Ehlers-Danlos syndrome: A mystery solved

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I have always been accident-prone. It wasn't unusual for me to suddenly lose my balance while walking down an even-paved path as though someone had slid a banana peel in front of me. I'd slam down hard on the ground, skinning knees and elbows. I once fell off a boardwalk on my bike into a swamp, my body casting an impressive outline in the reeds — like a cartoon character who has run through a wall. My body was often a landscape of bruises and scabs, while most of my dishes were doomed to break at some point, causing consternation among my roommates. The dishes were just some of the casualties of my clumsiness, for which I was sometimes scorned and scolded by teachers, parents, and boyfriends.

But I never connected this clumsiness to how my joints and tendons seemed as fragile as the glassware I sometimes shattered: ankles that twisted and sprained at the slightest misstep; wrists wrecked and inflamed for years from the first few attempts at downward dog during an introductory yoga class; a jaw that partially dislocated from the simple act of chewing on a tortilla chip. These incidences became less rare and more routine as time wore on, as well as more severe.

About six years ago, after helping a then-boyfriend move a couch up the three stories to our apartment, I could not get out of bed for a solid week. The discs in my back simply gave out, like a box of jelly donuts someone sat on. I remember my ex telling me even his mother could have accomplished such a simple task without injury, but I could not. This kind of disapproval about my body and its idiosyncrasies now lends itself to automatic distancing on my part. If I meet someone who is critical about my physical shortcomings, I expect to not speak with them again.

Clues to the reason for my clumsiness

In more recent years, my body was besieged by an incessant, widespread, bone-deep aching pain. In particular, my sacrum and hips felt as if they had been infused with bits of broken glass that ground against me as I walked and rubbed my soft tissue raw with too much sitting. Imaging results revealed a large labral tear in my left hip, and a spine riddled with busted disks and cysts swollen with spinal fluid. Physical therapists always asked what accident I'd had or which aggressive sports I partook in to sustain so many injuries, but I could only shrug and say there was no reason I could ascertain, that life was simply taking its toll on me — albeit a heavier one that it seemed to be taking on most others, and at an earlier age than many experience.

The mystery solved

This is why it was enormous validation when I finally visited a geneticist earlier this year, who revealed after a thorough two-hour evaluation that I had Type III of a rare connective tissue disorder known as Ehlers-Danlos syndrome, or EDS. EDS is characterized by hypermobile joints and a deficiency in collagen (connective tissue) that results in pain and repeated injury. Not only does this diagnosis account for my clumsiness and much of the bodily damage I have accrued over the years, it also helps explain some of my migraines and the frequent rashes on my skin, the trouble I have regulating my body temperature, and my bowel and bladder problems.

While I was relieved at the diagnosis, I was also resentful. I have been pestering doctors for the past few years about my chronic and often disabling pain. My geneticist told me that it often takes an average of 10 to 20 years to receive a diagnosis of EDS, with many people not receiving an accurate diagnosis until well into their 40s. As with many medical conditions, EDS disproportionately impacts women. This may account for the delay in getting a proper diagnosis and treatment, as studies have repeatedly shown the medical community is not as educated on — and therefore much more likely to misdiagnose and disregard — health issues that impact women. My geneticist told me many of the women she had diagnosed had at some point attempted suicide to achieve an end to their suffering, both the physical suffering from the disorder and the emotional suffering of having their pain ignored and even questioned for years or decades.

Now that I do finally have a proper diagnosis, I have taken the initiative needed to better manage the disorder and its symptoms, including avoiding certain activities and implementing aids to stabilize and protect my joints.

As EDS is not a widely understood or known disease, my greatest hope is that my experience can offer a guide to other patients who suspect that there is more than meets the eye when it comes to their chronic pain. I also want to spread awareness among the medical community, not only about EDS, but also that just because a diagnosis is not easily apparent, does not mean there isn't one. Doctors owe their patients their curiosity and support, because the consequences for those patients left behind can be severe.