Against All Odds: The Early Heroes of the FSHD Society

by Erin Saxon, FSHD Society

A few months ago, I began an exciting project: capturing the stories of the early members of the FSHD Society. Since then, I’ve interviewed several remarkable people over Zoom and delved into early issues of FSH Watch to uncover the Society’s incredible history. While there are still more stories to collect, each interview sharpens the image of what those first years were like.

Officially formed in 1991, the Society was started by a handful of people living with FSHD who were determined to act. Founders like Daniel and Carol Perez, Stephen Jacobsen, and others created the Society in response to a complete absence of FSHD-specific research and resources. The Muscular Dystrophy Association existed, but its focus was elsewhere, leaving a critical gap for those with FSHD. The discovery of DUX4 was still years away, and the challenges seemed insurmountable.

The dedication of this small group was extraordinary. Longtime member and Chapter Director Amy Bekier explained, “You have to believe that the compounding of the different contributions become a voice, a loud voice. If we’re not out there to be seen, we won’t be to be seen.” Daniel Perez, for example, was the first person to testify before Congress on FSHD research, directly influencing the NIH to fund its initial FSHD-specific grants. To date, he’s testified 65 times.

The Society balanced bold, innovative work with empathy and connection. Living with FSHD can be isolating, and before the internet, connecting meant countless phone calls and paper registries. Carol Perez and others worked tirelessly to build a supportive network. As Deb Calhoun recalled, “Carol would call and say, ‘Hey, how are you doing?’ or ‘I know you have this doctor’s appointment coming up. Do you need anything?’ She was a really special lady.”

In the 1990s, the Society funded research grants, built regional support groups, started researcher-patient conferences, and created the first FSHD educational materials. These efforts created a tectonic shift in the FSHD landscape, paving the way for today’s therapeutic pipeline, clinical trials, and a Chapter Program that spans the US and Canada. As Howard Chabner, current Board Vice Chair, reflected, “I think that it’s pretty fair to say that if the Society wasn’t formed, we would not be anywhere near where we are today.”

Some of these early heroes are no longer with us, but their legacy lives on. The work they started continues, and one lesson is clear: collaboration moves us forward. As effective treatments come into view, we are on the shoulders of those who dared not only to dream but to act.

With every interview, I’ve asked what kept people going when there was no certainty the work would pay off. Don Burke, a founding member, put it best: “In terms of what motivated us… it was knowing that there was going to be no progress unless we made the progress happen. But it was hard.”

If you have a story to share about those early days, I’d love to hear it. Please get in touch at erin.saxon@fshdsociety.org.