The Two Words Doctors Need to Diagnose Rare Conditions, or How I Learned I was a Zebra

The best doctor I’ve ever had sometimes keeps me waiting for more than 20 minutes past our scheduled appointment time. He’s not financially successful compared to other physicians his age. He’s goofy, and loose; older patients might find his bedside manner a bit too casual.

And he’s the only medical or health professional in over three decades of illness and dis-ease to suggest the umbrella diagnosis that captured so many of my problems.

I have Ehlers-Danlos Syndrome, Hypermobility type. (There are six other types, some similar, some far worse than mine, like the vascular type where you’re at risk of organs rupturing). The hypermobility type of Ehlers-Danlos Syndrome (EDS) means that my body doesn’t produce enough collagen to keep my joints stable. To “help,” my muscles seize up to prevent my body from collapsing into a pile of flesh and bones, apparently.

Every day is different, a Roulette wheel of painful possibilities. Today, it hurts to breath because my left shoulder blade and a rib are “out” and the surrounding muscles are spasming. (Feels like I should go get an EKG, and the anxiety about that — that I’ll miss something deadly amidst all this corporeal craziness — is another layer of mental and emotional sludge to work through.)

Lack of collagen plays out in other systems of the body as well. My eye doctor showed me cracks at the back of my retina, saying this is “common in patients with EDS.”

My allergist noted that the odd gastrointestinal (GI) issues I suffer from off and on for months at a time may be a perpetual problem with no identifiable cause other than EDS: apparently the chronic inflammation from EDS causes transient food sensitivities. In addition, when my spine or ribs are out, my GI system is compromised then too, likely because nerves serving those areas are restricted. Chronic reflux (GERD) is likely my esophageal sphincter being too loose from lack of collagen.

And, all those belly and butt dimples and rolls of loose skin after a couple pregnancies? My skin deciding not to bounce back, like a balloon that’s been blown up and deflated a handful of times and loses the ability to return to its original form (even more so than most women’s bodies).

Sometimes my fingertips or the corners of my mouth crack open. The roof of my mouth gets totally shredded from eating a sandwich on crusty bread. EDS may be why my subchorionic (inside uterine lining) hemorrhage wouldn’t resolve (stop bleeding), resulting in the early demise of my infant son.

But the most constant issue — the every day issue — is how wonky my musculoskeletal system is.

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A representation of my spine on a bad day. Photo by David Marcu on Unsplash

Why didn’t anyone think of EDS when they looked down the problems list in my medical chart (which included all of the above and more)? When they manipulated my bones back into place over and over again for years, only to have the adjustment last a mere 10 or 15 minutes? When the “problem” joint changed so frequently, and included every joint over the course of a few years? Repeat each of these scenarios with several practitioners who were long-term providers of mine, and then again with dozens of shorter duration. Over three freaking decades.

I’ve been diagnosed with GERD, fibromyalgia, TMJ, and chronic fatigue syndrome, all of which are accurate and associated with EDS. PTSD, depression, anxiety — also associated with a debilitating physical condition which changes dramatically and unpredictably from day to day.

I’ve been tested for lupus, Lyme disease, MS, various blood disorders, numerous thyroid issues, sleep disorders, heart problems, and so, so many other diagnoses.

My immune system is fragile if I try to do too much (an amount which most people breeze through), likely due to the start-and-stop inflammation in my body as well as the emotional stress of chronic pain, and the blockage of lymph/blood/chi/prana/etc that is omnipresent with constant subluxations: I often spend weeks recovering from traveling or from a minor illness. I got shingles in a period of acute stress, twice, over four years, an oddity for someone my age.

The extreme and constant pain? The subluxations so severe I couldn’t get into my car? So bad I had to cancel a helicopter ride into the back-country of Mt. Rainier, where I’d be dropped for backpacking? (For work, no less!) Despite the continual mention of these and other issues at every visit with every physician, naturopath, chiropractor, massage therapist, mental health therapist, occupational therapist, and physical therapist over three decades, no one delved into this until Dr. H.

And, honestly, he didn’t so much delve into this, as he simply delves as part of his patient care.

And that’s where the problem lies with the U.S. medical system. Where the American medical establishment, as it currently operates, fails us all.

Unless you are a doctor or have a rare condition, you might be unfamiliar with the idea of looking for horses instead of zebras. Basically, it’s about making assumptions based on statistics (and we know what it is to assume, don’t we?): if it looks like a horse, and sounds like a horse, don’t look for a zebra.

So, every physician diagnosed the most-simple problem or the one that made sense to her or his specialty. The orthodontist noted TMJ when my jaw was so subluxed my mouth would only open about half an inch. The athletic trainer worked on the sprained ankles, prescribed the knee braces when my knee caps “tracked incorrectly.” The PTs and chiropractors noted and tried to correct my “leg length discrepancy.” The occupational therapist worked on my wrists. Then there was the fibromyalgia, the GERD, the bleeding, the everything else. Everything was viewed in isolation from the rest of my body.

And this is not the doctors’ faults, in large part. First, they are taught to look for horses, not zebras, which of course makes sense. Until the horse keeps coming back saying, “hey, what about these stripes?”

The real fault lies, I believe, in the current medical model, which includes how insurance reimburses clinics, hospitals, and physicians. And, the fact that most clinics and insurance companies are for-profit entities. For profit first, as in squeezing as many patients as possible into a day, so docs have to go with the Cliffs Notes version of the patient’s health and then snatch the most likely possibility.

Forget about any time for the physician to actually research other options (“differential diagnoses”) that better fit your symptoms and health profile.

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An enviably straight spine, am I right? Photo by Karim MANJRA on Unsplash

Dr. H, was in fact, fired from the clinic where I established care with him, for “taking too much time with patients.” Luckily, a smarter clinic in town snatched him up, recognizing his brilliance and reputation, which attracted a loyal and steady patient (and revenue) stream.

Here’s one of many factors that make Dr. H special: he asks “what else?” And I tell him. And then he asks, “what else?” And I describe that issue. Then he says, “what else?” And this goes on until I can’t think of any other health issues or experiences, positive or negative, that have happened since I last saw him. He does a brief check in each time about home life — money and marriage and kids, because stress underlies and exacerbates most medical conditions. Yet so few doctors ask about any of it.

Thus, Dr. H is the only doctor who got enough of the picture to see something new. It still might not have looked like a zebra right away, but he had way more of the picture than the one hoof which every other health professional called a horse. The others might have discovered four separate hooves on four separate visits and written four separate clinical notes…which all still supported a zebra they didn’t see.

Here’s why Dr. H bucks the medical system to try to serve patients in a way that far surpasses any other doc I’ve seen for my issues or worked with in my years as a clinical dietitian: he has his own rare medical condition, a condition that took many years to diagnose (even when his social circle and peer group were the medical community) and which retired him from medicine for 10 years, from his early 40s to his early 50s, including many years on disability. His condition is incurable, caused extreme exhaustion and decreased immune function, and led to massive depression.

Now, this is my kind of guy! Of course, we can’t require physicians to undergo a dramatic medical issue in order to impart some empathy and greater investment in their patients. In fact, many docs — and lay folks— without an empathetic bent won’t necessarily gain it from a tough experience.

But, boy, empathy and a persistence in investigating the problems go a long way. It’s demoralizing to continue to try to unravel the huge ball of tangled barbed wire that is a complex medical condition, especially when you see yet-another physician who wants to look at a single barb, rather than how it’s connected to the whole mess. It’s isolating and crazy making. Empathy even by itself is a healing balm that can sheer a bit of harshness from the mass.

Dr. H never treats me like all my “unrelated” symptoms are irrelevant, which is the vibe I’ve gotten dozens of times when what I’m experiencing doesn’t tidily fit into a common diagnosis. He looks at one possibility, saying “if it’s not this, we’ll keep looking, because it is something.”

I love this; I feel validated and less alone — I have a team member! Someone who believes the patient knows more about her own body than he does, that it’s his job to root out the catalyst of the symptom, and the first, easiest guess isn’t going to prove true for all or even most of his patients.

And all you remarkable doctors out there: remember there are millions of people in the US who have been diagnosed with rare conditions. The National Organization of Rare Diseases (rarediseases.org) reports that one in 10 Americans suffers from a rare disease. Surely, innumerable people are suffering from these conditions undiagnosed — all the issues on their medical-problems list drifting about in isolation, when they could be ringed together in a Venn Diagram overlap with the rare condition in the center, the key to getting adequate and appropriate treatment.

Docs, please advocate for more time with your patients and more time to learn about rare conditions. Journal-club your way through some of these syndromes, invite those of us with rare medical issues to share our experiences with your practice group. Help us! Please! Learn more so you can help us! Please, don’t let the next zebra who walks into your office get treated like a horse for thirty years.

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Me on the mystery-illness wasteland, before EDS diagnosis. Photo by Marcus Löfvenberg on Unsplash

Now that EDS is in my medical chart, nearly every medical professional I see has a tiny bit of knowledge about how her or his specialty interplays with EDS in my overall health landscape. Finally knowing the diagnosis not only explains so many of the sub-diagnoses I’ve been managing for decades, but helps me learn more about my body (cracked retinas!) and what I should watch for in the future (early arthritis).

And, I’ve finally found a physical therapy team who know how to work with EDS, and have actually had a dozen or more pain-free days in the past eight months, a couple times even three days in a row!!

If this seems insignificant to you, you are so, so lucky. Me, I am hopeful. If I can afford to keep working with these two smart women for the next few years, I’m optimistic I’ll be able to do some things (backpack!) that I haven’t done in a decade, some things (dancing) I’d like to do more, and maybe some things I’ve never been able to do before (sky’s the limit!).

(As of today as I revise this, sadly, my amazing PT has moved to a higher-paying clinic an hour away and no other PT in that practice has any experience in EDS. Back to the search for good care.)

So, when my neck goes out from washing my hair, or a rib pops out with a sneeze, or I have to lay on my back for 20 minutes of every hour I’m trying to work at my desk (with it’s standing option and ergonomic keyboard) in order to keep my hips level and my spine aligned, at least I know what’s going on now. I’m not crazy, I’m not a hypochondriac, and I’m not an attention seeker. I’m a zebra.

And it’s thanks to Dr. H and his “what else?” that I know it. And for that I’m grateful.

Writer for hire, for fun, and from the necessity of untangling my thoughts. The adage I cling to lately is "the first 40 years of childhood are the hardest."

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