Ally Roets and her son Sam — who was diagnosed with facioscapulohumeral muscular dystrophy (FSHD) when he was age 6 — describe the early symptoms that eventually led them to a diagnosis.

FSHD is a rare disabling disease characterized by progressive skeletal muscle loss. The disease generally begins with weakness in facial muscles, but progresses to the shoulders, arms, trunk, and ultimately the lower body. The condition is due to mutations in the DUX4 gene.

Patients typically begin experiencing symptoms during their teens or early adulthood, but in rare cases like Sam’s, some may be affected from birth. Patients often experience significant physical limitations including the inability to smile and difficulty using their arms for activities. Many patients ultimately become dependent upon the use of a wheelchair for daily mobility in addition to living with chronic pain and fatigue as the disease progresses.

Sam now uses a wheelchair full-time. He has lost dexterity in his hands and underwent FSHD-related back surgery that has left him unable to even feed himself independently. But despite these challenges, Sam is focusing his energy on ways to be active. He served as a patient representative for the Muscular Dystrophy Association and now works with the FSHD Society to raise awareness and support other families. He is also doing his own research to find a treatment. He has entered science fairs with experiments using exoskeleton mobility that could help FSHD patients. FSHD has not slowed him down.

To learn more about this and other rare neuromuscular disorders, visit checkrare.com/diseases/musculoskeletal-diseases/.