Rare Disease Day 2k16

Rare Disease Day is the one day a year I get to feel special.

Okay. No. I prefer self-deprecation over ego-inflation. But seriously, as a person with Ehlers-Danlos Syndrome-HT, this day is pretty important to me. Ehlers-Danlos is still classified as a rare disorder. I didn’t have ‘confirmation’ that I had EDS-HT until November 2015. But I had suspected for almost two years prior to my diagnosis. Fortunately, I had a jaw specialist put the puzzle pieces together, indicating it was fairly likely I had some type of EDS – only a geneticist or rheumatologist with education in Ehlers-Danlos can clinically and genetically evaluate for EDS. Prior to seeing her, I was a medical mystery, presenting with vague and challenging symptoms, a broken medical history and a desperation to get well.

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Because this disorder is considered rare, unfortunately, general physicians aren’t really taught to fully consider the impact of a multi-system disorder. This is an institutionalized problem in the medical field. We are called zebras. Fuck, even our symbolic awareness color for Ehlers-Danlos is zebra print.

Why?

When you hear hoof-beats, think horses – not zebras.

This little mental shortcut is nice in theory. I mean, you don’t want to assume every person in the ER or doctor’s office with a tummy ache has rare disorders, or diseases. It would take too long to test every single case. It would cost too much. But the problem is anyone who is rare has become accepted collateral damage. This theory sucks for us.

It took over eight years for my fucking diagnosis.

EIGHT. YEARS.

Take a moment to imagine living with what feels like a flu, magnified by 10, every single fucking day for eight years without any rhyme or reason. Take a moment to imagine being told a list of humiliating and dehumanizing things:

  • You’re a woman. You’re supposed to be in pain.
  • You’re just depressed.
  • You’re just stressed.
  • I don’t really think there is anything wrong with you.
  • You’re probably fine.
  • You have anxiety. Deal with it.
  • I can refer you to a psychiatrist.
  • I can’t give you pain medicine for that.
  • I don’t feel comfortable treating you.
  • You know, I can tell there is something going on, but I really don’t know what. Your tests are fine.

It isn’t really the fault of my various doctors. It’s the education. It’s what they are being taught in school. They are taught rare means almost never. And this cultural idea that a patient can’t be informed, educated, science-skilled and qualified perpetuates the misinformed idea that rare = almost never.

The funny thing is, since I’ve known I had EDS, I have remembered moments of my childhood that indicated I was sick (even though my symptoms hadn’t quite reached supernova). I think I was like seven or eight. We had this little trashcan under our sink. And it was my job to take it out to the dumpster. There was a can in the small, thin plastic bag. As I carried it down the flights of stairs and out into the street, as I walked towards the dumpster, I bumped the bag against my leg. The can sliced out a pretty nice chunk of flesh. The scar that formed was… disgusting to say the least. For years, I was so ashamed of the nasty scar on my right knee. At first, it was this icky purple-y color and raised.

It looked sorta like this.

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It took over a decade for that scar to smooth out and completely heal. That is typical of EDS patients with skin manifestations. Some scars will always be hypertrophic. And my legs always hurt as a kid. I don’t mean sort of. They hurt so bad at night, sometimes I’d cry myself to sleep. But it was always called growing pains – which I still have, not every day, but a few times a week. And the first time my jaw dislocated out of socket? Yeah, no that was fun (just kidding, I rolled my eyes back so far I’m blind now, and yes I can totally type without looking).

Anyways, all these little things I remember make so much damn sense now that I know I’m rare, now that I know I have Ehlers-Danlos. Imagine if someone with a trained eye noticed when I was a kid? The heartache, the grief, the pain, the dismissal, the marginalization, the confusion, the gaslighting, the doubt – all of that could have been avoided. That’s why Rare Disease Day 2k16 is important to me.

Remember me when I die. I am rare. But I, no we, will not be silent. We will be heard. You love someone who is rare, please never forget.