I Was Misdiagnosed For 12 Years Before Hearing About A Rare Genetic Condition

Starting in 2010, I started collecting diagnoses like candy. After recovering from leg surgery (due to an injury from over-training in skateboarding), I started vomiting involuntarily everything I ate or drank…and it hasn’t stopped since.

At the time, I was a cross country skier trying to compete in the 2014 Olympics.

I was one of the fastest beginner skiers in the country. My trainers were two guys in their 70s who had been good friends since they were young. They have a long history of coaching American and Canadian ski teams. I respected and loved these two men so much that they invested in me and my belief in my dream.

After racing in Germany at the age of 19, and after sustaining a severe injury to both legs, I chose to go ahead and race in Switzerland with the team. However, my body had other plans. One night, I was doing push-ups in the cabin we were renting, and suddenly my ribs cracked and I fell on my face, screaming in pain. So I went home and had surgery on my lower leg, and I comforted my broken rib.

After that, I got sicker and sicker, and watched my Olympic dream crumble, my hopes of having children, and my desire to feel a better beat. I gained so many misdiagnoses because no one could explain my symptoms, even from a distance, that the imaging, tests, and studies had shown.

For twelve and a half years, I switched from one doctor to another, exhausting all their options, and then was written off as a psychiatric condition.

I’ve been to treatment centers thirteen times because of a severe eating disorder that I don’t deny is real, but it started as a result of my inability to keep my food down, as well as as a result of childhood trauma.

When I sought medical help for vomiting, I was diagnosed with idiopathic mild gastroparesis and insufficiency of the colon. I was prescribed laxatives and movement aids. None of those worked, and I remained constipated, with abdominal pain from cramps and vomiting and bowel bursting from the number of laxatives I had to take to ease my bowels.

After that, vomiting was called rumination syndrome and I was instructed to breathe differently while I was “vomiting”. However, I wasn’t vomiting, because the vomit was sometimes projectile and I couldn’t hold it in my mouth. In treatment centers, I was instructed to swallow the vomit.

When nothing was working to stop my vomiting and rapid weight loss, a Mayo Clinic gastroenterologist suggested I get an ileostomy to relieve severe abdominal pain from a colon that’s not working. I had surgery in 2017, and with minimal complications, I’ve lived in much less pain since then. But unfortunately, this did not affect vomiting.

In 2019, I was diagnosed with cyclic vomiting syndrome and asked to fill in an outline of emotions, feelings, and situations before, during, and after the seizure.

I stayed in a room on my own for three weeks while I supposedly “didn’t learn” from vomiting.

I had to clean my vomit off the floor while I was still actively dry, because it was supposed to teach me to stop vomiting on purpose. But she didn’t.

In 2019, I had surgery for a jejunostomy feeding tube going into my small intestine, I was tube-fed, but experienced pain and cramping. I also wasn’t able to increase the volume to an appropriate amount of calories because my intestines would be in so much pain, and I would start vomiting bile. I can vomit up to 30 times a day. That was silly.

In 2020, I was an inpatient in Colorado, and I met another patient who was from Boston. I immediately thought it was great, and we started getting to know each other.

She told me she has a genetic condition called Ehlers-Danlos Syndrome that makes your collagen defective.

She pointed to a bunch of little things in my body that were typical of someone with this condition. I was curious enough to ask her for the geneticist’s name because I live in Maine, and Boston is just a short drive away. I called the office, thinking I’d be on a waiting list for years, and they put me in to see a doctor in just three weeks.

After being discharged from the program for failing to meet their criteria, I met with a geneticist. He diagnosed me with Ehlers-Danlos syndrome of the hyperkinetic type. I had a range of comorbidities, such as POTS (postural orthostatic tachycardia syndrome), MCAS (mast cell activation syndrome), CFS/ME (chronic fatigue syndrome), autoimmune disease (Hashimoto), insufficiency of the colon, and mild gastroparesis.

Suddenly parts of my confusing health history made sense.

I was directed to a gastroenterologist who helped me feel more comfortable by switching to a G/J tube (which was a small surgery for a lot of relief). It allowed me to drain the bile and acid from my stomach and feed my intestines. However, my gut stopped absorbing tube feeding and I lost a lot of weight and became lean again.

A year ago, I was switched to TPN through a PICC line in my upper arm – I had it several times, and now the Hickman Central line is feeding me into my chest. I had the jejunostomy surgery again when I was constantly throwing away the G/J tube, because I still needed the medication tube.

At the time, we switched my G/J tube to a straight G so I could drain more volume faster. I wear a self-catheter bag around my leg attached to a G-tube to drain anything in my stomach. My J-tube is for medication only, but without it I end up in the hospital.

I finally felt heard, seen, appreciated, and considered.

I’m not being ignored simply because I’m a “chronic patient” (rolling eyes) and a mentally unstable patient who ends up in the emergency room every few weeks due to some random issue, like throwing out a feeding tube, or fainting and hitting my head. Nobody sends me to another treatment center or locks me up in an institution, although that would probably be a good idea, if you think about it…

Patients with Ehlers-Danlos syndrome (EDS) are often misdiagnosed multiple times before they are discovered to have EDS.

EDS patients are frequently treated as if our pain and symptoms were all in our head.

We are often fired because doctors simply don’t know, but to save face, they somehow blame us for causing the problem.

If there’s one thing I want people with undiagnosed EDS to know, it’s that you know your body well…that’s it. Trust your experience.

Photo by Adrian “Rosco” Stef on Unsplash

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