I Was Misdiagnosed For 12 Years Before Hearing About A Rare Genetic Condition
I finally feel heard, seen, valued, and considered.
Cryptographer / shutterstock By Adele Espy
Starting in 2010, I began collecting diagnoses like candy. After recovering from leg surgery (due to an overuse injury from excessive ski training), I started involuntarily vomiting everything I ate or drank... and it hasn’t stopped since.
At the time, I was a cross-country skier attempting to make the 2014 Olympics.
I was one of the fastest junior skiers in the country. My coaches were two men in their 70s who had been best friends since they were young. They had a long history of coaching the U.S. and Canadian ski teams.
I respected these two men and deeply loved them for investing in me and believing in my dream.
After racing in Germany at age 19, and having a terrible overuse injury flare in both legs, I chose to push on and go 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 all of a sudden my rib cracked and I fell on my face, screaming in pain. So I flew home and had lower leg surgery, and rested my broken rib.
After that, I became sicker and sicker and watched my Olympic dream crumble, my hopes of having kids tarnished, and my desire for feeling better battered.
I have acquired so many misdiagnoses because nobody could explain my symptoms, even remotely, from what my imaging, tests, and studies showed.
For twelve and a half years I went from one doctor to the next, exhausting all their options, and then being written off as a psychiatric case.
I’ve been to treatment centers 13 times for a severe eating disorder that I do not deny is real, but that started as a result of not being able to keep my food down, as well as a result of childhood trauma.
When I sought medical help for the vomiting, I was diagnosed with mild idiopathic gastroparesis and colonic inertia. I have prescribed laxatives and a motility aid.
Neither of those worked, and I remained constipated, in abdominal agony from cramping, vomiting, and having bowel blowouts from how many laxatives I had to take to relieve my bowels.
Next, the vomiting was called Rumination Syndrome and I was instructed to breathe differently while I was “regurgitating.” However, I wasn’t regurgitating, as the vomit was projectile at times and I was unable to hold it in my mouth.
In treatment centers, I was instructed to swallow the vomit down.
When nothing was working to stop my vomiting and rapid weight loss, a gastroenterologist at the Mayo Clinic suggested I get an ileostomy to relieve the intense abdominal pain from a colon that wasn’t working.
I had surgery in 2017, and with minimal complications, I’ve lived in so much less pain since. But unfortunately, it didn’t affect the vomiting.
In 2019, I was diagnosed with Cyclical Vomiting Syndrome and told to fill out a chart detailing emotions, feelings, and situations before, during, and after an episode.
I was shut in a room alone for three weeks while I supposedly “unlearned” vomiting. I was forced to clean my own vomit off the floor while still actively dry heaving because it was supposed to teach me to stop vomiting willfully. But it didn’t.
In 2019, I had surgery for a Jejunostomy feeding tube that goes into my small intestines, and I was tube fed but struggled with pain and cramping.
I also couldn’t get the volume up to a decent calorie amount because my intestines would be in so much pain, and I would start vomiting bile. I could vomit up to 30 times per day. It was absurd.
In 2020, I was inpatient in Colorado, and I met another patient who was 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 that makes your collagen defective.
She pointed out a bunch of little things in my body that were typical in someone with the condition. I was curious enough to ask her for her geneticist’s name because I live in Maine, and Boston is within driving distance.
I called the office, thinking I’d be on a waitlist for years, and they got me in to see the doctor in just three weeks.
After I was discharged from the program for failing to meet their criteria, I met with the geneticist. He diagnosed me with hypermobility type Ehlers-Danlos Syndrome.
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), Colonic Inertia, and moderate Gastroparesis.
Suddenly, the pieces of my confusing health history started making sense.
I was directed 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 feed through my intestines.
However, my intestines stopped absorbing the tube feed and I lost a bunch of weight and became emaciated yet again.
A year ago, I was switched to TPN through a PICC line in my upper arm(s) — I had multiple, and now a Hickman Central line in my chest feeds me. I had another Jejunostomy surgery when I continuously threw up my G/J tube because I still need the tube for medications.
At that time, we switched my G/J tube to a straight G so I could drain more volume faster. I wear a urine self-catheter bag around my leg that attaches to my G tube for draining anything in my stomach. My J tube is just for medications, but without it, I end up hospitalized.
I finally feel heard, seen, valued, and considered.
I’m not simply dismissed as the “chronically ill” (rolls eyes) and the mentally unstable patient who ends up in the ER every few weeks for some random issue, like throwing up a feeding tube, or fainting and hitting my head.
Nobody is sending me to another treatment center or locking me in an institution, despite that possibly being a good idea, if I think about it...
Patients with Ehlers-Danlos Syndrome (EDS) often are misdiagnosed multiple times before figuring out they have EDS.
EDS patients are repeatedly treated as if our pain and symptoms are all in our heads. We are often dismissed because the doctors simply don’t know, but to save face, they blame us for somehow causing the issue.
If there is one thing I want people with undiagnosed EDS to know, it’s that you know your body best... That’s it. Trust in your experience.
Adele Espy is a writer whose work has been featured in Unwritten, MSN, and The Mighty. She writes primarily about health and wellness, sexuality, and self-care. Visit her author profile on Unwritten for more.