How having the right diagnosis transforms my relationship with my symptoms
Like many of my family members, I’ve been prone to random injuries and musculoskeletal pain for as long as I can remember. Most of my childhood aches and pains subsided within a few days. Because of this and how relatively normal these pains were within my family, we usually didn’t see a doctor to evaluate my condition.
The heel pain that persisted for much of fourth grade was a different story. When the pain didn’t go away within a couple of weeks, my mom took me to the pediatrician. She referred me to a podiatrist, who couldn’t identify the cause of the pain. I spent much of that year self-limiting my activity because of the pain. Eventually, it subsided and I could play with my friends on the playground again.
Yesterday, over a decade and numerous chronic pain-related diagnoses later, I started having heel pain again. It’s not the only pain I’m currently experiencing — my upper back and hips are also bothering me. This time, I have more context to understand the pain and more possible ways to deal with it.
My first chronic illnesses were psychiatric, diagnosed intermittently throughout my teenage years. In 2015, I received my first chronic pain-related diagnosis — fibromyalgia. This allowed me to start a medication that helps with some symptoms, but others persisted.
A couple of years later, I was given a couple more diagnoses — idiopathic hypersomnia, acid reflux, hiatal hernia, dysautonomia, myofascial pain syndrome, and cubital tunnel syndrome. I also had two ganglion cysts removed, in 2015 and 2016, and had a tear in my wrist cartilage treated during the 2015 surgery. After I had an allergic reaction to an apple, I was tested for allergies but all the tests came up negative.
It’s not normal for a 21 year-old to have this many separate diagnoses without an underlying cause. Each doctor I saw was looking for horses, not zebras, but at a certain point a single “zebra” diagnosis can explain all the “horse” diagnoses. Even though all my specialists were within the same system, some of them hardly looked at my medical records and relied on me, ADHD and all, to recount my history at each intake.
Without an overarching diagnosis, each specialist struggled to adequately manage my symptoms — let alone identify their cause.
The first person who suggested I may have hypermobile Ehlers-Danlos syndrome (hEDS) was one of my sociology classmates with symptoms similar to my own. We often volunteered personal experiences we’d had with health insurance during the healthcare unit — it was a “contemporary social problems” course, and our aging professor encouraged all his students to share examples from our own lives to make the concepts more personal.
I did a lot of research on hEDS in the first half of 2018, when I took sociology. Eventually, I scheduled an appointment with my primary care doctor — a resident — and showed him some information about hEDS for clinicians. Because hEDS is a rare syndrome, he consulted with his attending physician for next steps. I left the appointment with a referral to rheumatology, one of the few specialties I hadn’t yet consulted.
The rheumatologist diagnosed hEDS at my first visit, in early November. He did a quick joint hypermobility test, looked over my medical records, asked about my family history and determined I didn’t need genetic testing. The fact that my mom and sister have similar symptoms indicates it probably is genetic, but genes linked to hEDS are still being identified, so genetic testing isn’t always indicated.
Because medical schools teach doctors to look for horses, not zebras, many people with hEDS have stories like mine.
Many of my other diagnoses and symptoms are common in hEDS patients — dysautonomia, chronic fatigue, sleep disorders, anxiety, neuropathy, acid reflux, irritable bowel, abnormal scarring, easy bruising, depression, TMJ problems. Even my mysterious allergic reaction had an explanation — mast cell activation syndrome.
Because medical schools teach doctors to look for horses, not zebras, many people with hEDS have stories like mine. The syndrome’s awareness ribbon is zebra-striped for this reason — several other rare disorders use the zebra-striped ribbon in their awareness efforts as well. We’re supposedly the exception to the rule, but I have to wonder if that’s accurate.
Maybe doctors are identifying “horse” and “zebra” — common and rare— diagnoses with faulty data, like the AI systems that replicate human biases. After all, hEDS can affect many systems, each handled by a different specialty. Yet without the overarching diagnosis, each specialist struggles to adequately manage the symptoms — let alone identify a cause. Could they even know how prevalent hEDS in this hyperspecialized healthcare system?
Soon after I saw the rheumatologist, I had a follow-up appointment with my gastroenterologist. I told him about the hEDS diagnosis, and his understanding of my symptoms completely shifted. He ordered two tests, for gastroparesis and SIBO, on the spot. The test for SIBO came up positive. After a round of antibiotics and some dietary changes, my GI tract is healthier than it’s been in years.
Earlier this year, when my primary care doctor wanted to take me off my muscle relaxer, I contacted my pain management doctor and asked for a second opinion. I explained that the muscle relaxer helps prevent my muscles from overcompensating for my unstable joints. Without it, I have terrible muscle cramps and back pain. At my next primary care appointment, my doctor confirmed that I could stay on the medication.
Having an explanation for my symptoms helps me advocate for myself with doctors and care for my symptoms at home. Between December 2016 and October 2018, I had just over five medical appointments per month on average — not including care outside my primary healthcare system. Since December 2018, I’ve averaged just under two and a half appointments per month. I haven’t been to urgent care or the emergency department at all this year, and I had no appointments at all in May.
Now that I know what’s causing my symptoms, I can find other people with experiences like mine. I can Google my sometimes bizarre symptoms with “hEDS” at the end and easily locate relevant resources, either through formal organizations or patient forums. Even a mere confirmation that my symptoms are common among hEDS patients can provide reassurance.