Celebrating a new treatment for a different rare disease

Why the first approved Friedreich's ataxia treatment should matter to all of us

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by Halsey Blocher |

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I still remember exactly what I was doing when news broke that Evrysdi (risdiplam) had been approved by the U.S. Food and Drug Administration (FDA) in August 2020. Up until that point, it had been a pretty ordinary day. It took only a moment to become so extraordinary that it became permanently ingrained in my mind.

Good news that changed my life

It was a pleasantly warm summer afternoon, and I’d decided to recline my wheelchair under the shade of a large patio umbrella while I worked on some tasks for my managerial position at BioNews, the parent company of this site. I had just finished reviewing a column draft for my good friend and Friedreich’s Ataxia News columnist Matt Lafleur.

After a short discussion about his draft, our conversation shifted away from work matters. Matt had a question for me. He was curious to know if I’d benefit from the new SMA treatment that had just been approved.

In an instant, my state of quiet relaxation snapped to excited shock. I pushed our chat to the side and pulled up a social media tab. My atrophied fingers moved into hyperdrive as I sought confirmation of what I’d just been told. The announcement had been expected any day that month, but I’d been so focused on my work that I hadn’t even thought to look at any news or social media for a few hours.

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Evrysdi’s motor benefits sustained for 2 years in SUNFISH study

Sure enough, it was true. Evrysdi had become a reality. It wasn’t the first FDA-approved treatment for SMA, but that didn’t make the news any less significant. For people like me, who were unable to receive previously approved treatments, it would be potentially life-changing to have a therapy that could be administered orally or through a feeding tube.

After forwarding the groundbreaking news to my mom, I reopened my chat with Matt. The answer to his question was yes, my doctors expected that this could be a beneficial treatment option for me. And now that I’ve been taking it for over two years, I can confirm that it does help. The differences are often subtle, but they speak volumes to me and those closest to me.

A new treatment for my friend

New treatments and scientific advancements in any rare disease community are always worthy of celebration. For many, they’re an answer to prayers. We know that they could save lives and offer better quality of life for us or our loved ones. Why wouldn’t we celebrate that?

Last week, on Rare Disease Day, the FDA delivered yet another life-changing announcement: It has decided to approve Skyclarys (omaveloxolone) as the first-ever treatment for Friedreich’s ataxia (FA), the disease that my friend Matt lives with.

The day was filled with hopeful anticipation for the FA community and everyone who loves them as we waited for the final decision. Matt wasted no time in sharing the good news with everyone at BioNews, and it took only moments for the companywide chat to rightfully light up with excitement.

Matt has always been a supporter of his friends in various rare disease communities as we’ve navigated our own treatment journeys, and his joy in sharing in our celebration never seemed to be dampened by the lack of a treatment for his own condition.

Matt’s column, “Little Victories,” is dedicated to acknowledging everyday victories alongside the big ones. It’s a concept that he applies to both his personal life and in his relationships with others. Now, we have the honor of celebrating a monumental victory in support of Matt and the entire FA community.

To find out exactly how Matt feels about this momentous event, you should read his recent column, “A patient’s perspective on the 1st Friedreich’s ataxia treatment.”

Looking toward a future filled with victories

As Matt notes, there’s still more work to be done in the realms of advocacy and research. This is true of many rare diseases. FA and SMA are both still without a cure, and while each of these communities now has the privilege of saying that our condition is treatable, many others are waiting to say the same.

In moments like the one the FA community experienced last week, we’re reminded that the future is hopeful for those with rare diseases, even if there’s more to be done. And as we all press on in pursuit of that future, there will be times like this when we can pause to celebrate how far we’ve come.

Rare disease communities will undoubtedly have plenty more opportunities to celebrate little victories, earth-shattering wins, and everything in between. And the cool part is that anyone is welcome to partake in the celebration. Let’s uplift everyone together.

Note: SMA News Today 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 other 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 SMA News Today or its parent company, BioNews, and are intended to spark discussion about issues pertaining to spinal muscular atrophy.


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