Ehlers-Danlos syndrome: Overcoming doctor bias for a life-changing diagnosis

“Do you have Ehlers-Danlos syndrome?”

It wasn’t a question I expected during an ophthalmology appointment. It was, however, one I’d been asked before. Two other specialists had suggested I might have connective tissue issues, but nothing had ever come of it. All I could tell my ophthalmologist, then, was what I’d said before when it had come up: “No, not as far as I know, but I’ll ask about it.”

I dutifully brought the question back to my rheumatologist, who brushed it off with, “Most women are flexible.” She didn’t do any assessments; she just dismissed the query out of hand, and I knew it – but I was far too exhausted to persist. I was already overwhelmed by the other medical concerns I had, such as CVID and cardiac issues, and I didn’t need one more thing to worry about.

My ophthalmologist didn’t let the issue go. She asked me about it again at our next appointment six months later. When I relayed the rheumatologist’s response she shook her head, insisted on keeping “possible Ehlers-Danlos” in her notes, and encouraged me to continue pursuing it.

The next time I saw my rheumatologist, I again brought up the subject. If something was affecting my vision, I needed to know. She rolled her eyes, and her progress note read, “An option is concerned,” but she made the referral. My records were submitted to the clinical genetics department at a major university hospital, they agreed to see me, and I eventually ended up with a diagnosis of type 3 Ehlers-Danlos syndrome (hEDS). My ophthalmologist was right.

Thankfully, the hEDS diagnosis has not been a paradigm shift. My cardiologist ordered an aorta scan just to be safe. I’ve continued to attend ophthalmology appointments several times a year. Some of the ocular issues I have are indeed more common with hEDS; others are not. It has changed one aspect of ongoing care: I’m often in physical therapy for one orthopedic issue or another, and I’ve become mindful about going to PTs who understand hEDS and help me avoid hyperextending my joints.

It has also provided additional context for an ongoing, puzzling issue. Over the years I’ve needed more local anesthetic than anticipated for dental procedures and biopsies on body parts ranging from lips to feet. It’s double trouble: natural redheads and people with EDS are both documented to have difficulties with local anesthetics and pain control. Thus, my diagnosis is potentially useful information for a doctor if another biopsy is coming up.

That is if the doctor doesn’t snarl at the mere mention of EDS.

If a doctor doesn’t already know me, their attitude often discernibly changes for the worse if EDS comes up. It’s very obvious, utter contempt the minute it’s mentioned. And it isn’t my imagination: there have been studies citing negative clinician attitudes toward EDS as a barrier to care and a contributing factor to patient trauma. Public figures with EDS have even been accused of Munchausen’s.

Unfortunately, a recent staffing shakeup at the hospital system I use and the endless revolving door of residents at most specialist appointments have forced me to face that scenario far more often than I’d like, and it hasn’t gone well. One new doctor ignored progress notes and an MRI showing a visible problem in my foot and wrote, “Patient is very anxious; something is wrong” in my chart. The ‘something’ was tenosynovitis and a mass requiring surgical removal. I encountered a resident who snarked, “And do you have CRPS too?” (no). There have been eye rolls. Thus, I’ve quickly learned to avoid mentioning hEDS if it’s in any way possible. Unfortunately, when we’re talking orthopedics, it’s necessary information. I always quickly give them the names of the clinical geneticist and hospital where I was diagnosed in the hopes they will understand it’s legit.

It’s puzzling that EDS has become such a pariah. Is it a chronic illness thing? A complex patient thing? I’m not too sure. I also have CVID, which has an ornery entourage of comorbidities ranging from gastrointestinal upset to lymphoma. Most doctors I meet aren’t intimately familiar with CVID, but they still understand it’s a serious ongoing concern and don’t treat it with hostility.

hEDS admittedly is a diagnosis found among some questionable “sickfluencers,” but one wonders why medical professionals would allow TikTok to cloud their judgment to the point of condemning an entire patient population out of hand. EDS isn’t new; it was identified as a distinct entity in 1901. Genes have been identified for twelve of the thirteen types of EDS, with research actively underway to find more. hEDS’ has neither an identified genetic marker nor a definitive lab test, but that’s the case with many other conditions. There’s also a long list of diagnostic criteria beyond the Beighton score.

Negative perceptions of EDS are harmful to patients with real symptoms who need their doctors in their corners. It delays diagnosis and impedes care. People like me are left tiptoeing through a minefield of practitioner prejudice, hiding diagnoses in order to be taken seriously. And that shouldn’t be. Ehlers-Danlos syndrome is real. It would be nice if it was treated that way.

While scanning childhood photos, I’ve come across numerous images that should have, perhaps, raised red flags back in the day. In a ballet photo, my knees are so hyperextended that the patellas appear flat. On the playground, my elbows are going the wrong way. In many photos, my feet and legs are turned inward.

I wonder what would have happened if anyone at all had noticed and dug deeper. Would it have made a positive difference for that girl? Would she still have had knee surgery and permanent orthopedic injuries by age 21? Given what I’ve experienced, all I can think is that she would’ve been saddled with a diagnosis that automatically lowered her standing with some doctors, and it would have just made things even harder for her. Perhaps it was better she didn’t know.

Denise Reich is a patient advocate.

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