My 22-year Journey to Diagnosis

Ten years ago, at age 22, I was diagnosed with Ehlers-Danlos syndromes (EDS). I’d known there was something “wrong” with me long before I was 22, but despite having a doctor in the family who had been trying to figure out the mystery with several colleagues since I was about 10, the diagnosis eluded them all.

I had terrible bruising for as long as I can remember. I’d get banged up in soccer, and my entire leg, from the knee down, would wind up black and blue, all the way around. That was the main mystery we were trying to solve. Other EDS symptoms we didn’t yet know were related were chronic fatigue, digestive upset, asthma, and my frustrating propensity to be injured pretty much all the time. We’d gotten close to the diagnosis, danced around it, and found out a lot of things that I most definitely didn’t have. But pinpointing EDS was another matter entirely.

I visited my doctor’s colleague at Georgetown University, and he suspected I had EDS. He referred me to Johns Hopkins Hospital, one of the only hospitals in the country with research specializing in EDS and its “sister” syndrome, Marfan. A few months later, the diagnosis was confirmed.

The Johns Hopkins doctor asked many questions that I don’t really remember and then mostly looked at physical clues: my knees and elbows hyperextend when straightened; the roof of my mouth is exceptionally high; and I have just about the flattest, most archless feet you’ve ever seen. Another symptom is my skin’s texture, which supposedly is particularly soft and has a different structural feel. (I can’t feel the difference, but my massage therapist says she can tell.) Those clues, combined with the doctor’s questions, led to the diagnosis.

Yup, EDS. Yup, it’s on the Genetic and Rare Diseases Information Center’s list of rare diseases. Oh, and did I mention that it’s a genetically dominant disorder and yet no one else in my family has it? I was told during diagnosis that I was one of less than 10 percent of people diagnosed without a family history. I’ve since learned that more recent research puts the number of those diagnosed without a family history of EDS at around 50 percent.

More than anything, I was relieved. At least I finally knew what exactly caused the constant fatigue, outrageous bruising, and litany of injuries that had plagued me growing up. The main immediate impact, though, was that I was told I shouldn’t be playing any contact sports. Seriously? I mean it makes obvious sense, of course, but that doesn’t mean I was happy about it.

From a young age, soccer was my life; and not just soccer, but boys soccer. Back in the 1990s, girls soccer was still too “froofy,” and I hated being treated differently. So, I played on boys teams my entire life. I was typically the only girl in the league and therefore a constant target for the other team. It turns out that teenage boys don’t tend to take particularly well to being beaten by a girl in front of their friends.

I’d been playing soccer since I was 6 and coaching it since I was 12, so I decided to stay involved by continuing to coach even though I was no longer supposed to play. That lasted for a few years, until I simply couldn’t handle being around the sport I loved but couldn’t play; I realized that I would be happier if I walked away.

At the same time, while away at college, I got into horseback riding. Many people do something financially irresponsible when they graduate, like buy a car. Me? I bought a horse. So, while my life in soccer was winding down, my life in the equestrian world was just beginning. And that, it turns out, was a turning point in my life.

Through this column, I will share how I’ve learned to best manage my EDS through trial and error. I’m lucky that my case is in the range of mild to moderate, I’m able to continue with many activities that I enjoy, and I’ve found ways to modify other activities when necessary. Both my mental and physical well-being are greatly enhanced and tied into my experience as an equestrian — you’ll probably get to know my horses as well as you get to know me through this column! I’m excited to share my experiences of living with EDS both in the everyday world as well as in my life on the farm.

Be sure to check out my latest musings every Thursday!

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Note: Ehlers-Danlos News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Ehlers-Danlos News or its parent company, Bionews Services, and are intended to spark discussion about issues pertaining to Ehlers-Danlos.