FSHD impacts individuals and subsequent generations. This is a condition that is often misdiagnosed by physicians thus, the numbers of those affected are difficult to determine. Since we established the Friends of FSH Research in 2004,we have received notes from many people that have FSH Muscular Dystrophy, here is one such letter.
"… My father had FSHD. He had 5 children (2 with FSHD). My brother is severely affected since adolescence, never could work, and never married. My sister, has the gene, married and has 4 children. They have not been tested yet. She is less affected, weakness, poor grasp, and tires easily.... my brother showed signs of FSHD at puberty ,although we thought he was lazy, clumsy and slow. He would come in to rest after only mowing 2 rows. He was strangely awkward and spilt things all the time. It wasn’t diagnosed until he was 18 (incidentally) after a slight car accident when they had his foot in a splint for 2 weeks and then ended up with foot drop. The doctors investigated further and found him to have FSHD. We all needed to be tested and learned then that my father and sister also have FSHD. We thought my brother looked just like my father, the same crooked smile, same whistling from the corner of their mouths, same eyes and color blue, and the same way they carried each other. That is our story."
I very much appreciate people writing to us and sharing their experiences, for that helps others to understand what it is like to live with FSH Muscular Dystrophy. FSH is a condition that is poorly understood by those in the medical field and to the majority of the public. Even organizations that focus upon Muscular Dystrophies often dismiss FSH as "benign" or "non-fatal," thus, relegating it to a condition that does not demand immediate attention. But, FSH is not benign, it impacts every aspect of daily living and in its most severe form impacts the lifespan. In the family story shared here, this father died at the age of 39, a very young man.