disagree with me, but I feel like the disability community, even more broadly than the neuromuscular community, is having a moment. There are so many voices emerging that are really truly forging ahead and working toward progress and bringing attention to this community I feel like than ever before. Maybe it’s just because I’m living in this time that I feel this way, but I do really feel like there’s a focus on representation in media and entertainment and things like that. I feel like people are hearing things from the disability community that are really going to move the needle. What are y’all’s thoughts?

Lily Sander: I definitely agree. I think we’ve always known our value and have always seen just this vibrancy within our community. But I agree, I definitely think people are starting to catch on to just the amazing, the diversity. Like Ira said, we are an accomplished people.

Mindy Henderson: Yeah.

Lily Sander: I feel like every time I’m talking to someone, I’m just blown away by their endeavors and their careers and in their families and personally. Definitely with social media, I think people are getting a taste of our community and understanding just how beautiful our connection is. I agree, and I think social media has been a big part of that.

Mindy Henderson: I think you’re right. That’s a really good point. Lily, I know that you’ve been plugged into the MDA family for a long time, but is there anything this year as an ambassador, as you’ve gotten even more plugged in that’s surprised you?

Lily Sander: I’ve been able to connect with more people. I wouldn’t say I’m surprised, but I’m affirmed of just the connection that we share and the beauty within our people. I’ve been able to expand my understanding of our community as I’ve been able to travel and connect with more patients. I think these universal truths that I already held about our community, such as how resilient, beautiful, educated, and I think it was just affirmed honestly with seeing people all over the country. It’s very encouraging too to talk to the next generation of kids, especially at Hill Day. I was talking to a ten-year-old boy who was there to advocate for his rights, and he was so excited to quote, “Make the laws better.” I’m just enthused by the younger generation stepping forth and making change in our community. I would just say my understanding of how beautiful we are has been affirmed, and I hope that it will continue to be.

Mindy Henderson: That’s such a lovely sentiment, and I know who that 10-year-old was that you were talking about. I had the funniest interaction with him. It just made my heart swell. It made me so happy. It was the day everybody was arriving for Hill Day, and I was waiting for an elevator. The doors open and he spotted me. We were getting on different elevators or I was getting on a different elevator than they were on, but he spotted me and he yelled out before the doors could close, “I’m an advocate too!” It was so beautiful. It just made my heart smile. Lily, like you said earlier, talking about the small moments of connection is sometimes the best moments are the little ones. Is there a conversation that maybe stands out or a connection with another ambassador or community member or it may be an MDA staffer that really has touched your heart this year?

Lily Sander: Oh, boy. There are so, so many. I feel like every time I’m at an MDA event or connecting with patients, I’m excited by the future and I see that beauty that we’ve talked about, but what’s really impactful for me is talking to parents who don’t have disabilities and connecting with them about their children. I’m taken aback by how resilient these children are, especially when they are so young, taking the world into their hands and using their disabilities to make our laws better, like we talked about. It’s really connecting with parents that gives me a different perspective. Obviously, I’m a patient. I don’t have that knowledge of raising a child with neuromuscular disease, but it makes me see the beauty in a different way. I would say connecting with parents is just really special, especially when [inaudible 00:17:58] say things like, “Oh, my kid looks up to you,” or “Your story has helped us as a family.” Those moments are surreal and not something to take for granted.

Mindy Henderson: Yeah. Actually, I just recently… I’m going to make you blush, but I just recently read a draft that you submitted for your next blog where you were giving advice to parents of kids living with neuromuscular disease. It is so wise. It was one of the most wonderful things I’ve ever read. Knowing that you wrote it from your heart as a young person living with neuromuscular disease, I hope that every parent who’s listening will go read it. It should be published by the time this blog goes live, and it’s full of such great advice. What about you, Ira? Is there a conversation or a moment that stands out to you?

Ira Walker: Yeah. I had the opportunity to visit the MDA summer camp down here in Florida this year. Now, from the age of six through 21, I attended summer camp up in my home state of Missouri, but this was the first time I visited a summer camp outside of the one from my adolescence. Now, I must say this was a pretty special moment for me, not only to go down memory lane for a minute and see kids having the time of their life at camp like I did some years ago, but this was an opportunity that I had to connect and inspire some kids.

I got to encourage some of the camper’s nearing adulthood that their future with their neuromuscular condition is bright, and I got to show them that they truly have a life of independence and happiness ahead of them. I did this by showing off my cool unique vehicle that I drive and describing [inaudible 00:20:06] exciting enterprising life that I have as a professional living the good life down here in South Florida. See, Mindy, that’s what makes it all worth it, when you’re able to inspire and excite those who may not know that their future is truly bright. It makes it all worth it.

Mindy Henderson: Yeah. Another good point. Everything that you guys say is just gold, but I also went to summer camp and it was an absolutely… It was such a pivotal experience in my life. I went I think from the time I was maybe 10 until I was about 17 or 18, and I feel like the whole trajectory of my life would’ve been different if I hadn’t gone to MDA summer camp because it taught me, yeah, a lot about independence and what the possibilities were for my life. I think one of the things that I didn’t have as much of when I was a kid was role models, adults who were living with neuromuscular disease and had fashioned lives for themselves, like what you’re talking about, Ira, and could really show tangibles like, yeah, you can drive.

Yeah, you can move to South Florida and whatever you want to do. I think that that’s another thing that you both do in your jobs as MDA national ambassadors is serve that role model function for kids who really need those examples of what they can go on and do. Being a national ambassador means being a voice for thousands of people living with neuromuscular disease. How do each of you approach that responsibility? Because I jokingly say jobs, but you’re both volunteers. You do this out of the goodness of your heart, and there is a heavy amount of responsibility that comes along with it. How do you approach it and what does representation mean to you? Lily, let’s start with you.

Lily Sander: Yeah. I love this question because this is something that I have reflected on a lot in the past year as national ambassador. We’re put in these situations where, you’re right, we are representing thousands of individuals and our communities are so diverse, so it’s important that we represent our community well, but also that we are including everyone in our representation. When I’m going on stage or speaking with donors and clinicians, I remind myself that this isn’t about me and truly I envision the families that I am representing, the families that maybe couldn’t be here, or maybe they don’t know how to access their voice yet. I really try to think of myself as a vessel for representing others, and that’s a great way to stay grounded and also to remember the gravity of this position.

Mindy Henderson: Love that. What about you, Ira?

Ira Walker: Yeah. I love this question. I want to first tackle how do I approach the responsibility? When I started my position as adult national ambassador, see, I made a mission and that mission was to encourage, inspire, uplift, and to emulate courage and the spirit of a champion while helping to guide others with neuromuscular conditions to reach for independent self-fulfillment and to be the very best versions of themselves. Now, I believe I’m successful in this mission when I conduct myself in all situations, circumstances and environments with character, moral, fiber, and excellence. Now, you asked about representation. I approach this question by saying this, it takes us all to make the world go around.

Mindy Henderson: Amen.

Ira Walker: Now, this is a philosophical sentiment my father instilled in me from a very young age, and it still rings loudly in my head today as an adult. I do think that everyone in our community brings great value to the table, and I’m hopeful that as national ambassador through the speeches that I provided, the advocacy that I participated in and in my article writing that I’ve been able to echo this sentiment.

Mindy Henderson: Beautiful. You both each independently gave me goosebumps with your answers. I know though that in your journeys there are silly things and funny things that happen. Is there anything you can regale our audience with that has happened over the course of your journey so far that was maybe the funniest or the most unexpected thing that’s happened?

Ira Walker: Listen, and this is a light-hearted… But something that’s very near and dear to my heart. Many across the nation aren’t familiar with the Ed Morse Automotive Group, but I want to say that the president of that group, Teddy Morse, is a great friend to MDA and to our community. Teddy lives down here in South Florida and hosts an annual golf event, and I’ve had the opportunity to spend time with Teddy through the golf event and some media interviews that we’ve shared on behalf of MDA. I want to say this, everyone needs a friend like Teddy. He’s an amazing guy and always the life of the party and always keeps it light, keeps it fun, keeps it humorous. When you say fun, excitement or humor, my mind goes straight to our amazing partner and friend, Teddy. It’s never a dull moment when Teddy is around, and I just want to personally state in this forum how grateful and thankful we are for Teddy Morse.

Mindy Henderson: I love that. Thank you, Teddy, for everything that you’ve done. I also want to be your friend. Ira makes you shine. What about you, Lily?

Lily Sander: Yeah. I would like to echo the fact that our roles are serious and there’s a lot of time for business, but also MDA staff become like family. Whether we’re traveling or having meetings, there’s a banter where we’re able to connect with each other and be humorous and fun. I would say that that’s one of the best parts is just connecting with staff and community members on the human level where we understand that we are all connected by neuromuscular disease, but we can also connect on other things and be humorous and be our full complete selves.

Mindy Henderson: Love it. I love it. Ira, I’m going to try and not get misty when I talk about this, but as you pass the torch, what advice would you give to Lily as she steps into her second year and to MDA ambassadors generally who live all over the country as they share their stories?

Ira Walker: I was hoping you were going to ask me this question. See, Lily is a young woman who has a tremendously bright future ahead of her. She is someone who is going to achieve amazing things, great things in life, reach for heights that some can only dream about, and someone who I am more than confident will be a significant voice and visionary leader no matter where life takes her. Lily, I want to speak to you personally and I want to offer this to you.

No matter where you go, no matter who you are around, no matter what others may say, do or believe, always keep an appetite for doing the right thing. See, what I’ve learned is that you never know who’s watching you in life or who will want to invest in you. But I truly believe this, if you always keep and hold a mindset of doing what is right and ethical, you’ll ultimately always win in the long run. I believe this, that life is a long dance, a marathon, if you will. What you across the finish line in first place is courageously doing the right thing. I am amazed by you and I know that you are going to make us proud. We’re counting on you. I’m counting on you, and I am excited to see you shine in the future.

Lily Sander: Thank you so much, Ira. Those words are so kind, and I’m so glad to have someone like you to look up to and to learn from. Thank you.

Mindy Henderson: I want to bottle that moment and package it. Lily, looking ahead now to 2026. First of all, we’re thrilled that you’re going to stick around and let us be part of your journey for another year, but what are you most excited about now in this second year in your ambassador role?

Lily Sander:  Yeah. First of all, I am thrilled to be given the opportunity to complete my second year. I am just honored to be in this position, and that’s never lost on me. I guess I’m just excited to enter a year where I know what to expect.

Mindy Henderson: Yeah.

Lily Sander: I feel like this year I’ve done a lot of learning and understanding my role, so I’m very excited to have a year where I have my bearings and hopefully my impact can go even further. I am so, so overjoyed and so excited for the future, although I’m so sad that Ira will be parting with us in this way. But the thing about our community is that we’re always in community with one another, so there never really is truly a good goodbye. He’ll be around.

Mindy Henderson: No.

Lily Sander:  We are so lucky for. Yeah. I’m just overall very [inaudible 00:31:36] excited.

Mindy Henderson:  I love that. Yeah. Ira can run, but he can’t hide.

Lily Sander: Yeah. Right.

Mindy Henderson: He’s stuck with us.

Lily Sander:  Yeah.

Ira Walker: I’ll be around. Absolutely.

Mindy Henderson: Perfect. Well, Ira, what are your hopes as you look ahead now with this ambassador journey as you check that off your list of dones? What are your hopes for the MDA community and for your own journey beyond this chapter?

Ira Walker: Absolutely. I hope to continue to discover ways to be a true value add for the neuromuscular community in any way that I can. I am truly proud to have published a novel this year. I know that now that I’m a published writer, one way that I know that I can be a value add is to continuously create more novels. I look forward to creating novels that highlight the strength of those with disabilities and hope that through my writing and many other avenues, I will continue to inspire and continue to shine a light towards hope.

Mindy Henderson: Beautiful. Well, we will look forward to reading those words that you write. A bit of a serious question and maybe the opportunity to pay homage to someone or something that has played a big role in your life, but I’m curious to know who or what keeps you motivated, keeps you showing up, speaking out and spreading hope because there are definitely tough days and sometimes it comes more easily and more naturally. What keeps you going, Ira?

Ira Walker: I really appreciate this question. I was recently asked a very similar question, and I want to share the response that I provided at that time. See, the future of our community is shaped by our youth, those who are coming right now and helping to really mold our community. It’s individuals such as Lily who demonstrates their dedication and they have such innovative thinking and a positive contribution to our community that gives us hope and a bright future. The talents and commitments of Lily along with others, emerging ambassadors, play an essential role in sustaining our community. That’s what keeps me motivated. That’s what keeps me wanting to continuously investing in our community and wanting to constantly write speeches and be involved are those who are coming [inaudible 00:34:47] and those who are wanting to truly be a positive voice in our community.

Mindy Henderson: Yeah. I think it’s so, so true. I think we’ve talked a lot about community in this conversation, and we truly lift together even when we’re not in the same room with each other. I feel like we feel each other and the strength of the community when we most need it. I agree. What about you, Lily? What keeps you going?

Lily Sander: Yeah. I would also say people coming after me. I know that sounds a little crazy because I am very young, but seeing just the next generation already coming into themselves. I recently met a four-year-old little girl who has the same diagnosis as me, and that was very impactful to know that her family has more resources than I did at her age. It truly is that I want anyone that comes after me, whether they don’t know they have neuromuscular disease currently or they’re not born yet. Just having people having the ability to have an easier time to be better connected in community, that’s what keeps me going. But as well as making my younger self proud, as cliche as it sounds. I always wanted to do something big for the neuromuscular community as it really served me, especially through MDA camp. That’s when I first found my voice. I am always thinking about how can I make her proud and how can I help the people who come after me have an easier time with this journey?

Mindy Henderson: Well said. Very well said. I’ve got two more questions that I want to ask each of you. No pressure, but I feel like there’s some really good wisdom coming. Not that there hasn’t been. We’re almost full up on wisdom here today, but two more questions. First question. As we close out the year, this podcast is our final episode of 2025, what’s one word or maybe a short phrase that sums up how you feel about 2025 and… Well, let me leave it there. Let me ask that question first. Lily?

Lily Sander:  I would say transformative. Yeah. Just in the way that our community has come together, I feel like every year we get better and we get better at supporting each other and we become better advocates and leaders. But especially this past year as my first year being national ambassador, it’s been a transformative experience and has taught me a lot. I think that’s where I’ll leave 2025.

Mindy Henderson: Amazing. Ira, how about you?

Ira Walker: The best is yet to come, and I think about that from a research and development with the various cures and treatments that are on the horizon for many of the various forms of muscular dystrophy. The best is yet to come.

Mindy Henderson: So well said. Finally then, what is the best piece of advice that each of you have been given by someone in your life that you would like to share with our listeners as we go into 2026? Lily, let’s throw that to you first.

Lily Sander: Yeah. My mother always has the best advice. She’s the wisest person I know, and she is truly the one that reminds me of the responsibility I have in this role, but also the privilege and to never get too caught up in… We do have a lot of responsibilities, so it can be easy to not see the absolute privilege that this role is and that working with an organization as amazing as MDA is. She’s the one that reminds me of my beginnings and gives me insight into my childhood and how to connect with others.

She’s also the one that gives me advice on my speeches and my blogs and really coaches me through life generally. She’s also the one that told me initially that I am a vessel for thousands of families, and that’s something to take seriously and to understand. She always has some tidbit of advice that I’m so grateful to hear. It’s just interesting to have her perspective as someone who doesn’t have neuromuscular disease. I would definitely [inaudible 00:39:53] anything that my mother tells me.

Mindy Henderson: Wow.

Lily Sander:  She’s always right. They say that. Right? They say your mother’s-

Mindy Henderson:  [inaudible 00:40:00]-

Lily Sander: … always [inaudible 00:40:00]. I think it’s true.

Mindy Henderson: It’s so true. That’s so true. Everyone remember that, your mother is always right. Your mother is fabulous. I’ve enjoyed getting to know her as well.

Ira Walker: She’s a lovely woman, isn’t she? She really is.

Mindy Henderson: She really, really is. Ira, I’m going to give you the last word here. What is the best piece of advice anyone’s ever given you?

Ira Walker: I’ve been fortunate that I have been raised by a father who has had a distinguished career of 37 years in law enforcement. It is been a blessing and it’s been one of the greatest gifts from God is being raised by somebody in law enforcement. Years ago, my father told me that it would be a mistake not to carry a smile and a spirit of gratefulness during each and every day of life. He followed up and advised that though challenges will present themselves along the way, the reality is that there are many people who would love to be in my position in life. I believe this to be true, and I hope that everyone is listening receives this advice and begins to or continues to approach life by presenting their very, very best because there’s always somebody that would love to be in your place in life. No matter the challenges that you’re going through, there’s always a reason to smile and to be grateful and to be hopeful.

Mindy Henderson: Y’all are so good. I am a little bit sad that our time has come to an end. I could talk to both of you forever. But I just want to thank you one more time for not just this time that you’ve spent with me today, but for all of the time that you’ve given to MDA and to our community. Ira, over the last two years. Lily, over this past year and the year to come. We are so grateful for you, and it’s truly a privilege to know both of you. You’re so special, and so thank you for all you do. I am looking forward to watching both of your journeys continue to unfold in the year to come.

Lily Sander: Thank you.

Mindy Henderson: Thank you, Mindy.

Lily Sander: Thank you. It was great. Amazing conversation. Thank you.

Mindy Henderson: Thank you for listening. For more information about the guests you heard from today, go check them out at mda.org/podcast. To learn more about the Muscular Dystrophy Association, the services we provide, how you can get involved and to subscribe to Quest Magazine or to Quest Newsletter, please go to mda.org/quest. If you enjoyed this episode, we’d be grateful if you’d leave a review. Go ahead and hit that subscribe button so we can keep bringing you great content and maybe share it with a friend or two. Thanks, everyone. Until next time, go be the light we all need in this world.

The post Quest Podcast: Wrapping Up 2025 with Ira and Lily appeared first on Quest | Muscular Dystrophy Association.

Symptoms of mitochondrial diseases

There are many different types of mitochondrial diseases, which can present with a wide range of clinical signs and symptoms. Skeletal muscles and the nervous system are commonly affected, but mitochondrial diseases can involve any organ system. Some clinical features that are commonly seen across mitochondrial disorders include:

• Muscle symptoms: weakness, exercise intolerance, fatigue, cramps, myalgia (pain and discomfort)
• Neurologic symptoms: developmental delay, seizures, stroke-like episodes
• Systemic involvement: cardiac, liver, kidney, endocrine, and gastrointestinal issues

Types of primary mitochondrial diseases

This post focuses specifically on primary mitochondrial diseases and not on conditions where mitochondrial dysfunction occurs secondary to another disorder. It is also not meant to be an exhaustive list of mitochondrial conditions, as this is a broad and complex area.

Primary mitochondrial diseases are diverse and may present differently in different individuals. They can be generally organized into four main clinical groups, based on which organs are affected and what symptoms occur.

Isolated Myopathic Forms

These disorders primarily affect skeletal muscle. Common features include exercise intolerance, proximal muscle weakness, and in some cases, breathing problems (respiratory insufficiency). Examples include:

·       Isolated mitochondrial myopathy caused by mtDNA or nDNA variants

·       TK2-related myopathy

·       Myopathic form of coenzyme Q10 deficiency

Ocular / Ophthalmoplegic Forms

These disorders primarily affect the eye muscles, leading to drooping eyelids (ptosis) and eye movement weakness (ophthalmoplegia). Some patients may experience mild systemic involvement, but the eye symptoms are usually most prominent. Key examples are:

·       Chronic progressive external ophthalmoplegia (CPEO)

·       Kearns–Sayre syndrome (KSS)

Encephalomyopathic Forms

These diseases affect both skeletal muscle and the central nervous system (CNS). Infants and children may present with low muscle tone (hypotonia), developmental delay, seizures, or buildup of lactic acid in the blood (lactic acidosis). Examples include:

·       Leigh syndrome

·       Alpers–Huttenlocher syndrome

·       Severe infantile mitochondrial encephalopathy

Multisystem Forms

These are the most complex mitochondrial diseases, affecting muscle along with multiple organs, including the brain, heart, liver, kidneys, endocrine system, and gastrointestinal tract. Examples include:

·       Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS)

·       Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)

·       Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)

·       Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE)

·       Maternally Inherited Diabetes and Deafness (MIDD)

·       Pearson Bone Marrow–Pancreas Syndrome (Pearson syndrome)

·       Barth Syndrome (Barth syndrome)

·       Primary Coenzyme Q10 Deficiency, multisystem forms (multisystem forms of CoQ10 deficiency)

For more information about the types and characteristic symptoms of primary mitochondrial diseases, as well as diagnostic and management concerns, an in-depth overview can be found here.

Cause of mitochondrial diseases

Mitochondrial diseases arise from genetic defects that disrupt normal mitochondrial function, and their causes are often complex. As noted above, these disorders can result from mutations in either mtDNA or nDNA, which encodes most mitochondrial proteins. Since mtDNA is inherited only from the mother, disorders caused by mtDNA mutations typically follow maternal inheritance patterns. People with mitochondrial disease normally have a mix of normal and mutated mtDNA in their cells, a state known as heteroplasmy. The proportion of mutated mtDNA can vary between tissues and change over time, and in general, a higher proportion of mutated mtDNA is associated with more severe disease. This variability in mutation load is a major reason why mitochondrial diseases differ so widely in severity and symptoms. Some individuals may have only mild, isolated muscle problems, while others develop progressive eye-movement difficulties, involvement of multiple organ systems, or severe brain and muscle disease beginning in infancy. Overlap between these patterns is also common.

As understanding of the mechanisms underlying mitochondrial diseases grows, these conditions are increasingly categorized by the types of genetic or biochemical defects that cause them, rather than solely by clinical features (as above). These categories reflect the nature of the underlying mutations. For example:

• mtDNA deletion syndromes – caused by large deletions of mtDNA; e.g., CPEO, KSS, Pearson syndrome
• mtDNA point mutations – single changes in mtDNA affecting specific mitochondrial proteins; e.g., MELAS, MERRF, NARP
• mtDNA depletion syndromes (MDS) – caused by a shortage of mtDNA due to mutations in nuclear genes needed to copy mtDNA; e.g., TK2-related myopathy, myopathic mtDNA depletion, hepatocerebral mtDNA depletion
• Coenzyme Q10 biosynthesis defects – mutations in nuclear genes that reduce production of coenzyme Q10, a key mitochondrial molecule; e.g., primary CoQ10 deficiency
• Nuclear DNA maintenance defects – mutations in nuclear genes that help keep mtDNA intact and replicate it correctly; e.g., POLG-related disorder, TWINKLE-related PEO

Current management of mitochondrial diseases

Management of primary mitochondrial diseases is generally supportive and tailored to each patient’s symptoms. This can include monitoring and treating complications such as respiratory failure, cardiomyopathy, seizures, muscle weakness, vision or hearing loss, diabetes, and neurological problems. Care typically involves a multidisciplinary team, and treatment plans are individualized. Some people explore approaches such as exercise, avoiding certain medications, dietary modifications, and supplements like CoQ10, creatine, or B vitamins, though evidence for these interventions varies.

A recent major advance in the treatment of mitochondrial disease is the U.S. Food and Drug Administration (FDA)’s approval of oral deoxynucleoside therapy (brand name Kygevvi) for TK2 deficiency. This new therapy provides a disease-specific treatment for a previously untreatable mitochondrial disease.

Evolving research and treatment landscape

While the standard of care is still symptom management, therapeutic development in mitochondrial diseases is advancing rapidly. Strategies under investigation include:

• Small molecule therapies to improve mitochondrial function
• Gene therapies targeting specific nuclear or mitochondrial gene defects
• mRNA-based approaches and gene editing for precise correction of underlying mutations

While most therapies are still in early clinical trials, these approaches aim to move beyond symptom management toward disease-modifying treatments. To learn more about clinical trial opportunities, visit clinicaltrials.gov and search for “mitochondrial disease” in the condition or disease field.

MDA’s work to further cutting-edge mitochondrial disease research

Since its inception, MDA has invested more than $26 million in mitochondrial disease research. Through strategic investments from MDA, partner advocacy groups, and the National Institutes of Health (NIH), mitochondrial disease research is advancing, offering hope for breakthroughs and a better future for those living with these complex conditions.

MDA’s Resource Center provides support, guidance, and resources for patients and families, including information about primary mitochondrial diseases, open clinical trials, and other services. Contact the MDA Resource Center at 1-833-ASK-MDA1 or [email protected].

The post Simply Stated: Updates in Primary Mitochondrial Diseases appeared first on Quest | Muscular Dystrophy Association.

MDA Hill Day 2025 (Team Massachusetts)

Here are the highlights of those impactful days.

By the numbers

Even with the government shutdown, MDA advocates came to D.C. in full force with record setting numbers. Their efforts made a difference, and here are the numbers to prove it:

• 125 total participants
• 26 states represented
• 106 meetings on Capitol Hill with lawmakers from both political parties, including many who serve on key committees or in leadership positions.

Three vital asks for Congress

The number of reforms and policies that Congress can pass to truly empower the neuromuscular community is endless. However, in order to make the most impact with a unified message, those attending MDA on the Hill came with a consistent message with three vital asks of their elected officials.

MDA Hill Day 2025 (Team Iowa)

• Protect National Institutes of Health (NIH) research funding, which has historically driven the discovery of life-changing therapies and cures.
• Cosponsor the ABC Act (Alleviating Barriers for Caregivers), which aims to simplify administrative processes for family caregivers.
• Reauthorize Enhanced ACA Premium Tax Credits, ensuring affordable healthcare coverage for people, including those with chronic and progressive conditions such as neuromuscular disease.

There’s no doubt Congressional offices heard MDA’s message loud and clear, and we are hopeful lawmakers will make progress on all three of these vital issues.

The Power of advocates’ stories

Relying on statistics or talking points around legislation is important, but MDA’s advocates took their legislative meetings to the next level by sharing their own personal, powerful experiences with their lawmakers. These personal stories “cut through the noise” and left a memorable impression on the Congressional offices that will last long after MDA on the Hill ended. Some experiences included:

• The effect of the Administration’s actions around NIH, including funding cuts and lab closures, and how Congress has an opportunity to reverse these actions and fully invest in this life-changing research.
• The administrative burdens caregivers face and how legislation such as the ABC Act could remove some of these hurdles.
• Sharing how much one’s own premiums would increase if the Enhanced ACA premium tax credits are not reauthorized and how that would affect families.

These stories powerfully demonstrated why Congress needs to act on these three issues in order to support the MDA Community.

MDA Hill Day 2025

What’s next?

The effort to pass these priorities doesn’t end with the conclusion of MDA on the Hill. MDA advocates will continue to advocate for these policies and will not stop raising their voices.

But we need more people to join us! Sign-up to be an advocate at mda.org/advocacy.

The post A Government Shutdown Couldn’t Stop Advocates During MDA on the Hill 2025 appeared first on Quest | Muscular Dystrophy Association.

Dancing with my parents at my brother’s wedding (April 2025)

I was born and raised in California, in an Arab household, surrounded by warmth, family, and support. As the first-born child, my mother noticed early signs of weakness and tiptoeing when I was three years old. By the age of six, I was diagnosed with beta-sarcoglycan deficiency, and in the fourth grade, I learned that I had a progressive condition called limb-girdle muscular dystrophy (LGMD). At that age, I didn’t fully understand what the diagnosis meant or how it would affect my life.

As I grew older, I began to recognize the deep-rooted stigmas and attitudes surrounding disability within the Arab community. Even though I had an uncle with the same condition, he never talked about it openly. Instead, he would make up wild stories about how he became disabled. Seeing someone so close avoid speaking about their disability revealed a painful reality: in many Arab households, disability is often met with shame, denial, fear, and prejudice. People with disabilities are often labeled as “not normal,” “a burden,” or “a failure.” Such labels can weigh heavily on a person’s sense of self, leaving them feeling incapable, unworthy, and misunderstood.

My mother faced her share of blame and judgment for giving birth to a child who wasn’t considered “healthy.” My grandfather tried everything he could from different diets, supplements, and even religious practices in hopes of “curing” me.  As an adolescent who relied on a walker for mobility, I was kept at home during weddings and community gatherings, while my cousins my age were free to attend and enjoy themselves. Although my family acted out of love and protection, their fear of judgment from the community left me feeling isolated and unseen.

At a protest in San Francisco for Gaza (October 2023)

When my uncle passed away in 2015, it profoundly changed my perspective on life. He was only 32 years old when he died from complications following gallbladder surgery that led to sepsis. I remember feeling an ache that words couldn’t describe, not only because I lost him, but also because of the quiet, confined life he had lived. He spent the majority of his days at home, watching movies, rarely stepping into the world beyond his walls. He avoided Arab gatherings, community events, and places where he might be seen because he carried the heavy burden of stigma, both from within and from the society around him.

After his death, I made a promise to myself: I will not live a life hidden in the shadows of shame or fear. I refuse to silence parts of myself to make others comfortable. My disability is not something to fix, hide, or apologize for—it’s a defining part of who I am. Every challenge I have faced and every victory I have achieved has shaped my character, my resilience, and my outlook on life. I vowed to live with purpose and authenticity, to show that true strength is measured not by physical ability, but by courage, perseverance, and self-acceptance. I want to become the voice my younger self needed to hear, and the representation my uncle never had.

I was determined to challenge the notions and stereotypes about disability within the Arab community. I began with my inner circle, educating my extended family and relatives. For example, I would answer my cousins’ questions about my daily life, helping them understand my experiences and breaking down misconceptions and biases. I also started sharing my story publicly, whether online or in conversations with people I met at events, hoping that visibility could help change perceptions. Over time, I became more comfortable in community spaces; I no longer shied away from Arab festivals, concerts, protests, or family gatherings. I love meeting new people, sharing my story, and educating others about my disability, turning each interaction into an opportunity to challenge stigma and foster understanding.

Beyond education and visibility, I also celebrate my achievements, including earning my bachelor’s degree, tutoring others, and working as a mental health coach at

Dancing with a stranger at Palestine Day (September 2022)

MindRight. In that role, I used psychoeducation and evidence-based practices to support students affected by trauma, offering guidance and a listening ear as they navigated the challenges of their everyday lives. These accomplishments directly challenge the stereotypes and low expectations often imposed on people with disabilities in the Arab community, showing that disability does not define ability or limit potential. More recently, I applied to volunteer as a Peer Buddy with MUHSEN, a nonprofit that advocates for and supports people with disabilities in the Muslim community, where I look forward to connecting virtually with individuals who have special needs. With Muhsen’s strong presence in the Arab community, I hope to be a positive voice, to help challenge stigma, and inspire others to embrace their abilities with pride and confidence.

While I still encounter stares or awkward smiles from time to time, they no longer hold me back. One of my proudest moments was attending my brother’s wedding, walking in front of 600 guests, smiling, dancing, and celebrating freely. It was especially meaningful because it took place in front of the very Arab community that once kept me hidden, a community whose judgment and whispers I had long feared. In that moment, I felt the chains of stigma break, and the fear and hesitation that once held me back fade away. I was fully seen, fully present, and unapologetically myself—a living testament to my courage, strength, and the beauty that comes from embracing my own identity.

The post MDA Ambassador Guest Blog: Breaking the Chains of Stigma in My Arab Community appeared first on Quest | Muscular Dystrophy Association.

The study

This is an observational study, which means that participants will not receive an investigational study drug. The study will include two age groups: (1) Individuals who are at least 16 years of age and (2) individuals who are between 6 and under 16 years of age. After an initial screening visit, eligible participants will be required to attend five doctor visits over a period of one year. The study doctor will collect medical information and perform routine study assessments, including laboratory tests (e.g. blood and urine), imaging, questionnaires, and safety assessments.

Study criteria

To be eligible for the research study, individuals must meet the following inclusion criteria:

• Male or female, ages ≥6 years at the time of signing the informed consent (and assent, if applicable).
• Diagnosis of FRDA, based on clinical phenotype and genotype (GAA expansion on both alleles), with onset of FRDA occurring at ≤25 years of age
• Confirmed left ventricular hypertrophy (LVH)
• Left ventricular ejection fraction ≥40%

Individuals may not be eligible to participate if they are affected by another condition or receiving another treatment that might interfere with the ability to undergo safe testing. Eligibility criteria will be evaluated by the clinical study doctor.

Interested in participating?

To learn more about the study or inquire about participation, visit the study website through this link or email [email protected].

The post Clinical Research Alert: Natural History Study of Individuals with Cardiomyopathy Associated with FRDA appeared first on Quest | Muscular Dystrophy Association.

The power of representation

Lily S.

A positive sense of self begins when children see people like themselves thriving and are able to connect with a community that understands them.

• Actively seek positive representation: Make an intentional effort to highlight disability in a positive light in media, toys, and books.
• Normalize mobility aids: Celebrate toys and characters, like a Barbie in a wheelchair or a character with orthotics, to help your child see their equipment as a normal and helpful tool.
• The goal: Cultivate a positive disability attitude by showing your child they belong to a visible, diverse, and vibrant world.

Foster deep community connection

Connecting with the disability community is life-changing, especially as children begin to understand what their diagnosis truly means.

• Peer understanding (for kids): Ensure your child has spaces where they are not “the different one.” Seek opportunities like the MDA Summer Camp and local community events to connect them with other children with disabilities.
• Adult role models: Introduce your child to adults with disabilities. Allow your child to see that all adults with disabilities can live successful and full lives!

Parent education, support, and community

Your knowledge and confidence directly support your child’s well-being and future advocacy, and you are not meant to do this alone.

• Get educated and find support: Commit to continually learning about the diagnosis and available resources. The MDA is a vast resource for tools, educational webinars, and mentorship programs.
• Find your community too (parents): Being a parent of a child with neuromuscular disease is hard and can be lonely. Find support groups for parents and caregivers. Other parents understand this journey best!
• Utilize Community Support Groups: Support groups designed for parents of children with neuromuscular disease to connect, get educated, and seek support are incredibly valuable through every stage of your journey.
• Search for online parenting advice: Look for Facebook groups or online discussion forums where parents can ask questions and get quick, practical advice from others who truly understand the day-to-day challenges of caregiving.

Supporting siblings and fostering family balance

Neuromuscular disease can and will change family dynamics.

• Educate siblings openly: Explain your child’s disease and needs to siblings in an age-appropriate way. Reiterate that these needs are just one part of who their sibling is, and that their sibling may need more help from parents, but that is okay. Embrace disability positivity and watch all of your children’s empathy and compassion grow!
• Be intentional with unaffected siblings: The needs of siblings without neuromuscular disease are equally important. Schedule dedicated, one-on-one time with each child. Ask them how they are feeling and acknowledge that their life is different because of their sibling’s condition.
• Shared family responsibility: The child with a disability should engage in appropriate chores and responsibilities and be an active part of the family structure, just like their siblings. Assign tasks that leverage their strengths (e.g., sorting laundry, reading to a younger sibling, supervising a pet) to foster independence and contribution.

Building confidence through honesty and advocacy

Open, honest discussion removes shame, builds self-trust, and equips your child to advocate for themselves.

• Embrace early and open dialogue: Initiate discussions about your child’s diagnosis and disability early and Your goal is to be disability-positive or neutral; never let shame enter the conversation.
• Encourage self-trust: Teach your child to trust their body and listen closely to their symptoms. Reinforce the fact that they know their body best and that their voice in medical and care settings is essential.
• Coach relentless advocacy: While you must be an advocate for your child, your ultimate role is to coach them to step into that role themselves, because they are their best advocate. Give your child the tools to speak up for themselves in the classroom and during 504/IEP meetings. Empower their unique voice and encourage them to take up space in every room they walk into.

Respecting their lived experience

Recognize that your role as a parent is to listen and learn from their unique perspective.

• Acknowledge your limits: Unless you have a disability, you will not fully comprehend the complexity of the disabled experience. Do not take offense if your child honestly and vulnerably says, “Mom/Dad, you just don’t get it,” because you don’t, at least from their perspective.
• Validate and learn: Humbly accept their understanding of their own experience. Listen with compassion and prioritize learning from your child and other adults with disabilities. Their experience is the ultimate authority.

A final word of encouragement

This journey is hard. There will be challenges, uncertainty, and moments that test your strength. But know this: it is so worth it, and it is beautiful. You are not alone. There are so many resources available, and the community you will find is one of the most incredible parts of this journey. Your child will grow up with resilience, empathy, and wisdom forged by their unique life experience. Keep advocating, keep loving, and keep connecting. You are doing an amazing job.

The post Life with Lily: Advice for Parents of Children with Neuromuscular Disease appeared first on Quest | Muscular Dystrophy Association.

The study

The MARLIN study does not include a new intervention or procedures such as laboratory tests or doctor visits. It is an observational study that consists of a series of questionnaires to be completed remotely, through a designated app. Participants enrolled in the study will be required to provide data via a questionnaire at the beginning of the study (baseline) and then annually for 3 years. There is also an option for the sexual partner/surrogate/gestational carrier of the enrolled participant to complete a baseline and annual questionnaire for 3 years. The questionnaires will include questions on the following topics: (1) demographic information, including age and race/ethnicity; (2) information about how long the participant has been on or was taking risdiplam; (3) medical history, medication, and lifestyle; (4) sexual history; (5) fertility journey, including tests and treatment the participant has undergone during attempts to conceive a child. For more information, please visit the study registry at the following link.

Study criteria

To be eligible for the MARLIN research study, individuals must meet the following inclusion criteria:

• Males with SMA between 18 and 50 years of age, who are taking or have taken risdiplam, and are trying to conceive a child or have previously conceived a child after taking risdiplam

Individuals may not be eligible to participate if they meet the following exclusion criteria:

• Males who are using/used donor sperm for conception
• Males who are using/used their own cryopreserved sperm that was not exposed to risdiplam for conception

Interested in participating?

A stipend will be provided to study participants for their time and effort.

People interested in participating can contact the study team by phone: 1-855-662-7546 (1-855-6MARLIN), email: [email protected], or by visiting the study website at the following link: https://marlinstudy.com/

The post Clinical Research Alert: Real World Study of Male Fertility Following Risdiplam Treatment appeared first on Quest | Muscular Dystrophy Association.

Jody Ellis

“Not only do people living with disabilities face higher rates of unemployment and lower wages, but the cost of living with a disability is also higher, requiring about 29% more income than a household without a disability,” says Jody Ellis, Director of the ABLE National Resource Center, managed by National Disability Institute. These additional costs, whether from healthcare, assistive technology, transportation, or caregiving, can make achieving financial stability difficult without support.

Fortunately, several programs and benefits are available to ease the financial burden of living with disabilities. Learning about these resources and understanding how they work can empower individuals and families to build independence and long-term security.

Here are some programs worth knowing about.

Financial programs

ABLE Accounts

ABLE stands for Achieving a Better Life Experience, and these versatile accounts allow people with disabilities to save without losing benefits. Funds grow tax-free and help protect assets from Medicaid and SSI resource limits, giving families flexibility and independence.

Funds up to $100,000 are not counted toward SSI assets and do not affect SSI benefits. Any amount of ABLE funds, up to the plan’s balance limit, is not counted as a resource for other public benefit programs (i.e., HUD, Medicaid, and SNAP)

“ABLE accounts open doors for opportunities, creating independence, promoting financial and community inclusion, and supporting financial empowerment,” Jody says.

Good to know:

• The ABLE account annual contribution limit is $20,000 in 2026 (higher for employed account holders).
• ABLE account funds may be used for qualified disability expenses (QDEs) and must benefit the account owner.
• Currently, a person is eligible for an ABLE account if their qualified disability began before age 26. However, on Jan. 1, 2026, eligibility will expand to anyone whose qualified disability began before age 46.

Special Needs Trusts

Special needs trusts (SNTs) protect inheritance, gifts, and larger sums while preserving eligibility for benefits. Unlike ABLE accounts, trusts do not have an annual contribution limit and are managed by a trustee.

There are two types of special needs trusts:

• First-party SNTs, funded with the beneficiary’s own assets (such as a settlement or back payment), must include a Medicaid payback provision.
• Third-party SNTs, funded by parents, relatives, or others, do not require Medicaid payback and can pass remaining funds to other heirs.

“Parents shouldn’t be leaving money in their child’s first-party trust — they need to set up a third-party trust,” says Bruce Sham, CLF, an advanced special care planner and founder of Special Journey Solutions.

As the father of a child with special needs, Bruce has firsthand experience with setting up a third-party SNT. “I’m leaving money to my daughter to supplement what she’s getting from government services, and it does not count against her,” he says. “She can’t touch the money directly — there’s a trustee who’s responsible for it, and they can only use it for her health, maintenance, and support.”

Good to know:

• SNT funds must be used for the beneficiary’s sole benefit. Even gifts or shared household items should be justified as benefiting the individual with disabilities.
• Money in an SNT cannot be paid directly to the beneficiary in cash or cash equivalents (like gift cards), or it will count as income and could jeopardize SSI and Medicaid eligibility.
• If the SNT pays for food or housing (such as groceries, rent, or mortgage payments), SSI benefits may be reduced because these are considered “in-kind support and maintenance.”
• SNTs and ABLE accounts can work together. For example, if a person received a sum higher than the ABLE annual contribution limit, they could save the excess in a trust account. Money from an SNT can also be deposited into an ABLE account. Housing expenses can be paid with ABLE funds without impacting the account owner’s monthly SSI payment amount.
• Some states require annual accountings or approval of trustee fees. Check your state’s SNT rules for specific requirements.

Tax deductions

Families managing disability-related expenses may qualify for various federal tax deductions and credits.

Good to know:

• Travel and lodging for medical care may qualify as deductible expenses. “Families often don’t realize that if they’re traveling to a conference, the hotel and the tickets are deductible expenses. Mileage is also deductible if you’re driving for medical care,” Bruce says.
• Always consult a tax professional familiar with disability-related deductions to ensure compliance and maximize your returns.
• For tips on finding a financial professional well-versed in disability considerations, read Financial Education and Planning Help You Take Charge of Your Financial Future.

Benefits programs

Children’s Health Insurance Program (CHIP)

CHIP provides low-cost or free health insurance coverage for children whose families earn too much to qualify for Medicaid but still need help affording care. It covers essentials such as doctor visits, prescriptions, hospital care, and, sometimes, dental or vision services.

Each state runs its own CHIP program, so benefits and cost-sharing rules differ. (Families can find details through their state’s Medicaid or CHIP office.) Most states cover children in families earning up to 200-300% of the Federal Poverty Level (FPL). For 2025, that’s about $62,000-$93,000 for a family of four.

Good to know:

• Many families pay no insurance premiums. When premiums apply, they’re often $0-$50 per child per month, with total costs capped at 5% of family income per year.
• States may charge small copays for office or ER visits, but preventive care (like checkups and vaccines) must be free.
• Children usually remain covered even if family income rises slightly, helping ensure consistent access to care.
• CHIP often works hand in hand with Medicaid to help ensure children get the care they need.

Medicaid

​​Medicaid is a joint federal and state health insurance program that helps people with limited income access essential care. For many people living with neuromuscular diseases, Medicaid provides necessary security, covering drugs, caregiving/home health, and hospital care that would otherwise be unaffordable.

The strict $2,000 asset limit can make financial planning tricky.

Good to know:

• Pensions, savings bonds, insurance policies, and, in some cases, even 529 college savings plans, can count toward the $2,000 asset limit.
• Once a child is 18, Medicaid looks at all their income and resources.
• It’s important not to confuse Medicaid with Medicare, which is a federal health insurance program for people 65 or older and people with disabilities. Enrolling in some Medicare Advantage plans can disqualify someone from essential Medicaid benefits. In addition, Medicaid offers benefits that Medicare typically doesn’t cover, such as personal care services.

Medicaid Buy-In and HIBI Programs

Some states offer Medicaid Buy-In or Health Insurance Buy-In (HIBI) programs that allow working individuals with disabilities to maintain Medicaid coverage while earning an income. These programs can make private insurance coverage affordable while preserving essential Medicaid services.

Lyza Weisman

“HIBI pays my premium, my deductible, my copay — Medicaid is covering it. It’s a huge help,” says Lyza Weisman, a law student from Colorado who lives with spinal muscular atrophy (SMA).

Good to know:

• Most states set income limits around 200-300% of the Federal Poverty Level (about $62,000-$93,000 for a family of four in 2025), but some state programs waive or raise asset limits.
• Monthly premiums or sliding-scale payments may apply, often modest compared to private insurance.
• HIBI programs may pay for part or all of a private insurance plan’s premiums, deductibles, and copays, keeping out-of-pocket costs very low.
• Check with your state Medicaid agency for specific availability and rules.

State Medicaid Waiver Services

State-specific waiver programs expand Medicaid coverage to services not typically included under standard plans, such as personal care, respite care, rehabilitation services, caregiving, behavioral supports, assistive technology, vehicle or home modifications, and employment assistance.

Requirements vary, but most waivers are for people who meet the level of care required to qualify for care in a nursing home or similar facility. Waiver programs are intended to help individuals avoid institutional care and remain in their communities.

Good to know:

• Some waiver programs allow participants to qualify based only on their individual income, not household income. This makes it easier for children or adults with disabilities to qualify even if parents or spouses earn more.
• Some waivers will compensate family caregivers, such as parents or spouses.
• Waivers often have waitlists, so applying early is crucial.
• Learn about your state’s waiver programs by visiting the Medicaid State Waivers List or searching for your state’s Department of Health or Human Services website.

Supplemental Security Income (SSI)

The Social Security Administration offers two main disability benefit programs: Supplemental Security Income (SSI) and Social Security Disability Insurance (SSDI). (Read on for information on SSDI.)

SSI provides monthly payments to individuals with disabilities who have limited income and resources. It’s often the first program that young adults with disabilities qualify for upon turning 18.

For children under 18 to be eligible, the child and parents must meet disability and income rules. The maximum monthly SSI payment in 2025 is $967 for an individual and $1,450 for a couple, although the exact amount can vary by state and is based on income and other factors.

Good to know:

• SSI benefits may be impacted by savings and income, but programs like ABLE accounts (see the section on ABLE accounts above) can help preserve eligibility.
• Families should track earnings carefully because overpayments may occur if their income increases and the increase isn’t reported right away.

Social Security Disability Insurance (SSDI)

SSDI supports individuals who have worked and paid Social Security taxes, as well as certain dependents of retirees or deceased workers.

Young adults with a disability between the ages of 18 and 22 may continue receiving benefits under special provisions if a parent is deceased, retired, or receiving Social Security. Additionally, children who qualify before age 22 can later receive half of a parent’s retirement benefit. “This means that if I’m retired and getting $3,000, my daughter may be eligible for $1,500,” Bruce says.

Good to know:

• The SSDI application process can be lengthy, often resulting in a delay between the initial application and benefits approval. In this case, recipients can apply for back payments for the months they were eligible but had not yet been approved.
• SSDI recipients should also be aware that they may owe repayments if they continue to receive benefits when they are not eligible. “If you get a job, it can take them three to four months to stop payments, but you do owe that money back,” cautions Lyza.

Vocational Rehabilitation (VR)

VR programs, which are typically run through a state’s Department of Education or Labor, help participants with disabilities prepare for, obtain, and retain employment. They offer assistance in paying for education, training, assistive technology, vehicle modifications, and professional coaching.

Lyza Weisman credits VR with making her legal career possible. “They helped me pay for law school, get my desk, phone, software, and my vehicle modification, which was $126,000,” she says. “Altogether, they’ve given me over $250,000.”

Good to know:

• VR isn’t just for job seekers. They can also assist if you’re already employed and develop a new disability or need workplace accommodations.
• VR counselors often coordinate with schools, employers, or community agencies to help create a personalized employment plan that aligns with your goals and strengths.
• Every state has a VR office or agency. Find yours through the State Vocational Rehabilitation Agencies directory on the US Department of Education’s Rehabilitation Services Administration website.

The post Quick Guide: Understanding Programs and Benefits for People with Disabilities appeared first on Quest | Muscular Dystrophy Association.

In How to Have Your Best Holiday Season Yet, we check in with experts and community members for their advice on how to address five common holiday challenges so that you can stress less and focus more on the happiness of the season. Check out their advice here and read more below for useful holiday hacks and advice.

Hosting and Cooking Made Easy

Hosting a holiday gathering or preparing a meal for friends and family often requires a lot of planning, prepping, and work. For those living with a disability, the process can entail extra considerations. From mindset and perspective to innovative gadgets and life hacks, we have the tools and tips you need for hassle-free holiday hosting.

In Stress Free Holiday Entertaining, community members and experts share how the right mindset, taking the time to plan and prepare, remembering to have a good time, and giving gratefully can minimize your holiday hosting stress and help you remember why you are having the party in the first place.

The holiday season is synonymous with the gathering of friends and family to share a meal. Whether hosting dinner or creating a dish to bring to a loved one’s home, meal prep and cooking are key elements of holiday festivities. For those living with neuromuscular disease, muscle weakness, fatigue, and limited range of motion can make meal preparation challenging. In Holiday Hosting Hacks for Thanksgiving Dinner, we share tools and tips that can increase independence, safety, and accessibility in and out of the kitchen for every holiday.

Gabby Disalvo

Growing up as a full-time wheelchair user living with myofibrillar myopathy (MFM), 21-year-old Gabby DiSalvo always considered the kitchen an inaccessible place, until she began cooking during the Covid-19 quarantine and fell in love with the process. She started an accessible cooking blog, Cooking on Wheels, to share her passion and advice with others, and even appeared as a guest on the Rachael Ray Show. In Cooking with a Disability? Yes, Chef!, Gabby shares adaptive cooking hacks, advice for cooking with a disability, and helpful holiday tips.

MDA Ambassador Barbara Ochoa, who lives with myotonic dystrophy (DM), is also passionate about cooking. In her MDA Ambassador Guest Blog: Cooking Tips & Tricks Just in Time for the Holidays, she shares how she has adapted in the kitchen as her disease progresses. From planning ahead and embracing the InstaPot to finding ways to increase nutritional value and holiday hosing hacks, she shares advice that resonates for a quiet dinner at home or happy holiday gathering.

And if you are hosting a large gathering at your home, presenting a clean home to your guests is often just as high on the to-do list as the menu. The cleaning tips, tricks, and tools in Accessible Spring Cleaning Tools & Tips can make cleaning your home a more accessible, efficient, and independent experience during the holidays and all year long.

Take the guess work out of gift giving

Another key aspect of the holiday season for many people is gift giving. For those who participate in gift giving, finding the perfect gift for everyone on your holiday shopping list can sometimes feel a little overwhelming. On the flip side, when others ask you what is on your holiday wish list, it might be a challenge to provide suggestions.

In Creative and Budget-Friendly Gifts to Say Thank You to Your Caregivers, we share gift ideas that friends, loved ones, and caregivers alike will love. From small tokens of appreciation and self-care items to thoughtful personal-interest gifts and treats that everyone will love, you are sure to find great gift ideas that won’t break the bank.

For the readers in your life, National Read a Book Day: Spotlight on Community Authors and Books to Add to Your Holiday Shopping List This Year: Spotlight on Community Authors feature books written by members of the neuromuscular disease community. Including motivational books, personal memoirs, fiction, poetry, children’s books, and books about parenting, you’re certain to find something here for every book lover on your holiday shopping list.

The MDA Quest Media Holiday Product Guide is the perfect place to shop for gift-giving inspiration and possibly find a thing or two for your own wish list. This guide is designed to help you find tried-and-true products that make life more independent, stylish, and fun. All the products on this curated list were chosen by MDA Ambassadors, who shared exactly how each product helps them in their daily lives.

Accessible holiday travel tips

Traveling to visit family or friends during the holiday season is often an added stressor for those living with disabilities. In the articles below, we share expert tips from seasoned travelers as they share their advice on how to navigate flying, ground travel, and avoid mishaps while traveling with a wheelchair and/or medical equipment.

• MDA Ambassadors Share Tips for Flying with Power Wheelchairs and Medical Equipment
• Airplane Travel Tips from a One Million Mile Traveler
• Quest Podcast Episode 29: Expert Accessible Travel Tips for Your Next Vacation
• Travelers with Disabilities Share Their Top Tips to Avoid Mishaps
• Essential Gear for Traveling with a Disability

Managing stress and finding joy

The holidays are meant to be a joyful season, but in reality – the season can often also bring stress. In Holiday Cheer: Smart Tips to Manage the Stress of the Season and the Quest Podcast Episode 9: Combating the Stress of the Holidays, we offer applicable advice so that you can stress less and enjoy the season more.

Creating simple holiday traditions is also an easy and special way to create meaningful memories while making the busy holiday season a little happier and brighter. Celebrating special traditions, either on your own or with loved ones, adds excitement and joy to your holiday season with magical moments each year. Make your holiday season a little brighter with the fun and easy ideas in Holiday Traditions to Make Your Season Happier.

Staying cozy at home

Allyson Pack-Adair

While the holiday season is a busy time of gathering for many, for many others it is a quieter season spent at home. For those who don’t have local family and friends to gather with, the holidays and winter season can sometimes bring feelings of loneliness. If this time of year weighs you down, Coping with Loneliness at the Holidays offers strategies to lessen loneliness from people in the neuromuscular disease community who have been there. Ally Pack-Adair, who lives with a mitochondrial disease, says that feelings of loneliness and isolation often hit her harder around the holiday season – and that focusing on her mental health helps her to cope. In her MDA Ambassador Guest Blog: Prioritizing Mental Health to Beat the Winter Blues, she reminds others in the community that they are not alone and shares her strategies to deal with negative feelings and embrace the season.

One way to embrace the season is by enjoying rest and relaxation in the cozy comfort of your own home. Get Cozy with Accessibility and Independence This Winter provides products and hacks that can help you snuggle in, cozy up, and enjoy your favorite leisure-time activities with accessibility and independence.

Another powerful way to increase happiness is by adopting the habit of practicing gratitude. Choosing to approach each day and experience with gratitude can have a significant impact on your mental, emotional, social, and even physical health. Seven Easy and Effective Ways to Increase Gratitude in Your Life shares simple practices that can help you cultivate a level of appreciation in your life that will make you happier and healthier – during the holiday season and all year long.

The post Tis the Season for Holiday Hacks and Tips appeared first on Quest | Muscular Dystrophy Association.

One of the top challenges shared with MDA’s Resource Center by family caregivers is difficulty working with state and federal agencies to get the benefits their loved ones need, whether it be health insurance and home and community-based services through Medicaid or disability benefits like SSI. They report frustrating experiences of invasive, repetitive paperwork, waiting hours to speak to someone, difficulty scheduling in-person appointments – exacerbated by staffing and field office reductions, complicated application processes leading to frequent denials, and more. These hurdles result in barriers to obtaining necessary care and benefits that enable independence. For the neuromuscular community, time is muscle, and families cannot afford to waste hours overcoming bureaucratic hurdles.

Fortunately, there is bipartisan interest in reducing the administrative burdens on family caregivers through the Alleviating Barriers for Caregivers (ABC) Act (H.R. 2491/S. 1227). This November, MDA united advocates from across the country in the nation’s capital to advocate in support of this legislation to reduce bureaucratic red tape in benefits navigation for family caregivers and individuals affected by neuromuscular diseases.

Here are five things to know about the bill:

What does the bill do?

The bill requires the Centers for Medicaid and Medicare Services (CMS), which is the federal agency that provides health coverage through Medicare, Medicaid, and the Children’s Health Insurance Program (CHIP), and the Social Security Administration, which is the federal agency that administers disability benefits like Social Security Disability Insurance and manages Supplemental Security Income (SSI), to review and simplify processes, procedures, forms, and communications for family caregivers to help individuals determine eligibility, enroll in benefits, maintain coverage, and utilize the full benefits available under those programs.

What would the review include?

There are specific goals outlined in the legislation, including:

• Streamlining policies and simplifying procedures, as well as reducing the frequency of providing the same information more than once, completing multiple documents for each agency, or providing information to agencies they already have or could easily obtain from another agency
• Making it easier for family caregivers to work with state and federal agencies by:
  • Decreasing call waiting times and ensuring agencies provide timely answers.
  • Improving website accessibility.
  • Improving timely access to in-person appointments or meetings.
  • Providing translation or interpretation services and improving the relationship between family caregivers and agencies, such as through regular meetings with family caregivers and individuals eligible for, filing for, or receiving benefits.

Importantly, the legislation requires that agency officials must seek input from family caregivers, including caregivers with disabilities, and individuals filing for or receiving services in conducting the review, ensuring that people affected by neuromuscular diseases are actively involved in developing solutions.

Who supports the bill?

The bill was introduced by Senators Ed Markey (D-MA) and Shelley Moore Capito (R-WV) in the Senate, and Representatives Kat Cammack (R-FL) and Seth Magaziner (D-RI) in the House of Representatives. The bill enjoys broad bipartisan support in both chambers.

Where is the bill in the legislative process?

The bill has been introduced in the second session of the 119^th Congress in both chambers and referred to the relevant committees for further action. In the House, it has been referred to both the Ways and Means Committee, which is responsible for overseeing Social Security issues, and the Energy and Commerce Committee, which oversees health issues. While committee activity largely stalled during the government shutdown, it has started to pick back up with the reopening of the government. Hearings on the legislation have not yet been announced.

What can I do to garner support?

Prior to committee activity, which is expected to pick up with the government reopening, it is important to have as many bipartisan co-sponsors on the legislation as possible. Reach out to your Senators and Representative and let them know why supporting family caregivers is important to you and how administrative burdens related to caregiving responsibilities have impacted your life. Urge them to co-sponsor the legislation (H.R. 2491/S. 1227). If your member is already a co-sponsor of the Senate or House bill (you can check here for the House and here for the Senate), share your thanks and urge action!

Are you interested in engaging with MDA Advocacy on caregiving or other issues? Join our Action Network or contact [email protected]. Share your caregiving story with us to better inform our advocacy work on the ABC Act and other caregiving issues. We will never share your story without your permission.

The post 5 Things Advocates Should Know: The Alleviating Barriers for Caregivers Act appeared first on Quest | Muscular Dystrophy Association.

Each of the caregivers featured here has learned that strength is built in the pauses — a moment of quiet, a trusted partner’s support, a laugh with friends, or a creative outlet that reconnects them to their identity.

Their wisdom reminds us that resilience doesn’t come from pushing endlessly forward, but from intentionally carving out space to breathe, reflect, and reconnect. They show us that by honoring our own well-being, we not only sustain ourselves — we deepen our capacity to care for the ones we love.

Christie West: Taking a minute, writing it out, leaning on community

Christie West and Zach enjoy activities and service projects.

When Christie talks about self-care, she doesn’t just mean something fun and relaxing. She means the gritty, practical work of pausing, processing, and plugging into people, so she can keep showing up for her 28-year-old son, Zach. She adopted Zach, who lives with Duchenne muscular dystrophy (DMD), when he was 3 years old.

First, she gives herself permission to “take a minute.” In moments when emotions run high, Christie reminds herself of a simple mantra: Emotions are normal. I just need a minute. For caregivers, she says, a brief reset is not indulgence — it’s maintenance. Sometimes it’s a hallway cry, sometimes it’s 10 minutes with an audiobook, praise music, or even tidying a pantry — anything small that restores a sense of control when so much feels uncontrollable. She schedules those minutes like meetings: short, protected blocks of time when she can focus on herself.

Second, she journals and invites Zach to do the same. “Your brain doesn’t know the difference between talking to someone and writing it out,” she explains. When anxiety swells, the page becomes a pressure valve. Journaling also serves as a tool to prepare for conversations: Dump it in the notebook first, then let’s talk about what is left to process. That rhythm lightens the emotional load and makes the conversation calmer and clearer.

Finally, Christie insists on community. Healing accelerates when she’s among people she has a connection with, whether that’s fellow MDA Ambassadors, Miracle League baseball teammates, teachers, counselors, or volunteers at the animal shelter. She also ensures Zach has community. With MDA Advocacy trips to Washington, DC, online connections, and service projects, Zach experiences himself as a person with purpose. That experience feeds Christie, too.

Her playbook is simple, though not easy: take a minute, write it out, don’t go it alone. In those small, consistent choices, a caregiver’s strength is replenished, and love has room to keep doing its quiet, extraordinary work.

Karen Clough: Gardening, art, laughter, and pool time

For Karen, self-care isn’t complicated or time-consuming; it’s a string of small, sensory pauses that make the day more enjoyable.

Karen Clough relaxes on her patio.

Most mornings start on the patio with coffee, prayer, Bible reading, birdsong, and her desert garden. She crushes a sprig of basil between her fingers, breathes in the sharp, green scent, and feels a sense of peace. Tending to plants gives her something tangible to nurture and watch grow, a comforting counterbalance when so much about her husband, Doug’s, amyotrophic lateral sclerosis (ALS) diagnosis resists control.

Inside her home, Karen keeps an upstairs corner stocked with watercolor supplies. Taking a half hour to draw or paint is enough — a quiet pocket where she is a learner again, not just a planner and problem-solver.

Some days, she opens her laptop to join a Zoom laughter yoga class, led by a certified laughter yoga leader and health coach. It’s simple by design: breathing, using physical sensations to anchor yourself in the moment, and, yes, laughing at silly prompts until the mood lifts. She loves the science of it (the body gets the same boost from a practiced laugh as a spontaneous one), but mostly she loves how it resets her mind. In 30 minutes, her shoulders drop; the list can wait.

Some of Karen’s best self-care happens along with Doug. Thanks to donated pool equipment and a bit of ingenuity, he can transfer into their backyard pool. In the water, his body feels lighter; they float, talk, and relax. It’s a cooling relief from the Arizona heat — and an emotional one, too. The pool is where they move together, laugh with grandkids, and feel a slice of normal.

None of this erases the responsibilities of caregiving, or the vigilance. But it brings joy on ordinary days: a hummingbird at the feeder, a wash of color on paper, a chorus of giggles on Zoom, the buoyancy of shared water. These small rituals don’t just pass the time — they restore the part of her that keeps choosing patience, presence, and hope.

Gavin Beeker: Cooking, reading, and welcoming others in

Gavin Beeker and Ranae welcome family into their home.

Gavin, 38, didn’t plan on becoming a full-time caregiver, but when his mom, Ranae, 67, who lives with facioscapulohumeral muscular dystrophy (FSHD), took a dangerous fall, he sold his house and moved in. What followed is what he describes as a 24/7 role overseeing morning routines, meals, meds, and household logistics, with breaks woven around Ranae’s volunteer work and frequent visits from extended family and friends.

Their house became a hub. And in that busy orbit, Gavin found a self-care rhythm that keeps him steady: reading, learning a new language, cooking, and welcoming people to the table.

Cooking is where he exhales. It’s tactile, creative, and finishable — an antidote to the open-endedness of caregiving. Food gives him a way to contribute something beautiful and concrete on days when little else feels within his control.

Reading offers a different refuge. He’s teaching himself to read German — slowly, deliberately — because the challenge engages his mind and reminds him that growth is still happening, even when the body has limits.

Entertaining ties it all together. Hosting is not just social; it’s therapeutic. A full living room means Ranae laughs more, and Gavin feels less alone. The conversation, the clink of cups, the easy coming and going — it restores them both.

The path here wasn’t linear. After his own emotional struggles, Gavin sought therapy that helped him build healthier coping tools. That reckoning became a turning point.

And although he shares the same diagnosis as his mom, who is passionately involved in MDA advocacy, he prefers the quiet dignity of learning and craft — pursuits that reinforce self-worth even as the body changes.

His self-care isn’t grand or rarefied. It’s soup on the stove, a paragraph in a new language, a door open to family. In that everyday hospitality, Gavin protects his stamina and keeps the home warm and welcoming.

Lillie Cleeton: Strength in support, teaching, and advocacy

For Lillie, caregiving has been a lifelong role that she shares with her husband, Ken. Their son, KL, was diagnosed with spinal muscular atrophy (SMA) as an infant and now, at 36, requires full-time caregiving. For many years, Lillie poured herself entirely into the work — overnight shifts, full days of balancing a job and being “everything for everyone.” It wasn’t until her own health broke down that she realized how unsustainable that approach was.

Lillie and Ken Cleeton take time to laugh and recharge.

Today, she talks openly about the lessons she learned the hard way. “If you don’t take care of yourself, it will catch up with you,” she says. “I hurt myself physically, emotionally, and mentally because I thought I couldn’t stop.”

That realization now fuels her work training other caregivers in Illinois. As an instructor through the Member Education Training Center, she urges them to pause, even if just for five minutes. “Take a breath, take a walk, go to a movie, get your nails done — something that’s just for you. Because if you don’t, you won’t be able to keep going,” she says.

She credits Ken as the “rock” who makes it possible to keep going. He handles much of the physical lifting, and his steady presence anchors their family. Friends, too, play an important role, offering weekends away to see grandchildren or simply time to laugh and recharge.

Lillie admits the guilt of stepping away never fully disappears, but she now knows breaks are not optional — they’re survival.

Adding inspiration is KL himself. He thrives as a professional poker player and an MDA advocate, with a girlfriend and a community of peers who push him forward. Watching him live fully, chase opportunities, and speak out for others gives Lillie and Ken fresh courage.

Her advice is simple, born of experience: choose your hard, choose to laugh, and above all, choose to care for yourself, so you can keep caring for the ones you love.

Quick Tips From Caregivers

Simple ways to protect your energy while caring for others:

• Take breaks. Even 5-10 minutes to breathe, pray, or reset can make the day better.
• Write it out. Journaling helps process emotions and lighten the mental load.
• Get creative. Whether trying a new recipe, painting, or learning a new language, creative outlets restore balance.
• Lean on your people. Family, friends, and peer groups provide perspective and laughter. Don’t go it alone.
• Teach and share. Helping other caregivers reinforces the importance of your own self-care.
• Laugh often. Join a group, tell stories, or just practice a laugh — the brain feels the benefit either way.
• Step outside. Gardens, patios, fresh air, and sunshine refresh body and spirit.
• Move together. Shared activities — like floating in a pool or cooking as a family — bring joy and connection.
• Remember: You matter. Caring for yourself is not shirking caregiving — it’s what makes it possible.

The post The Hidden Power of Self-Care in Caregiving appeared first on Quest | Muscular Dystrophy Association.

Congratulations to our 2025 Quest Media photo contest winner, Paula Saxton, of Doylestown, Pennsylvania, who submitted the photo above of her son, Jake.

Sports photographer Karla Donohoe captured this moment of celebration after Jake scored a goal in the opening game of the 2025 North American Powerhockey Cup. His team, the Philadelphia Flyers PowerPlay, won the game against the Michigan Mustangs and went on to capture the championship.

“As a player, there is nothing more thrilling than tournament play,” says Jake, 22, who lives with spinal muscular atrophy (SMA). “I loved seeing the competitiveness on display from my teammates, coaches, and even our fans. The will to win was on high display throughout the weekend, making it something I will never forget.”

Jake started playing power hockey when he was 7 and loves how the sport welcomes competitors with different abilities, skills, and experiences.

“This team is made up of many selfless individuals who understand we each have a role to play in order to win, where everyone’s contributions are never overlooked,” he says of the Philadelphia Flyers PowerPlay. Like Jake, several of his teammates are MDA Summer Camp alumni. Read more about the team and the excitement of power hockey in MDA Summer Camp Alumni Put the Power in Powerhockey.

The O’Sullivan family, from left to right: Marcus, Zachary, Allison, Aubrey, and Brandon

Fun on Wheels

Congratulations to Allison O’Sullivan of Southern Illinois, a runner-up in the 2025 Quest Media Photo Contest. This photo was taken while celebrating her daughter, Aubrey’s, seventh birthday in June. Aubrey lives with reducing body myopathy, a rapidly progressing muscle disease, and the family must take extra precautions to avoid germ exposure.

“We rented a roller skating rink for an hour and had a blast as a family zooming around the rink to her favorite songs,” Allison says.

Lucas Garrett, photo courtesy of Stephanie J. Bartik

Striking a Chord

Congratulations to Lucas Garrett of Queensbury, New York, a runner-up in the 2025 Quest Media Photo Contest. Photographer Stephanie J. Bartik took this photo in December 2024 at the Strand Theater in Hudson Falls, New York, to promote Lucas’s live shows in Upstate New York.

“This photo is special to me because it highlights one of the main things that gives my life purpose: music,” Lucas says.

The 32-year-old singer-songwriter, who lives with Pompe disease, has also released a vinyl record, “Reaching Through Dreams” (lucasgarrettmusic.com).

Rachael Bae, photo courtesy of Pastor Seoplee Kim

The Joy of Song

Congratulations to Rachael Bae of Placentia, California, a runner-up in the 2025 Quest Media Photo Contest. Rachael, 21, has been active as a vocalist and speaker at churches, concerts, and events since she began using a power wheelchair in 2016 due to Ullrich muscular dystrophy. In 2018, she released “Grace,” her first digital single album, with a song written and composed by her mother (youtube.com/RachaelBae).

“This photograph was chosen as the cover image for that special album, symbolizing both the challenges of living with muscular dystrophy and the joy of expressing hope and faith through music,” she says.

The post Meet Our 2025 MDA Quest Photo Contest Winners appeared first on Quest | Muscular Dystrophy Association.

Thriving in college

When I was in high school in Clarksville, Maryland, I knew I wanted to attend a four-year college, and I worked hard in physical therapy to master the activities of daily living I would need to live independently on campus.

Naomi at Princeton University

Educational attainment is lower for disabled people due to the many physical and attitudinal barriers in higher education. A 2025 analysis by the Bureau of Labor Statistics found that about 23% of people living with disabilities have a bachelor’s degree or higher, compared with about 42% of people without disabilities.

As a high schooler, I didn’t know many people with my diagnosis of congenital fiber type disproportion, or other neuromuscular diseases, who went away to college, so it was hard to imagine what was possible for me. Luckily, I visited a friend from MDA Summer Camp at her college, which opened my eyes to the resources available to college students with disabilities and showed me I could thrive on campus.

I applied to several colleges and was fortunate enough to be accepted to Princeton University in New Jersey. At first, I was worried about how I would navigate the campus in my wheelchair. After all, the school is older than the country itself.

I visited the campus and met with the college’s Office of Disability Services, which settled most of my nerves. I think these two steps are essential for all students with disabilities considering a specific school, because seeing the school in person and meeting the office that provides essential accommodations is the best way to determine if the school is a good fit.

Finding my calling

I graduated from Princeton in 2022 with a major in Public and International Affairs and certificates in Journalism and Gender and Sexuality Studies.

I had the most amazing experience that taught me so much, both in the traditional academic sense and also about what I was capable of.

When I began college, I was just starting to become politically engaged. But my public policy classes at Princeton helped show me that I wanted to work in disability policy, and my extracurriculars, especially serving as Associate News Editor for The Daily Princetonian, gave me the writing and leadership skills I use every day in my professional life.

I also made incredible friends who accepted and included me. Due to the efforts of myself and other students with disabilities in the student government’s Disability Task Force, which I founded, there have been substantive improvements to campus accessibility. I have continued my advocacy for more accessibility and inclusion through my position on the university’s Board of Trustees. It means so much to me that my peers elected me to this role because they believed in my ability to speak up for the needs of students with and without disabilities.

Starting a career

Because of my academic explorations of disability and several meaningful disability policy internships, I successfully started my career in disability policy.

Naomi in Washington, DC

I moved to Washington, DC, after college, where I worked at Mathematica, a public policy research organization. Then I worked in the Administration for Community Living in the Department of Health and Human Services, which serves people with disabilities and older adults. There, I managed grants that support disabled people and wrote material about the agency’s programs.

I loved living in DC, which is an extremely accessible city. I lived in my very first apartment, mastered the public transit system, and made so many memories with old and new friends. After the 2024 election, government work felt unstable to me, and I decided it was time to apply to graduate school. I thought an advanced degree would give me more skills and tools to learn about my interests and progress in my career.

Back to school

This fall, I started pursuing a master’s in Media Advocacy at Northeastern University in Boston. This unique program is at the intersection of journalism, public policy, and law, and it perfectly aligns with my interest in using media to generate social change.

Leaving DC was a difficult choice, but if I learned anything from my time at Princeton, it was that taking risks in pursuit of education leads to unexpected opportunities. While pursuing my degree, I’m also working in communications for the American Association of People with Disabilities. I’m glad I can directly apply my learning to my job and do my best to advance the organization’s mission at a time when advocating for disability rights is so important.

I hope anyone else who loves to learn does not let accessibility barriers prevent them from following their educational dreams. Even if it takes some effort to overcome these barriers, higher education is an incredible experience.

Naomi Hess, 25, is a graduate student at Northeastern University in Boston and the Editorial Manager at the American Association of People with Disabilities. She is happy to be a resource to others with disabilities who are interested in pursuing higher education. Find her online at naomihess17.substack.com and on Instagram at @naomihess17.

The post A Lifetime of Learning: From College to a Career in Disability Advocacy appeared first on Quest | Muscular Dystrophy Association.

Jody Ellis

Fortunately, the new year is the perfect time to reassess your financial goals and start with a fresh plan. Here, MDA community members and experts offer their tips to avoid debt, shop smarter, and plan for a new year filled with less stress and more independence.

1. Create your budgeting plan

“Identify how much money is coming in and from what sources, whether it be benefits or earned income, as well as your monthly, quarterly, and annual expenses,” says Jody Ellis, Director of the ABLE National Resource Center, managed by National Disability Institute. “Once you know your financial situation, you can begin to identify some potential action steps.”

Tina Vassar

Tina Vassar of North Carolina, who lives with myasthenia gravis (MG), takes this approach. In her budget, she includes income and expenses like insurance premiums, travel, gifts, clothing, food, and a “nest egg” for emergencies. “If you find a deficit, look at ways you can reduce the budget monthly,” she says.

Creating a monthly spreadsheet to track expenses or using a personal budgeting app can make it easier to monitor and follow your spending plan.

2. Open an ABLE account

Vanessa O’Connell

Achieving a Better Life Experience (ABLE) accounts are savings and investment accounts designed specifically for people with disabilities.

“What makes an ABLE account so special is that funds are generally not counted as assets for public benefit programs, such as Medicaid or Supplemental Security Income (SSI), and the investment growth is tax-free,” Jody says.

The 2025 annual contribution limit is $19,000, allowing users to have access to funds well beyond the Medicaid asset limit of $2,000. Funds can be used for expenses like housing, healthcare, education, and transportation.

Currently, a person is eligible for an ABLE account if their disability began before the age of 26. However, on Jan. 1, 2026, eligibility will expand to anyone whose disability began before age 46. This will expand access to 6 million more Americans.

3. Save on essentials

Allyson Pack-Adair

Rising costs can make it seem difficult to save on necessities like food. Vanessa O’Connell of Florida, who lives with Pompe disease, finds her local farmers’ market to be an affordable option. “It provides fresh fruit and vegetables quite reasonably priced,” she says. “It’s an organic, local farm, so the inventory changes with the season.”

While some farmers’ markets have a reputation for being expensive, there are ways to save, such as comparison shopping between vendors for the best prices or visiting at the end of the day for deals on food they need to sell. Many farmers’ markets also accept the Supplemental Nutrition Assistance Program (SNAP).

The DIY approach can also save you money. “I hand-make my own self-care items and plant produce in my garden,” says Allyson Pack-Adair of Arizona, who lives with mitochondrial myopathy.

4. Curb impulse buying

Sophia Dipasupil

Sophia Dipasupil of Virginia, who lives with juvenile dermatomyositis, knows to stop shopping before buyer’s remorse sets in. “When I see something I want but maybe don’t need, I put it down and walk away. If I still want it after a while, I will go back and buy it,” she says. “Most of the time, I don’t end up buying the item.”

Jose Flores of Florida, who lives with spinal muscular atrophy (SMA), follows this simple rule: “Take a 48- to 72-hour pause before any nonessential buy. Most ‘wants’ fade; savings don’t,” he says.

Tina suggests making a shopping list and sticking to it, whether online or in person.

5. Research big purchases

Jose Flores

Medical equipment, mobility aids, and home modifications can be expensive. Before making one of these purchases, find out if they could be covered through your healthcare benefits or a state or community agency.

Lyza Weisman, a law student from Colorado living with SMA, says her $126,000 accessible van modifications were funded through her state’s vocational rehabilitation program. These programs are designed to help people with disabilities find and retain jobs and can provide assistance for a variety of expenses, such as education and training, assistive technology, home and vehicle modifications, and professional coaching.

For other big purchases, consider refurbished options or shop around for deals. Blythe Collins from Michigan, who lives with limb-girdle muscular dystrophy (LGMD), shares that her dad bought her a travel electric wheelchair on Amazon Prime Day for 30% off.

Lyza Weisman

6. Trim your bills

Monthly bills can be just as draining as big-ticket items, but many can be reduced with a little effort. Tina suggests contacting phone and internet providers to negotiate a lower rate. “Check for subscriptions you may have forgotten about or don’t use and cancel them,” she adds.

To address healthcare costs, comparing pharmacy prices is advantageous. Tina also recommends checking with insurance providers and your local government to see if they offer reduced rates for disabilities for insurance and taxes. You can also contact healthcare providers’ billing offices to ask if they have financial assistance programs you might qualify for.

Blythe Collins

7. Avoid or reduce debt

Staying in the black is one of the best long-term ways to save money. Jose has developed a system around his credit card use. “I use credit cards like charge cards, and pay them in full every month,” he says.

If you need help reducing existing debt, resources like National Disability Institute’s Financial Resilience Center can help.

Maggie Callahan is a frequent contributor to Quest Media.

The post New Year, New Financial Plan: Tips to Get Your Budget Back On Track appeared first on Quest | Muscular Dystrophy Association.

Christopher Grunseich, MD

SBMA is sometimes called Kennedy’s disease, named after William Kennedy, the physician who first described the disease in 1968. SBMA usually progresses slowly, typically over decades.

Christopher Grunseich, MD, a Lasker Clinical Research Scholar in the Inherited Neuromuscular Diseases Unit at the National Institutes of Health, sheds light on the latest in SBMA research.

Who is affected by SBMA?

It typically takes effect in a person’s mid-40s and progresses slowly, meaning it can go unnoticed for a long time. It’s caused by a genetic mutation on the X chromosome, so it primarily affects males; females with the genetic mutation are carriers for the condition. If females are symptomatic, they can have cramping and tremors, but they usually don’t manifest with weakness.

How is SBMA typically diagnosed?

The key early features of the disease are muscle loss, weakness, and/or cramping, which will usually trigger an evaluation by a neurologist. They may perform a creatine kinase (CK) test, and CK can be elevated about five to six times above normal levels. That is a reflection of the muscle breakdown. Family history can also be helpful in diagnosis. Doctors typically recommend genetic testing to confirm a diagnosis. Genetic testing can be conducted based on a family history, but it should always be done in consultation with a genetic counselor to discuss the benefits and risks of genetic testing.

There are other signs and symptoms, including androgen insensitivity, which means the body does not respond to male hormones. This could present as breast enlargement, testicular atrophy, and infertility, along with other metabolic symptoms, such as insulin resistance. In our lab testing, we’ve also found that between 80% to 90% of SBMA patients can have nonalcoholic fatty liver disease.

What really sets this disease apart from other related conditions is the sensory neuropathy. Patients can experience a loss of sensation and feel numbness. Typically, the fingertips or feet are among the first parts of the body to lose sensation.

What does treatment look like?

Right now, we don’t have any treatments that impact the progression of the disease. What works best is a multidisciplinary approach, which typically involves:

• A neurologist to oversee care
• Physical therapy to identify how patients may benefit from strength exercises or assistive devices to improve their gait and reduce the risk of falls
• Occupational therapy to improve hand and arm function
• Speech therapy, including exercises for the bulbar muscles, to reduce the risk of choking and improve speech
• Sleep studies to detect sleep apnea
• An endocrinologist to monitor for insulin resistance and liver disease

Are there any promising treatments in development?

I’m currently engaged in a phase 1/2 study of a drug called AJ 201. The genetic mutation that causes SBMA leads to muscle and neuron degeneration through mechanisms involving cellular toxicity, oxidative stress, and neuroinflammation. AJ201 is a unique drug compound that has shown potential to reduce that toxicity. Some encouraging preliminary results indicate that AJ201 may reduce CK levels and improve muscle function. With these supportive findings, we hope to advance to a phase 3 study in 2026. There are two other drugs in phase 2 trials, NIDO-361 and clenbuterol, which also look encouraging.

With these trials, it’d be terrific to see stabilization of muscle function and less muscle degeneration. If we could stabilize the muscle membrane and prevent the continued atrophy and fatty replacement of the muscle, I think that would provide a meaningful impact on the lives of people with SBMA.

What else should patients and families know?

The Kennedy’s Disease Association has set up a registry in partnership with Coordination of Rare Disease at Sanford (CORDS). The registry enables research teams designing studies to identify patients, determine potential interest, and contact patients if they are eligible. It doesn’t automatically sign you up for research. It simply provides a venue for the research teams to inform interested patients that these studies are taking place. I would suggest that any patient who’s interested in participating in research studies or clinical trials consider joining the registry.

Matt Schur is a Chicago-based writer and editor who frequently covers health topics.

The post Understanding Spinal-Bulbar Muscular Atrophy appeared first on Quest | Muscular Dystrophy Association.

The 39-year-old, West Virginia-based attorney attributes his success to recognizing his own capabilities, working hard to reach his potential, connecting with others, and asking for accommodations.

Eric and friends at a WVU basketball game

Early life lessons

Eric was diagnosed with spinal muscular atrophy (SMA) at 18 months old. He began using a manual wheelchair when he was 3 years old, switching to a power wheelchair before second grade. Throughout his early schooling, he rode an accessible school bus, had access to a bathroom where he could transfer himself, and used a table instead of a school desk to accommodate his wheelchair. He excelled academically and socially and learned how to advocate for himself.

“I realized early that I had the natural ability to appeal to others and connect with them. Whether it was a teacher or a classmate, I knew if I wanted to be independent, I needed to not only accept help but also give back to people like they gave to me,” Eric recalls.

Being involved in the development and execution of his Individualized Education Program (IEP) also taught Eric a valuable lesson about asking for what he needed to excel. He credits his public school system with actively meeting his needs and creating an inclusive environment.

Chasing the college dream

Eric set out for college to find a profession he could thrive in and achieve financial independence. First, he researched financial aid programs, resources, accommodations, and accessibility at several universities. He recommends that anyone interested in college reach out to schools’ accessibility offices to learn about the support and accommodations they offer for students with disabilities.

Eric attended West Virginia University (WVU), where he earned a bachelor’s degree in journalism, a Master of Business Administration, and a law degree. Eric believes that a large part of his success stems from understanding his own worth.

“I think that one of the hardest things for people like me, who live with a disability, is struggling with this defeatist idea that your worth won’t be recognized. Whether it is communication or facing barriers or losing out on an opportunity, that mindset and those challenges can be very hard to overcome,” he says. “The way to face those pitfalls or mental blocks is by finding what you can do well and pursuing opportunities through that.”

Leaning into work accommodations

Eric recalls a conversation with his boss while interning at Hendrickson and Long, the law firm where he now works. Eric’s boss overheard him turn down a coworker’s offer to help with a task and told Eric, “Nine out of 10 times, someone offering to help you wants to be part of your life and sees value in you.” Eric realized that accepting help at work allows someone to be part of his experience and fortify his talents.

Now entering his 12th year as a litigator, Eric splits his time working from home and the office, sometimes attending courtroom hearings by telephone or Zoom when judges allow it. Eric is upfront with new clients that his physical limitations will not compromise their representation.

“Ask for help if you need it,” he says. “Ask your office or state programs for assistive technology. Ask your employer for accessibility accommodations. As long as you approach it in a way that shows these things will help you contribute, and by doing so, you are going to add intrinsic and external value to where you work, most employers are eager to oblige.”

Living independently

Eric lives in a condominium where he can commute by wheelchair a couple of blocks to his office and the courthouse. He also has a modified van that caregivers drive.

Eric balances earning an income and remaining eligible for benefits. He has caregivers through his state’s Medicaid waiver program and private pay. He is also enrolled in a work incentive program through Medicaid. He closely monitors his income, assets, and spending each month to maintain eligibility while working.

“My position is not salaried, so I work as much as I need to each month and monitor my income to stay under the amount needed to qualify for my benefits,” he says. “If I have a really busy month, then I spend money on something I need that qualifies as a write-off. I set up my own special needs trust. While I don’t have full access to that money, I can request it for qualified spending, and I can deposit money into it to stay within requirements.”

Eric enjoys advising others on how to navigate programs that allow people with disabilities to maintain independence and achieve success. Finding value in helping others and accepting help when needed has propelled him on his quest for success.

To others on that same quest, he says: “There are avenues to get where you want to go. There is always a way to open the door for yourself. It may not always look exactly how you want it to look. You may need some help, but you can do it.”

Rebecca Hume is a Senior Specialist and Writer for Quest Media.

The post From Classroom to Courtroom: How Eric Arnold Navigated Accessibility in His Education and Career appeared first on Quest | Muscular Dystrophy Association.

Immunotherapy Study Recruiting

Coya Therapeutics has launched the phase 2 ALSTARS trial to evaluate the safety and efficacy of COYA 302, an investigational treatment for adults with ALS. This large trial will recruit an estimated 120 people with ALS and be conducted at approximately 25 sites in the US and Canada.

COYA 302 combines two immunotherapies: low-dose interleukin-2 (LD IL-2) and DRL_AB (similar to abatacept, used to treat rheumatoid arthritis). This combination therapy is intended to enhance the function of regulatory T cells (white blood cells that help control the immune system’s response) and suppress inflammation. The study will assess whether this changes the progression of ALS.

The study begins with a randomized, double-blind period in which participants will be randomly assigned to receive COYA 302 or a placebo (an inactive substance) for 24 weeks. Those who complete this part of the study may be eligible to participate in an additional 24-week active extension phase. COYA 302 is administered via subcutaneous (under the skin) injection.

For more information, visit ClinicalTrials.gov and enter NCT07161999 in the “Other terms” search box.

Drug Cleared for Expanded Access

The US Food and Drug Administration (FDA) has cleared NKGen Biotech Inc. to launch an Expanded Access Program (EAP) to make its experimental therapy troculeucel available outside of clinical trials to patients with neurodegenerative diseases, including ALS.

NKGen has an ongoing phase 2a clinical trial studying troculeucel as a treatment for Alzheimer’s disease. However, two phase 1 studies demonstrated that troculeucel, administered via intravenous (into the vein) infusion, crosses the blood-brain barrier and reduces signs of neuroinflammation, which may be beneficial for other neurodegenerative diseases. The FDA authorization will allow NKGen to offer expanded access to troculeucel to up to 20 patients.

To learn more about NKGen’s Expanded Access Program, visit nkgenbiotech.com/clinical-trials.

Duchenne muscular dystrophy (DMD)

Participants Needed for Gene Therapy Trial

Regenxbio Inc. is enrolling boys ages 4-11 living with DMD to participate in a phase 3 clinical trial to evaluate the safety, tolerability, and efficacy of the investigational gene therapy RGX-202 to treat DMD.

In DMD, a gene mutation in the dystrophin gene prevents cells from making enough working dystrophin protein. Dystrophin protein is needed for muscles to function and repair themselves. RGX-202 is a single-dose gene therapy designed to introduce a shortened dystrophin protein (microdystrophin) into the body, potentially slowing the loss of muscle function.

This study, known as AFFINITY DUCHENNE, is a multicenter, open-label study. The study will last approximately two years and involve a one-time intravenous (in the vein) infusion and approximately 26 clinic visits to evaluate the effects of RGX-202 by various tests. At the end of two years, participants will be encouraged to enroll in a three-year, long-term follow-up study to monitor the participants’ health and the effects of RGX-202.

Travel support is available for eligible participants and their caregivers.

To learn more about the study, including locations and inclusion and exclusion criteria, visit RegenxBioDMDTrials.com, or go to ClinicalTrials.gov and enter NCT05693142 in the “Other terms” search box. To inquire about participation, email [email protected].

Gene Therapy Study Enrolling Boys

Researchers at Solid Biosciences are seeking boys with DMD to participate in a phase 1/2 clinical trial, called INSPIRE DUCHENNE. This study will evaluate the safety and efficacy of the investigational gene therapy SGT-003, designed to introduce a microdystrophin protein to replace the dystrophin protein that is missing in DMD.

This is a multicenter, open-label study lasting five years for each participant. The drug will be administered as a single intravenous (in the vein) infusion. For the first 30 days following treatment, participants will have frequent visits to the hospital for check-ups and bloodwork to monitor the safety and effects of SGT-003. Visits will become less frequent over the following years of the study.

Researchers are currently enrolling boys ages 0-4 who are nonambulatory or ambulatory, and boys ages 4-12 who are ambulatory. They plan to add groups of boys ages 12-18, ambulatory and nonambulatory, at a later date, but are not yet enrolling them.

Travel support is available for eligible participants and their caregivers.

To learn more about the study, including locations and inclusion and exclusion criteria, visit ClinicalTrials.gov and enter NCT06138639 in the “Other terms” search box. To inquire about participation, email [email protected].

Facioscapulohumeral muscular dystrophy (FSHD)

Drug Targets Root Cause of FSHD

Epicrispr Biotechnologies is enrolling adults with FSHD in a phase 1/2 clinical trial for EPI-321, an investigational therapy designed to address the root cause of the disease.

In FSHD, genetic mutations result in abnormal activation of the DUX4 gene, leading to progressive muscle degeneration, especially in the face, shoulders, and arms. EPI-321 is a gene-modifying therapy designed to silence the abnormal expression of the DUX4 gene in skeletal muscle. The drug is administered via a one-time intravenous (into the vein) infusion.

The trial is expected to enroll nine people with FSHD, ages 18-75. The study’s main goal is to evaluate the safety and tolerability of the experimental therapy. Participants will visit a clinic regularly for tests and checkups for about five years after receiving the therapy.

According to Epicrispr, in preclinical studies, EPI-321 demonstrated robust suppression of DUX4 expression and protection of muscle tissue. The US Food and Drug Administration (FDA) awarded the drug Fast Track, Rare Pediatric Disease, and Orphan Drug designations. These designations incentivize the development of treatments for rare diseases.

For more information, visit ClinicalTrials.gov and enter NCT06907875 in the “Other terms” search box.

Myasthenia gravis (MG)

Positive Results for Self-Administered Therapy

Gefurulimab, an experimental self-administered injection therapy, performed better than a placebo at easing symptoms of generalized MG (gMG) and gives patients more control over their therapy, according to Alexion, AstraZeneca Rare Disease.

The drugmaker released positive high-level results from a global, randomized, double-blind, placebo-controlled phase 3 trial in adults with anti-acetylcholine receptor (AChR) antibody-positive gMG. This is the most common type of MG. The trial involved more than 250 people with gMG across 20 countries.

In MG, the immune system attacks the neuromuscular junction, blocking signals from nerves to muscles. Gefurulimab is a complement C5 inhibitor, which means it works by binding to the C5 protein in the immune system and blocking it from targeting the body’s own healthy cells.

Two other C5-blocking therapies developed by Alexion — ravulizumab-cwvz (Ultomiris) and eculizumab (Soliris) — are already approved for patients with AChR antibody-positive gMG. But while Ultomiris and Soliris are given by intravenous (into the vein) infusions that must be administered by a healthcare provider, gefurulimab is given by subcutaneous (under the skin) injection, and can be self-administered by patients or given by caregivers.

To learn more about the study, visit ClinicalTrials.gov and enter NCT05556096 in the “Other terms” search box.

Myotonic dystrophy (DM)

Gene Therapy Trial Enrolling

Researchers are enrolling patients in a phase 1/2 clinical trial evaluating the safety, tolerability, and efficacy of SAR446268, an experimental gene therapy for DM type 1 (DM1). The open-label, multicenter study, known as BrAAVe, is sponsored by Sanofi.

DM1 is caused by abnormal DNA expansion within the DMPK gene, which leads to weakness in voluntary muscles. SAR446268 is designed to reduce levels of abnormally long DMPK messenger RNA (mRNA) in muscle cells, improving muscle function.

The trial is expected to enroll approximately 32 people with DM1, ages 10-50, at sites in Florida, New York, and Argentina. It will begin with a dose escalation phase, during which participants will receive a single infusion of SAR446268 at one of several doses. Based on findings from the first phase, a dose will be identified for the dose expansion phase of the study.

Each participant will be involved with the study for about two years, including screening before and follow-up after the drug infusion.

To learn more about the study, including inclusion and exclusion criteria, visit ClinicalTrials.gov and enter NCT06844214 in the “Other terms” search box.

Pompe disease

Study Compares LOPD Therapies

Top-line results from a phase 3 clinical trial comparing alglucosidase alfa (Lumizyme) to avalglucosidase alfa (Nexviazyme) showed that Nexviazyme outperformed Lumizyme at improving lung function in adults with late-onset Pompe disease (LOPD).

Lumizyme is approved by the US Food and Drug Administration (FDA) for treatment of early-onset (infantile) and late-onset Pompe disease in all ages. Nexviazyme is approved by the FDA for treatment of LOPD for ages 1 year and older. Both Lumizyme and Nexviazyme are enzyme replacement therapies (ERT) that contain a lab-made version of acid alpha-glucosidase (GAA), the enzyme missing or defective in Pompe disease. Nexviazyme is designed to enhance the delivery of GAA to muscle cells, which they need to function properly.

The study found that adults with LOPD who switched from Lumizyme to Nexviazyme improved in measures of lung volume and airflow, and these improvements persisted for at least two years after making the switch. The study was funded by Sanofi, which markets both therapies.

To read the study results, visit onlinelibrary.wiley.com/doi/10.1002/jmd2.70033.

Clinical Trial Terms to Know

Double-blind: Neither researchers nor participants know which participants are taking the drug or placebo.

Multiarm: Comparing several experimental treatments against a common control group within a single study.

Multicenter: The trial is completed at more than one site.

Open-label: Participants know what treatment they are receiving.

Placebo-controlled: Some participants receive the treatment being tested and some receive a placebo that looks like the real treatment but has no active ingredients.

Randomized: Participants are randomly assigned to groups taking the drug or placebo.

The post Progress Now: Immunotherapy Study Recruiting, Drug Cleared for Expanded Access, and More appeared first on Quest | Muscular Dystrophy Association.

Carrie Miceli, PhD, and Stanley Nelson, MD, with their son Dylan (center)

Neither of them took this choice lightly. They made their decisions after learning as much as they could about their own diagnosis and the gene therapy they were considering, as well as discussing the risks and benefits — and their own personal goals — with their parents and their healthcare teams. Ultimately, they both feel they made the right decision.

That is the essence of gene therapy decision-making. It is a personal decision that each individual and family must make by weighing all the relevant factors and making the choice that is best for them.

New therapy opportunities on the horizon

Right now, not everyone in the neuromuscular disease community has access to gene therapy. The US Food and Drug Administration (FDA) has approved two gene therapies for neuromuscular diseases: Zolgensma® for spinal muscular atrophy (SMA) in 2019 and Elevidys® for DMD in 2023.

However, there is a robust research pipeline, and initiatives like MDA’s Kickstart for Ultra-Rare Neuromuscular Diseases are helping to push gene therapy development forward. Gene therapies are being explored in clinical trials for amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), congenital myasthenic syndromes (CMS), Friedreich ataxia (FRDA or FA), limb-girdle muscular dystrophy (LGMD), Pompe disease, and more.

Already, many members of the neuromuscular community have had the opportunity to receive gene therapies through clinical trials, and more gene therapies are expected to be approved in the coming years.

Michelle Werner

It’s a good idea to be prepared for new opportunities that may arise. Dylan and Caffrey both have parents in biomedical fields who were eagerly following the development of gene therapies for DMD.

Dylan’s parents, Carrie Miceli, PhD, and Stanley Nelson, MD, are professors and researchers at the University of California, Los Angeles (UCLA). They started the Center for Duchenne Muscular Dystrophy at UCLA after Dylan was diagnosed. When they learned that Sarepta Therapeutics was recruiting nonambulatory (unable to walk) boys and men with DMD for a gene therapy clinical trial, Dylan enrolled. In 2021, at age 20, he received the experimental gene therapy that became Elevidys.

Caffrey’s mother, Michelle Werner, is the CEO of Alltrna, a biotechnology company. “After Caffrey was diagnosed, we were very eager to participate in clinical trials, especially for gene therapies, but he was not eligible for any of the trials that were underway,” she says.

Michelle and her husband, William Lester, paid close attention to the news after the FDA initially approved Elevidys for boys ages 4 and 5. Caffrey was 14 when the FDA expanded the approval to ages 4 and up in 2024. “That’s when we started to get a lot more serious in terms of considering it as an approach for Caffrey,” Michelle says.

Benefits of gene therapy

Gene therapies aim to treat the root cause of genetic diseases by replacing a mutated gene with a working gene, repairing a flawed gene, or altering how a gene is controlled.

Zolgensma and Elevidys are both gene replacement therapies. They work by delivering a functional gene into the body using an adeno-associated virus (AAV). The AAV is not harmful, but it can enter cells to deliver a gene that provides new instructions to make a needed protein.

“The goal of gene replacement therapy is to restore the missing or dysfunctional gene, allowing for protein production with the aim to lessen or slow disease progression,” says Diana Bharucha-Goebel, MD, Medical Director of the Gene Therapy Center of Excellence at Nationwide Children’s Hospital.

For some neuromuscular diseases, the best approach might not be to add a working gene but to fix a flawed gene, increase the expression of a gene, or “turn off” an abnormally active gene. Promising gene therapy methods being developed include gene editing, where a targeted section of DNA in the mutated gene is deleted or replaced, and RNA-based gene therapies, which target genetic material in RNA to modify how proteins are made. Therapies using these methods are in preclinical studies and clinical trials.

Diana Bharucha-Goebel, MD

Most gene therapies are designed as one-time treatments and are intended to lead to long-term, lasting improvements in function and overall health. However, they will not restore muscle or nerve cells that are already lost to disease progression.

“To maximize the benefit, time to treatment is important,” Dr. Bharucha-Goebel says.

For example, with SMA, administering Zolgensma early in infancy has the potential to stop damage before it occurs. With Elevidys for DMD, younger, ambulatory (able to walk) patient groups have experienced the most benefits in clinical trials.

“We’re at an exciting point where we’re trying to find strategies that work for different disease groups, depending on the type of genetic change, the size of the gene, and what cells in the body you’re targeting,” Dr. Bharucha-Goebel says. “The successes and knowledge learned from approved and previously studied therapies will hopefully pave the way for ongoing exploration for gene replacement therapies for other, more rare neuromuscular conditions where there is still great unmet need.”

Risks of gene therapy

For all the promise of gene therapies, there are real risks. Dylan’s and Caffrey’s parents were clear-eyed about this.

Gene replacement therapies using AAVs cause an immune response. Even though the virus is harmless, due to the large dose required, the body responds by activating different pathways of the immune system.

There is potentially more risk if the therapy induces the body to produce a protein it has not seen before. “The body may react by attacking the new protein, seeing it as foreign,” Dr. Bharucha-Goebel says.

Another serious concern is liver injury, a common side effect of AAV-based gene therapies. In July, Sarepta paused dosing of Elevidys for nonambulatory patients after two deaths from acute liver failure were reported. Researchers are continuing to study different methods to deliver large doses of AAV-based gene therapies safely.

While we will continue to learn more about commonly observed side effects, it is not always possible to predict the type or severity of a response to gene therapy in an individual. Unexpected and severe side effects can occur following gene therapy.

While extreme events are uncommon, they reinforce the need for caution before and after gene replacement therapy, including safety monitoring.

“We are very closely communicating with our families in the hours, days, and weeks after gene transfer and want to know about any changes in the child and how they appear, their energy level, or if they’re seeming in any way unwell,” Dr. Bharucha-Goebel says. Monitoring often continues for months after gene therapy administration.

Redosing not yet possible

Another concern is that, at this time, AAV-based gene therapies can only be given once.

“I describe it as the opportunity cost that comes with the decision,” Michelle says. “With any AAV-based therapy, you’re likely going to be able to get one in your lifetime, and then when you develop antibodies, you’re unlikely to ever be able to get another.”

That means that if an opportunity comes around to take a new approved gene therapy or enter a clinical trial for a potentially better approach, someone who has already received an AAV-based gene therapy would not be eligible.

However, Dr. Nelson points out that living with a neuromuscular disease carries risks, too. “There’s a risk every year of losing skills. With DMD, there’s a risk of death every year, and that has to be the counterweight to the risks of the actual therapy,” he says.

At 20, Dylan was not walking and was in danger of losing more functions, such as feeding himself. This was a big part of the family’s decision for Dylan to receive the gene therapy.

Factors to consider

Every individual’s and family’s calculus for weighing risks against benefits is different.

“The decision is never one-size-fits-all,” Dr. Bharucha-Goebel says. “Each person will have unique circumstances around their baseline laboratory findings, their clinical status, their genetic variant, as well as personal considerations around their current level of function, hopes or goals as related to a therapeutic approach, and the risks they are willing to consider.”

Considering personal goals and priorities is an essential part of the decision-making process. Children who are old enough to understand their diagnosis should be involved in setting those priorities.

“I’d say we were really thoughtful about what is going to be important for Caffrey, and what we were trying to achieve from any type of therapy for him,” Michelle says. She points out that next-generation DMD therapies currently in clinical trials may have advantages, but they are likely years away from being available.

Michelle recounts a pivotal conversation she and William had with their son about the opportunity to take Elevidys: “We told Caffrey, ‘If we go for it, we hope that it might keep you walking for another few years. If we wait, maybe another gene therapy will be available. You will not be walking by then, but maybe that gene therapy will be able to help your lungs and your heart.’ And he said, ‘It’s much more important to live than to walk.’ So, we followed his lead on this decision.”

In addition to personal goals, it’s important to weigh your family’s ability to commit to the gene therapy protocol. Receiving gene therapy is a multi-step process that involves laboratory tests before the administration, going to a clinic for the therapy infusion, and follow-up monitoring and clinic visits for three months or more afterward. Participating in a clinical trial also requires a commitment that may last months, or even years.

While these requirements are time-consuming, it’s important to know that they are there for the patient’s safety and the advancement of science, according to Dr. Miceli. “That follow-up will inform the field, and that’s how we’re going to make these therapies better,” she says.

It’s also important to discuss all these factors, and your goals and priorities, with your care team. They can answer questions and direct you to reliable information and research that will help you make an informed decision.

“Your MDA Care Center or neuromuscular care team should be able to help guide some of that discussion, which should involve an in-depth review of the risks and benefits, and also the alternatives,” Dr. Bharucha-Goebel says. “It’s never the same discussion twice. Each discussion, or series of discussions, must be tailored to that particular family and individual.”

Support for your decision-making

Before deciding on gene therapy, it’s critical to have a support system around you.

MDA offers several resources to help you make a decision about gene therapy and get the support you need. The Gene Therapy Support Network guides you to educational resources and offers one-on-one conversations with MDA Gene Therapy Support Specialists. The Access to Gene Therapy Workshop is a free online tutorial covering gene therapy developments, insurance coverage, and more. MDA’s Resource Center (833-ASK-MDA1 or [email protected]) is a one-stop shop for information to help you navigate life with a neuromuscular disease, including access to therapies.

Your care team is an important part of your support system, as are patient advocacy organizations like MDA and parent groups.

“I met a number of different parents, some of whom participated in gene therapy programs, some of whom were taking different approaches for their kids, but they really understood the lay of the land more than I did in those early months,” Michelle recalls.

Above all, Michelle emphasizes the personal nature of decision-making. “It’s not a straightforward choice,” she says. “It’s an agonizing decision, but there is no wrong or right answer.”

Amy Bernstein is a writer and editor for Quest Media.

Gene Therapy Resources

MDA offers several resources to help individuals and families navigate the evolving landscape of gene therapy:

• Access to Gene Therapy Workshop. Take this online workshop to learn about common considerations before, during, and after gene therapy treatment.
• Gene Therapy Community Support Group. Monthly online meetings welcome parents or guardians of kids eligible for or already treated with an FDA-approved gene therapy.
• Gene Therapy Support Network. Find resources and learn how to contact a Gene Therapy Support Specialist.
• Print-Ready Education Materials. Download fact sheets, checklists, and other materials on gene therapy topics.

The post Say Yes to Gene Therapy? Factors to Consider When Gene Therapy Is an Option appeared first on Quest | Muscular Dystrophy Association.

Jody Ellis

“Financial planning can be stressful for anyone, but when you add a neuromuscular disease to the equation, it can feel especially daunting,” says Marissa Lozano, MDA’s Director of Community Education.

Fortunately, with the right knowledge, planning tools, and professional guidance, people living with neuromuscular diseases and their families can improve their financial security and peace of mind, says Jody Ellis, Director of the ABLE National Resource Center, managed by National Disability Institute.

“People with disabilities deserve financial stability and empowerment,” she says. “They need to know that they are not alone and there are services and programs that can help.”

Whether you have $10 in the bank or $10 million, financial planning is accessible to you.

Build your financial foundation

Creating a solid financial plan involves education and guidance, but the best place to start is by evaluating your current situation.

“You need to begin by assessing all accounts and policies you have, who is involved in your finances, and who might be involved in the future, such as relatives who might leave you an inheritance,” says Bruce Sham, CLF, an advanced special care planner and the founder of Special Journey Solutions, a financial planning firm specializing in supporting families with special needs individuals in Pennsylvania.

When compiling this list, include information such as:

• Income sources: wages, Social Security Disability Insurance (SSDI), Supplemental Security Income (SSI), or benefits programs
• Assets and accounts: checking, savings, ABLE accounts, retirement accounts, 529 college savings programs, trusts, and any other assets
• Insurance policies: life, health, and long-term care coverage
• Monthly expenses: medications, therapies, housing, utilities, food, personal care products, and other recurring costs
• Future considerations: inheritances, guardianship arrangements, or special needs trust planning, as well as beneficiary information for any of your accounts and policies

Find affordable financial education

Next, take advantage of the many free and affordable financial education resources available in person and online.

Marissa Lozano

For in-person learning, community colleges, libraries, local government agencies, and nonprofits may offer free or low-cost finance classes that cover topics such as credit, debt management, and household economics.

MDA’s Community Education programs are an essential resource for individuals in the disability community seeking to gain a deeper understanding of benefits, budgeting, and planning for the future.

“Whether you are a parent of a young child with a neuromuscular disease, a young adult with a neuromuscular disease going to college, or a retiree who was just diagnosed, we have financial planning information tailored for your stage in life,” Marissa says. “These resources are designed to help you feel confident and empowered to pursue your goals one step at a time.”

MDA’s offerings include self-paced Access Workshops, printable checklists, and on-demand webinars with practical steps to understanding anything from securing a job to insurance to the difference between SSI and SSDI.

“Our educational resources take out the guesswork and allow you to see a clear path forward to your financial goals,” she says.

Other organizations also provide valuable resources online, including:

• National Disability Institute’s Financial Resilience Center provides regularly updated resources on topics such as credit, taxes, identity theft, and more.
• The Consumer Financial Protection Bureau (CFPB) offers free consumer financial education resources through the Your Money, Your Goals toolkit and its companion guide Focus on People with Disabilities.
• MyMoney.gov, offered through the US Financial Literacy and Education Commission, provides financial tools like calculators, budgeting worksheets, and checklists.
• Khan Academy offers a free online course in financial literacy.

Enlist a financial professional 

Education is essential, but it doesn’t replace expert advice. For parents navigating finances after a child’s neuromuscular diagnosis — or adults planning for the future after being diagnosed with a neuromuscular condition — working with a financial advisor or special needs expert can ease the burden and reveal resources they might otherwise miss.

“It is so important to work with someone well-versed in special needs and disabilities,” Bruce says. Illustrating his point, he tells the story of a family he worked with: “The man had ALS, and I was able to inform him that the group life insurance he pays into — a couple bucks a month — accelerated access to $250,000 of his life insurance policy to help pay for care at home. He didn’t know that, and nobody offered to tell him about it.”

For law student Lyza Weisman, who lives with spinal muscular atrophy (SMA), working with a financial professional gave her the reassurance she needed. “I found my financial planner through my state’s vocational rehabilitation service in Colorado, and what I got from her was the reassurance that I wasn’t doing something wrong,” she explains. “When you’re managing Medicaid, SSI, an ABLE account, and a trust all at once, it gets so blurry and confusing. Just having someone confirm that I was crossing my T’s and dotting my I’s gave me peace of mind.”

Lyza Weisman

Plan for your future

No matter where you are in your neuromuscular disease journey, Bruce says it’s never too early or too late to begin financial planning.

Lyza, who plans to pursue a career in disability law, agrees. While the process can be daunting, achieving financial independence has given her the power to build the life she wants.

“It’s frustrating when you realize how many financial barriers are holding you back and keeping you from doing what you want to do,” she says. “But it is worth the fight. The more we push forward by learning and planning, the closer we get to financial freedom and the lives we want to live. And when we get there, the most important thing is to pay it forward and help others who are on the same path.”

Maggie Callahan is a frequent contributor to Quest Media.

Tips for Working with a Financial Professional

Who to work with?

Look for one of these types of professionals:

• Chartered special needs consultant (ChSNC®)
• Disability law attorney
• Special needs trust attorney
• Certified financial planner with expertise in disability benefits and experience working with individuals with disabilities

Where to find them?

These organizations and resources can help:

• MDA Resource Center staff members can provide one-on-one support for individuals and families looking for information and resources to help them navigate their disease journey. Contact the Resource Center at 833-ASK-MDA1 or [email protected].
• The American College of Financial Services has a professional directory that can help you locate a ChSNC®.
• Every state has a vocational rehabilitation (VR) agency that helps people with disabilities access education, employment support, and benefits. They may have suggestions for financial and legal professionals.
• Professional associations, like the Academy of Special Needs Planners, can connect families with attorneys, financial planners, and trust officers experienced in disability and special needs planning.
• Local Centers for Independent Living (CILs) or disability rights groups can help connect families with specialists in their area.

Is it affordable?

Working with a professional might sound intimidating and expensive, but it doesn’t have to be.

“Ask if they’ll offer a free consultation,” says Bruce Sham, CLF, an advanced special care planner. In some cases, the fee is contingent on results. “If we don’t get clients the benefits or back payments from sources like Social Security, then there’s no fee. If we do secure the benefits, they pay me once they receive the money,” he says.

Colorado law student Lyza Weisman’s state vocational rehabilitation program covered the cost of her financial planner. Check out your state’s benefits.

The post Financial Education and Planning Help You Take Charge of Your Financial Future appeared first on Quest | Muscular Dystrophy Association.

Areti Vassilopoulos, PhD

While being a caregiver is one of the most meaningful roles you can take on for your family member, it does come with challenges and risks to your own health.

Caregiving is physically demanding — lifting, transferring, bending, reaching — as well as emotionally and mentally taxing. Many caregivers experience injuries. They may also feel stress, anxiety, depression, or fatigue, says Areti Vassilopoulos, PhD, a pediatric health psychologist and assistant professor at the Yale School of Medicine.

Fortunately, most injuries are preventable with the right knowledge, habits, and tools, and there is support available for mental health needs.

Here are some practical tips to help you give care with confidence — and take care of yourself.

1. Know the most common caregiver injuries

Angela Escalante

Before you can truly prevent an injury, it’s helpful to understand what parts of your body are most at risk and why. Common caregiver injuries include:

• Back strains and sprains
• Shoulder and neck pain
• Wrist and hand injuries
• Knee pain

Most of these injuries result from repetitive strain, improper body mechanics, or lack of muscle support, according to Angela Escalante, an occupational therapist at the Barrow Neurological Institute. That’s why prevention involves more than just being careful — it’s also about building strength, using the right techniques, and employing assistive devices.

2. Master body mechanics

How you move your body matters. Angela recommends educating yourself on techniques for lifting and transferring, including:

• Bend your knees, not your back. Always lift using the muscles in your legs, keeping your back straight and your core engaged.
• Keep the person close to your body. The farther away their weight is, the more strain it places on your spine.
• Avoid twisting. Turn your whole body with your feet instead of rotating your torso.
• Use a wide stance. This helps distribute weight evenly to keep your balance.
• Ask for help or use assistive equipment. Don’t risk injury trying to do a difficult lift alone.

It’s always important to think about these techniques. It can be difficult to take the time to position yourself correctly when you’re in a hurry or feeling stressed, but doing so can prevent pain and injury, which is better for you and your loved one in the long run.

“When caregivers take care of their own bodies and protect themselves from injury, they are able to give their best care to their loved ones,” Angela says.

3. Strengthen your body

Doing a handful of simple exercises consistently can help strengthen and protect your muscles and joints from injury. Here are some exercises you can do at home, with little to no equipment.

Core strengthening

Your core (which consists of your abs and back) is your powerhouse — it stabilizes your body when lifting and moving and protects your back. Engage your core muscles by drawing your belly button in toward your spine. To strengthen your core, do one or more of these exercises:

Starting position for supine march and leg extensions

• Supine march. Lie on your back with your knees bent. Raise one foot off the ground at a time.
• Supine leg extension. Lie on your back with your knees bent. Straighten one knee and hold your leg a few inches off the ground. Bring it back to the starting position and repeat with your other leg.
• Plank. Begin on all fours with your arms directly under your shoulders. Extend your legs behind you and hold the position with your back straight.
• Bridge. Lie on your back with your knees bent. Raise your hips off the ground and lift your chest, keeping your core tight and head relaxed on the ground.

Back and shoulder strengthening

These are your primary lifting muscles. Try these exercises to strengthen your back and shoulders:

• Seated rows with dumbbells. Sit with a light- to medium-weight dumbbell in each hand. Lean your torso forward, keeping your back straight, and let your arms hang toward the floor. Pull the dumbbells up, bending your elbows and squeezing your shoulder blades together.
• Shoulder blade rolls/squeezes. Sit up straight and gently squeeze your shoulder blades together. Pause, then relax.
• Shoulder external rotations with a resistance band. Stand with your elbows bent to 90 degrees and your palms up, holding a resistance band in both hands. Slowly rotate your forearms out to the sides while pinching your shoulder blades together. Pause, then return to the starting position.

Leg strengthening

Using your legs for heavy lifting protects your back. These exercises strengthen the leg and glute muscles:

Squat position

• Squats or mini squats. Stand with your feet shoulder-width apart and your toes pointing forward. Keeping your back straight, bend your knees, lowering until they are at a 90-degree angle, then return to the starting position. For mini squats, rest your hands on a stable surface, such as a counter, and do not bend down as deeply.
• Clamshells. Lie on your side with your knees bent and hips stacked. Lift your top knee, keeping your feet together. Repeat on both sides.

Wrists and hands

Repetitive strain and poor positioning can lead to wrist and hand pain. To protect your wrists, keep them straight while completing tasks, and do these exercises to stretch and strengthen the muscles and connective tissues:

• Wrist circles. Start with your hands in loose fists. Circle your fists in one direction, then the other.
• Wrist stretches. Hold one arm out straight at shoulder height and bend your wrist backward so your fingers point up. Use the other hand to gently pull the fingers back until you feel a stretch in the forearm. Let go and bend the wrist forward so the fingers point down. Use the other hand to gently push on the back of the hand until you feel a stretch in the top of the arm. Switch arms and repeat.
  

  Wrist stretches

• Hand stretch. Make a fist and hold it for a few seconds. Open your fist and spread your fingers as far apart as you can. Repeat with the other hand.

Listen to your body

Pay attention to how your body feels while exercising and performing caregiving tasks. If you feel sudden, sharp pain, ongoing soreness that doesn’t improve, or numbness, weakness, or tingling in your limbs, speak with a healthcare provider immediately.

Early treatment can prevent a small issue from becoming a long-term problem.

4. Use the right tools

Assistive equipment can decrease your chance of injury by supporting the weight of moving and transferring your loved one and enhancing their own mobility.

Here are some products that can help.

Transfer aids

• Gait belt. Goes around the waist of the person being assisted to give the caregiver a secure hold to help steady or move them
  

  Product credit: Vive Gait Belt

• Transfer board or slide board. Helps move someone in a sitting position, such as from a bed to a wheelchair
  

  Product credit: DMI Transfer Board

• Transfer sheets. Reduce friction and help reposition someone in bed safely
  

  Product credit: Vive transfer sheet

• Floor lift (often called a Hoyer lift). Portable lift that can help pick up and move a person from a bed, toilet, bathtub, shower, or wheelchair
  

  Product credit: Bestcare floor lift

• Ceiling lift. Motorized lift that moves on built-in rails on the ceiling; often installed in bedrooms and bathrooms
  

  Product credit: Mackworth ceiling lift

Mobility support

• Bed rails and grab bars. Help prevent falls and increase independence for people with mobility issues
  

  Product credit: HealthCraft bed rail

• Stair lift. Motorized seat that transports a person up and down stairs safely
  

  Stair lift

Ergonomic tools

• Raised toilet seats. Make transferring or standing up from sitting easier, minimizing the need for lifting during bathroom visits
  

  Raised toilet seat

• Shower chairs and transfer benches. Allow for safe, seated bathing
  

  Product credit: AquaSense shower chair.

• Standing desk and anti-fatigue mats. Reduce strain on caregivers’ joints while doing paperwork, cooking, and other tasks
  

  Anti-fatigue mat

5. Take care of yourself

Injury prevention isn’t just physical — it’s mental and emotional, too. When you’re exhausted or overwhelmed, you’re more likely to move incorrectly, rush, or ignore warning signs from your body. You are also more vulnerable to stress and fatigue when you don’t take care of your mental health.

Here are some tips for caring for yourself:

• Don’t try to do it all alone. Ask family members or close friends for help or, if possible, hire part-time or respite care. “Surround yourself with your village,” Dr. Vassilopoulos says. “This can include loved ones, but if you do not live near them, consider leaning into your medical team, as well as local and national organizations with resources. I recommend doing this long before you think you need to, because if you wait, it will feel harder.”
• Learn to say no. It may not be easy to say no to your loved one, but if you’re already feeling stressed, it’s OK to decline an extra task or something nonurgent that you don’t feel up to doing.
• Stay hydrated, eat well, and rest when you can. Your body needs fuel and recovery to keep going. “If you follow a schedule, consider blocking off time for yourself,” Dr. Vassilopoulos says. “These do not need to be large chunks of time — even 15-minute blocks sprinkled throughout your day can make it easier to breathe.”
• Seek therapy as early as possible. “Try not to wait until a mental health crisis happens,” says Hillary Cohen, LICSW, a clinical social worker in the Department of Neurology at MedStar Georgetown University Hospital. “Therapy can teach you techniques to cope if or when a crisis does happen.”
  

  Hillary Cohen, LICSW

• Acknowledge your feelings. Hillary says it’s important to know that your feelings are valid and be open about them with your friends and family, as well as your therapist, so they know how they can support you. “Caregivers may not always be fully honest in how they’re feeling because there is a stigma around this,” she says. “Try not to judge yourself for how you’re feeling. It’s normal to hold many, seemingly conflicting feelings at once.”
• Take care of your physical health. “Do not neglect your annual primary care visits, vaccinations, dentist appointments, and eye care,” Dr. Vassilopoulos says. “Feeling physically better will help you feel mentally better and support your caregiving efforts.”
• Remember, caring for someone doesn’t mean neglecting yourself. Learn how caregivers in our community practice self-care in their own lives.

6. Communicate with your loved one

Communicating openly and honestly is necessary for any relationship to thrive. Effective communication between caregivers and loved ones can limit misunderstandings and accidents and help with decision-making, which reduces overall stress and frustration for everyone.

Here are some communication tips:

• Approach conversations with empathy. Try to understand your loved one’s point of view before jumping to conclusions or making accusations.
• Remain respectful. When you’re frustrated, it can be easy to lash out in the moment. But expressing yourself clearly and respectfully will lead to better outcomes in the long run.
• Prepare your thoughts. If it’s difficult to address a tough topic, try writing down what you’re feeling and what you’d like to say before you approach your loved one.
• Practice active listening. Listening is the other side of the communication coin. Make sure you’re fully present in conversations and are listening with the intent to understand, not just to respond. Try to pick up on nonverbal cues and repeat what your loved one said back to them to ensure you’re on the same page.

If you have help from other caregivers or support systems, practice these tips with them, as well.

7. Use your resources

Hillary and Dr. Vassilopoulos both recommend seeking resources for caregivers, including support groups where you can connect with others in similar situations. Check out MDA’s list of caregiver resources.

“You’re not alone,” Hillary says. “There are so many people in caregiving roles. We all struggle at times, and this is really normal. It’s okay — and important — to take care of yourself and get help.”

Megan Kramer-Salvitti is a writer for Quest Media.

The post 7 Essential Tips for Family Caregivers to Avoid Common Injuries appeared first on Quest | Muscular Dystrophy Association.

In the same way, MDA supports people living with a wide spectrum of neuromuscular diseases — each distinct but all connected under one canopy of care.

“Being an umbrella organization means that we cover multiple diseases that are fundamentally related,” says Sharon Hesterlee, PhD, MDA’s Interim President and CEO. “They’re mostly genetic, all are rare, and all lead to muscle weakness. Those unifying factors give us a broad reach and strength, allowing us to serve a wide community while recognizing each disease’s uniqueness.”

That reach is especially important for individuals with ultra-rare diseases, which may not be supported by a disease-specific organization. “For example, when it comes to research funding, we’re able to advocate for broader neuromuscular disease research at the National Institutes of Health, which may benefit the ultra-rare conditions that otherwise might not receive research dollars,” says Paul Melmeyer, Executive Vice President of Public Policy and Advocacy at MDA.

Extending our reach

Working across multiple diseases doesn’t divide MDA’s efforts; it multiplies them.

Research

MDA’s research dollars go further because findings from one disease often inform discovery and drug development across many others.

“Because of the unifying factors that tie together all neuromuscular diseases, breakthroughs often have a ripple effect,” Dr. Hesterlee says.

She points to a successful gene therapy developed for spinal muscular atrophy (SMA) in infants. “Those learnings have been really helpful in understanding how we would set up a program in another disease like congenital myasthenic syndromes (CMS),” she says.

Care

At MDA Care Centers, specialists treat the spectrum of neuromuscular diseases. The same neurologists and clinicians often care for people living with various types of muscular dystrophies, amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), myasthenia gravis (MG), and many other conditions.

“One of the immediate outcomes of that unifying factor — muscle disease — is that care tends to be applicable across diagnoses,” Dr. Hesterlee explains. “By operating under one umbrella, MDA ensures that care approaches, expertise, and resources are shared more widely, benefiting all individuals in the entire neuromuscular community.”

Programs

MDA’s umbrella structure also enables programs that would be difficult for single-disease organizations to scale.

“MDA Summer Camp is an excellent example,” Dr. Hesterlee says. “Because we bring together kids with different neuromuscular conditions who share similar needs, we can create a camp experience that simply couldn’t be scaled by a single-disease organization.”

Community support

One of the most powerful aspects of MDA’s umbrella model is the connections it fosters, even for those with the rarest conditions.

“An individual with an ultra-rare disease may be the only person they know with that condition,” Paul says. “But by meeting others with similar neuromuscular diseases, they discover shared experiences, and a true community can be built.”

A careful balance

MDA advances policies, research, and resources that empower the entire neuromuscular community while also addressing the needs of people living with specific conditions, including ultra-rare diseases. By blending broad advocacy with targeted support, MDA ensures that both collective and individual needs are met.

Dr. Hesterlee emphasizes that MDA aims to enhance, not duplicate, the work of disease-specific groups. “We work hard to determine how we fit into that ecosystem so that we complement the work of single-disease organizations in ways where we bring the most value,” she says. “Single-disease organizations may report out information with a lot more detail for their disease, while MDA, as an umbrella organization, provides a big-picture perspective that connects insights and resources across more than 300 conditions.”

Both approaches are crucial to providing the breadth and depth needed to support the neuromuscular community.

“Collectively, we are all working to make sure the whole is greater than the sum of the parts,” she says.

Michelle Jackson is a writer for Quest Media.

Bringing More Voices to the Table

Coalitions — networks of organizations or individuals united around a cause — play a vital role in advancing the rights and needs of people with disabilities. As an umbrella organization, MDA amplifies these voices, turning many into one powerful chorus.

“We are uniquely capable of bringing along other rare neuromuscular disease advocacy groups in public policy and advocacy efforts that otherwise might have difficulty collaborating,” says Paul Melmeyer, MDA’s Executive Vice President of Public Policy and Advocacy. “We’re able to look for commonalities and put 50 or 60 voices behind an effort rather than one or two.”

MDA takes a leadership role in many neuromuscular disease coalitions, such as the Neuromuscular Advocacy Collaborative, made up of more than 30 patient advocacy organizations.

At the same time, MDA joins larger groups focused on chronic disease or disability advocacy to ensure that the neuromuscular voice is represented.

“For individuals with a neuromuscular disease navigating their health condition or disability, we’re able to provide that voice for these coalitions that are advocating for an even broader number of individuals,” Paul says.

The post MDA’s Umbrella of Care: One Organization Connecting 300+ Neuromuscular Diseases appeared first on Quest | Muscular Dystrophy Association.

The study

People who have generalized myasthenia gravis (gMG) may be eligible to participate in a phase 3 clinical trial to evaluate the safety and efficacy of the investigational therapy cladribine to treat gMG. Cladribine is designed to recognize and remove some types of immune cells that do not work properly in people with gMG. It is being evaluated for the ability to improve MG signs and symptoms, as well as the ability to carry out activities of daily living in people with gMG.

This is a phase 3, randomized, double-blind, placebo-controlled study, which means that participants will be randomly assigned to receive the drug or an inactive placebo control. The study will be approximately 3 years in duration, divided into three periods. In periods 1 and 2, participants will attend site visits every 4 weeks with telehealth calls between visits, for a total of 27 visits and calls. In period 3, participants will have site visits every 12 weeks, with two telehealth calls in between each site visit, for a total of 23 visits and calls.

The drug will be administered orally (by mouth). The effects of cladribine will be evaluated using a number of tests and procedures including but not limited to: physical examination, clinical assessments, blood tests, pregnancy tests, assessment of vital signs, and health-related questionnaires.

Interested in participating?

To learn more about the study, please visit the following links: www.mycladstudy.com and NCT06463587 | ClinicalTrials.gov.

If you have questions or inquiries about participation, contact the US Medical Information at EMD Serono – phone number: 888-275-7376 and email: [email protected]

The post Clinical Research Opportunity: Phase 3 Study of Cladribine in People with Generalized Myasthenia Gravis (gMG) appeared first on Quest | Muscular Dystrophy Association.

Being a father and stepfather has definitely had its challenges. Everything from building a relationship with a 12-year-old girl who really didn’t want a stepdad at first, to sleepless days and working night shifts to keep my own newborn son at home during his early years.

Kevin and his daughter.

Not much of it was easy – but all of it was worth it.

My daughter is 25 years old now and our bond is unshakeable. All the work we put in has developed into a beautiful relationship that I couldn’t live without. Without bragging too much, I’d say she and I both got it right.

My son is 11 years old. There are days when he tests me. There are days when he makes me the proudest dad I could ever be. Watching him and his mannerisms every day, it’s clear that he is a chip off the old block. His hobbies align with mine, his snarky sense of humor has a lot of me in it, and I’ll even admit that on the challenging days I catch myself repeating to him what my dad would say to me 37 years ago. So, I have to own that too!

He’s a beautiful blend of his mother and I, but she and I could pass as siblings, so it makes it easy to claim his physical traits for both of us. He’s a tall, pasty white Irish kid that I adore. Family and old acquaintances of mine are always quick to point out that he looks like me or “I remember you looking exactly like that!”

No doubt he is my son.

And that, that is where I have had the hardest struggle of my life.

Fatherhood unchartered

I live with Charcot-Marie-Tooth 1-A, passed down from my maternal side. I struggled in sports, my career, and my personal life. CMT is a part of me and my journey and fighting it every day has become my norm.

CMT progresses as you age so my body changes as the calendar flips, but I’ve done very well adapting and having a full life. As I get older, I pay more attention to how my feet and toes are deteriorating and I am now aware of the symptoms starting to show in my hands. It’s nothing more than being mindful of my status and taking better care of myself, especially after becoming a father.

Then…one day…I caught myself watching my son’s feet. Watching him walk. Watching him move his toes. I found myself running my hand over his calves and feet while he napped on my lap. Without even realizing it, I was looking for things that only I could see.

The older he got, the more I watched.

“What are you doing to my feet, Dada?!”

Kevin and his son.

“Move your toes for me bud. Can you feel this? How about this?”

Each time I did things like this, I felt a relief that his feet were not like mine – but my CMT didn’t set in until puberty and that time is coming near for him.

This spring, my wife and I were trying to make the decision to have our son complete genetic testing to see if he carried the gene for CMT. What felt like out of the blue, my depression started to come into play more and more. I had a strong grip on it after building the life and family that I always wanted, and I had kept it at bay for nearly a decade. But no matter how busy I stayed, no matter how positive I tried to be…something had ignited it and was pouring fuel on it.

I attended many counseling sessions; we discussed things in my past and moments in time that I felt gave birth to my depression. Then one day…a bad day, while sitting with my counselor, she asked about my son. I knew she was trying to redirect me to positive things in my life, and she knew that little boy was my everything. After some smiles and giggling about how much he’s his father’s son, she…unknowingly…dropped a bomb on me.

“Does he have CMT as well?”

She verbalized it and that’s all it took. The way that I was feeling was because of the fear that my son might also have CMT.

Once the smoke cleared, she very lovingly said, ”We found it, now we can fight it,” about what was triggering my depression: fear.

Facing the fear and finding answers

If you’re a Gen-Xer like me, and played with GI Joes as a kid, you’ll remember that every GI Joe cartoon and commercial ended with, “And knowing is half the battle!” The problem is, sometimes you hate knowing.

I know now this is the jet fuel that’s been feeding my depression, and I came to realize that I need to know if I’ve passed the gene for CMT onto my son. It needed to be more than me watching his feet, it needed to be more than my hopes.

We set up a meeting with our physician and ordered genetic testing for my son. During this process, I had never felt so alone and so guilty. I covered his blood work appointment up with, “It’s just stuff to find out about your allergies,” so that he wouldn’t worry. I found myself feeling so guilty that I wouldn’t speak to his mother about it. I felt like I had created a huge problem inside this perfect little family, and that I alone had to face it and fight it.

I couldn’t.

Nothing I did seemed to make a dent in it.

Then I did something not only out of my comfort zone…out of my comfort world…I joined the MDA.

Realizing I don’t have to fight alone

Nervous, anxious, uneasy, and actually sick to my stomach…I sat in on my first MDA Ambassador meeting. As I looked at my computer screen, which was full of faces from all over the world, I slowly realized that I may be alone in my head, my home, and even my town with this disease and battle I’m fighting, but I’m not alone in this world.

Every square had a different face, a different story, a different life. Some young, some parents, some with a few things in common with me and some with what I thought was nothing in common…until I realized we all had one thing in common…each other.

We were all looking for each other.

Whether we were sitting alone or in a home full of family, we were all looking for each other knowing that no matter how much we’re loved, how much support we have, we need our people that understand us in our darkest, deepest struggles. You need a person that you don’t have to act with. You need people that don’t depend on you to be a spouse, a parent, or a coworker. You just need a face that looks back at you and says, “I get it.”

Today, I’m still waiting for the results of my son’s  testing to return. It’s not easy. I know that if his tests  come back negative, I’ll shoot off fireworks. But if it comes back positive, I know how to manage it from my own life experiences. I know that being a member of this community and an Ambassador for the MDA, I have so many good souls that will “get me.”

That is why I will get through this.

The post MDA Ambassador Guest Blog: How Finding Community Helped Me Face the Fear of Having My Son Tested for CMT appeared first on Quest | Muscular Dystrophy Association.

John’s 2025 visit to Graceland.

Living with a disability is never easy, and there are some days where I just don’t want to get out of bed. And I do have days when I ask, “why me.”   But I refuse to let my disability define me. I’ve come to a point in my life where I need help with things I can no longer do. I used to feel that I was swallowing my pride when I needed and asked for help. But I now know that’s the way my life is now. And I now know that for the people who are helping me, that is their way showing me an invitation of love. I have a wonderful supportive group around me. My wife is my biggest supporter. I’m very close with my daughter who’s always there when I need her. I’m very close with my cousins and childhood friends. When one of us needs help, we tend to “circle the wagons” for each other. They’re always ready to help me. And I’m thankful for that. Some days it’s what keeps me going.

John Krepps

No two people living with Charcot Marie Tooth experience the same symptoms. Other than the obvious physical problems, it can also cause mental stress. I, myself have struggled mentally because every day is a challenge. In the last five or six years, I’ve seen my body go from pretty good shape, being able to work out and lift weights, to needing help from my wife for simple things that we take for granted every day, like tying my shoes or opening a zip lock bag. I’ve had eight surgeries on my feet that have helped with my feet deformities and my ability to walk. But this year I was fitted with my first AFO’s and I now need to use a cane when I’m walking.

2025 is my 25th anniversary of being associated with the MDA. My journey started as a volunteer, answering phones on the old annual Jerry Lewis Labor Day MDA Telethon. That evolved into various opportunities, including speaking at different events. One of the greatest things I’ve ever accomplished was being awarded volunteer of the year twice for the Western Pennsylvania District of the MDA.This presented me with a fantastic platform to advocate for MDA. A few years ago, when I was asked to be an ambassador, it was near the end of the pandemic, so there were a few slow years for being an advocate.

John speaking at the 2025 Dean Martin Festival.

Still, I decided if I was going to do this, I was going to give it everything I could. I know the value of using my voice. My future plans are a YouTube channel and eventually a podcast. I’ve been given so many great opportunities to spread awareness, because of the MDA. In June of this year, I was asked to speak at the Dean Martin celebration days in Steubenville, Ohio representing the MDA as an Ambassador because MDA was the organization that was being spotlighted to raise money for. It was the biggest audience I’ve ever spoken in front of, and It was truly an honor to be able do this.

I have accepted the realization that I have a disease that there is no cure for. I also realize I can be a voice for others living with muscular dystrophy. “Every day is a struggle living with a disability, but I believe that having a rare disease and my association with MDA gives me the greatest opportunity there is to spread awareness.” and for that I’m thankful.

The post MDA Ambassador Guest Blog: My Journey to Gratitude is Paved with Acceptance and Advocacy appeared first on Quest | Muscular Dystrophy Association.

The study

This is a placebo-controlled study that will examine at least four dose levels of AMX0114, sequentially, in approximately 48 participants. The participants will be divided into four cohorts made up of 12 participants. In each cohort, nine participants will receive active AMX0114 and three participants will receive an inactive placebo control. For all participants, the study will consist of three periods including a Screening Period, a Treatment Period, and a Safety Follow-up Period. During the Screening Period, participants can expect to come to the clinic between one and three times. During the Treatment Period, participants can expect to come to the clinic at least 10 times and be called on the phone at least eight times. During the Safety Follow-up Period, participants can expect to come to the clinic at least once and be called at least once. The total duration of the study will be 25 weeks.

AMX0014 will be administered intrathecally through a lumbar puncture. Participants will undergo a total of five lumbar punctures throughout the study. The effects will be evaluated using a number of tests and procedures including but not limited to: examination of adverse events, lumbar puncture to collect cerebrospinal fluid (CSF) samples, blood tests to collect blood biomarker and pharmacokinetics samples, collection of blood and urine samples, assessments of ALS progression using the ALS Functional Rating Scale – Revised (ALSFRS-R) and the slow vital capacity test (SVC), and additional physiological and neurological exams, assessments, and questionnaires.

Study criteria

To be eligible for this research study, individuals must meet the following inclusion criteria:

• Ability to understand the purpose and risks of this study and willingness to comply with the study and to provide informed consent in accordance with local laws and regulations
• Male or female, at least 18 years of age.
• Diagnosis of clinically definite or clinically probable ALS
• Time since onset of first symptom of ALS should be <24 months prior to beginning the study
• If treated with riluzole and/or edaravone before or during the trial, must be on a stable regimen for at least 30 days prior to starting the study and through the end of the study
• No plans for pregnancy or sperm donation during the trial for up to 90 days after the last dose

Individuals may not be eligible to participate if they are affected by another condition or receiving another treatment that might interfere with the ability to undergo safe testing.

Please visit this link for the full listing of inclusion and exclusion criteria.

Interested in participating?

Travel support will be available for eligible participants.

To learn more about the study or inquire about participation, contact the Amylyx Medical Director at [email protected] or visit our trial listing at https://clinicaltrials.gov/study/NCT06665165.

The post Clinical Research Alert: Phase 1 Study of AMX0114 in Adults with ALS appeared first on Quest | Muscular Dystrophy Association.

With so many valuable podcasts, blog articles, and magazine articles available to our audience, chances are that you may have missed one or two pieces of interesting content. Check out the summaries and links below.

In case you missed it…Quest Product Guide:

The Quest Holiday Product Guide is Here!

As the holiday season approaches, this product guide is the perfect place to shop for gift-giving inspiration (and possibly find a thing or two for yourself). This guide is designed to help you find tried-and-true products that make life more independent, stylish, and fun. All the products you see here were chosen by MDA Ambassadors, who shared exactly how each product helps them in their daily lives. Shop here.

In case you missed it… Quest Blogs:

What to Know About Changes to Food Assistance through SNAP

Funding for the Supplemental Nutrition Assistance Program, which provides food assistance to more than 42 million children and adults across the country – including 4 million people with disabilities – will run out in November as a result of the federal government shutdown. Learn more about changes to SNAP as a result of the government shutdown, changes to SNAP as a result of the reconciliation bill, and what families affected by neuromuscular diseases can do to prepare for these changes. Read more. 

Simply Stated: Updates in Neuropathy Ataxia and Retinitis Pigmentosa (NARP) Syndrome

Neuropathy ataxia and retinitis pigmentosa (NARP) syndrome is a rare, maternally-inherited condition caused by mutations in mitochondrial DNA, affecting the energy-producing structures within cells. The condition typically begins in childhood or early adulthood and presents with a wide range of symptoms. These may include learning difficulties, muscle weakness (particularly around the eyes), uncoordinated movements (ataxia), and sensory changes in the hands and feet. Check out an overview of symptoms, causes, current management, observational studies, therapeutic efforts, and MDA’s work to further cutting-edge NARP research. Read more. 

In case you missed it… Quest Podcast:

Episode 57: Voices of Inclusion – Celebrating NDEAM with Disability:IN

In this Quest podcast episode, we dive into accessibility and inclusion in the workforce with Russell Shaffer, Executive Vice President of Strategy & Programs at Disability:IN. Drawing on his lived experience of vision loss and his years of working in corporate diversity, equity, and inclusion, Russell shares how businesses can move from compliance to strategic disability inclusion, key metrics and benchmarking that have led to tangible recommendations for employers, and how individuals with disabilities and organizations alike can lead the change. He shares his expertise and advice as we discuss creating inclusive workplaces, what’s next in the field of disability inclusion, and how we can all play a role in advancing employment and empowerment. Listen here.

The post In Case You Missed It… appeared first on Quest | Muscular Dystrophy Association.

Exoskeletons are most often used to support and assist the lower body due to paralysis or weakness in the spine, hips, and/or legs.

According to Ekso Bionics, an exoskeleton technology company, exoskeletons may improve muscle strength, spasticity, and gait, allowing people with paralysis or other mobility issues to perform daily activities more easily and independently.

Currently, exoskeletons are mainly used in physical therapy (PT) settings, under the guidance of physical therapists (PTs) trained in their use. However, as the technology improves, more devices are becoming available for home use.

Exoskeletons increasingly used in PT

As a recent report in the Expert Review of Medical Devices notes, “Wearable technologies will continue to transform neurorehabilitation by enabling more precise, consistent, and personalized therapy both in the clinic and at home.”

According to Joshua Breighner, PT, DPT, a board-certified clinical specialist in neurologic physical therapy in New York City, that transformation is happening now. Joshua is the owner and Physical Therapy Director of Walk in New York, a partnership with Wandercraft, a manufacturer of self-balancing exoskeletons that enable people with neurological conditions to stand and walk.

Joshua says Wandercraft’s exoskeletons can assist adults with cerebral palsy, multiple sclerosis, and neuromuscular diseases.

PTs conduct thorough screenings to ensure individuals can use exoskeleton devices safely, focusing on range of motion. Whether a person needs to be ambulatory or weight-bearing depends on both the patient and the device.

Doug McCullough uses the Atalante X exoskeleton with physical therapist Joshua Breighner.

Wandercraft’s first version, Atalante X, was introduced in 2019. It is FDA-approved and is available in hospitals and rehabilitation facilities, including some PT clinics. Atalante X fits over the trunk and lower body and is attached to a safety tether. It allows patients with severe gait impairment, including those with upper extremity dysfunction, to stand upright and walk hands-free, mimicking a natural gait. Twelve motors and many sensors throughout the legs and feet enable the device’s self-balancing. The PT can adjust the assistance level to match the patient’s needs.

The company has also developed Eve, the first self-balancing exoskeleton designed for home use, which is currently being evaluated in clinical trials.

Doug McCullough lives in central New Jersey but travels to Manhattan to work with Joshua, using the Atalante X. Diagnosed with spinal muscular atrophy at age 11, Doug learned about Wandercraft at a Global Accessibility Awareness Day event in 2025.

“I first tried an exoskeleton in 2013,” says Doug, 58. “Earlier versions of exoskeletons required users to use crutches or walkers, which is difficult for people with below-average upper-body strength. The Atalante device has the benefit of not needing the user to provide any upper body support.”

Doug began using a power wheelchair periodically two years ago, when it became more difficult to walk long distances or on uneven terrain. Then he broke his thigh bone in a fall.

“I’m still rehabbing my leg, and this device helps me use muscles I haven’t been able to use,” he says. “This technology is very exciting.”

Robotic exoskeletons detect intended movements

Dwayne Wilson used the Hybrid Assistive Limb (HAL) robotic exoskeleton for physical therapy.

For Dwayne Wilson, who was diagnosed with Pompe disease in 2018 at age 50, the Hybrid Assistive Limb (HAL) device is changing the way he moves his muscles during PT. This exoskeleton device resembles a large double leg brace extending from the lower back to the feet.

HAL, manufactured by Cyberdyne, is one of several FDA-approved robotic exoskeletons, a type of exoskeleton that uses sensors to detect bioelectrical signals — the wearer’s intentions — and then perform the appropriate movement, such as taking a step forward.

Practicing walking with HAL at his PT clinic has helped Dwayne improve his balance and rebuild some of his strength and confidence.

“HAL made me feel like I was a superhero in ‘The Avengers’ movies,” says Dwayne, 57, of Irvine, California. “It gave me a greater range of motion, and I could actually do squats with HAL.”

Exoskeletons as assistive aids

In Monument, Colorado, Mary Jane Niles, 70, uses the Hypershell X Go exoskeleton as an assistive aid for walking and everyday motion. She was diagnosed with facioscapulohumeral muscular dystrophy (FSHD) in 1990. In addition to affecting the muscles of the face and upper arms, FSHD can cause weakness in the abdominal, hip, and lower leg muscles.

The Hypershell X Go has a padded waist belt with hinged carbon fiber rods extending down the outsides of the thighs to straps above the knees. Motors at the hips facilitate leg movement.

Mary Jane Niles uses the Hypershell X Go exoskeleton as one of her mobility aids for walking.

Mary Jane says the exoskeleton helps her maintain good posture while using her walker. She also uses ankle-foot orthoses (AFOs) to manage foot drop. Adding the exoskeleton to her mobility aids has helped her extend her mobility without a wheelchair.

She hopes to upgrade to a higher powered Hypershell X model for more assistance on inclines; however, neither Medicare nor private insurance covers this device because it is not manufactured for rehabilitation — and that’s a critical difference.

Anyone who would like to use an exoskeleton device for medical reasons should consult their doctor and request a referral to a physical or occupational therapist for advice on which type is best and whether insurance coverage is available.

Joshua explains that Medicare opened a reimbursement pathway for personal exoskeletons — meaning not solely for use in a clinic — in April 2024. While this is still evolving and every case is reviewed individually, it is a step forward.

“It was a clear acknowledgement that this technology could provide real medical and social benefits,” Joshua says. Medicare classifies exoskeletons as braces and generally covers 80% of the total cost. (Some devices exceed $100,000.) However, as this is still a new area of medical coverage, insurance decisions are made on a case-by-case basis.

Joshua hopes that the availability of exoskeletons and understanding will broaden as they are used more. “To hear what patients say about them is compelling and powerful,” he says.

The post Exoskeletons Improve Movement for Those with Neuromuscular Diseases appeared first on Quest | Muscular Dystrophy Association.

At the time, there was no approved treatment for TK2d, but his parents, Olga and Art, learned of an investigational therapy being studied by Michio Hirano, MD, a neurologist at Columbia University Irving Medical Center in New York, an MDA Care Center. They reached out to Dr. Hirano, who agreed to see Arturito.

At this point, Arturito’s condition was declining rapidly. In just a few months, he had lost almost all movement and the ability to swallow, and he required breathing support.

The Estopinan family with Michio Hirano, MD (left)

“When TK2d progresses, unfortunately, it can lead to early and premature death,” Dr. Hirano says. He was involved in a clinical trial for a therapy that helps the body make more mitochondrial DNA, which is lacking in TK2d. “This therapy, in many cases, restores some motor functions to the patients, especially young patients.”

Dr. Hirano thought the therapy could help Arturito, but it was not yet approved by the US Food and Drug Administration (FDA), and Arturito could not join the clinical trial.

With Olga and Art’s support, Dr. Hirano requested that the investigational therapy be administered to Arturito outside of the clinical trial through a pathway called expanded access. After the pharmaceutical company developing the therapy agreed, the FDA reviewed the request and approved it within two weeks. When Arturito was 20 months old, he began receiving the therapy, which he continues to this day.

Now, at 14 years old, Arturito has gained back much of the movement he lost. He drives a power wheelchair and breathes independently at school. “Arturito is a very determined young man,” Art says of his son.

What is expanded access?

Expanded access, also called compassionate use, is when a pharmaceutical company provides an investigational, unapproved product to a patient outside of a clinical trial.

Expanded access may be granted in cases where an individual is not eligible to participate in a clinical trial and has a serious or life-threatening condition.

A physician must request expanded access on behalf of their patient. If the pharmaceutical company is willing to provide the drug outside of a clinical trial, the physician will seek approval from an Institutional Review Board (IRB) and the FDA. The FDA will consider many factors, including whether the potential benefits to the patient outweigh the risks and if providing the drug to the patient would interfere with the drug development program.

“All of these experts need to get together and decide that the benefits of taking this investigational product — for which we don’t have a full understanding of the effectiveness and safety because the FDA has not yet approved it — still outweigh the risks for the patient,” says Paul Melmeyer, MDA’s Executive Vice President of Policy and Advocacy. “That is not an easy bar for a prospective therapy to overcome, and consequently, at any given time, only a handful of therapies may be permissible to be obtained via expanded access.”

If a patient is in a life-threatening situation, the FDA may give immediate approval for expanded access. Typically, the review process takes about 30 days.

When expanded access is granted, the drug is provided free or at cost; the pharmaceutical company is not allowed to make a profit. However, families may be responsible for costs associated with administering the therapy — such as infusions and examinations by healthcare providers, or hospital stays — which may not be covered by health insurance.

Balancing risks and rewards

Investigational, unapproved therapies are still being studied, and researchers may not be aware of all the potential side effects. The earlier a therapy is in the drug development process, the less is known about its possible effects. Before requesting expanded access, individuals and families should carefully consider how potential risks compare to the potential benefits of an investigational treatment.

In Arturito’s case, Olga and Art understood that the therapy could cause side effects and was not guaranteed to help Arturito. However, there were no other treatments, and his TK2d had progressed to the point of causing frequent episodes of life-threatening respiratory distress. “This was the only saving answer that we had potentially for our son, and no one really knew what would happen,” Art says.

Arturito, now 14, has gained much of the movement he lost.

After Arturito started the therapy, his breathing improved, and he began regaining motor milestones he had lost. However, while the therapy was beneficial for him, that is not always the case. Sometimes, promising results in a clinical trial do not translate to other situations, such as when a disease is more advanced. There is also the risk that the investigational therapy could lead to reduced quality of life and even shortened life expectancy.

For these reasons, pharmaceutical companies and the FDA consider each request for expanded access on an individual basis. They also have other reasons to be cautious about granting expanded access.

Pharmaceutical companies must consider whether there is enough supply of the drug to make it available outside the clinical trial. Before a drug is approved and made commercially available, there may not be a way to manufacture extra doses. Companies may also be concerned about whether allowing the therapy to be used outside the closely controlled conditions of a clinical trial will affect the review and approval of the product.

In addition, the FDA must consider how granting expanded access could impact other clinical trials. Once a patient takes an investigational therapy, they may not be eligible for future clinical trials.

“The FDA is thinking about all those folks who might participate in a clinical trial. Is giving them expanded access now potentially compromising those future efforts?” Paul says. This is an especially important consideration for rare diseases because the patient population is small.

While expanded access gives individuals in need the opportunity to take investigational drugs, clinical trials have the potential to develop new therapies that will benefit a broader group of people.

“Clinical trials are still the most important and best way for our community to access therapies before FDA approval,” Paul says. “However, we know many folks are unable to participate in a clinical trial, and there isn’t an FDA-approved product that would comparably benefit their health, and consequently, an expanded access program may be their best option.”

MDA’s role in expanded access

Many neuromuscular diseases do not yet have effective treatments, and there is a robust drug development pipeline. MDA’s advocacy team engages with pharmaceutical companies and the FDA to encourage them to consider expanded access programs.

“We want to empower the FDA to have all the information and resources that they need to make an educated choice when it comes to expanded access,” Paul says.

In fact, Art has spoken with the FDA multiple times, serving as a parent advocate to help them understand the impact TK2d and expanded access have had on his family. The neuromuscular community plays a significant role in encouraging the FDA to consider patient and family experiences and the urgency of treating progressive diseases.

“For example, we think about the ALS community,” Paul says. “Some folks, after being diagnosed with ALS, may have as short as a handful of months. It’s such an urgent situation that if there’s an expanded access possibility, we strongly encourage everybody involved with that investigational product — the pharmaceutical company, clinical community, FDA, and IRB — to do everything possible to offer expanded access.”

MDA recognizes that expanded access to investigational drugs can be a lifeline in cases like Arturito’s. The ultimate goal is to balance current and future patient needs.

On November 3, 2025, the FDA approved KYGEVVI® (doxecitine and doxribtimine) as the first-ever disease-modifying treatment for TK2d. 

The post How Expanded Access and Compassionate Use Broaden Access to Investigational Therapies appeared first on Quest | Muscular Dystrophy Association.

Including motivational books, personal memoirs, fiction, poetry, and books about parenting, you’re certain to find something here for every book lover on your holiday shopping list – or to add to your own wish list!

Don’t Let Your Struggle Become Your Standard by Jose Flores

Forty-eight-year-old Jose Flores, who lives with spinal muscular atrophy (SMA) and resides in Fort Lauderdale, Florida, is a best-selling author and professional speaker. In his book, Don’t Let Your Struggle Become Your Standard, Jose shares his insights and expertise about overcoming struggles, harnessing a positive mindset, and recognizing the power within to triumph through life’s challenges. The “mindset disruptor” joined us in 2023 on the Quest Podcast Episode: New Year, New Mindset to share his experience growing up with a physical disability and to give advice on using the power of your mind to overcome anything that life throws your way. The podcast and his book both dive into a truth that he is eager to share with others: “In life, struggles are inevitable. But being defeated by them is optional.”

“I wrote Don’t Let Your Struggle Become Your Standard to show people that your circumstances don’t define you—your choices and mindset do. As you dive into the pages of this book, I will show you creative and practical ways to overcome many struggles through my own personal stories and experiences. I will also show you ways to manage your mind and get rid of the negative thoughts that try to hinder your success,” Jose says. “I want to empower others to rise above life’s toughest challenges, break free from limiting beliefs, and realize they were created for more. This book is a reminder that your struggle can be the steppingstone to your greatest success.”

Check out English, Spanish, and Audio Book options.

Courage, Motivation, and Tenacity by Ed Linde

Ed Linde, 68, shares his journey living with Charcot-Marie-Tooth disease (CMT) in his memoir Courage, Motivation, and Tenacity. The MDA Ambassador and Riverview, Florida resident invites the reader into his personal experiences living with a progressive disease – the challenges, insecurities, disappointments, successes, and adaptations. As his disease progresses, Ed embraces the question “What do I want to do and how can I do it”, learning to adapt to ever-changing conditions with an unwavering faith in the ability to overcome obstacles.

“I wrote this book to share my journey of living with a progressive disease, not as a story of struggle, but as a testament to resilience and the power of a never-give-up attitude,” Ed says. “My goal is to offer hope, strength, and encouragement to others facing their own challenges—reminding them that even in the face of uncertainty, we can choose determination over defeat.” Read more about Ed’s story here.

The Art of Living, The Joy of Fighting ALS by Michelle Yelland

Michelle Yelland, a 53-year-old Pennsylvania author living with amyotrophic lateral sclerosis (ALS), invites readers into her life with raw honesty, grace, and humor. Her memoir, The Art of Living, The Joy of Fighting ALS, shares her deeply personal experiences finding strength, love, and joy in the fight of her lifetime. Michelle invites us to seek hope and strength – and to remember that joy can coexist with pain.

“The Art of Living, The Joy of Fighting ALS is not just about surviving a chronic illness — it’s about embracing life more fully because of it. It’s about abiding through illness, finding meaning in everyday beauty, and showing others that we are more than our diagnosis,” says Michelle. “I wanted everyone to know what I was doing every day and to share what life with ALS is really like. A lot of people don’t know much about it—even people I worked with didn’t really understand. Writing the book was a way to give people that insight.”

Learn more about Michelle’s journey here.

As Life Went On, Caste Aside, and Life without Love is Impossible by Pinky Patel

Pinky Patel is a 43-year-old, multi-book author living with Friedreich’s ataxia (FA). Born in India, Pinky now lives in Cartersville, Georgia, and has published a personal memoir, a novel, and a collection of poetry.

• As Life Went On is a collection of articles and essays recording Pinky’s life experiences. She wrote the autobiography with hopes of raising awareness about the deceptions that society tells us about life with a disability. Focusing on the aspects of our culture that sometimes base perceived abilities on appearances, Pinky challenges false narratives about living with a disability and embraces empowerment.
• Caste Aside is a romance novel set in Australia that includes themes of living with a disability, cultural differences, family loyalty, and love. The story is a blend of deep moments and comic relief, following the fictional romantic journey of Preya Patel as she battles herself between following her heart and honoring her family and culture’s expectations of her relationships. “It’s a tear-jerker with comical moments,” Pinky says. “This multicultural romance novel can take your mind off of a long day!”
• Life without Love is Impossible is a collection of romantic poems (available as a Kindle ebook) inspired by Pinky’s own experiences with love. She shares her own deeply personal insights that universally resonate with anyone who has ever been in love or searching for love.

Just say, Oscar by Oscar Coto

Thirty-three-year-old Oscar Coto is a California-based poet who lives with Duchenne muscular dystrophy (DMD). His book, Just say, Oscar, is a collection of poems dedicated to the greatest love that he ever had – and lost. Oscar takes his readers on a rollercoaster of complicated emotions through a journey of falling in love, losing love, lingering regret, and the lasting impressions they leave on the heart.

“I wrote this book to honor the most profound love of my life – a connection that left echoes in every corner of my soul,” Oscar says. “Through poetry, I have captured the ache of loss, the beauty of longing, and the dreams that still refuse to sleep.” Read Oscar’s poetry compilation here.

Mothering with Muscular Dystrophy by Savannah Jordan

Savannah Jordan is a California-based, 32-year-old mother of two, living with limb girdle muscular dystrophy (LGMD) 2B (R2). She describes her book, Mothering with Muscular Dystrophy, as a “how-to-guide” for mothers living with neuromuscular disease. She documents her personal experiences from diagnosis, pregnancy, delivery, and infancy – through her current chapter parenting school-aged children. Savannah hopes to reach others living with disabilities who might be hesitant or concerned about pursuing motherhood and that her book can provide them with empowerment and tangible tools to navigate parenthood.

“I wrote this book because I wished someone else would have written one before I became a mother. There were truly no resources available for disabled mothers that I could find, and this is my opportunity to offer my knowledge,” Savannah says. “My story is meant to empower other women with disabilities who are struggling with confidence about being a parent. My hope is that, through my story, they can learn how to manage each parenting phase with ease. Motherhood is the greatest blessing in my life, and I want others to know that it can be for them too!”

Read more about Savannah’s parenting journey here.

Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease by Nikki McIntosh

Nikki McIntosh has learned a lot about parenting a child with a rare disease throughout her journey with her 13-year-old son, Miles, who lives with spinal muscular atrophy (SMA). She wrote Rare Mamas: Empowering Strategies for Navigating Your Child’s Rare Disease as a compassionate and actionable guide to help other mothers navigate the complexities of rare disease parenting – noting that it is the guide that she wishes she had when her son was first diagnosed. She also hosts The Rare Mama Podcast and provides strategies and resources for parents to navigate their child’s rare disease on her website. 

Nikki aims to empower mothers with hope, strength, and a sense of sisterhood on a unique path by helping caregivers feel less alone and better equipped for their journeys. “It’s a blend of heartfelt encouragement with practical tips for advocacy, self-care, and community connection,” Nikki says. “Drawing from over a decade of hard-won lessons, I poured everything I’ve learned into this book – to save other moms time, help them feel empowered, offer an infusion of hope, and ensure that no rare mama ever has to walk this road alone.” Read more here.

The post Books to Add to Your Holiday Shopping List This Year: Spotlight on Community Authors appeared first on Quest | Muscular Dystrophy Association.

Symptoms of NARP syndrome

Many people with NARP syndrome begin experiencing symptoms in childhood or early adulthood. The syndrome is progressive, meaning it worsens over time, and can present with a diverse range of symptoms, which may include, but are not limited to:

• Developmental delays
• Pain, tingling, or numbness in the limbs due to sensory neuropathy
• Balance and coordination problems (ataxia)
• Vision loss due to degeneration of the retina (pigmentary retinopathy)
• Muscle weakness, including potential involvement of cardiac or respiratory muscles
• Recurrent seizures (epilepsy)
• Learning difficulties or, in some cases, cognitive decline

NARP syndrome represents a spectrum of disease. In some cases, the prognosis for NARP syndrome is poor, leading to functional disabilities such as blindness, deafness, and wheelchair dependence in affected individuals over time.

For more information about the signs, genetic causes, and clinical management of NARP syndrome, see the overview published by the American Academy of Ophthalmology.

Cause of NARP

NARP belongs to a class of disorders known as mitochondrial disorders. Mitochondrial disorders are caused by inherited mutations affecting the function of mitochondria, the energy-producing structures in cells. These disorders typically impact organ systems with high energy requirements, such as the brain, skeletal muscles, and heart.

Mitochondrial disorders can result from mutations in either mtDNA or nuclear DNA. In the case of NARP, the condition is most often caused by a mutation in the mitochondrial ATPase 6 (MT-ATP6) gene, typically a T to G or sometimes a T to C change at nucleotide position 8993. Since the mutation occurs in mtDNA, the disorder is inherited exclusively from the mother. The same MT-ATP6 mutations are also linked to a form of Leigh syndrome, a more severe mitochondrial disorder that often begins in infancy. Some researchers believe NARP and Leigh syndrome are part of the same disease spectrum. The severity of disease depends on heteroplasmy, the ratio of mutant to normal mtDNA in cells. People with about 50–70% mutant mtDNA usually develop NARP, while those with over 90% mutant mtDNA tend to develop Leigh syndrome.

Current management of NARP

There is currently no known cure or disease-modifying therapy for NARP syndrome. Management is supportive and tailored to each individual’s symptoms. This may include treatment for complications of NARP such as high levels of lactic acid in the blood (lactic acidosis), seizures, uncontrolled movements (dystonia), and heart problems. Some patients may benefit from vitamins or dietary changes aimed at supporting mitochondrial function or reducing cell damage due to oxidative stress.

Given the variability of symptoms, care often involves a team of specialists, including neurologists, ophthalmologists, cardiologists, geneticists, and others, as well as regular monitoring and psychological support. Certain medications (e.g., sodium valproate, barbiturates, dichloroacetate, and anesthetics) can worsen symptoms and are generally avoided.

Observational studies

While the standard of care is still symptom management, research advances offer hope for people living with NARP syndrome. Patient registries and observational studies, in particular, are being established to help collect and analyze data from people with NARP in order to improve understanding of this syndrome and inform future therapeutic development. Notable efforts include:

Global Registry and Natural History Study for Mitochondrial Disorders (LMU Klinikum) – A patient registry and natural history study that is recruiting participants with mitochondrial disease in Germany. This is a longitudinal study that collects clinical data over time.

North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) (Columbia University) – A patient registry and tissue biorepository that is recruiting participants with mitochondrial disease at sites throughout the United States. This effort collects both clinical information and biological samples.

Mitochondrial Disease Sequence Data Resource Consortium (MSeqDR) – An international database that primarily collects genetic and clinical information from people with mitochondrial disease.

Rare Disease Patient Registry & Natural History Study – Coordination of Rare Diseases at Sanford (Sanford Health) – A patient registry that is recruiting participants with rare diseases, including mitochondrial disorders, at sites in South Dakota and Sydney, Australia.

Tissue Sample Study for Mitochondrial Disorders (Columbia University) – An observational study that is enrolling participants with mitochondrial disease by invitation in New York City. The focus of this effort is on collecting tissue samples.

UMDF Global Mitochondrial Patient Registry (United Mitochondrial Disease Foundation) – A global patient registry that collects clinical and demographic information from individuals with mitochondrial disease, including NARP.

Therapeutic efforts in NARP

Therapeutic development for NARP is still in the early stages, with no approved disease-modifying treatments available. Emerging approaches under investigation include mitochondrial-targeted antioxidants, such as EPI-743 and coenzyme Q10 analogs, which aim to improve cellular energy function and reduce oxidative stress. Nucleoside therapy, while currently used for some mtDNA depletion syndromes, has not yet been applied to NARP. In addition, gene therapy and mtDNA editing are being explored in preclinical studies as potential future strategies to address the underlying genetic defects in NARP and other mitochondrial disorders.

MDA’s work to further cutting-edge NARP research

Since its inception, MDA has invested more than $26 million in mitochondrial disease research. Through strategic investments from MDA, partner advocacy groups, and the National Institutes of Health (NIH), mitochondrial disease research is advancing, offering hope for breakthroughs and a better future for those living with conditions such as NARP syndrome.

MDA’s Resource Center provides support, guidance, and resources for patients and families, including information about neuropathy ataxia and retinitis pigmentosa (NARP) syndrome, open clinical trials, and other services. Contact the MDA Resource Center at 1-833-ASK-MDA1 or [email protected].

The post Simply Stated: Updates in Neuropathy Ataxia and Retinitis Pigmentosa (NARP) Syndrome appeared first on Quest | Muscular Dystrophy Association.

This conference is one of the most meaningful gatherings in the (NMD) community—bringing together clinicians, researchers, industry partners, advocates and individuals living with NMD. The four-day conference promises rich content, networking, and collaboration across the entire NMD landscape. Join us March 8–11, 2026, at the Hilton Orlando in Orlando, Florida.

Here’s your insider’s guide to attending, registering, and making the most of the experience.

Who Can Attend & How to Register

2025 MDA Clinical Scientific Conference

Whether you’re a clinician, researcher, caregiver, patient, industry partner or advocate, this conference is for you. A few important registration details:

• Registration for all attendees is open.
• For patients, caregivers and MDA volunteers who are registered with MDA: you may attend in person at a discounted rate (spaces are limited), or virtually at no cost.
• To attend: if you are a patient, caregiver, or volunteer, please complete the verification form. Once your status is confirmed, you’ll receive a separate registration link. Early-bird registration deadline: December 31, 2025.

Tip: Since the hotel block is limited and will fill fast, register early and book your stay as soon as your spots are confirmed—especially if you’re coordinating travel for a group or need accessible accommodations.

Agenda Tracks

Below is a list of the major content tracks for the 2026 conference. These tracks reflect the full spectrum of research, care and advocacy—all in the voice of innovation and impact. You can also view the full agenda here.

• Allied Health
• Amyotrophic Lateral Sclerosis (ALS)
• Care Trends
• Disease Mechanism & Therapeutic Strategy
• Drug Development Considerations
• Lab To Life
• Neurology

This robust agenda reflects the full spectrum of the neuromuscular disease ecosystem—from bench to bedside, policy to practice, care to cure.

A few words from MDA’s Chief Research Officer, Angela Lek, PhD

How do you choose each year what specific topics are most relevant for this group of almost 2000 clinicians and researchers who attend?

2025 MDA Clinical Scientific Conference

We get inspiration from a variety of sources. First, we send out an email to all attendees to ask for session topic suggestions for the following year. We take those results and discuss them within our team and also with our RAC members who volunteer to chair sessions related to their research expertise. Our medical advisors also offer input. We try to select topics that are timely and relevant to several diseases in our portfolio (e.g. session topic on muscle regeneration and repair, repeat expansion diseases, inherited peripheral neuropathies, inflammation and immune dysregulation, non-viral delivery approaches.)

For each lab-to-life session – these usually spotlight diseases that are closely linked (e.g. limb girdles, autoimmune NMDs, mitochondrial myopathies). Each year, we spotlight a different group in these sessions. The session can be composed of speakers who are clinicians, researchers, patient advocates.

Are there different tracks or topics that are created for clinicians versus researchers? Or is all of the content structured to be relevant to both?

Yes, we create different tracks to accommodate the different stakeholders that attend our conference – clinicians, researchers, allied health professionals. There are CME accredited sessions for clinicians.

For anyone living with neuromuscular disease who may be attending the conference either in person or virtually, what topics or sessions do you think would be most beneficial for them?

It depends on what their interest is (preclinical, clinical or care), and also what specific disease they are interested in.

Which sessions are you the most excited for this year?

This is hard. I would say the clinical trial updates session on the last day. The MDA conference is often the first forum that new clinical trial results are presented for drugs in testing. The poster sessions are also exciting because much of the data presented will be unpublished.

Anything else you would like to share about this year’s agenda or speakers?

Drug development considerations is a new track composed of the following sessions:

Next Generation Registry Development, Chair – Andre Paredes, PhD

Beyond the Science: Navigating Today’s Drug Develop Climate, Chair – Paul Melmeyer

Immune Response Considerations in Gene Therapy, Chair – Sergio Villalta, PhD

These conversations are evidence that the field is rapidly moving towards clinical translation for many of the diseases we cover.

Why This Matters & How to Make the Most of It

As we consider the intersection of community voice + research + impact, here are a few thoughts and tips:

• Connect the dots: This conference isn’t just about listening to talks—it’s about making new connections. Whether you’re a volunteer, clinician, researcher or industry partner, bring your “why” and your question. Humans × ideas × energy = progress.
• Scholarships & rates: The in-person discounted rate makes attendance more accessible—especially for patients, caregivers and volunteers.
• Virtual option: If travel is challenging due to mobility, fatigue, or scheduling needs, you can join virtually. You’ll have access to the same world-class content—just from wherever you are.
• Plan for accessibility: Book your hotel early. Request your needed accessibility features. Pre-schedule days so you don’t burn out.
• Mix sessions wisely: With so many tracks, plan your day by picking one or two key sessions per time slot, and allow buffer time for networking, rest and reflection.
• Bring your story: As a volunteer/family member/community voice, come ready to engage. Your lived experience matters just as much in the room as the data.
• Follow up: After the conference, turn inspiration into action—whether it’s a new partnership, a panel you’ll host, an article you’ll write or a volunteer initiative you’ll launch.

Conclusion

2025 MDA Clinical Scientific Conference

Let’s treat March 8–11 in Orlando not just as another item on the calendar, but our moment. Our community—those of us living with neuromuscular disease, advocating for each other, researching treatments, and showing up as professionals and volunteers—has never been stronger. The pace of discovery is fast, the stakes are real, and the opportunity to move from “what if” to “what’s next” is here.

We invite you—your voice, your curiosity, your passion—to join us in Orlando. Let’s gather, let’s learn, let’s collaborate, and let’s accelerate change for the people we serve.

Breakthrough begins when we gather.

The post Getting Ready for the 2026 MDA Clinical & Scientific Conference appeared first on Quest | Muscular Dystrophy Association.

The impacts of the government shutdown come on top of historic cuts to SNAP included in the reconciliation legislation passed by Congress earlier this year, which may lead to some families seeing their benefits ended or significantly cut at their next eligibility recertification (typically every 6 or 12 months, although it varies by state).

Below is an overview of what SNAP is; changes to SNAP as a result of the government shutdown; changes to SNAP as a result of the reconciliation bill; and what families affected by neuromuscular diseases can do to prepare for these changes.

What is SNAP?

SNAP provides critical food assistance to children and adults with disabilities and low-income families. SNAP has special eligibility rules for people with disabilities, regardless of age. Under SNAP rules, you are considered to have a disability if you meet any one of the following criteria:

• You receive federal disability payments including Supplemental Security Income (SSI) or Social Security Disability Insurance (SSDI)
• You receive state disability or blindness payments based on SSI rules.
• You receive a disability retirement benefit from a governmental agency because of a permanent disability.
• You receive an annuity under the Railroad Retirement Act and are eligible for Medicare or are considered disabled under SSI.
• You are a veteran with total disability, are permanently homebound, or need regular aid and assistance
• You are the surviving spouse or child of a veteran who is receiving benefits and is considered to have a permanent disability.

If you have a disability and want to apply for SNAP, your household must meet the following two conditions: your net monthly income must be equal to or below 100% of the federal poverty line and your countable assets must be $4,500 or less. If you live alone, this means your net income monthly income must be $1,225 or less. For a two-person household, it’s $1,704. If you live in a household where every member receives SSI benefits, you may ‘categorically’ qualify for SNAP without having to meet the net income test.

How does SNAP work?

Once enrolled, recipients receive an average payment of $187 per month on prepaid cards they can use to buy household food staples like produce, meat, and dairy. SNAP is federally funded through the US Department of Agriculture (USDA) with states administering benefits. In order to get benefits to recipients on the first of the month, states must send electronic files with SNAP recipient information monthly to an electronic benefit transfer (EBT) vendor to process the data and load benefits onto cards. Benefits are issued monthly and last for a full calendar year, meaning any leftover money in one month can be used in the next.

How is the government shutdown impacting SNAP benefits?

The US Department of Agriculture sent a memo to states this month stating if the current lapse in government funding continues, there will be insufficient funds to pay out full benefits in November. The Department instructed states to hold on sending their November files to EBT card processors in late October ‘until further notice’.

A number of states – reportedly, half – have announced they’ll begin pausing or winding down SNAP benefits due to the government shutdown, including: California, Connecticut, Texas, Alaska, New York, Pennsylvania, Washington State, Arizona, Colorado, Arkansas, Indiana, Mississippi, New Hampshire and New Jersey.

What changes did the budget bill (One Big Beautiful Bill Act) make to SNAP?

The 2025 reconciliation legislation made the largest cut to SNAP in the program’s history (20%) and made several policy changes to the program. One such change was that it shifted costs to states based on their SNAP benefit payment error rate, requiring states to contribute more towards SNAP. Based on FY2024 data analyzed by the Food Research and Action Center, 43 states would face new financial liabilities under this provision, worsening service disruptions and fiscal impacts to states. In addition, the bill cut the federal match for administrative costs, reducing it from 50% to 25% beginning October 1, 2026, leading to additional costs to states. Another change under the law is the immediate expansion of time limits, or work requirements, with states now required to enforce stricter rules on SNAP recipients ages 18-64 and greater restrictions on noncitizen eligibility. For some, the changes began 9/1/2025, and for others, they will begin 11/1/2025.

How can families affected by neuromuscular diseases prepare for these changes?

Be sure to keep your contact information up-to-date with your state agency and the US Postal Service to ensure you receive timely information about your benefits. Be on the lookout for communications from your state agency about new work requirements. Know that if you have a disability, you may qualify for an exemption. If you see a reduction or end to your benefits, contact the MDA Resource Center for support in locating other forms of assistance. While food banks and pantries cannot replace SNAP (SNAP provides nine meals to every one provided by a food bank), the MDA Resource Center can help you locate forms of food assistance near you. In addition, Hunger Free America operates the National Hunger Hotline, which can connect individuals and families with emergency food providers in their community and other social services (1-866-3-HUNGRY).

Editor’s note: since the publication of this blog, over two dozen states have sued the USDA for suspending SNAP during the government shutdown. As the legal process evolves, join the MDA Action Network to stay up to date on changes to SNAP during this time. 

The post What to Know About Changes to Food Assistance through SNAP appeared first on Quest | Muscular Dystrophy Association.

Read the interview below or check out the podcast here.

Mindy Henderson: Welcome to the Quest Podcast, proudly presented by the Muscular Dystrophy Association as part of the Quest family of content. I’m your host, Mindy Henderson. Together we are here to bring thoughtful conversation to the neuromuscular-disease community and beyond about issues affecting those with neuromuscular disease and other disabilities, and those who love them. We are here for you, to educate and inform, to demystify, to inspire, and to entertain. We are here shining a light on all that makes you, you. Whether you are one of us, love someone who is, or are on another journey altogether, thanks for joining. Now let’s get started.

In honor of National Disability Employment Awareness Month, we’re joined today by a true leader in the field of disability inclusion, Russell Shaffer, Executive Vice President of Strategy and Programs at Disability:IN. Russell’s career spans journalism, communications, and corporate leadership, including his work at Walmart where he advanced global diversity, equity, and inclusion strategies. He now leads key programs at Disability:IN, including the Disability Equality Index, accessibility, supplier diversity, and next-gen leadership. Russell also brings a deeply personal perspective to this work shaped by his own experience with vision loss and by the lasting friendship he shared with a childhood friend who lived with muscular dystrophy. Russell, thank you so much for joining me. I’m so glad to have you here.

Russell Shaffer: Mindy, thanks so much for having me on the Quest Podcast. Thanks for the very gracious introduction and the opportunity to chat with you a little bit today in honor of National Disability Employment and Awareness Month, looking forward to it.

Mindy Henderson: Thank you. It’s a busy month with lots of activity and awareness. You and I spoke on a panel together this morning, which was-

Russell Shaffer: We did?

Mindy Henderson:… kind of an uncanny coincidence, but there’s a lot to talk about. So first of all, I would love to start with that personal connection that I mentioned. You shared that one of your best childhood friends, Josh, lived with muscular dystrophy. How did your friendship with him shape your understanding of inclusion apart from your own disability that you also shared with me, and ultimately influence your life’s work in this space?

Russell Shaffer: Yeah, thanks so much for that question, Mindy. When the opportunity to be a part of this MDA podcast came through to us at Disability:IN, it came my way, and nobody on my team really knew my connection to muscular dystrophy. It just was one of those serendipitous coincidences that I just knew it was meant to be, and it was really an opportunity to draw on the experience that I witnessed with my friend Josh as we were growing up and getting ready to go off to college and enter the workforce, opportunities, or lack thereof for him were very, very different. And so this is just an opportunity for me to really pay homage to somebody who was a really critical part of my life. But Josh and I, we grew up in a small town in Ohio. He was a year younger than I.

And so I would see him in school in the halls. And I remember when we were in elementary school, Josh would walk. And as we got a little bit older and into middle school, he started using a wheelchair. I remember our middle school in town was very, very old and not terribly accessible, but I remember the school district purchasing a special piece of equipment that would help Josh and his wheelchair get up to the second floor of the school where 7th and 8th grade classes were. We didn’t have an elevator in the building, but they made it work. It was a pretty wild contraption as I remember it. It was-

Mindy Henderson: Wow.

Russell Shaffer: … something out of a science fiction movie it seemed like, but it worked, and every day Josh would make his way up there. And the thing that always struck me about Josh is that he just wanted to be in the thick of it with everyone. And I really got to know him when I was in high school. We were in a computer class together, and I think that that was a prevailing theme. I really got to know just what a wicked sense of humor Josh had, which is indicative, I think of a sharp mind. He was brilliant, and he was particularly adept at computers, and in the early 2000s, online and all that went with that. And when we graduated high school, he went and studied computers at one of the local community colleges. And I remember that transition for him from high school, with having an IEP and all of the things, to going to college where accommodating disability at the collegiate level is quite different than at the high school level. And that adjustments and some of the challenges that he faced with access to campus buildings, and with faculty, and just some of the patronizing approach that some of his faculty and fellow students would take to him. But he was there to learn, and he wanted to push himself and perform just like everyone else.

I think the thing that for me is the most disheartening is Josh passed away in 2012 at the age of 33. And a lot of the advances that we’ve made in digital accessibility and work-from-home, AI and all of the things that I think would’ve really closed the employment gap for Josh and allowed him to be able to lean into his deep technology love and his IT education and knowledge he just wasn’t able to fully leverage in his lifetime. And so I think that’s one of the things that makes me so passionate about accessibility, makes me passionate about the advances that we’ve made as a society, particularly post-COVID in remote work, virtual work, and how that helps those of us with disabilities that are transportation constrained especially be able to enter and contribute in the workforce. I know that our workforce today is vastly more inclusive and accessible for individuals like Josh than it was in his lifetime. And my goal is that by the end of mine, it will be even more accessible.

Mindy Henderson:  That’s so beautifully said. And I’ve got to say that by continuing to share his story, you’re doing a real service to his legacy and continuing to have important conversations and create progress. To your point, we’ve certainly made progress in the world of employment for people with disabilities. I think there’s certainly still a lot of work to do, but I think it’s conversations like these that are really making the difference.

Russell Shaffer: Absolutely.

Mindy Henderson: Yeah. So October is of course National Disability Employment Awareness Month. From your perspective, what does NDEAM mean in 2025, and how can we ensure that it leads to real action in the workplace, not just the awareness that I just mentioned?

Russell Shaffer: Yeah, Mindy, you went where I was going to go. I think this is the 80th anniversary of what we celebrate as NDEAM. And I am not 80, though my kids tell me I’m old all the time. I’m not that old, but I have been a part of the labor force as a person with a disability for almost 1/3 of that timeframe. And so I’ve seen a lot of progress firsthand from when I entered the workforce in the early 2000s to now just in terms accessibility, companies prioritizing disability inclusion in terms of culture, policies, processes, companies’ intentional recruitment efforts for people with disabilities, recognizing the differentiated skills that a diverse workforce that includes people with disabilities can bring.

We often say as people with disabilities that we are natural problem solvers. I don’t know if natural is the case, but we are definitely very practiced problem solvers from living each day in a world that’s not necessarily built for us. And I think that that is a transferable skill into the modern-day workforce. I mean, every industry is facing disruption from competition, from technology, from a variety of different angles. And I think the one thing, if you ask most companies what are they trying to do, they’re trying to innovate. They’re trying to innovate so that they don’t become extinct. And I think we as people with disabilities, that adaptation to a non-accessible, non-inclusive world, one that is becoming increasingly so by the day but is still not there, makes us very valuable to a workforce that prioritizes innovation, if they also prioritize inclusion. If we are able to bring our experiences to bear, then we really can help drive the business forward, not only in terms of being able to broaden market reach for other customers with disabilities, but also the talent pool for other potential employees with disabilities. But just also in totality, when you give people the space to be able to bring their whole self to work, when they view a problem and idea differently, they might have the unlock, but they’re not going to necessarily share it if that psychological safety is not there.

That webinar that you and I were on earlier today, one of our fellow speakers talked about FOMU, fear of messing up, which I hadn’t really heard before, but so encapsulates, I think a lot of people with disabilities experience in the workforce. Many of us are grateful and thankful to have been given the opportunity, and we don’t want to do anything to mess it up. So that means we might not take risks, we might not push ourselves. We’re going to try to stay in this little box that we perceive as safe, that has been carved out for us. And ultimately when we do that, we and our employer misses out. And so it doesn’t just go for those of us with disabilities, it goes for everyone, but it goes double for us. When an employer can create an environment and atmosphere where people with disabilities feel that they can strive and fail forward and learn, then you’re going to get the best from us. And we’re going to bring something that the rest of your workforce might not necessarily have, it’s our point of view, it’s our perspective. And what I’ve seen in my 25 years of working is companies are valuing that more from people with disabilities today, Mindy, than they did when I got started a quarter-century ago.

Mindy Henderson: You spoke so much wisdom in that answer that you just gave me, and I think that there’s two sides to employment. There’s hiring, and I would love to know your perspective because you work in the thick of this day in and day out at Disability:IN, but I feel like we’ve heard a lot in the years leading up to present day about inclusive hiring and hiring of people with disabilities, but there’s the other side of the coin, which is really that inclusion or belonging piece once you do make the hire. And I feel like that is a side of the coin that the conversation is maybe just getting off the ground and beginning to evolve, which maybe is indicative of the fact that, like you said, the numbers and some of the statistics that we’ve seen around hiring of people with disabilities, I think we’ve seen the needle move a little bit, maybe not as much as we would like, but maybe that’s indicative of having more people in the workforce with disabilities. And I think that it’s equally important to work on the aspects of your culture once people are in the doors and boots on the ground with you to making sure that they feel safe to be who they are, like you said.

Russell Shaffer: Absolutely. I think particularly drawing on some of my past work in the private sector, to me the simplest definition of culture is the things we all do. And the fact of the matter is that you can have an inclusive culture or you can have a non-inclusive culture, it is your culture. And so for me, I’ve always felt like inclusion is an action verb, belonging is a reaction verb. And so what are you as a leader, or as a peer, as a colleague doing in your everyday behaviors to try to put forward an inclusive environment for the people that you work with, the people who work for you, even the people who you work for in some instances? There’s so much that we can do.

Deloitte published this great study a few years ago that they called the Six Signature Characteristics of Inclusive Leadership. And for Ease, they all start with C. So they make it really easy to remember, but are you committed to this work? Are you committed to inclusion? Do you have the courage to challenge the status quo, to speak up when you see things that aren’t right? Are you curious to expand your learning, to be able to create spaces for conversations that are going to help you grow? Are you cognizant of your own bias? Mindy, on that webinar we did earlier, you talked about bias. We all have biases, even ourselves, even those of us with disabilities, and we have our own internalized biases of.

Mindy Henderson: Course.

Russell Shaffer: So be cognizant of those biases. Are we culturally competent, taking steps to learn language, to learn new ways of thinking, new ways of behaving? Are we collaborative? Are we willing to work with others to source ideas? So all of these things are indicators of inclusive leadership that we can practice in our own behaviors. And then ultimately, and the data shows that the more of these behaviors that are present, the higher likelihood that an employee is going to feel like they belong. And so for those of us with disabilities, do we have a leader who’s willing to stand up and say, “You know what? This meeting, it’s not captioned. Let’s make sure that we’ve got captions on this.” Do you see that your company is committed to disability inclusion by having an employee resource group present? Do you see your colleagues are curious because they engage you in conversation and they want to understand how they can be more inclusive? These things are indicators of an inclusive culture.

It doesn’t happen by accident. It is truly an intentional. And I think one of the things that we see at Disability:IN is there are a lot of companies who are really, really committed to figuring out how to do this right and to be able to create the type of culture inside of their organization where their employees with disabilities can perform at their level best and can feel psychologically safe, and moreover that they are able to attract more employees with disabilities to join their organization because they see the value that a diverse, inclusive workplace brings.

Mindy Henderson: Yeah, truly. And of course, any time you include people, give people a seat at the table with different lived experiences, their perspective is going to be different and they’re going to be able to think of things that you may not have. And so I love just the conversation about diversity and inclusion itself. And those six things that you mentioned, I think are a great list to work from for any company that might be listening that is wondering how they get started. And I think that too, it’s important to mention, and I get this question all the time, is, “How do I even begin? What’s the first step that I can take to creating that inclusive culture?” And I think it’s important to tell people that they don’t have to boil the ocean, so to speak. Just like you so eloquently said, I think you do one thing at a time and take one step at a time. And those things in aggregate become a beautiful organization where you are more competitive and more successful, and your employees really enjoy being there and can lean into who they are.

So the Disability Equality Index that Disability:IN is famous for really, I mean, among other things, but that’s one of them, it’s become a key benchmarking tool for corporate disability inclusion. First of all, I would love for you to talk about it, and for anyone who may not be familiar, help them understand exactly what it is, but also how you’ve seen it evolve, and maybe what some of the promising trends or examples are that show that companies are moving that needle.

Russell Shaffer: Absolutely. Been fortunate to have been involved with the disability index since its inception. When I worked at Walmart, Disability:IN was one of my external partners that I worked closely with. And I remember Disability:IN coming to me and saying, “We want to stand up this benchmark to help companies better understand corporate disability inclusion policies and practices. Is this something Walmart would help support?” And so at the time we did, we were one of the founding sponsors of the disability index and participated in the index in its first year in 2015 along with 79 other companies, there were 80. Participation now a little more than a decade later has grown by more than 6X, 70% of the Fortune 100 who participated-

Mindy Henderson: Wow.

Russell Shaffer:… in the disability index. And so it really has grown and evolve, but fundamentally it is intended to be an objective forward-looking, reflective third-party assessment of disability inclusion policy and practice across the enterprise, from culture to leadership to enterprise-wide access, benefits, recruitment, retention and advancement, accommodations, community engagement and supplier inclusion. We are actually retooling the index for 2026, totally revolutionized and simplified the question sets, the recognition, the scoring for 2026, and we’ll be opening the index for next year on January 7th. And we’ll be sharing a lot of details in the coming week. So anybody who’s interested, please stay tuned to our website, disabilityin.org for a lot more details on the future of the index. But I think the thing that I will say there is that one of the great evolutions of the index over the past few years is that we’ve evolved it from being a US-centric benchmark to a truly global benchmark pilot with seven international countries in the past two years, Brazil, Canada, India, Germany, Japan, the Philippines, the United Kingdom, taught us a lot. And now for 2026, regardless of where a company is in the world, can take the disability index. So it is truly gone global.

But I think, Mindy, back to the prior question, it’s interesting, before we got started you talked about having a little magic in our conversation. And it’s funny, as we were talking about culture on the last question, one of the things that we found with the index that we affectionately refer to as the magic formula, and what we’ve found is that culture and leadership really drive disability inclusion. And what I mean by that is companies that have a disability-focused employee resource group and have a senior leader within two levels of the CEO who is active and visible as an ally for disability inclusion or themselves a person with a disability, those companies are much more likely to have inclusive hiring practices, accommodations, and accessibility strategy and plan, and many of the other downstream policies and practices that are key contributors to a disability-inclusive environment for their employees. But it really starts with that culture. Are you prioritizing that employee network and resource sharing through ERGs? And do you have a leader who’s outspoken and vocal about championing disability inclusion? And so a lot of times companies will want to look at practice or policy as indicative of results. And that’s important, but they’re usually an indicator of something that can often go overlooked, and that’s that leadership and cultural commitment.

Mindy Henderson: Interesting. So I think I know the answer to this, but I’m going to ask it anyway, but to be listed in that index, is that a set of questions that any company can go in and answer the questions and get their scoring, their evaluation and be listed on the index?

Russell Shaffer: Any company that meets eligibility for the index, yes. So eligibility is pretty simple, are you a non-governmental organization with 500 or more employees? If that is the case, then you are eligible to participate in the disability index wherever you operate in the world.

Mindy Henderson: Great. And I love that you shared with us the top two things that you see in the trends that move that needle. What challenges do you currently see, and what kinds of things does Disability:IN do to help companies overcome those hurdles?

Russell Shaffer: I think that one of the things that we’re seeing become an increasingly high priority for companies is accessibility and digital accessibility. And I think there are so many reasons for that, just digital transformation in society in general, but what we talked about earlier with more work being done virtually and at distance, I think prioritizing accessibility and our virtual meeting platforms and how we set up virtual meeting spaces is really, really critical, but then just the proliferation, Mindy, of artificial intelligence. And AI can be such a powerful tool for accessibility and inclusion, but only if it’s designed in a way that supports that. And so companies are just now trying to figure out, “How do we use AI in general for our business operations and productivity across the workforce? And then how do we use it as a lever to drive disability inclusion? How do we ensure that it’s accessible?”

And so that’s one of the things that we’ve been seeing over the past several years with the disability index, is we’ve seen a gradual click-up in the adoption rates of accessible practices across our participating companies. So the companies that have an accessibility policy for their organization has crept up from under 50% five, six years ago to now about 2/3 of companies. And similar progression in the number of companies that indicate that they audit their internal employee-facing products for accessibility. And so the more companies prioritize these things, the more they realize and recognize that they need support to understand how to operationalize that. That’s one of the things that we at Disability:IN are very fortunate to be able to help the companies that we work with be able to move forward on in their journey.

Mindy Henderson: You put on a conference every year, Disability:IN does, and I had the good fortune of attending this year over the summer. And it was an incredible conference for disability inclusion, and the companies that I saw participating and in attendance at the conference was really impressive, but I learned things about Disability:IN that I didn’t know prior to attending that conference, probably one of the takeaways that you hope people would leave that conference with. But I want to talk about two of those things in my next couple of questions because I thought they were really fascinating, and I’d love to know more about the work that you do. The first one is Disability:IN’s Supplier Diversity Program, which helps connect disability-owned businesses with major corporations. What progress have you seen in supporting these entrepreneurs? And what again, can organizations do to expand those opportunities?

Russell Shaffer: Yeah. No, thanks for that question, Mindy. That’s a program that’s near and dear to me. It was actually one of our first signature programs at Disability:IN, our Supplier Inclusion Program turns 15 this year. We are the leading global third-party certifier of what we call disability-owned business enterprises or DOBEs, and that includes service-disabled-veteran DOBEs as well. At the time that this goes live, we will probably have crossed the 1,000 certified DOBE threshold. We are sitting at about 993 as we record today.

Mindy Henderson: Wow.

Russell Shaffer: Yeah, so not only will we celebrate 15 years this year, we’ll celebrate 1,000 certified small businesses. And most of these know DOBEs that we are working with are small businesses. They meet that qualification of a small business, and they’re working on a whole host of things. More than 90% of them are doing B2B type of work, goods not for resale or professional services, training, marketing, legal consulting, et cetera. We do have some of our DOBEs who do consumer products. And we publish a DOBEs gift guide each holiday season. As the holidays are coming up, keep an eye out for that on our website and shop disability owned. But most of our DOBEs are looking to do business with government contractors, with the private sector, and bring a whole host of skills and expertise and products to bear for businesses. And so any procurement professionals out there, anyone who works in talent development inside of companies, please look at our DOBE database, reach out to us at Disability:IN through our website, or to me, [email protected], love to get you connected with these DOBEs.

And these business owners collectively have a tremendous economic impact. Those 1,000 DOBEs we are publishing this month, our 2025 DOBE impact study, Mindy, where we found that collectively those 1,000 DOBEs account for nearly $3 billion in total revenues [inaudible 00:31:55].

Mindy Henderson: Wow.

Russell Shaffer: 21,000 individuals across those 1,000 DOBEs. And moreover, as one would expect, to be disability-owned business enterprise, 51% owned, operated and managed by a person with a disability. And so people with disabilities, we are more likely to employ other people with disabilities. Our DOBEs, 82% of them employ people with disabilities at a rate higher than the median for disability employment, which is 4%.

Mindy Henderson: That’s fascinating. What is the process like to become a DOBE?

Russell Shaffer: A certification process. And so usually it takes anywhere between 30 to 60 days, entails completing an application that includes operating documents, articles of incorporation. Because we are certifying you as a disability-owned business, we do ask for documentation about your disability as well as other business documentation. And then we’ve got a certification committee that reviews all of those documents and makes recommendations on whether to certify or not to certify. Our certification rate is well over 95%. Most of our companies who get through the application process for certification do get certified. If this sounds like you out there, if you’re an entrepreneur with a disability, and your business is 51%, so majority owned, operated and managed by you and/or co-owners with disabilities, come our way. We’d love to help certify your business and expand your market.

Mindy Henderson: I love it. I love it. And obviously these are companies that are doing exactly what we’re talking about here today. The next program that I want to talk about, I also thought was very cool when I heard about it at the conference, the NextGen Leadership Program is helping young professionals with disabilities launch successful careers. When I was starting my career six months ago… No, a little longer than that ago, I had great role models in business and things like that, but I didn’t have anyone who told me how to be a disabled professional, and how to thrive in that environment with the stigmas and things that I was going to come up against. And so I loved hearing about this program. Is there a story that comes to mind that captures the spirit of this program and the change that it’s driving?

Russell Shaffer: Yeah, this is another one of our programs that means a lot to me. This one has been around, the NextGen Leaders Program, for more than a decade, 12 years now. And Walmart, once upon a time when I was there, helped fund the NextGen Leaders Program through the Walmart Foundation. So it’s a program I’ve been tracking for a very long time. The first year of the program we had 20 NextGen Leaders. This year we had a record-sized class of 438.

Mindy Henderson: Wow.

Russell Shaffer:  And so yeah, each of those 438 individuals are a college student or recent graduate with a disability, all types of disabilities. And they have educational and career-aspirational backgrounds from business to finance, STEM, communications and more, but a lot of STEM. And that’s really driven by what our disability and corporate partners are looking for in employees. So each one of those 438 individuals is matched with a mentor from one of our disability and corporate partners, and they have a six-month virtual-mentoring relationship. And the goal is to help get them job ready, to get them ready to enter the workforce with the durable skills that they need to be able to get that first job and to succeed once they do.

And Mindy, I think you’re absolutely right. As I shared at the outset, I’ve been in the labor force for about 25 years, graduated college in 2001, viewed myself as part of that first wave of post-ADA people with disabilities entering the workforce. And yeah, I didn’t have role models with disabilities to look up to and to ask questions of, to get counsel from on how to navigate the workforce as a person with a disability. I would’ve loved for something like the NextGen Program to have existed when Josh and I were in college and coming out of college, it would’ve made a huge difference, but today, we’re able to provide these talented young people with that mentorship and that access to employers.

You asked for a story. We are right in the midst of recruitment for our 2026 NextGen Leaders Program right now. And so please check out our website if you are a college student or recent grad with a disability, or you know somebody who fits that bill, we’re accepting applications through December 5th for our 2026 program, which we’ll launch in January. And looking at our collateral for this year’s program, I was reading a story of one of our recent program alums who got plugged in with the program in 2024 as a NextGen Leader, came to our conference as part of our NextGen Talent Accelerator, met a recruiter from one of our disability and corporate partners and was hired for an internship that concluded this past summer. And at the end of that internship, they were invited back for that company’s development and fellowship program in 2026.

Mindy Henderson: Wow.

Russell Shaffer: And so countless stories like that. We have tracked more than 100 job offers to NextGen Leaders and NextGen alums this year alone and counting, more than we tracked last year. And that was more than we tracked the year before, which I think goes back to what we talked about before, many companies are committed to hiring talent with disabilities. And when we create opportunity for access and for application and for recruitment, these talented people are doing the rest. They’re landing the jobs and they’re crushing it when they do. And so the NextGen Leaders Program is one where we just love to see those success stories each and every time, because it changes the trajectory of somebody’s life and their career.

Mindy Henderson: Incredible. And I think it’s really powerful to think that you have that many people also, not just the new professionals that are up and coming as part of this program, but that you have that kind of volume of organizations, companies, people wanting to be mentors to the 400 people that you talked about. I think that that’s really incredible.

Russell Shaffer: I mean, yeah, to have 438 NextGen Leaders, that means we need to have 438 corporate mentors doing these one on one. And yeah, those 438 mentors are coming from nearly 200 different companies, Mindy.

Mindy Henderson: Wow, that’s incredible. You should be really proud of that, that’s incredible. Accessibility is one of Disability:IN’s core pillars. How are you helping organizations see accessibility as more than compliance, helping them see it as an innovation opportunity that really benefits everyone?

Russell Shaffer: Yeah, absolutely. I think this is one, for me as somebody who’s blind, there is no inclusion without accessibility. And so we like to say at Disability:IN that accessibility is at the intersection of everything, and accessibility technology can be a barrier or a bridge to inclusion depending upon how it’s developed and deployed. Accessibility is how we can navigate the barriers on that bridge to a more inclusive workforce. Accessibility really unto itself is innovation, but it unlocks innovation, and it opens up the market. We often like to talk about universal design as a way in which we can ensure that all people have equal access and are afforded opportunities to participate in the physical or the digital space. And we like to point to the curb-cut effect as an indicator of that. So when we think about those sidewalk curb cuts that everybody is familiar with, I think, Mindy, the residents in the MDA community especially is we know that those curb cuts were originally put there specifically for individuals in wheelchairs, to help them navigate city streets effectively and safely. But today, they’re used ubiquitously by anybody who’s operating something with wheels, a bicycle, a scooter, a baby stroller, a dolly, a piece of luggage. They benefit anyone and everyone who’s using something on two wheels, but that’s not who they were created for.

And so when we design intentionally in a way that includes people that have historically been marginalized or left out, we create a demonstrably better experience for everyone. One person’s access is another person’s convenience. And so similarly with websites, repeated studies have shown that the user experience for all users is increased on websites that are accessible and designed in a way that is inclusive of people with disabilities, that takes into consideration web content accessibility guidelines. And so when we shift left in our design-thinking organizations, and ensure that the edge cases are no longer on the outside looking in, but they are considered in every facet of the design process, and people with disabilities are involved in product development and testing, we’re going to get a better, more inclusive product that’s accessible for people with disabilities. But moreover, we’re going to get a product that is going to be more applicable and utilitarian for all users, all consumers, regardless of disability.

Mindy Henderson: Well said.

Russell Shaffer: When you say that to a business, it’s, “Where do I sign?”

Mindy Henderson: No kidding.

Russell Shaffer: Because they recognize the market reach and potential value of what they’re creating goes up.

Mindy Henderson: Yeah, and boy, I love that you mentioned universal design, because man, I don’t understand why universal design is not more of a prevalent factor in so many ways in our built environment and product development and in a lot of different ways, there are ways to design to include everyone that don’t detract from anyone else’s experience. For me, it’s a no-brainer that this would be the way that organizations, companies, city planners, you name it, architects, would operate. And I know we’re getting there, but I love that you mentioned it.

Russell Shaffer: Absolutely. What I would say too, to put a fine point on that, Mindy, your prior question was like, “What is the case beyond compliance?” And so I’ll just kind of circle back to that. Compliance is a very real and tangible thing that businesses have to consider. And so when you do not prioritize universal design, and then compliance comes a knocking, you’ve got a retrofit after the fact. And that costs money. It costs on average 10 times more to retrofit something, to make it accessible after the fact, than if it was born accessible from the outset. And so not only do you get all of those benefits that we talked about before with universal design, you circumvent compliance come a knocking and having to retrofit, which is going to cost more to the bottom line than if you would’ve just prioritized accessibility in the first place.

Mindy Henderson: So very true. I’m glad you followed up with that. I seriously could talk to you for the next six hours, you have such great knowledge and advice. It’s rare to have a conversation like this where I think the people who are listening can take away very tangible ideas for how to transform what they’re doing. Beyond numbers in terms of DEI and measuring inclusion and belonging, what metrics matter the most, do you think, in creating sustainable progress?

Russell Shaffer: I think that there are metrics that every company can measure, many do, not necessarily metrics that we at Disability:IN measure, but that we would encourage our companies to look at. And at the end of the day when we’re talking specifically as it relates to disability inclusion from an employment perspective, as it is National Disability Employment Awareness month, what are your employees saying about their experience? And almost every company is doing employee engagement, whether it’s annually, whether it’s quarterly through little pulse surveys, what have you, but paying particular attention to employee engagement and sentiment, and then segmenting that by disability, which requires you to know who in your workforce is a person with a disability.

And so to again circle back to our webinar from earlier, that means you’ve got to have a self-identification campaign. You need to have your employees confidentially and voluntarily self-identifying that they are a person with a disability. And then ultimately you need to enrich that sentiment and engagement data with that disability-representation data to understand what is the employee experience of your employees with disabilities, and what are those drivers telling you? So what is their intent to stay? What are they telling you? Are they telling you they are actively looking for another job at a rate above, below, or similar to the rest of your workforce? What’s their referral behavior? Are they telling you that they are more inclined, less inclined to recommend your company as a place to work for their family and friends?

And so these are really clear, high-fidelity indicators of the health of your organization at large, but specifically when you put that disability-inclusion lens on there. Listen to your employees, they’re going to tell you how you’re doing. And if it looks like that employee engagement amongst your employees with disabilities is lagging, then reach out to your employee resource group, presuming you have one, create listening sessions, do some more targeted focus group and listening to understand where the disconnect is from policy and process and practice. But your employees are going to tell you how you’re doing, you just need to listen.

Mindy Henderson: So true. We’re almost out of time, but I have two more questions that I would love to ask you. You’ve spoken candidly about your own experience with retinitis pigmentosa and how it’s shaped your approach to leadership. What insights have you gained about adaptation, resilience and purpose through your own journey?

Russell Shaffer: Yeah, there’s a lot. We might chew up a lot of those six hours that you mentioned a minute ago, Mindy [inaudible 00:49:23].

Mindy Henderson: I have the time if you do.

Russell Shaffer: I do. I think what I will say is perhaps something that’s your listeners might not expect me to say, is we’re recording this podcast, we’re a few days removed from World Mental Health Day. I think when people meet me or learn about me and my disability, I think the presumption is, oh, I’m engaged with this work because I’m blind, because I lost my vision. And that is predominant, but there are other reasons. There’s my relationship with Josh that I mentioned earlier, but both my parents had disabilities. My mom lived with epilepsy my whole life, and my dad was diagnosed with type 2 diabetes when I was still in school. And so I saw a disability from a different perspective with them.

But for me, there’s so many of us who have acquired disabilities or disabilities progress over time, physical, sensory disabilities, there is a mental health component to that. To be told at 10 years old that you’re going to go blind one day, and then for that diagnosis to come true later in life, to discount that there’s going to be a mental health component to that is really discounting the human experience overall. And so for me, to tell people, Mindy, the most disabling thing that ever happened to me wasn’t losing my vision, it’s what losing my vision did to me emotionally and psychologically. So we’ve talked about it a lot here with accommodations, with accessibility, for my disability in particular, whether it’s a light cane or whether it’s a service animal, whether it’s a screen reader, whether it’s some other piece of assistive tech or technology, there are so many things that exist today that help us close the productivity gap as people with disabilities. But ultimately, none of those things matter if you don’t want to get out of bed in the morning and face the world.

And I found myself at a point like that in my life as I was losing my vision much more rapidly and aggressively than I expected to. Doctors told me when I was a kid, I’d go blind in my 40s or my 50s. I went blind in my late 20s, early 30s. I knew I was going to go blind, I just wasn’t prepared for when I did. And I didn’t have the tools and the training that I needed in order to be able to navigate the rest of my life. And it just so happened I was smack dab in the early stages of my corporate career, I was newly married, and my wife and I had just welcomed our first child. And so there was so much that I was challenged by and struggling with that compounded my mental health.

And so fortunately, I worked at an employer that prioritized supports. I was able to leverage an employee-assistance program and speak to a mental health counselor, and be able to get the support that I needed to be able to proceed with my life and live it to the fullest. So any and every opportunity I get, I don’t ever want to discount the mental health part of my experience, but recognize that for many of us in the disability community, our disability identity begins and ends with mental health. And so the more we can do to break the stigma around mental health, to normalize comments like those that I just made, and ensure that it’s okay and safe for people to be able to say those sorts of things to me, it’s not a hyperbole to say it can save lives.

Mindy Henderson: 100%. And it’s such an important component for so many of us in this community, I’m so grateful to you for sharing that. As we wrap up, what is your message to employers, educators, and community leaders this National Disability Employment Awareness Month? How can each of us contribute to a future where disability inclusion is woven into every aspect of work and entrepreneurship?

Russell Shaffer: Yeah. So for me, Mindy, it’s what I like to call the three L’s, listen, learn, and lead where you’re at. So create spaces where people with disabilities feel psychologically safe to share, to disclose. You’ll be curious, appropriately so. Don’t tokenize someone or put them on the spot or expect them to speak on behalf of anyone and everyone with a disability or their particular disability. Give them the space to speak from their own experience. And then listen actively and respond with empathy, and with action when action is merited. And then take action yourself to learn. Back to biases, bias is all a result of our experience and our exposure. And the great thing is we can retrain our experiences and exposures time and time again. So if disability is not a part of your knowledge base or lived experience, then go read a book or listen to a podcast that features a person with a disability. Watch dramatized shows that accurately, authentically and affirmingly portray disability. And learn through consuming media that is created by or appropriately represents people with disabilities in a variety of environments and settings, including the workforce.

And then finally, lead where you’re at. So often we want to make the big, grand gesture, and we don’t know how, or we don’t have the opportunity. As a baseball fan, my Cleveland team went out, but I love to talk about baseball. And so the analogy I use is don’t swing from the fences when a single will do to get the runner in from third. So put another way, I had a leader who used to talk about tiny noticeable things, or TNT, just like a stick of dynamite, it’s small, but it has a big impact. And collectively, if we all do little things, incrementally they’ll add up to one big collective impact. And so lead where you’re at. Take the opportunity to learn and listen wherever and however you can.

Mindy Henderson: Well, that’s about the best note I can think of to end things on. Russell, thank you so much for your time and for sharing your wisdom and your experience with us. We’re going to put all of your information in the show notes so that people can connect with you and keep an eye on Disability:IN, and potentially participate in some of your programs. Thank you for being here with me today.

Russell Shaffer: Thank you so much for having me, Mindy. I look forward to seeing you at our Disability:IN conference, your second one, in Dallas next July. And anyone, everyone, come one, come all, we’d love to have you.

Mindy Henderson: Thank you for listening. For more information about the guests you heard from today, go check them out at mda.org/podcast. And to learn more about the Muscular Dystrophy Association, the services we provide, how you can get involved, and to subscribe to Quest Magazine or to Quest Newsletter, please go to mda.org/quest. If you enjoyed this episode, we’d be grateful if you’d leave a review, go ahead and hit that subscribe button so we can keep bringing you great content, and maybe share it with a friend or two. Thanks everyone. Until next time, go be the light we all need in this world.

The post Quest Podcast: Voices of Inclusion: Celebrating NDEAM with Disability:IN appeared first on Quest | Muscular Dystrophy Association.

Creating recipes and learning how to cook soon consumed her days. “I was cooking so much that I fell in love with it,” Gabby says. During one sleepless night in 2020, Gabby realized that starting a blog was the perfect opportunity to share her love of cooking and advocacy. She even thought of a name: Cooking on Wheels.

Gabby appeared virtually on the Rachael Ray Show to demonstrate adaptive cooking.

“I was already sharing most of my recipes with friends and family, and I was like, I might as well start posting them,” says Gabby, who now has fans on Instagram, TikTok, and Facebook.

At the age of 16, Gabby fed her newfound passion by taking online classes through the Food Network’s New York City Wine & Food Festival. During the virtual lessons, Gabby had the chance to submit questions to daytime TV talk show host Rachael Ray, who was one of the instructors. In 2020, when the Rachael Ray Show celebrated its 2,500th episode, she invited Gabby to appear on the show remotely. In 2023, Gabby made another virtual appearance on the Rachael Ray Show, this time from the University of Connecticut (UConn), where she was a freshman.

The exposure Gabby garnered from the television appearance and her social media led her to teaching cooking classes. She’s taught classes open to the community at College of Staten Island in New York and provided virtual instruction to adults with developmental disabilities in Canada.

Now a senior at UConn, Gabby is majoring in Disability Studies in Media and Food Culture and hosts a cooking show on the student-run television station. She is the first student with a disability to have a show on UCTV. (Watch episodes at youtube.com/@TheUCTVchannel14.)

Gabby also works as a kitchen assistant at UConn, which gives her the opportunity to learn from culinary professionals and gain valuable experience in a professional kitchen.

Gabby’s adaptive cooking hacks

Gabby and hosts a cooking show on her college TV station.

MFM causes weakness throughout the body, and Gabby’s muscles are approximately 16 times weaker than those of an average adult. Fortunately, Gabby knows that a chef doesn’t have to do 100% of the work themselves and it’s OK to ask for help. For example, if she needs to use a heavy pot, she doesn’t hesitate to ask someone to lift it for her.

Gabby chooses mobility equipment to fit her kitchen environment. When she needs to maneuver in tight spaces, she uses a compact manual wheelchair. In roomier kitchens, she uses her power wheelchair with an elevating seat, which gives her a better view of the stovetop.

Gabby also experiments with cooking techniques and tools that work with her physical abilities. For example, after boiling pasta, she removes it from the water using a slotted strainer (a spoon with holes) instead of lifting the pot and draining it in a colander. Because this takes a bit longer, Gabby cooks the pasta al dente (firm when bitten).

Conserving energy is a priority for Gabby. Simply chopping food can overwork her shoulder, so she frequently cooks with precut frozen or fresh ingredients. Instead of mincing garlic cloves, Gabby substitutes garlic paste, which comes in a tube and is easy for her to squeeze.

Advice for home cooks

Gabby promotes her brand, Cooking on Wheels.

Gabby recommends finding tools and shortcuts that help make cooking less strenuous for you. Here are some ideas:

• If standing to prep food is tiring, sit down to do the chopping and mixing.
• Look for easy-to-hold kitchen tools from brands that specialize in ergonomic design, such as OXO.
• For wheelchair users, it can be difficult to get close to the stove with no knee space. Instead, use a portable cooktop on the kitchen table.
• If it’s difficult to lean over an oven, use a toaster oven on the countertop for baking and broiling.
• Expand your cooking repertoire with other small, countertop appliances, such as an air fryer or slow cooker.

Representing the disability community

Through her cooking, Gabby hopes to be an advocate for the disability community by demonstrating adaptive cooking techniques. Her dream job is hosting her own cooking-based talk show (à la Rachael Ray), where she would invite guests who have disabilities or work on disability-related projects.

Gabby wants to share her knowledge and enthusiasm for cooking with others. “My motto is, ‘Anyone can cook,’” she says.

Holiday Cooking Tips

The holidays are a special time for gathering with friends and family — usually around a meal. To handle the holiday cooking, Gabby teams up with her mom. They prepare as many dishes as possible in advance and freeze them.

Here are a few more strategies to make holiday food prep more fun and less stressful:

• Let others contribute to the meal. Ask guests what they are bringing so you can coordinate oven space, serving dishes, etc. You could also ask guests to bring a slow cooker and extension cord to help keep dishes warm.
• Guests who do not cook can contribute by bringing a store-bought fruit plate or dessert, ice, storage containers, or paper products.
• Forgo the fancy dinnerware and use paper plates and cups for easy clean up.
• Let guests assist with hosting. Assign tasks to friends and family members, such as attending the drinks counter, setting the table, cleaning the kitchen, and packing up leftovers.

The post Cooking with a Disability? Yes, Chef! appeared first on Quest | Muscular Dystrophy Association.

Faith in front of the Washington Monument.

This year I am going to be part of MDA Hill Day, and I think it’s an important opportunity. Hill Day is when people from the MDA community meet with lawmakers in Washington, D.C. to talk about what matters to us. It’s a way to make sure our voices are included when decisions are made about healthcare, research, accessibility, and other things that impact people living with neuromuscular diseases.

Sometimes I think people don’t realize how much our voices actually matter—especially people with disabilities. That’s why this is so important, so lawmakers can really see and understand us! When they hear directly from people like me, it makes a difference in how they understand the challenges we face and the changes we need.

I’m glad that I have the opportunity to do this because advocacy is something I’ve learned to value. Over time, I’ve realized that using your voice is one of the strongest ways to create change. Even small actions can make a big impact, and I’ve learned that when you share your story honestly, people listen.

Speaking up at school

Faith at the US Capitol.

One way I’ve practiced using my voice is at school. This year, I ran for Class President of my freshman class and was elected. I didn’t run just for the title – I wanted to represent my classmates and make a difference. Being Class President has shown me that people listen when you speak up and lead. It taught me that my ideas can matter not just for me, but for everyone I’m representing.

That experience is part of what makes me feel ready for Hill Day. If I can represent my class at school, I can also represent my community in conversations with lawmakers. Running for President helped me realize that leadership isn’t just about giving speeches or making decisions – it’s about making sure people feel heard and included. Even small actions, like asking for input or listening to suggestions, make a difference.

Lessons from MDA Summer Camp

MDA Summer Camp has also been a big part of how I’ve grown as a leader. Camp is fun, but it’s also where I’ve learned how powerful it is when people share their stories. I’ve talked with friends about what we go through, and I’ve seen how those conversations build connection and strength.

Faith headed to MDA Summer Camp.

Camp showed me that our voices matter not just for ourselves but for each other. That’s a lesson I want to carry into Hill Day – because when I speak up, I’m not only sharing my story, I’m sharing the voices of the larger MDA community. Seeing other people speak about their experiences also motivates me to speak clearly and honestly. It reminds me that advocacy is not just about asking for help, but about showing the world what life is really like.

Why advocacy matters

Advocacy matters because lawmakers don’t always know what it’s like to live with a disability. They might make decisions without realizing how much those decisions impact people like me, my friends, and my family. Speaking up gives them a chance to hear from us directly.

But advocacy isn’t only about Congress. It happens every day, in smaller ways – like standing up for what’s fair, not being afraid to stand up for yourself, and not being scared to use your voice for what you need help with. Those everyday moments prepare us for bigger opportunities like Hill Day. I’ve noticed that every time I speak up, even in small ways, I feel more confident and more capable of handling bigger challenges.

What I want to share

At Hill Day, I want to make sure lawmakers understand that people with disabilities have goals, dreams, and plans for the future. Their choices – whether about research, funding, or accessibility – play a role in helping us reach those goals. I also want them to understand that living with a disability doesn’t mean we don’t have big ambitions. We want to go to college, have careers, travel, and live full lives just like anyone else, and the right support makes that possible.

I also want to show others that everyone can be an advocate. People in our community live these experiences every day, and our voices should be part of the conversation. Even if we’re not the ones passing laws, we can help lawmakers understand the real-life impact of their decisions.

Looking ahead

Faith with MDA Summer Camp volunteers.

I’m looking forward to Hill Day because it’s a chance to represent more than just myself. It’s an opportunity to stand up for everyone in our community. My experiences have taught me that using your voice can make a difference. Every story matters, and even small details about our daily lives can help people understand what we need.

Hill Day is about being honest, sharing your story, and making sure people in power actually hear what matters to us. I’m ready to be part of those important conversations and to keep learning how to use my voice to create change.

The post MDA Ambassador Guest Blog: Why I am Speaking Up for Our Community at MDA Hill Day appeared first on Quest | Muscular Dystrophy Association.

Both of my brothers played sports, and my parents made sure that I wasn’t any different. Through their prompting, I was introduced to the love of my life one Saturday morning when I was 8 years old: wheelchair basketball.

Brayden ‘s 2025 basketball picture

It wasn’t love at first sight, and honestly, I wasn’t very good, but I kept on going. I’ve been playing for 8 years, and I finally can say, I’m pretty skilled. The majority of disabilities that I had seen represented in adaptive sports were mostly people with amputations and spinal cord injuries. I had not seen many people with a disability like mine, and neither had my coaches. I had to learn A LOT. I had to figure out my own playing style, how to catch with limited feeling, how to shoot with limited arm strength, and how to deal with the fatigue.

During my freshman year of high school, I joined the track team and found I had a natural talent  (for the first time ever). My first year on the team I won my first state championship in track and field, and I have won five more since then. I also started competing nationally, and my current medal count includes: one gold, two silver, and two bronze. These achievements are pretty cool, but what they did was even cooler. Sports have helped me accept my disability and have changed my identity from disabled to an athlete. For the longest time, I identified as an athlete but was labeled as disabled. Now, people know I’m an athlete. An elite one. People call me “state champ,” not “hot wheels”, and it makes me feel amazing that people know my identity.

In my sophomore year, my school district decided to start a wheelchair basketball team. I had already been playing for seven years, and the other players had never played. So, in the middle of my basketball season, I went from player to player/coach. I loved it. I discovered my true passion: being a mentor and sharing my knowledge. It didn’t just make them better; it made me better. I became a better ball handler, a better passer, a better leader, and a better team player. As a bonus, I have a group of kids who LOVE me and are my biggest supporters.

Throughout my experience I’ve learned a lot, and I’ve found some of the keys to success. Be an advocate, know your own limits, and don’t be afraid to try.

Be an advocate

Brayden setting the current State record for the adaptive 100m dash, winning his 6th state championship

Advocacy is a skill that anyone with a disability truly has to master. In adaptive sports, it is still vital. Many sports may not have opportunities in your area, and you may have to push for them. It may be something as simple as asking to practice with an able-bodied team. No matter what, you can’t be afraid to ask and explain. Many people are uneducated about disability but truly care about others and want to help you along the journey – they just need to be guided. The sad fact is that if you don’t say anything, nothing will happen.

And while playing adaptive sports, it is important to be an advocate for yourself and your needs on the field. Others may not understand your disability, your needs, or your limits until you explain them – which leads me to my next point.

Know your disability and your limits

Knowing your disability is such a valuable skill. When I started playing, my coaches often had no clue what all my disability entailed. If you don’t communicate what your abilities and limitations, they may expect things from you that you can’t do. For example, my disability causes me to fatigue very easily, so I can’t play a whole game and still maintain my energy and well-being. I had to explain this to my coaches so that they could accommodate my body’s needs.

Nobody knows what’s going on inside of your body, except you. So, if you feel too fatigued, or you can’t do something, you have to communicate that. You have to know where your limit is, so you don’t push past it and possibly harm yourself.

But equally important to understanding your limits is recognizing your abilities. You can do – and play – anything, if you just give it a try!

Don’t be afraid to try

Brayden at the 2025 Move United Track Nationals

The hardest part of adaptive sports is getting started; whether it’s cost, finding a team, or even just overcoming fear about trying something new for the first time. The first step is to try to find a team or program near you — you can find many on the NWBA’s (National Wheelchair Basketball Association) website, Move United’s website (which is an organization that covers multiple sports), or through Quest’s Guide for Getting Involved in Adaptive Sports. Most organizations have programs where you can go to a practice, try-it clinic, or another experience just to test it out; and you can usually borrow the equipment needed for that sport.

I’ve tried A LOT of sports, including: wheelchair basketball, adaptive track and field, wheelchair rugby, quad rugby, boccia ball, swimming, power soccer, and a few other sports. Many of which I never expected to like, but I did. I never expected to like wheelchair basketball, and now it’s a huge part of my life. You may NEVER expect to like any sport, but you don’t know until you try.

The community of adaptive sports is so special and has some of the least judgmental people that I have ever met. Even if you don’t like the sport, by trying it – you may just find an amazing community of people with a variety of different disabilities and talents who will empower you.

The post MDA Ambassador Guest Blog: How Adaptive Sports Changed My Life appeared first on Quest | Muscular Dystrophy Association.

With so many valuable podcasts, blog articles, and magazine articles available to our audience, chances are that you may have missed one or two pieces of interesting content. Check out the summaries and links below.

In case you missed it… Quest Blogs:

MDA Ambassador Guest Blog: Life Lessons from My Service Dog (and Best Friend)

Community Voices: Disability is Not a Disappearing Act

In case you missed it… Quest Podcast:

Episode 56: Precision Medicine – Mapping the Genetic Code for New Treatments

In this Quest Podcast episode, we chat with Dr. Stephan Züchner, Dr. Conrad “Chris” Weihl, and the Interim Chief Research Officer of the Muscular Dystrophy Association, Dr. Angela Lek.  Leaders in the field of genetic mapping, all three have devoted their time and expertise to research and treatments for neuromuscular diseases.  Their goal is to map the genome for neuromuscular diseases, develop successful treatments, and ultimately find a cure for those effected by neuromuscular diseases. These specialists join us to share their experiences, expertise, and advice. Listen here.

In case you missed it…Quest Magazine 2025 Issue 3, Featured Content:

Neuromuscular Disease Research: Going Strong

MDA was founded on the hope for a better future for people with neuromuscular diseases. 75 years later, we continue to drive progress. Here, we take a look back through the decades at MDA’s impact on NMD research, hope in action through a continuously developing treatment landscape, and how we are building momentum as we look forward to the future. Read more.

The post In Case You Missed It… appeared first on Quest | Muscular Dystrophy Association.

Companies with corporate matching programs offer to match, and sometimes exceed, individual charitable donations made by their employees. “Employer matching helps provide an impressive impact with little friction. From a business perspective, it’s an investment with outsized return – both in terms of community good and employee engagement,” says Kyle Francis, the Founder & President of Professional Transition Strategies (PTS). “From a cultural standpoint, it reinforces that we value what our people value. When leaders step up to match, it sends a powerful message about shared purpose.”

Kyle Francis, Founder & President of Professional Transition Strategies (PTS).

PTS is a Colorado based private dental practice transition advisory firm. The agency helps dental practice owners navigate the process of buying and selling practices or successfully finding a strategic partner. Their goal in business is to help others grow, succeed, and build a legacy – and that goal is paralleled in their commitment to community and philanthropy.

A man with a mission

For Todd Sheets, a Practice Transition Consultant who has been with PTS for three years, that commitment has significant meaning. As a long-time donor to MDA, Todd’s passion for MDA’s mission stems from his familial experiences with neuromuscular disease. With multiple generations in his family impacted by myotonic dystrophy, Todd values the opportunity to contribute to funding research and supporting a mission that provides hope for future generations.

“Throughout my life, I’ve seen firsthand the challenges and strength of the neuromuscular community,” Todd says. “MDA has been a source of support, advocacy, and hope. Donating each year is my way of giving back and standing behind the mission to fund research and care.”  And when Todd learned of his company’s matching program, he jumped at the chance to increase support for that mission.

The culture of giving at PTS not only provides additional financial support to the causes that are important to its employees, but it also creates an environment where employees feel supported and community is paramount.

“We’ve built our company on the pillars of trust, integrity, adaptability and excellence. Those same principles guide our philanthropic efforts. We empower our team to give back in ways that are meaningful to them, and we match their generosity because we believe in amplifying their impact,” Kyle says. “When someone on our team supports a cause close to their heart, like Todd does with MDA, we want to stand beside them – not just in words, but in action.”

Exponentially increasing impact

When looking strictly at the numbers, employer matching doubles the impact of a donation. Progress, breakthroughs, and hope itself are increased with every dollar donated to MDA’s mission. The value and impact are undeniable. However, the impact of employer matching is multi-fold and goes beyond the dollars and missions.

When employers value philanthropy and making a difference in the lives of others, especially causes that are important to their employees, it creates a unified commitment to community and signals that their employees’ values matter. Additionally, matching programs can help motivate employees to take philanthropic action as they see the value of giving exemplified within their own company.

Todd Sheets, Practice Transition Consultant at PTS.

“When companies back the causes their people care about, it deepens employee appreciation and loyalty – and it shows real alignment between mission and action,” Todd says. “I believe that philanthropy and community support helps connect us to something bigger than ourselves. At PTS, we often talk about legacy. That applies not just to businesses, but to the lives we impact along the way. Giving back creates a domino effect, and I want to help be an agent of positive change. When people see their peers or companies contributing, it normalizes and stokes generosity. I think the people that live with that sort of abundance tend to live happier lives.”

Kyle echoes that sentiment, pontificating on the premise that philanthropy is truly much more than giving money. “It’s about standing for something beyond profit because it connects people to a shared sense of purpose. My team and I at PTS have seen how even modest donations – especially when matched – can scale into something significant,” Kyle says. “I also think that supporting our team in giving back isn’t just about being a good steward. It’s good leadership because it sets the tone for how we want to operate and our core values.”

Employer matching programs provide an impressive impact for the missions that they support, doubling the donation and doubling the impact. Kyle and Todd also believe that it’s an investment whose return is outsized both in terms of community good and employee engagement. At PTS, the employment matching program reinforces what they value and what their people value.

Cultivating a culture of giving

While many companies currently offer matching programs, those who don’t have these programs in place may be open to embracing the idea. Todd’s advice to anyone who is interested in approaching their own employer about creating a matching program is: don’t assume the answer will be no. If your company doesn’t have a formal program, your approach could be the first step towards starting one. He advises others to reach out to their HR managers to make the ask. He says to let your employer and company know why it matters to you. Sharing why the cause matters to you and the kind of impact your donation – and their match – could make is a powerful way to get your employer to consider your proposal.

Kyle advises those interested in approaching their employers about a charitable matching program to lead with their personal connection to the cause, sharing why the cause matters to you in a clear and simple ask. Noting that most business leaders want to support their teams, he urges others to start the conversation that just might spark a lasting program. And in addition to fulfilling the desire to support their employees, matching programs also help facilitate the development of a purpose-driven business and culture of good.

“It’s one of the most meaningful and efficient ways to build culture,” Kyle says. “Matching shows your team that you care about more than the bottom line. It boosts morale, strengthens retention, and helps define your company’s identity in the eyes of both your employees and the community. We built our charitable matching program because we want our team members to feel empowered to give back and care deeply about the causes that matter most to them.”

“Todd’s ongoing commitment to MDA is a powerful example of that. When someone on our team makes a personal investment in a deserving cause, we want to support that generosity and amplify it,” he continues. “Matching is one way to say, “We see you, appreciate you, and stand with you.”

And for Todd, the impact of both his donations and PTS’s matching donations to MDA is undeniable.

“I’ve seen the progression in both the research and the support networks through MDA. As a family affected by muscular dystrophy, we’ve felt the support firsthand,” Todd says. “I know that PTS and I are helping play a role in advancing treatment that will help change lives.”

The post Employer Matching Programs Double the Impact appeared first on Quest | Muscular Dystrophy Association.

Owen Kent

When I first started my company, Assistive Technology Development (ATDev), my goal wasn’t just to create another piece of equipment. It was to solve a problem I knew firsthand. As a person with spinal muscular atrophy (SMA) Type II, and a lifelong wheelchair user, I’ve experienced both the frustrations of inaccessible products and the life-changing impact of thoughtful design. Those experiences became my blueprint for building solutions that aren’t just functional, but liberating.

Entrepreneurship can be challenging for anyone, but living with muscular dystrophy means I’ve been training for it my entire life. Problem-solving is second nature when your daily routine requires constant adaptation. The same resilience that gets me through a day of logistical hurdles also fuels my business. Every time I figure out a creative workaround in my personal life, I’m reminded that innovation is born from necessity.

Breaking stereotypes about disability and leadership

Society often has a narrow view of what people with physical disabilities can do. When I tell people I’m a filmmaker, drone pilot, engineer, and startup co-founder, the reaction is often surprise or even disbelief. That is exactly why it is so important to share these stories. Disability is not a limitation on ambition or creativity. If anything, the challenges we face can expand our vision of what is possible.

The stereotype-breaking goes beyond my own story. I have met so many people in the neuromuscular disease community who are redefining what leadership looks like, including scientists, entrepreneurs, artists, and athletes. All are proving that innovation thrives when we dismantle assumptions.

Innovation from the inside out

Individual using Reflex, a smart knee brace

At ATDev, our flagship product, Reflex, is a smart knee brace that combines lightweight exoskeleton technology with integrated telehealth features to help people recover from knee surgery at home. The device guides the leg through safe ranges of motion, provides resistance for strengthening, and records daily progress automatically. Patients wear Reflex just like a brace, and with the press of a button can complete stretching and strengthening sessions without needing to travel to a clinic. The idea came directly from my lived experience, drawing on the barriers I faced in accessing consistent, high-quality physical therapy. While Reflex was not specifically designed for people with neuromuscular conditions, this technology will ultimately benefit them by making rehabilitation more accessible, more measurable, and more flexible.

What sets Reflex apart is not only its engineering but its ability to connect patients and clinicians seamlessly. The brace collects objective data on range of motion, strength, and usage, then shares that information securely through a telehealth platform. Therapists can log in, review progress, and adjust treatment plans in real time, making remote care both practical and effective. The product was shaped by people who will actually use it, so every feature, from the adjustable fit to the software interface, was influenced by real-world feedback. Across industries, products designed with direct input from users with disabilities consistently outperform those created without it. When you build from the inside out, you do not just meet minimum requirements. You create solutions that are intuitive, efficient, and empowering.

Accessibility benefits everyone

One of the biggest myths about accessibility is that it only helps a small group of people. History proves otherwise. Curb cuts, which were first introduced to help wheelchair users, also benefit parents pushing strollers, travelers with rolling luggage, and workers moving heavy equipment. Voice assistants like Siri and Alexa, initially developed with accessibility in mind, are now mainstream tools.

When we invest in accessible design, we are not solving a special interest problem. We are creating a better experience for everyone. That is why I see accessibility not as a compliance checkbox, but as a driver of innovation. The most forward-thinking companies understand that inclusive design is not charity. It is good business.

From personal experience to policy change

While building products is one way to make an impact, influencing policy is another. In Colorado, I have been involved in advocacy efforts to make our state more inclusive, from improving transportation access to strengthening disability rights legislation. These changes often start small, such as a conversation in a committee meeting or a personal story shared with a lawmaker, but they can have lasting ripple effects.

Representation matters in these spaces. When people with muscular dystrophy and other disabilities are part of the decision-making process, policies are more likely to address the realities we live every day. Entrepreneurs have a unique role to play here. We understand both the systemic barriers and the practical steps to overcome them, which makes our voices valuable in shaping the future.