Living with FSHD can feel hopeless, but there are real ways to make a difference

by Sam Feldman

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If you have FSHD (or are close with someone who does), you probably know that mix of frustration, fear, and “will anything ever actually help?” I’ve been there, and the uncertainty of progression and potential future treatments (always so far away) can feel like the worst part. 

This Saturday, I attended an awesome event in San Diego put on by the Sociedad FSHD‘s local San Diego chapter. Avidity Biosciences was there to talk about their drug candidate Del-brax (AOC 1020), and FSHD Society CEO Mark Stone was also there. I want to send a huge thanks to the San Diego chapter organizers for what they do! And to the Avidity team and Mark Stone. 

What I learned is: we have more power in this process than most of us realize. And not in some vague “raising awareness” way; I mean in concrete, changes-the-outcome ways. 

The reason Avidity is even on track to pursue accelerated approval is because patients have been showing up for things like natural history studies, registries, and surveys. Those blood samples and data points led researchers to discover and try to validate a new blood biomarker for FSHD (C-DUX is what they are calling it) — something the field has been chasing for years. Without it, this faster FDA pathway wouldn’t be an option. 

And behind it all, the Sociedad FSHD in the US has been quietly (and not-so-quietly) making that possible: 

• Funding the clinical research networks and study sites that feed new discoveries. 

• Running listening sessions with the FDA so they hear directly from patients, including about upper body mobility and strength, which is an underappreciated form of disability. (And there are no “wheelchairs” for arms yet.) This is critical in preparing the way for a fast approval; the more the FDA knows now, the easier it will be for them to see the positive effects of a future treatment. 

• Connecting researchers and data. Did you know the FSHD Society received (as a donation) all of the data and material that was produced as part of the Fulcrum trial? They can now leverage that to push forward. 

• Building relationships with insurers before a drug is approved so coverage isn’t a multi-year fight. 

Just to note – I do not work for the FSHD Society, don’t benefit from any of this (besides as someone with FSHD), and until this weekend I was fairly skeptical of the impact of the FSHD Society. How much of a difference could they really be making? The answer I came back with is – it’s a HUGE difference. 

Getting involved and feeling like you are making a difference doesn’t have to mean volunteering for a trial tomorrow, even if we all want to do that. And you also don’t need to be independently wealthy and making huge donations to research. You can: 

• Join the Better Life registry, quick online surveys that researchers actually use. What I heard was that this is super important for preparing for and developing the pipeline for FSHD work. 

• See if you can enroll in a natural history or MOVE study, which track disease progression and create the baseline data drug developers need. They really do use that data to help them get the data they need for the FDA. For example, one treatment candidate in early clinical trial phase is using that data as the placebo group instead of enrolling folks to be in a placebo group. 

• Keep up with your local neuromuscular specialist so you’re ready when treatments arrive. If you are not genetically confirmed yet, get confirmed if you can, so when a treatment is available, you’ll be ready. 

• Support your local FSHD Society chapter — those walks and fundraisers you see on social media? They fund the advocacy, research, and patient resources that move the needle. 

If you’re outside of the US, here are some connections as well. 

The science is moving faster than it ever has, but none of it works without us. Every datapoint, every dollar, every conversation with your local group keeps this whole machine running. 

If you’ve been feeling powerless, this is one way to flip the script. Show up, plug in, and be part of the reason the next big breakthrough actually makes it to patients. 

And since it’s that season, join a Walk & Roll event and help raise money for this critical work. 

If you can’t or don’t want to attend an event, consider donating to the fantastic folks who organized and supported the San Diego meeting I went to, including: 

• Lead organizer: Amy / Amy’s Army. 
• Others that were super welcoming: Callum / Rock N’ Rollas and Dana / Future High Fivers