Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and Board Member of the FSHD Society, discusses her diagnostic journey.
FSHD is a rare, progressive musculoskeletal disease in which persons initially lose muscle strength in the face, shoulders, arms, and trunk, but later the disease progresses throughout the lower body. FSHD is due to the mis-expression of DUX4 in skeletal muscles. There are currently no approved treatments for the disease.
Amy explains that she has a strong family history of FSHD, with the disease impacting approximately half of her father’s side. Amy’s first indication of FSHD was when she was 17 and her shoulder dislocated after an evening of bowling with her friends. About ten years later, she saw a neurologist who, after performing an EMG, confirmed that she had FSHD.
To learn more about FSHD and other rare musculoskeletal diseases, visit checkrare.com/diseases/musculoskeletal-diseases/