It's Time I Embraced Rare Disease Day

Today is Rare Disease Day. And while it’s been on my radar for several years now, this is the first time I’ve felt brave enough to embrace it publicly.

I’m fairly reserved about my chronic health issues outside my close circle. It’s not because I’m modest. Frankly, I think sharing your struggles helps others feel comfortable sharing their own.

The thing about having a rare disease is you don’t know if people will understand what you’re going through. People likely understand if you suffer from more well-known diseases like diabetes or arthritis. Whereas, “I have an autoimmune disorder that affects my eyes” doesn’t effectively convey why I spend hours at the doctor each week, why having a simple fever meant I had to spend a week in the hospital, or the fear that comes along with being immunocompromised during a pandemic.

In May 2016, I was diagnosed with my first case of uveitis, an autoimmune disorder that causes inflammation in the eye’s uvea. At the time, I thought it was a crazy fluke, nothing a few eye drops couldn’t solve. I even thought it was somewhat cool when my eye doctor was excited to finally see a bilateral uveitis patient. I’d seen enough episodes of House to laugh at being a bit of an anomaly. I soon learned that uveitis was not a sporadic pain in my eye but rather a lifelong condition that would dictate the course of my next decade.

Over the past six years, I’ve gone from steroid drops, to stronger steroid drops, to steroid drops balanced with pressure drops, to pressure drops plus oral steroids, to my first immunosuppressant therapy (pill), second immunosuppressant therapy (self-injections), and third immunosuppressant therapy (IV infusions)—switching each time because my body reacted poorly or the medication simply didn't work.?I soon?learned that the fear of starting a new scary treatment was nothing compared to the?fear of not knowing what comes next after failing off yet another one.

Roughly half of the people who suffer from uveitis also suffer from another underlying autoimmune disease, many of which you’ve probably heard of: rheumatoid arthritis, IBD, multiple sclerosis, and a couple more.?But the other half of uveitis patients live their lives never learning what’s causing their inflammation.

For some reason, this prospect was always scarier to me. Somehow living my life never knowing when, how, or why my white blood cells would attack my eyes was a more frightening prospect than being diagnosed with another disease. I always felt that an explanation would give me closure.

But it took me many years to learn that an underlying diagnosis would give me so much more than closure. Simply put, because uveitis is currently my only official diagnosis, I don’t have access to enough treatments.

No one is investing in uveitis-specific treatments because there aren’t enough people to buy them when they come to market. So uveitis patients have to rely on drugs that treat more common rheumatological diseases to see if they possibly might treat our individual cases of uveitis.

But that turns into a bit of a Schrodinger’s cat situation. I don’t know if a given drug would address my specific case of uveitis. And even if I did, there’s no guarantee I could get my insurance to cover it. There have not been enough people lobbying the FDA to approve more drugs to treat uveitis.

Which brings me to where I am now. Failed off all approved (and even stretch) medications known to treat uveitis. Doctors scrambling to figure out what to try next. And now doing experimental allergy testing to figure out if we might be able to find a concoction that makes my body tolerate one of the immunosuppressant treatments my system previously rejected. All because we have no other clear next step. My immunologist said it best: “Most people move on to a new drug when they have a bad reaction. You don’t have that same option.”

Despite the seemingly perpetual setbacks, I know I’m lucky for so many reasons. I’m blessed to have a great support system that frequently checks in on how I’m doing. Most of the time, I push through it. I find gratitude that nearly all of my dozen doctors are now within a 15-minute walk from work, humor in the fact that sometimes the stuff I deal with seems stranger than fiction, and on rare occasions, pride that I am strong enough to keep fighting this invisible battle without it overshadowing my life.

But often, I’m scared. I don’t know what’s next. My family and friends never know what to expect after a post-appointment call. And even the brilliant minds on my care team don’t yet know which path we should try after encountering another fork in the road.

One day, I’m going to find a drug that keeps my inflammation at bay without sending my body into chaos—and hopefully overcome my lifelong fear of needles in the process. In the meantime, I guess I’ll have to embrace the fact that I am just a bit rare.