An FAer’s Reflection on Rare Disease Day

The theater was packed. It was unseasonably warm for February in Washington, D.C., and my Cajun blood was thankful. The details of that Sunday night in 2018 may have blurred in my memory, but the overall message from that week has stayed with me.

I settled into my place as the room went from being intimidatingly vacant to overcrowded. The lights went out and the film “The Ataxian” began. The screening of the documentary based on the experiences of my fellow FAer and friend, Kyle Bryant, kicked off the events for Rare Disease Week. The week was organized by the Rare Disease Legislative Advocates, which is sponsored by the National Organization for Rare Disorders, with help from Global Genes and other advocacy groups.

The heart of the week is Rare Disease Day, Feb. 28, which focuses on uncommon medical conditions and their potential treatments. The date is chosen as a reminder that even a day marked by the smallest number deserves recognition.

The schedule on the day following the film screening was filled with conferences. The number of advocates for rare diseases was incredible: over 700, including me.

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The following day was perhaps the most pivotal: we advocates were divided into “teams” based on our home state and meetings were booked with our state’s representatives at the U.S. Capitol. I’ll never forget being in the Congress members’ offices, traveling from building to building via the underground paths, seeing the dome of the Capitol building from a window below street level, and even having lunch in the most amazing cafeteria I’ve been to.

I want to mention Rep. Garrett Graves, who took the time to meet with me and my fellow Louisiana advocates. The other seven members of Congress for our state sent their staff to speak with us instead.

The congressman has since met two of our requests from that meeting: he subsequently signed onto the Orphan Drug Act Resolution and officially joined the Rare Disease Caucus.

Matt with his fellow advocates and Rep. Garret Graves, standing, middle back. (Courtesy of Matt Lafleur)

Sometimes, democracy works.

I didn’t go to Rare Disease Week in 2019, even though I have a crush on Alexandria Ocasio-Cortez. My love will remain unrequited for now. I look forward to returning next year.

During the week-long event, a Q&A session was held with the makers of “The Ataxian” the night following the screening. One woman approached the microphone and began to share her experience of living with a rare disorder. Unfortunately, she veered off topic, and having spoken at length, she was interrupted and politely told that questions should be specifically related to the documentary. It was an awkward moment. She stopped speaking and returned to her seat.

Shortly afterward, another woman went up to the microphone and announced that she was diagnosed with the same disorder as the first woman, and asked a question related to it and the documentary. When the Q&A session ended, I saw the first woman make a beeline for the second, and they talked.

Their simple interaction was my takeaway from the experience. Connections. Sometimes with rare diseases, we can feel a sense of loneliness. During my teenage years, aside from my sister, I knew no one else with Friedreich’s ataxia (FA). I felt that my issues were so unusual that no one else could relate to them.

In adulthood, I began connecting to the FA and rare disease communities across the country and around the world, and I’ve found a sense of comfort that goes beyond words. We are not alone.

For Rare Disease Day, Feb. 28, get in touch with someone in your life who battles a rare diagnosis. Don’t talk about anything profound, just check in with them. They may feel less alone because of it, and that is worth everything.

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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.