by June Kinoshita, FSHD Society
On June 29, 2020, the FSHD Society convened its landmark Voice of the Patient Forum. Patients and family members testified by livestream and email to educate the FDA on how FSHD has impacted their lives. More than 600 people responded to our surveys and provided statements which have been compiled into our Voice of the Patient Report. In a debrief meeting held a few days later, one individual commented, “It was the first time I heard people open up about the difficulties and burden on families.”
The stories from our community were compelling and heartbreaking. Here are a few:
“I have lost so much functionality that I cannot care for my kids without support. I cannot carry my kids, lift them out of the crib, and my right arm has atrophied so quickly that I can only type or use my phone for limited periods of time…. Doing my hair, or even my makeup, can take up most of my energy for the day, so I do not go out very often because of the effort, and my self-esteem has suffered.”
“I fall a lot, I always have bruises on me, I always have cuts and scrapes on me, and I usually have something sprained. I think that’s one of the hardest things…. I have times where, when I’m going through periods of more muscle loss, or a lot of stress, or a lot of fatigue, or there’s just a lot going on, I’ll notice that I fall more during those times, but I usually fall at least a couple of times a week…. I’ve fallen several times where I’m alone and I’m in the rain, and I had to sit outside in the rain by myself, with bloody knees, because I can’t get up by myself. So I just sit there for an hour until someone comes along.”
“The constant planning and re-planning required to make sure your body does not fail you or you have the access you need is exhausting, and the anxiety that goes with it sucks the life out of you. You find it easier and less stressful to avoid it all and just stay home. The more you stay home, the more isolated you become, and depression sets in.”
“Having a significant treatment for FSHD would really be life changing…. I would like to see something that would stop progression of the disease. If I were to stop progression right now, I would still be able to walk in 10 years. I would still be able to smile, to get off the couch, to raise my arms, to hold my future baby and countless other things….”
Afterward, we heard that our Voice of the Patient Forum is now seen by the FDA and others as the “gold standard” for these patient-focused drug development meetings. We are deeply grateful to everyone who participated and helped to make our meeting so successful. Special thanks to our generous sponsors and advocacy partners: Friends of FSH Research, Fulcrum Therapeutics, Muscular Dystrophy Association, and Optum.
The report has been submitted to the FDA’s Division of Neurology Products, Office of New Drugs, for inclusion in the framework used to evaluate future FSHD therapies. We are deeply grateful to all of the individuals who courageously shared their stories.