Amy Bekier, facioscapulohumeral muscular dystrophy (FSHD) patient and Board Member of the FSHD Society, talks about how she manages FSHD.

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.

Though FSHD is progressive, Amy notes that the progression is not linear – during some periods of time, the progression is slow and other times the deterioration is quite rapid. For instance, she’s noticed that the deterioration has become more rapid as she has gotten older. When progression is rapid like this, Amy acknowledges that it can be especially hard to deal with the disease. 

Amy also mentions her reliance on medical equipment and professionals. She has several canes and walkers, as well as a traveling fold-up wheelchair, claiming that her home is like a medical equipment store. She also has a stairlift and has started hiring health care assistants to help her with tasks that have become too dangerous for her to do alone. 

 

 

As Amy explains in the second part of the interview, due to the progressive nature of the disease, she has lost the ability to enjoy many of the hobbies she loved such as golfing and painting – both of which she was incredibly good at. This, Amy claims, is the hardest part of FSHD; the loss of function which is directly paired with a loss of quality of life.

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