Dreaming of solutions to the Olympic-sized challenges of FSHD
I envision a future with new treatments and even a cure for this rare disease
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My family and I have never been athletically inclined. Our talents lie in other areas. That being said, we’ve enjoyed watching the recent Winter Olympics together.
As a blind person, I couldn’t see the skiers, skaters, sliders, riders, jumpers, and other athletes in action, but the commentators provided descriptions that made the events accessible to me. My wife, Wendy, and my daughter, Jill, enhanced the experience even further by sharing their own lively commentary, turning it into a memorable and joyful family event.
I believe every athlete who competed in the Olympics was a winner, regardless of whether they finished on the podium. Each dedicated thousands of hours to grueling training for the chance to compete at the highest level. Simply being able to call oneself an Olympian is an incredible honor.
Warriors in their own right
Facioscapulohumeral muscular dystrophy (FSHD) and other rare diseases can transform everyday activities into Olympic-sized challenges. I have deep admiration for those in the rare disease community who forgo government benefits and make heroic efforts to earn a living. This isn’t always possible, though, as some of us give employment our best shot but don’t succeed.
For many living with FSHD, simply walking down the hall can feel like running a cross-country marathon. Moving from a wheelchair to a bed might seem as daunting as performing a switch backside quad 1620 or a triple axel. Successfully preparing a meal can feel like crossing the finish line in a downhill ski race.
Recently, a fellow “FSHDer” described everyone in our FSHD wellness group as warriors. I wholeheartedly agree. Those of us living with muscular dystrophy or other rare diseases face Olympic-sized hurdles each day, yet we persist, finding ways to adapt, adjust, and overcome.
Of all the moments of victory and defeat from the 2026 Winter Olympics, one memory stands out most vividly to me. It centers on my grandson, Theo, and reflects my hope for new treatments and even a cure for FSHD. My son, Ryan, Theo’s dad, shared this story with me, and I have no doubt it will become a much-told family legend.
One evening, Ryan, his wife, Danielle, their daughter, Julia, and Theo were watching the biathlon, a unique event that combines cross-country skiing and marksmanship. In the biathlon, competitors ski long distances, stopping at intervals to shoot at targets — sometimes standing, sometimes prone. If they shoot well, they continue on the course; if not, they must ski penalty laps before resuming the race.
Ryan wasn’t sure how much Theo, who is 4, understood the biathlon’s nuances. But as soon as the television was turned off, Theo grabbed a pool noodle from his toy collection and began “skiing” from room to room, noodle slung over his shoulder. When he reached a certain spot, he’d mimic the athletes — taking aim with the noodle as a makeshift rifle, sometimes standing, sometimes flopping onto his stomach to shoot at imaginary targets.
FSHD, like many forms of muscular dystrophy, is hereditary. Although I wish it weren’t so, I’ve passed that gene to my children, who may, in turn, pass it to future generations. Thankfully, none of my children or grandchildren have shown symptoms so far, but the defective gene still lingers in the background.
Theo is a healthy, smart, and strong little boy. I hope and pray that, if he ever develops the same passion and determination we saw in this year’s Olympians, FSHD won’t stand in his way. I dream that he’ll have the opportunity to compete as an athlete in high school, college, or even as an Olympian.
As a young boy, I didn’t dream of being an Olympian, but I did imagine myself as a professional baseball player — ideally, like my heroes Roberto Clemente and Willie Stargell, playing for the Pittsburgh Pirates. I began showing symptoms of FSHD at age 9 and was diagnosed at 14, and those professional dreams quickly faded. I hope Theo will never have to face FSHD, though only time will tell. I long for a treatment or cure soon, so that Theo’s childhood dreams — Olympic or otherwise — may one day come true.
Note: Muscular Dystrophy News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Muscular Dystrophy News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to muscular dystrophy.
Andrew Cheslock
I have both FSHA and OPMD. (I understand that this is a rarity). Does anyone have a comment or experience with taking Creatine supplements?
Ricardo Gerpe
Hello Rob, glad to read you as usual. I sense that for you, as for me, one of the worse things of this disease is that it is hereditary, right?.
We would do anything not to pass it on to our kids. I think I did so to my son, but still not fully clear.
He doesn't want to be gentically-tested yet. On the counter-side, if he develops FSHD, I hope that he can live a plentiful life as much as I'm doing.
I lived in Venezuela between 1978 and 1989. They were crazy about baseball, a sport totally unknown in Spain. So I had to learn it to or I would never be part of any children group. And ultimately I did and enjoyed baseball a lot.
I do remember Willie Stargell, wasn't he the one with lots of stars in his hat? and that he granted some to his team members when they deserved it? ha ha...
I also remember that pitcher with a weird technique, I'm not sure if he was playing with the Pirates, (and I don't want to Google it), Ken Tekulve or something like that.
Don't ask me how I remember these names. I do, while I forget much more important things.
Warmest regards,
Ricardo
Robin Stemple
Hi, Ricardo. Yes. It's difficult to deal with the reality that we're passing along the FSHD gene to our children. Back when Wendy and I were having children, I was in pretty good shape. My only limitation was the inability to extend my arms completely over my head. Of course, I had my head in the sand, choosing to ignore the reality of what FSHD would do long-term. Still, my kids are doing okay. Heck, I'm doing okay, too! We pass along our good genes to our kids, too, right?
On the baseball front, yes, Kent Tekulve was the Pirates' clutch relief pitcher if I recall correctly. He really helped them to win some championships, back when Pittsburgh was the City of Champions. That's a long time ago, but great childhood memories for me. Stargell was the team captain and did, indeed, pass out stars to players. He was getting older, so his nickname for the team was "Pops." Clemente was the star, though. He was just am amazing player. Take care and see you on a Wellness group soon, I hope!