Rare Disease Day

It’s that time of year again! February is Rare Disease Month, and the last day of February is Rare Disease Day. There is a whole campaign around this, with online events, seminars, walks to raise awareness, appeals to governments for more research money, etc. It started in 2008 in 18 countries but now it’s observed in over 100 countries. That’s pretty cool.  They also coordinate support groups for specific diseases to help affected people connect with one another. That’s one good thing about social media… there is a support group out there for virtually everything.

A disease is considered “rare” when it affects fewer than 1 in 2000 people.  In the United States, that’s between 25 and 30 million people. Worldwide, there are over 7000 rare diseases that affect over 300 million people. Wow. Who knew.

I don’t participate in any of the events, but I do check out the websites on this stuff on occasion (rarediseases.org; rarediseaseday.org; rarediseases.info.nih.gov). I think it’s great that much of what these initiatives do and have achieved is patient-driven. They saw a need to band together to be heard and get shit done, because likely it wouldn’t have happened otherwise. Cool stuff.

My disease is nowhere to be found on these websites. I’ve searched every word I can think of, every acronym that’s used. Nothing. It could be that it’s too new (only “discovered” at least in writing in 2004), or more likely it’s too rare. The nephrologist told me that she is in a group of global providers treating this disease, and they have approximately 300 patients among them. That’s a hell of a lot fewer than 1 in 2000. (Don’t ask me to do the math.) Obviously there are probably many more people who have yet to be diagnosed (and maybe more still post-COVID??) but that’s still an incredibly small number. So I’m not a blip on the radar yet. It’s one of those crazy conundrums… I certainly don’t want MORE people to get this disease, but the more who do have it, the more the researchers and providers will learn about it.

Until then, those of us with it will be the lab rats—well, those of us fortunate enough to have access to care and the insurance and/or money to pay for it.  

Last week was my “off” week, which meant I got to sleep Wednesday night! No heartburn! What a treat, particularly because I had to be on the road at 5:30 the following morning for a several-hour drive to clinic. I hate when I have to make those long drives on no sleep. It’s a serious battle.

I was thinking the other day how this disease and the treatment have affected pretty much every part of my body: my hair, my eyes, my tongue, my voice, my skin, my digestive system, my knees, my feet. Not to mention the anemia with its resulting fatigue and being cold all the time, my poor brain confusion at one point, the swelling in my face, my legs, my feet, the steroid-induced diabetes, the high blood pressure, the near-congestive heart failure. What else am I forgetting? Thank god most were only temporary but many still persist.  This isn’t a pity party. It just sometimes still boggles my mind how everything changed in what seems like such a short period of time.

But, as I tell myself “Only two more years, only two more years,” I’m grateful to not be on dialysis yet. I was sure I would be by now.

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