To crack the code of FSHD, patients are absolutely essential
All of the breakthroughs—the discovery of the genetic causes, understanding why some patients vary so greatly in the severity of their symptoms, teasing out the biochemical pathways that could point to future treatments—were made because patients stepped up to the plate.
Too often, we hear patients say they’ll volunteer when there’s a treatment. But we will never get to a treatment unless patients participate in fundamental research now. FSHD is uniquely human, so no laboratory mouse can ever fully model the disease. The genetic “package” that causes FSHD is found only in people. We owe an enormous debt to the patients who give DNA samples. Who submit to long interviews and exhausting physical tests. Allow a surgeon to cut out a small muscle sample. Who fight claustrophobia to lie in the narrow bore of an MRI machine.
Equally important are patients’ family members, both affected and unaffected, who provide the best experimental controls because of their shared genetic and environmental backgrounds. A parent or sibling who has very mild symptoms may hold the key to understanding the factors that protect against the full-blown development of FSHD symptoms in a more severely affected family member.
We are more hopeful today than ever before that a treatment is within sight. We cannot guarantee when that treatment will arrive, but here’s one thing we guarantee: If you volunteer for research, your participation will without question help move us a step closer to that day.
Colette on Research ParticipationColette Wheeler gets real with what it's like to volunteer for a research study. She describes the mental and emotional impact of confronting the progression of her symptoms and the positive impact of finding the "FSHD is my superpower." Plus she offers great practical tips on how to get through a long and exhausting day.
FSHD 101 at the GenZ of FSHD meetingBen Brittain and Justin Cohen talk about the clinical dimensions and scientific research of FSH muscular dystrophy at our GenZ of FSHD virtual meeting. December 2021.
Molly White | Giving Tuesday 2021Molly White is Vice President, Global Head of Patient Advocacy and Engagement at Dyne Therapeutics
Scientific Overview of FSHD
Read the latest on wikipedia
Glossary of Scientific Terms
Watertown, MA–Daniel Perez, co-founder, President and CEO of the FSH Society and a 48-year-old patient with facioscapulohumeral muscular dystrophy (FSHD), the most common form of muscular dystrophy, hailed new findings,… Read More »