My Disease Is *Finally* Treatable!


As I write this, I’m on my second day of taking the only FDA-approved medication for Friedreich’s Ataxia – Skyclarys, also known as Omaveloxolone. Friedreich’s Ataxia is a rare condition that causes progressive damage to the spinal cord, peripheral nerves, and the brain, resulting in uncoordinated muscle movement, balance issues, walking difficulties, and more. It’s even more heart-wrenching as it often strikes children and teenagers, gradually worsening over time. Although rare, it’s the most common form of hereditary ataxia in the United States, affecting about one in every 50,000 people.

Living with a rare condition that lacked treatment made me accustomed to the idea that this would be a lifelong struggle. Over time, I had become desensitized to the concept of hope, and my mental resilience played a vital role. But now, with this new treatment, I’m flooded with a mix of emotions.

Looking back, I can’t help but be amazed by the journey that has led to this moment.

Countless fundraisers, scientific conferences, and drug trials have paved the way for progress. The dedication of scientists, the support of the community, and the effort poured into research—it’s truly overwhelming to think of all that’s brought us here.

I’ve had the privilege of participating in two double-blind, placebo-controlled clinical drug trials. One was for a drug named EPI-743, and another for Interferon Gamma. These trials demanded dedication and perseverance, and I’m grateful that the new medication doesn’t come with such challenges.

As I embark on this new phase of my journey, I’m filled with a mix of happiness. But also a cautious optimism and a touch of guilt.

It’s only natural to be hopeful, yet past disappointments have left me cautious. My father, my steadfast companion in this journey, shares my sentiment—optimistic yet guarded. We’ve seen our hopes dashed before, and it’s taught us to temper our expectations.

Reflecting on all this, my mother and I often find solace in the idea that timing is intentional. Even if it doesn’t align with our plans. There’s a sense of comfort in knowing that there’s a greater plan at play.

As I move forward, I’m grateful for the opportunity this treatment provides.

I hope for positive outcomes not just for myself but for all those who share this journey with me. Whether you’re on this path or waiting for your own breakthrough, let’s support one another and share in the hope that tomorrow holds.

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