Rare Disease Day is approaching, but what does that have to do with you?

February is national rare disease month, and rare disease day lands on the final day of February each year. Being leap year, this year it’s on the rarest day in existence: February 29. This month, more than ever, I have realized the gravity of the impact rare diseases have all around us.

Ever since my diagnosis in 2018, I have been well aware of the cruel impact a rare disease has on lives of those with the disease as well as those close to them. I knew the numbers; there are around 7,000 identified rare diseases, and FA affects 1 in 50,000 people in the U.S. I knew those facts by heart but never got the full picture. The only time I encountered someone else with a rare disease in person, I had to drive hours to my clinical trial in Florida or hop on a plane to attend a FARA event. I had heard of other people with FA in Alabama and even had a near encounter with an FAer at Auburn, but nonetheless, I had never come face-to-face with someone like me in what I considered to be my own little bubble.

But this month alone, that bubble has burst several times. The reality set over me that FA and rare diseases aren’t just some oddity that appear in random places far away, and I’m not just an outlier in some random town in East Alabama.

On the first Thursday of the month, FARA held its first ambassador meeting of 2024. A major topic of discussion was the FA app. You read that right – there’s an app for people affiliated with FA (patients, family, researchers, doctors) to connect, get research and medical updates, and share personal advice to help others living with FA. But there’s also a demographic that tells you where on the map people with FA live. Not everyone with FA is registered, and some are anonymous, but I was shocked to see I’m one of several dots in Alabama. I knew of a few others with FA who live in Alabama and even ran into one of them at a service dog check up in Atlanta, but it still didn’t feel real since we had to road trip across state lines to get there. It was still a special occasion thing.

A few days after that, I attended a Rare Disease Day webinar held by the National Organization of Rare Disorders (NORD). With there being so many diseases, I was prepared for a lot of people to join from all around. But still, it felt like they were just dots on a map that were distant from my bubble in East Alabama. While I didn’t see anyone there from Alabama, from the second I joined to an hour later the chat was going off, and each one of them had a different name, came from a different place, and had a different condition. “Hi, I’m Noah! I live near Auburn, Alabama, and I have Friedeichs ataxia.” Imagine 100+ messages like that, but no two of them looked similar. And many of them weren’t big-name destinations like Dallas or LA – many of them were places I’d never heard of – just like they’d probably never heard of Salem, Alabama.

Rare disease runs deep. They affect communities and real people you might never hear of – people just like me. I began to consider the fact that I’m not such an anomaly. I’m not just a meaningless dot on a map; there’s plenty of people in similar situations to mine almost anywhere you go.

Not a week later, it became more apparent than ever that was true. I got the pleasure of driving 35 minutes back to the same town where I just finished college to meet one of the other dots on the map next to me. Like I mentioned, it was someone I knew was near me but was never anything more than a story I had heard of. Last Thursday, it became real.

I pulled up to the Smith’s home in Auburn, and leading me up to their front door was a ramp. Just like my house. Their oldest daughter has FA, and our moms connected following our diagnosis’ though we had never met before. We discovered many commonalities in our diagnosis journeys, like how we never learned to ride a bike or do a cartwheel despite determined efforts and how confused we and our families were when our symptoms onset prior to our diagnosis. We laughed as we shared stories of the struggles of being in high school with FA and rolled our eyes at the thought of the inevitable, and fiercely unaccommodating, fire alarms at college dorms. It was so real. It felt like someone had lived a mirrored version of my life, and it didn’t take a plane or a multi-hour road trip to find them. They had practically been in my own back yard for the last several years!

Not only did we have those things in common, but it just so happens that she is graduating high school and attending Auburn University later this year, making the connection even greater. The isolation I felt going to a big university with a rare disease and the struggle of searching for an accessible college experience taught me lessons that I can pass on in hopes things can be different for them. No longer are we dots on a map; we are resources for each other in facing the struggles of life with a rare disease.

And really, I think that’s what Rare Disease Day and rare disease awareness is all about. When you receive a diagnosis of a rare disease, you feel overwhelmed, you feel alone and you feel like no one will understand what’s happening to you. My hope is that through Rare Disease Day, people with and without rare diseases can come together to gather the support rare disease patients and their families need to live life to the fullest.

Support can mean a lot of different things: helping raise funds or awareness, providing an extra helping hand, being an understanding friend without expecting anything in return, providing physical or emotional support, or simply listening and learning about the person’s condition. Whatever abilities or resources you possess, you can use them to support those around you. Rare Disease Day is a reminder that rare disease patients and families need that support.

It’s discouraging when I repeatedly tell someone the name of my disease and explain what it is just for it to go in one ear and out the other. Rare Disease Day helps gather awareness in every community and drive change that will make a lasting impact. Because rare diseases really aren’t rare; they’re real and they’re all around you. You just have to burst your bubble to find them.

You can start by showing your support on Rare Disease Day on the last Thursday of February. The theme for this year’s Rare Disease Day is “Light up for Rare.” You can help raise awareness by wearing stripes that represent the many different rare diseases (blue is the national color for ataxia) or participate in the global chain of lights by lighting up a building or monument in recognition of rare diseases.

Get more info about how to participate in Rare Disease Day at @rarediseasedayofficial on social media, visit https://www.rarediseaseday.org or contact me to see how I’m participating.