Happy (?) Rare Disease Day to those who observe
Can I tell you a little bit about mine?
Yesterday was Rare Disease Day, and I wondered if I could bend your ear.
Actually, I should say that differently. See, I have relapsing polychondritis (RP), a rare degenerative autoimmune disease that makes my body attack my own cartilage/connective tissue, and oftentimes that tissue is in my ears. So, while I love listening, I want zero people bending my ears. Don't touch my ears; don’t even look in their direction when I’m flaring and it feels like, to borrow a phrase from a fellow RP sufferer, I’ve just laid my head down on a barbeque grill.
So, I’d love to leave your ears alone while I tell you a little about RP, because with rareness comes less understanding, and being mysterious in this way is kind of exhausting. I thank you (really, really) for your curiosity.
The truth is that even those who are most knowledgeable about RP aren’t working with the same arsenal of research and data that exists for other ailments. More often than not, I am the first real live RP patient with whom doctors have come in contact. I’m equal parts appreciative and annoyed by how often they’ll gather other colleagues to check out the rarity.
If you have the choice, more common illnesses are really the way to go. It saves you from being a spectacle and human lab rat (though, I’m honored and fortunate to be part of some studies at the National Institutes of Health (NIH)). Being one among many — rather than one in roughly 285,000 — means your lived experience is more understood. And you have lots of funders curious about how to make money from finding treatments for you.
Unfortunately, though, there’s not an overwhelming amount of money invested in understanding or curing diseases that won’t generate much revenue. Eye roll at our cute healthcare system…
It makes me forever grateful to the dedicated folks with the Relapsing Polychondritis Foundation and Race for RP who are inspiring awareness that is fueling innovation. And to the brilliant, inquisitive and compassionate researchers at the NIH, the UPenn Relapsing Polychondritis (RP) Program in the Perelman School of Medicine and others.
At any rate, I’ll tell you that It hurts to have parts of you so inflamed they erode. Degrade. Degenerate.
It hurts worse to realize the outcomes can be more permanent and ominous than the physical discomfort, which as a tender soul, I find to be plenty by itself.
Some of my favorite organs are made of or are surrounded by connective tissue. Like, I’m a big heart, brain and throat enthusiast — huge fan of their work. I also think functional joints and eyes are super helpful in existing autonomously. Five out of five stars.
But evidently not every fiber of my being agrees. My immune system gets suspicious of and aggressive toward these important pals of mine and nobody knows why or how to make it stop.
I’m lucky that my flares are more often present in less deadly places: My joints, ribs, ears and the fascia around my muscles. The result compromises my mobility with some frequency, but at least I think I’ll get to stick around for a while, albeit sometimes stationarily, for my son (and wife and family and friends).
I’ve been managing things since I was diagnosed in 2021 by working to shut down my overachieving immune system (don’t recommend during a pandemic).
Some of the meds I take to tell my little fighters to calm down are more complicated than others. The steroids are the worst. They make me a fussy, insatiable, puffy monster. And, as I’ve learned more recently, they kill my bones — hence the need for new hips. So the goal is to find a less destructive way to quell the anarchy and find ways to ride the waves of uncertainty with some semblance of grace.
In the meantime, I’ll be here hollering about my experience and cheering on my fellow rare disease comrades. May we find solace in our unique shared experiences and may the winds of greater understanding blow in our directions.
For the extra curious who have a free hour, this short documentary by Race for RP called “The Race Of Our Lives” explains the disease and the search for its cure.
phlebotomists can giggle all they want- as long as they don't roll the rendering vein...