Daily MOS: Day of the Zebra

The working title of the hit series House was ‘Chasing Zebras.’ This is from a saying in medicine, ‘when you hear hoofbeats, think horses, not zebras.’ The first assumption when evaluating a patient should generally be to lean towards an obvious, unsexy answer. After learning all the weird shit in med school, you’re going to have far more broken bones courtesy of physics than bones that disintegrated because an encampment of tropical mockingbird mites burrowing into a femur.

I live with an illness that has adopted the mascot of the zebra. Because so often, doctors see us zebras up close and can’t help but try to diagnose a striped horse.

Today’s Daily Moment of Science… The International Day of the Zebra.

Symptoms that resemble Ehlers Danlos Syndrome (EDS) have been recorded in medical literature dating back to Hippocrates. Jumping ahead to the turn of the twentieth century, Dr. Edvard Ehlers and Dr. Henri-Alexandre Danlos were separated by geography and brought together through their dermatology research into treating syphilis and leprosy.

But this isn’t a story about my case of leprosy. Next pandemic, kids.

Within a few years of each other, they each had patients with a cluster of symptoms that seemed related. In 1899, Ehlers presented at the Paris Society of Syphilogy and Dermatology hypothesizing that these symptoms were possibly all related. His patient’s joints were lax, skin was stretchy and velvety, and he experienced bleeds in his joint cavities. Nine years later, Danlos presented a similar case.

So now I have Ehlers Danlos Syndrome because those were the first two guys who figured out that maybe it’s not normal to be able to kiss your kneecaps without stretching. Cool.

EDS is a genetic disorder that affects your body’s ability to produce and repair connective tissue like collagen. To date, there are 13 recognized types of Ehlers Danlos Syndrome. It’s suspected to be under-diagnosed, but classical and hypermobile are the most common types. Symptoms common in several types of the disorder include scoliosis, heart valve problems, arterial rupture, neck instability, postural orthostatic tachycardia syndrome, and chiari malformation.

Think of your connective tissue kinda like duct tape; it works for goddamn everything and it’s holding your little universe together. Collagen and other tissues are affected differently in each subtype of EDS, but the punchline?

I got the off-brand fuct tape that doesn’t stick to shit.

Why is it the ‘zebra’ disorder? The first five, ten, forty-seven goddamn times you land in the hospital with issues related to this can all look like normal injuries. Frustratingly, one single incident related to EDS doesn’t look like or confirm EDS. A documented clinical history of it with a close examination does though, which is why it can take years to get a proper diagnosis.

Along with genetic testing for some types of EDS, evaluating a patient’s Beighton hypermobility score is standard practice for diagnosis. It’s a scale of 0-9, and for every stupid human trick your body can do, you get a point. Can you bend your thumb to touch your wrist? Do your knees or elbows bend backwards a smidge? With your knees locked straight, can you bend forward and touch your palms flat to the floor?

I can nearly touch my elbows to the floor.

A Beighton score of 4 or more is indicative of having a related disorder, Benign Joint Hypermobility Syndrome (BJHS). There is little clinical difference between the hypermobility type of EDS and BJHS. With no genetic test yet for this type of EDS, it’s a coin toss if a doctor is going to diagnose EDS or BJHS for the same set of symptoms.

So what does this all mean for everyday life? As with many chronic illnesses, some days I feel fine. I wake up and my back probably hurts from being 37, not from my faulty genetics. Some days I can go rock climbing or running or all those other things people do in valtrex commercials.

Then some days I shrug the wrong way and dislocate a rib and it hurts to breathe for days.

It’s not a disorder with a cure, it’s one that I have to manage as I go. I’ve adjusted my physical expectations for myself. I know from my last surgery that I’m going to need a hip replacement relatively young, which is a bit daunting. I worry about the more serious complications showing up with age.

Mostly I worry that doctors won’t listen, because that has been the biggest barrier to care every step of the way.

On this International Day of the Zebra, this has been your Daily Moment of Science, asking you to be compassionate to pain you don’t understand.

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