It’s Rare Disease Day 2019, friends and readers!
The point of this blog is that I have a rare disease: Essential Thrombocythemia (or Essential Thrombocytosis), which is a Myeloproliferative Neoplasm, which is a fancy way of saying that it’s a blood cancer.
It’s treatable, which is good, but it’s incurable, which is a real bummer. And being a rare disease, it has its own special issues. Here are some of the things that you have to deal with when you have a rare disease, based entirely on my personal experience (so it’s not an exhaustive list by any means):
1. You have to do your own research. I had to learn a ton of stuff about blood and platelets that I never wanted to know, because blood is gross. This isn’t so much restricted to rare diseases. By and large it seems like doctors are either disinclined or too busy to really spend time educating their patients, because I’ve had an worrisome number of doctors say, “Just Google it when you get home,” when I’ve asked them questions.
2. You have to educate your healthcare providers. When you have a rare disease, chances are most of your doctors, apart from your specialist (if you’re lucky!) are not going to have a clue. They will stare at you blankly when you make them aware of your diagnosis. They will snort and say, “Who told you that?” And they might even leave you in your little treatment room, find a computer, and Google your rare disease to give themselves a little crash course in MPNs. All of things have happened to me at one time or another. Which leads to this one…
3. You have to stay on your toes. If you have a rare disease, doctors, dentists, nurses, etc. may not be aware that some common prescriptions are contraindicated with your condition and/or treatment. I’ve really had to get comfortable speaking up and telling my healthcare providers when they’re making recommendations that my oncologist has already dismissed.
3. It is hard to find a good specialist. I’m fortunate to live near some really great hospitals and resources, and it still took 3 years for me to get a concrete diagnosis. I was diagnosed 5.5 years ago, and only in the past year have I started working with an oncologist who is confident in her knowledge of ET and her treatment plan for me. My first oncologist was very forward regarding his belief that I was too young to have ET and his lack of experience treating someone my age and gender who had ET. Neither of these things inspired confidence or trust. My current oncologist is amazing, and I’m really grateful she was the one on call when I ended up in the emergency room with blood counts that literally could have killed me.
4. If people haven’t heard of it, they’re less likely to care. People tend to be less sympathetic or understanding if they’re unfamiliar with your diagnosis. I have a weird double threat, in that it’s a rare and invisible illness. Nobody has heard of ET, and most days I don’t look particularly sick. If they saw me in the hospital hooked up to the apheresis machine with the hanging bag full of my excess cancerous platelets, they might think, “No wonder she’s so pale all the time!” But otherwise they might just assume I’ve been living in Nan Elmoth for the past few decades. So when you have a rare disease, sometimes you have to spend your energy explaining to the people around you that you are sick and you’re not just a naturally grouchy hermit. Although I did have a professor recommend that I consider “hermit” as an occupation pre-diagnosis, so maybe it’s not just the cancer.
5. Having a rare disease changes the way you look at things. Last weekend, I tried to clean my house Marie Kondo style, and I ended up in trouble with my oncologist for throwing out all my chemo when it failed to spark joy. ba-dum tsh But honestly, it does shape the way I think, to some extent. I try to be mindful and to curb it as much as possible, but having a rare disease is isolating and sometimes surreal. It’s an extra factor that’s always looming in the back of my calculations for the future. It’s blocked a lot of paths forward and probably opened a door or two. All in all, I think it’s probably another facet of this “through a glass dimly” situation, and I’m really looking forward to the time when it doesn’t matter anymore.
Again, these are based just on my experience. I’m sure it’s different for other rare diseases. Do you know other people with rare diseases? Ask them about it! If they want to talk, listen and learn. I’m really blessed, because the people close to me have been so supportive and so willing to learn about ET. They give me the benefit of the doubt when I can’t haul my near-corpse out of bed, and they are gracious when I go on extended rants about romanticized portrayals of chronic illness in popular books and movies.
Most importantly, they remind me with love that this rare disease is yet another part of life that has to be laid down at the feet of Christ as we grow near to Him, as His Kingdom comes. I couldn’t do this rare disease life alone, and I’m blessed by the particular people God has placed near me. Yet another way He provides. Having a strong support system is really critical to living with a rare disease, and mine is the best*.
Great is His Faithfulness.
*based on no empirical research and just entirely founded on my gratitude and overwhelming love for the people who are the hands and feet of Christ to me.
Y’all are wonderful.