2024 FA Symposium left us hopeful and yearning for more
A columnist with decades of FA experience shares an important message
While attending a recent Friedreich’s ataxia (FA) symposium, I tried, as I always do, to take in the science.
I’m grateful that the annual symposium, held by the Friedreich’s Ataxia Research Alliance (FARA) and the Friedreich’s Ataxia Center of Excellence at the Children’s Hospital of Philadelphia, always moves so fast. But my social science-trained brain can’t always keep up with all of the medical information that’s presented.
That said, I’m better today at absorbing and understanding presentations at the symposium than I was 13 years ago, when I first attended. So, if you’re new to taking in medical research, keep at it, you’ll improve.
The truth is, I’m much better at understanding emotions than mitochondria!
In a recent column, my friend Elizabeth Hamilton does a great job summarizing much of the research presented Oct. 7. As she observes, we’re all hopeful, yet still want more.
Many emotions, all of them valid
Every year, I see more and more children with Friedreich’s ataxia (FA) at the symposium. I see the fear plastered on their parents’ faces as they feverishly scribble notes about research. Sometimes the kids look fearful, but often they’re busy connecting with their peers.
It might be that I see more children because at 62, I’m one of the oldest people with FA at the event, so I think everyone younger than me is a child! But I hope it’s really because doctors are better at diagnosing FA now, and consequently, families are joining our community sooner.
I have many mixed emotions when I see children with FA. Firstly, I simply feel sad. These children should be riding their skateboards, learning to do a cartwheel, catching frogs from a stream, or whatever their heart desires. They shouldn’t be struggling to walk at the age of 10.
Next, I feel angry. FA is a tough disease with difficult symptoms. No one should have it, especially not a child. I don’t want that beautiful child across the room to have it. I want the end of FA. The sooner there is a cure, the better.
This might sound weird, but if I could bargain away FA for them, I would. I think that if my FA could be more severe so that they wouldn’t have it, I’d do it. This, of course, is magical thinking, something that’s been a part of me since my younger sister was diagnosed with FA. Back then, I immediately wished I could have all of my family’s FA so that she didn’t have to.
Then I feel glad that they are here with their community. I feel this for the parents, too. As a 2023 article in the Orphanet Journal of Rare Diseases points out, children and families dealing with rare diseases need emotional support and access to good medical information, as well as better ways to cope with daily living. Being among members of the FA community can help provide that.
I also feel glad that, led by FARA, we find ourselves with the first and only approved treatment for FA for patients 16 and older. As Elizabeth explains, Skyclarys (omaveloxolone), marketed by Biogen, is also entering a Phase 1 clinical trial for pediatric patients.
When it comes to treatments and a cure, it’ll never be soon enough. Nevertheless, I’m hopeful that, unlike me, the young people I see won’t have to live four decades knowing that they have FA without a treatment.
I also feel proud that I contributed to the onset of this hopeful time. I participated in clinical trials and a natural history study, hosted fundraisers, helped to create FARA’s ambassador program, and more.
Mostly, I feel welcoming. I’m sorry that these children and their families have to be part of the FA community. However, I’m super glad they’re here, where they need to be, with people who understand what they’re going through and can help them forge their path.
Note: Friedreich’s Ataxia 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 Friedreich’s Ataxia News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Friedreich’s ataxia.
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