with rare disease day coming up, i want to say a little about some of the obstacles that i have faced specifically because of the rareness of my disease. i am the 64th case in recorded medicine of my condition.
i do not feel safe naming my condition publicly due to its rarity. as in, this is my most well-documented disability, meaning that it appears on all my medical paperwork and my disability paperwork. my employers all know about it, and how rare it is. my mom tells everyone who will listen about my condition. i've had to tell pretty much every medical professional i interact with all about it. for that reason, if i were to name it online, anyone who rode in a lyft with my mom, or any pharmacy tech who's ever processed even unrelated meds, or my irl former boss, would immediately know it was me. i don't have any privacy about my condition irl. i'm visibly disabled, and it is very hard for me to avoid the kinds of assumptions that people make about my body.
i have to be an ambassador for my condition to every doctor i meet. they look at my chart, and ask me what that name means. i have to explain what it is, how it works, what the impact is on my life, what causes it, and what the treatments are. this includes with specialists in the organ system it effects, because...
because there are no specialists in my condition! there is a specific research hospital that has treated some patients with my condition, but even the doctors who treated me there were actually specialists in a totally different disease! i was actually nearly turned away from their clinic because my tests were negative for their actual specialty, and my mom and i had to repeatedly explain that no we weren't there for that, we were there for one specific doctor that had done some research ten years ago on a condition that nobody else in the hospital had even heard of before. again, being an ambassador for my condition that i was hospitalized for, on the verge of dying from it
insurance. my condition does not have an insurance code. insurance codes are used to approve treatments for each disease. for example, if you have the code for iron deficiency anemia written in your chart, then you can get approved for iron infusions. but there isn't a code for my condition. so when i became iron deficient due to complications of my condition, they couldn't approve me for infusions until my iron deficiency became severe enough that it could be diagnosed as full blown anemia. they basically had to list one of my complications as its own condition in my chart, because at least that had an insurance code, to get me in to see any doctors at all.
medications. medications in the USA, where i live, are protected by patent and developed to be shared on the free market. that means that if you don't have enough "consumers" for your medication, there's no demand, and therefore no motive to sell it. when a medication was developed for my condition, that improved QOL and helped slow progression, it was never even submitted to the FDA, because there was no demand. this means that not only is this medication not listed as covered by literally any insurance company, but it is not produced commercially. i have to order a thirty day supply from a "compounding pharmacy" where they make the medication custom for each order, and then ship it to me every month. i have to pay out of pocket for it every single month.
being a specimen. frankly this part doesn't bother me, because if i can contribute to research, then hopefully other people won't have to suffer from it like i have, but part of my treatment has always been participation in research. i make living tissue donations, where whenever biopsies are taken to check progression/if my meds are working, i donate extra to be used for research purposes. when i die, i plan to donate my body to the specific research team that wrote the one paper on my condition that exists. but there's not much research on my condition at all. when i met with the research team, they gave me a ton of materials for the more common condition that i do not have. i'm worried that when my current doctors retire or move on, nobody will continue the research, and my condition will remain difficult to treat and mysterious to medicine.
i have a condition that i will never see in a positivity post. i have never met another person with my condition, and i don't ever expect to. there are no support groups for people with my condition, no discord servers, no facebook pages. but i'm not in this alone. there are lots of people who also have "case study level" illnesses (illnesses that aren't common enough to do larger scale research on). and hopefully with healthcare reform and disability activism, we can lift each other up.
other people with rare diseases, i love you!
