I was misdiagnosed for 12 years before I heard about a rare genetic disease
By Adele Espy
Starting in 2010, I started collecting diagnoses like candy. After recovering from leg surgery (due to an injury from over-training in skiing) I started involuntarily throwing up everything I ate or drank…and it didn’t go away. stopped since.
At the time, I was a cross-country skier trying to compete in the 2014 Olympics.
I was one of the fastest junior skiers in the country. My coaches were two men in their 60s who had been best friends since they were young. They had a long history of coaching US and Canadian ski teams.
I respected these two men and loved them deeply for investing in me and believing in my dream.
After racing in Germany at 19 and having a terrible flare-up of overuse injuries in both legs, I chose to carry on and go race in Switzerland with the team. However, my body had other plans.
One night I was doing push-ups in the cabana we were renting, and all of a sudden my rib cracked and I fell on my face screaming in pain. So I flew home and had surgery on my lower leg and rested my broken rib.
After that, I grew sicker and sicker and saw my Olympic dream crumble, my hopes of having children dimmed and my desire to feel better beaten.
I acquired so many misdiagnoses because no one could even remotely explain my symptoms from what my imaging, tests, and studies showed.
For twelve and a half years I went from one doctor to another, exhausting all their options, and then I was considered a psychiatric case.
I’ve been to treatment centers 13 times for a serious eating disorder which I don’t deny is real, but which started because I couldn’t keep my food down, as well as following a trauma infant.
When I sought medical help for the vomiting, I was diagnosed with mild idiopathic gastroparesis and colonic inertia. I prescribed laxatives and a motor aid.
None of these worked and I was left constipated, in abdominal agony from cramps, vomiting and rashes from the number of laxatives I had to take to relieve my bowels.
Then the vomiting was called rumination syndrome and I was told to breathe differently as I “regurgitated”. However, I did not regurgitate, as the vomit was sometimes a projectile and I was unable to hold it in my mouth.
In the treatment centers, I was asked to swallow the vomit.
When nothing was working to stop my vomiting and my rapid weight loss, a gastroenterologist at the Mayo Clinic suggested I get an ileostomy to relieve severe abdominal pain from a non-functioning colon.
I had surgery in 2017 and, with minimal complications, I have suffered much less since. But unfortunately it didn’t affect the vomiting.
In 2019, I was diagnosed with Cyclic Vomiting Syndrome and told to complete a chart detailing emotions, feelings, and situations before, during, and after an episode.
I was locked in a room alone for three weeks when I was supposed to “unlearn” vomiting. I was forced to clean my own vomit from the floor while still actively drying off because it was supposed to teach me to stop vomiting on purpose. But that was not the case.
In 2019, I had surgery for a jejunostomy feeding tube that goes into my small intestine, and I was tube fed, but struggled with pain and cramping.
I also couldn’t increase the volume to a decent amount of calories because my intestines would hurt so much and I would start throwing up bile. I could vomit up to 30 times a day. It was absurd.
In 2020, I was hospitalized in Colorado and met another patient who came from Boston. I immediately thought she was cool, and we started getting to know each other.
She told me she had a genetic condition called Ehlers-Danlos syndrome which makes your collagen defective.
She pointed out a bunch of little things in my body that were typical of someone with the disease. I was curious enough to ask her the name of her geneticist because I live in Maine and Boston is within driving distance.
I called the office, thinking I would be on a waiting list for years, and they got me to see the doctor in just three weeks.
After being fired from the program for not meeting their criteria, I met with the geneticist. He diagnosed me with Ehlers-Danlos syndrome of the hypermobility type.
I had a bunch of comorbidities, such as POTS (postural orthostatic tachycardia syndrome), MCAS (mast cell activation syndrome), CFS/ME (chronic fatigue syndrome) and autoimmune disease (Hashimoto’s disease), inertia colic and moderate gastroparesis.
Suddenly, the bits of my confusing medical history started to make sense.
I was referred to a gastroenterologist who helped me feel more comfortable by switching me to a G/J tube (which was a little surgery for a lot of relief). It allowed me to drain bile and acid from my stomach and nourish myself in my intestines.
However, my intestines stopped absorbing tube feeding and I lost a lot of weight and became emaciated again.
A year ago I switched to TPN via a PICC line in my upper arm – I had several, and now a Hickman Central line in my chest feeds me. I had another jejunostomy operation when I continually vomited my G/J tube because I still need the tube for the meds.
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At that time, we replaced my G/J tube with a straight G so I could drain more volume faster. I wear a urinary self-catheter bag around my leg that attaches to my G-tube to drain anything in my stomach. My J-tube is just for meds, but without it I end up hospitalized.
I finally feel heard, seen, valued and considered.
I’m not just being dismissed as a “chronically ill” (rolls his eyes) and mentally unstable patient who ends up in the ER every few weeks for some random problem, like throwing up a feeding tube, or passing out and fainting. bump your head.
No one is sending me to another treatment center or locking me up in an institution, although that might be a good idea, if I think about it…
Patients with Ehlers-Danlos Syndrome (EDS) are often misdiagnosed several times before realizing they have EDS.
Patients with EDS are repeatedly treated as if our pain and symptoms are all in our heads. We often get fired because the doctors just don’t know, but to save face they blame us for somehow causing the problem.
If there’s one thing I want people with undiagnosed EDS to know, it’s that you know your body best… That’s it. Trust your experience.
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Adele Espy is a writer whose work has been featured in Unwritten, MSN and The Mighty. She primarily writes about health and wellness, sexuality, and self-care. To visit his author profile on Unwritten to learn more.
This article was originally published on Unwritten. Reprinted with permission from the author.