When a Rare Disease Treatment Comes Out, but It’s Not for You

Aug. 7 was a big day.

Some groundbreaking news came out in the rare disease world: the U.S. Food and Drug Administration approved a new treatment for spinal muscular atrophy (SMA) that will be available to patients soon. What is great about this treatment is that all patients over 2 months of age with all types of SMA can use it.

I am excited and happy for all of my friends with SMA. This is incredible! Also, I am jealous.

Maybe it’s selfish, but I wish a treatment would hurry up and come out for Friedreich’s ataxia (FA), which is still untreatable. I’ve been longing for an FA treatment for over 20 years — 24, to be exact.

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The year 1996 was big. 

Almost everyone was held captive by the “Macarena,” a dance song in English and Spanish that came out a few years earlier. Whenever it played on the radio (which seemed like every five songs), most Americans became goofily entranced. The song was the snake charmer, and we were the cobras who’d do a simplistic line dance, almost involuntarily. Then, when the song ended, we’d all laugh.

I’m far from the type of person who’d enjoy a line dance now, but back then I was unashamed. At 11 years old, wearing my Girbaud jeans and line dancing in a crowd of classmates, I was undoubtedly awkward and dorky. But I didn’t care.

“Hey, Macarena!”

I didn’t know that some of my awkwardness and inability to dance rhythmically was due to a genetic disorder. My incoordination and overall poor balance were worrying to my doctor.

In 1996, my sister and I were both diagnosed with Friedreich’s ataxia. As my parents grappled with how to tell their children that there was no available treatment to stop them from losing most of their motor function, an exciting scientific discovery was made.

By happenstance, only a few months after my diagnosis, scientists were able to identify the specific gene that caused FA. This was a breakthrough in the study of FA. My parents obviously assumed that a treatment or cure was not far off. 

After all, scientists had managed to clone a sheep for the first time that year! Dolly reminded us that we were living in a time when science fiction was quickly becoming a reality. Surely, with a new road map of Friedreich’s ataxia, a cure or at least a treatment would come soon.

We were excited. I seemed to be diagnosed with a rare disease that was about to be cured! #blessed

And yet …

And yet …

Months turned to years. My jerky and awkward line dance became drastically unstable walking. Eventually, I needed a wheelchair to cover great distances. And then, I needed it to get around my small apartment.

No cure and no treatment came.

***

Aug. 7, 2020 was still a big day. It didn’t bring news of an FA treatment, but it was great news for another rare disease community. It’s OK that I feel a little jealous, but it’s wrong to end up feeling sour.

Although my rare disease is still untreatable, I am foolish if I don’t look beyond that. The newly approved SMA treatment will not benefit me directly, but it will benefit another entire rare disease community. And the science behind this drug may propel a treatment for FA.

The sad truth is that no cure has been found yet for FA. In light of that, it’s easy to disregard other signs of progress. 

In 1998, Ron and Raychel Bartek started the Friedreich’s Ataxia Research Alliance, which helps to connect FA patients across the world and to continually fund and support global research. (Fun fact: Raychel and I are from the same small town in Louisiana.)

A 2018 study found that gene therapy caused a complete reversal of the effects of FA within mice models.

So, although no cure or treatments have been found for FA yet, let’s celebrate today on behalf of the SMA community.

Tomorrow — or soon after that — will be a big day for the FA community. Of that I am certain. 

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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 Services, and are intended to spark discussion about issues pertaining to Friedreich’s ataxia.