New York, Jan. 26, 2026 (GLOBE NEWSWIRE) — In recognition of Rare Disease Day on February 28, the Muscular Dystrophy Association (MDA) is sharing powerful community stories throughout the month that reflect how connection, research, and advocacy are advancing care and opportunity for people living with rare neuromuscular diseases.
According to the National Institutes of Health (NIH), there are between 7,000 and 10,000 identified rare diseases, affecting an estimated 25 to 30 million people in the United States. Most rare diseases still lack effective treatment, and none have cures. Due to their rarity and complexity, neuromuscular diseases often fall through the cracks of broader healthcare systems, delaying diagnosis, limiting treatment options, and leaving people without the resources, knowledge and support they need.
By elevating lived experiences across rare neuromuscular conditions including muscular dystrophies, myopathies, motor neuron diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), myopathies, mitochondrial disorders and more, MDA raises awareness and provides resources while highlighting the momentum created when families, clinicians, researchers, supporters, and volunteers advocate together.
At the center of this progress is connection—to expert care, trusted resources, and to a community that understands the challenges and possibilities of life with a rare disease.
“Families are at the center of everything we do,” said Sharon Hesterlee, PhD, President and CEO of the Muscular Dystrophy Association. “I’ve seen how progress happens at the Muscular Dystrophy Association when we connect people to resources they did not know existed. Meeting families where they are, helping them navigate all aspects of their rare neuromuscular disease journey while we innovate disease interventions, is what makes MDA a unique and sought-after partner in the rare disease space.”
For over 75 years, MDA has supported families by funding research, delivering multidisciplinary care through its national network of MDA Care Centers, and amplifying the voices of a diverse and growing community. Programs such as the MDA Resource Center and the Gene Therapy Support Network provide individualized guidance on diagnosis, clinical trials, equipment access, and caregiving—ensuring families are never navigating rare disease alone.
Strength in Community Stories
Throughout February, MDA will feature stories from our community on social media that address challenges of living with rare diseases and provide resources and support for families through mission programming at MDA.org. Hear more from MDA Ambassadors:
Receiving a rare disease diagnosis can feel like being handed a map with the street names missing. Justin is a husband and father living with limb-girdle muscular dystrophy (LGMD) 2B. Diagnosed at 13, he says that the hardest part of receiving news of his diagnosis was the unknowns. “I experienced a lot of mixed emotions. I remember feeling lost because I knew little about the disease and the severity of the condition.”
Uncertainty is common in rare neuromuscular disease, where clear, trustworthy information is not always easy to find. MDA makes it easier to find answers, understand options, and helps families move from “What does this mean?” to “Here’s what we can do next.”
Rare disease can be isolating, until you find your people. Caroline calls it the “rare disease club.” It’s a small club, but it is full of people who show up for each other. Today, Caroline is an adult living with collagen VI muscular dystrophy. Diagnosed at 4, and later with a collagen VI form at 11, she hadn’t met many others living with neuromuscular disease until she attended MDA Summer Camp. From ages 8 to 17, camp became where she found connection and friendships that lasted well beyond summer. She even wrote about MDA Summer Camp in a college admissions essay, which ultimately led to her admission to Harvard College. Feelings of isolation (“I’m the only person among my friends and community living with MD”) can be common for people living with rare neuromuscular disease. MDA creates spaces where people can feel seen, supported, and connected.
Living with a rare disease often means constantly adapting.
A.J. is a husband, a dad of three grown kids, and someone who loves to travel, watch tennis, go to concerts, and Broadway shows. He also lives with inclusion body myositis (IBM) and facioscapulohumeral muscular dystrophy (FSHD). A.J. has learned that needs can shift over time, and that finding the right support can take persistence. He also wants others to know that tough moments can come and go, and that resources can help you keep doing what matters.
That is a rare disease reality. Care is complex, and it is not always easy to find clear guidance and support as things change. MDA helps by making it easier to reach expert care through the MDA Care Center Network, and to find trusted resources and practical support along the way.
When a rare neuromuscular disease begins in infancy, support has to grow with through different life stages.
Gabrielle was diagnosed with spinal muscular atrophy (SMA) Type 2 when she was 1-years old. Early on, her family was learning how to support a child with a rare, complex condition. Now at 23, Gabrielle is an adult building her future. She is pursuing graduate study in clinical mental health counseling, with the goal of one day opening her own clinic to serve underrepresented communities including people living with disabilities. Gabrielle credits MDA’s support in helping shape her career goals and her advocacy work.
Needs shift as life shifts, and support has to keep pace. MDA helps young people navigate the shift from childhood into adulthood through programs designed for connection, confidence building, and navigating real-life transitions, including scholarships, advocacy, peer support, and guidance and resources for college and employment.
A rare diagnosis should not mean rare research.
Blythe is a high school senior living with limb-girdle muscular dystrophy (LGMD). She loves art, dogs, and gaming with friends, and she has been an MDA Summer Camper since she was 10. Blythe has seen what research takes. She participated in a preclinical study for her type of LGMD because she wants to help move research closer to future treatments. For rare diseases, progress depends on sustained scientific work and people willing to be part of it.
Rare Disease Day is observed globally on February 28 to prompt action through increased awareness, research, and community engagement. MDA encourages people diagnosed with a neuromuscular condition and their families to engage with its year-round programming—including educational webinars, support groups, advocacy initiatives, and community events—to stay informed and connected.
Families seeking support can contact the MDA Resource Center at 1-833-ASK-MDA1 (1-833-275-6321) or [email protected].
MDA Public Service Announcements available here.
Media contact [email protected].
About Muscular Dystrophy Association
Muscular Dystrophy Association (MDA) has been at the center of progress for people living with muscular dystrophy, ALS, and over 300 other neuromuscular conditions for 75 years. We unite researchers, clinicians, advocates, and families to speed the pace of discovery, improve access to expert care, and ensure inclusion in every aspect of life. Our mission is simple: give the people we serve the tools and opportunities to live longer, more independent lives. To learn more, visit mda.org. Follow MDA on social media on Instagram, Facebook, X, Threads, Bluesky, TikTok, LinkedIn, and YouTube.
- Muscular Dystrophy Association Marks Rare Disease Day by Spotlighting Community Stories Driving Progress in Research, Care, and Advocacy