Revealing a Hidden Thief: Friedreich Ataxia Awareness Day and the Long Road to Diagnosis

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Mike Upchurch
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Published on May 17, 2024

Friedreich Ataxia Awareness Day is recognized around the world tomorrow, and if you’re like most people, your response is probably, “What the heck is Friedreich ataxia?”

This rare, neurodegenerative condition often gets overshadowed by more common and highly visible diseases, but the challenges it poses to patients and healthcare providers alike are no less serious.

Friedreich ataxia (FA) affects an estimated 1 in 50,000 people worldwide, but because of the difficulty in recognizing and accurately diagnosing such an uncommon condition, its full impact is difficult to know. The early symptoms of FA, which include problems with walking, balance, and speech, mimic many other diseases of the nervous system, adding to the challenge of identifying it.

Imagine that you or someone you love starts having trouble walking steadily, speaking clearly, or performing fine movements, such as tying shoes or typing. You’d want answers right away, but those first visits to the doctor might feel more like you're playing detective, trying to piece together clues to solve an impossible mystery.

For many families dealing with FA, this journey can start early in life, during childhood or adolescence. It's already a time of big changes, and adding in the uncertainty of inexplicable health issues can be a heavy burden. It’s not uncommon for patients and caregivers to spend years going from one doctor to another, doing test after test, searching for answers.

As those years march on, problems with coordination and balance become more noticeable and more disruptive, making everyday tasks difficult. Simply walking or holding a toothbrush becomes a challenge, and life becomes a daily struggle with frustration. Most patients eventually become wheelchair-bound and lose their independence. All the while, an accurate diagnosis and effective treatment remain elusive and the physical function lost to disease progression can never be regained.

The approval last year of SKYCLARYS (omaveloxolone), the first-ever treatment to slow the progression of FA, brought new hope to patients, despite not being a cure. But getting on treatment still depends on accurate diagnosis, which can only be done after the disease is suspected and a specific genetic test is performed.

Shining a light on FA to speed detection and diagnosis can make a meaningful difference in patients’ lives. Resources such as the Friedreich’s Ataxia Research Alliance (FARA) and can help patients, their caregivers, and their healthcare providers better understand the condition, how to recognize it, and how to manage it.

On Friedreich Ataxia Awareness Day, let’s all remember that the first step to changing a life is getting a clear picture of the problem we’re solving.