Ally Roets and her son Sam — who was diagnosed with facioscapulohumeral muscular dystrophy (FSHD) when he was age 6 — describe the various therapies they have pursued to mitigate the impact of the disease.

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.

Sam used speech therapy, physical therapy and occupational therapy to address the early symptoms. He also underwent several surgeries as the disease progressed. He 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.

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/.