Rare or rarely thought of?

It’s rare disease day. I have mixed feelings about participating in rare disease day because my “disease” is not that rare.

I have Ehlers Danlos Syndrome (EDS), a disorder of connective tissue called collagen. The type I was diagnosed with when I was in my early 40s has no specific lab test or imaging to confirm the clinical diagnosis. The diagnosis is based on factors like clinical presentation, family history, and the geneticist doing stuff like measuring your arm to head ratio or something. I’ve always had “signs of tallness”. For someone who’s a mere 5 feet 4 inches tall, I’ve been told I look taller. This is due to the relative lengths and proportions of my body. It turns out that’s important for this diagnosis.

I do have a mutation on the gene that encodes for the vascular type of EDS, but the geneticist says that it is probably not an important mutation. That means I shouldn’t be too worried that my aorta will explode or fall apart. I mostly need to be concerned that my joints pull apart and go back together with increasing reluctance as I age, and that my ligaments and pedicles and various little fiddly inside bits are going to stretch out, flop around, torse, prolapse, tear.

Because EDS is a genetic thing, I’ve had it all my life. It’s probably why I was a kinda sick kid, not super duper sick like the kids I saw on the pediatric GI unit when I worked as a medical secretary, but sick enough that we shared a GI specialist.

In addition to having lots of random leg and foot pain, falling a lot, and having stomach issues, I also fainted with some frequency all my life. I fainted more when I was younger and less quick to listen to my body, and when I was more likely to try to accommodate others’ preferences instead of my needs. “You don’t need to lie down for this blood draw…” has said more than one phlebotomist, who then had to scrape me off the floor.

I found out much later in life that problems with the autonomic nervous system go with EDS. The connection between some autonomic issues like low blood pressure are more clear cut – I’m told to think of it like this: my blood vessels are less elastic than they ought to be, so there’s less vasoconstriction (appropriate, necessary constriction). This means I get low blood pressure, or a tendency for blood to pool in my legs when I’m upright, which means it’s not going to my head, which will make me pass out eventually. However, with some of the other autonomic stuff, it’s not so clear what EDS has to do with it, like not sweating enough to cool myself off when it’s hot. However, whether or not a really direct cause and effect relationship can be made, there’s enough of a connection that when someone is diagnosed with EDS, they are usually told about and sometimes even screened for autonomic manifestations.

Not having a diagnosis of EDS and not having a diagnosis of dysautonomia meant a lot of medical mistreatment for most of my life. Especially since when I pass out, I convulse. I was told as a teen that I was having seizures (like “you have epilepsy” seizures). The neurologist, Dr. Silken in Newton Massachusetts (who is still practicing, btw) tried to get me to take antiseizure meds despite the EEGs never showing anything. I told him when he could show me an abnormal EEG, I would try the meds. Until then, I was of the opinion that he and every other adult pushing those meds on me could eff right off. Consequently, I wasn’t allowed to drive until I was “seizure-free” for more than 6 months. As an adolescent, it was hard to manage that. PS, no one thought to check my blood sugar. It turns out the autonomic nervous system has some say over that too. I figured out on my own, years before I ever heard of dysautonomia or EDS, that as with all folks, sometimes my blood sugar would get low. However, my body does a shitty job engaging the processes that are supposed engage automatically¬† to to bring my blood sugar back up, letting me instead pass out in the grossest, slow-mo ugliest ways possible, usually in public, like at a restaurant or in the high school cafeteria. I sometimes wonder if I should write to all the former doctors I had who missed this, who didn’t even think to check my blood sugar, with a “thanks for nothing” note.

Well. That’s it. I’m 47 and I spent most of my life with the wrong diagnoses, inadequate treatments, sometimes straight up inappropriate or harmful treatments, and lots and lots of accumulated medical trauma, largely because what I have – while not rare – is rarely considered.

Connective tissue diseases are not that rare. Dysautonomia isn’t rare, it’s a consequence of many different diseases and syndromes. The various forms of autonomic problems I have are not that rare. Convulsive syncope isn’t rare.

Nothing I have is all that rare, but unfortunately pretty much everything I have is rarely thought of. So I think I’ll celebrate rarely thought of disease day instead. It’s much more appropriate for me.

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