Living with FSHD and working toward a cure

By Sharon, FSHD, United States, February 29, 2020

I have a rare disease – FacioScapuloHumeral Muscular Dystrophy. One in every approximately 8000 people have FSHD. I had never heard of this disease until I became sick at the age of 28. Neither had my family members, friends or co-workers. When I first got diagnosed I tried to research it/”google” it and literally found no information on the internet regarding this disease. I thought for sure the Physician at Cornell University was mistaken.

Most medical professionals (to this day) have to read about it first or ask me for my knowledge before attempting any treatment. Primary care physicians, physical therapists, physiologists, nurses – all look at me with a puzzled, blank stare when I tell them my diagnosis, they are clueless. Two years ago after having this disease for over 30 years I was finally able to join a newly formed advocacy group for FSHD patients and most recently I was accepted into the “DisabilityIN” mentors program for NextGEN Leaders (young leaders with disabilities). I am really excited to be a part of this group, I am mentoring a young PHD student, with a very rare disease, as she attempts to enter the workforce and begin her career in Neuroscience. But most importantly, each day I am really proud to be a part of the Biometrics and Data Sciences (BDS) team at a major global pharma company, because I know the work we do helps to make patient’s lives better!

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