The doctor was kind with gentle eyes, an easy smile on his tan face and a tiny diamond sparkling in his right ear. His resident carefully drew by hand my family tree through three generations on both sides. He ran me through the Beighton test and appeared amazed when my thumbs touched my wrists, my elbows hyperextended and my knees bent backward like a horse.
The doctor was young, and he listened ― actually listened. A rarity when you’re a femme who’s presenting with chronic pain. He scored me an eight out of a possible nine on the test, and I finally learned this hadn’t been all in my head.
I was 26 years old and had just been diagnosed with a rare disease called hypermobile Ehlers-Danlos syndrome (hEDS).
In the United States, a rare disease is a condition that affects fewer than 200,000 people, a definition that Congress coined when it passed the Orphan Drug Act of 1983 to establish which conditions would qualify for incentive programs. In our profit-driven medical industrial complex, drug companies refused to “adopt” rare diseases or develop treatments for them due to lack of financial incentive, which the Act aimed to fix.
It’d be nice if receiving a rare disease diagnosis (and subsequently treating it) was as simple and exciting as an episode of “House” or “Grey’s Anatomy,” but the reality is far from that fiction. This is especially true when you’re dealing with a disease that manifests itself by wreaking pain on the human body, something that is nearly impossible to test or measure. Plus, approximately 70 percent of those impacted by chronic pain are women, and our flawed medical system is ripe with inherent bias and sexism run rampant.
EDS and many other rare diseases are often invisible, which makes it difficult to get the attention of the people who have the power to help us.
The number of Americans living with a rare disease is estimated between 25 and 30 million. The combined prevalence of all types of Ehlers-Danlos syndrome appears to be at least 1 in 5,000 individuals worldwide. For this reason (and because I’ve met so many people affected by this disease), I frequently joke that EDS is one of the least rare rare diseases in existence. We have a vibrant online community, but most medical professionals are completely unaware of what EDS is and how it affects the body.
For the average medical patient, a diagnosis is the first step in the final stretch of their marathon. A diagnosis means the assignment of a fully functional care team spread across multiple specialties, with everyone focused on a particular treatment plan (and potentially a solution). For many rare disease patients, on the other hand, a diagnosis is a confirmation and a validation but often has no established treatment plan, fix or cure.
Why? Because the hunt for a cure requires research, and rare disease research is often stymied by the need to obtain funding. Rare diseases end up caught in an ouroboros. Major federal funding agencies give preference to compelling research that’s most likely to have a direct impact on patients, and research focused on hypermobile EDS, in particular, remains largely exploratory. Researchers are still trying to pin down the genetic link that causes the disease, and it can’t be fixed if we don’t know why it happens.
Exploratory research projects are quite simply less interesting to funding agencies than direct-impact research (like a cure for cancer), and so the vicious cycle begins: Without funding to develop the research, there’s no research being created to attract major funding. Some rare diseases have functional nonprofit organizations dedicated to patient support, research and advocacy, but not all, and even these groups are underfunded.
This means for EDS and many other rare disease patients, a diagnosis is just another tall hurdle on the racetrack. After a patient is diagnosed, it’s often on them to find doctors who know what the hell EDS or their own rare disease actually is. Most doctors are only passingly familiar with EDS, and those who have an inkling are often relying upon information that’s decades old.
That’s assuming a patient receives a diagnosis to begin with. According to the National Organization of Rare Disorders, it takes about 7.2 years on average to diagnose a patient with a rare disease. For EDS patients, the timeline can be more than double that; surveys have found we wait between 14 and 19 years to receive a diagnosis.
I waited seven years. Seven years to find out why my vertebrae were unexpectedly shifting out of place, stranding me in bed for days. Seven years of doctors and nurses telling me I was overreacting and placating me with ibuprofen. Seven years of chiropractors straightening my joints only to feel them immediately slip back out of place beneath their palms.
It’s unfortunately unsurprising for females and femme-presenting humans to experience this kind of prolonged diagnostic delay. “There is no shortage of ways in which women are discriminated against in medicine,” journalist Fay Schopen wrote for The Guardian in late 2017.
And she’s right. A study by EURORDIS, a European nonprofit alliance that focuses on rare diseases, found that a quarter of EDS patients surveyed waited 28 years for a diagnosis ― and the delay was longer for females than for males. This is despite the fact the ratio of affected women to men is about 8:1.
It’d be nice if receiving a rare disease diagnosis (and subsequently treating it) was as simple and exciting as an episode of 'House' or 'Grey’s Anatomy.'
Study after study has shown that women’s pain is generally taken less seriously. Women are more likely to be given sedatives for their pain while men receive prescription pain medication. They’re also more likely to wait longer for pain relief in the emergency room; one study on acute abdominal pain found women waiting 65 minutes for analgesics compared to 49 minutes for men. (And an extra 16 minutes is an eternity; I speak from personal experience.)
So imagine, then, how difficult it is to get a diagnosis and adequate treatment when you’re faced with the one-two punch of dealing with a rare disease while female or femme.
EDS and many other rare diseases are often invisible, which makes it difficult to get the attention of the people who have the power to help us. My own symptoms make up a laundry list of complaints that stretch longer than the CVS receipt that I receive when picking up my prescriptions. If I started listing them, I might never stop talking. Instead of coffee, my morning ritual is the slow and steady popping of bones back into place.
Living in my body ― my meatcage ― feels like being trapped in an uncontrolled demolition. But there is power in being able to talk about it. Awareness is integral for increased understanding about rare diseases like mine and for empowering patients with information and encouraging them to speak up. Maybe that understanding will lead to the possibility that, one day, we will find a cure for them.
But awareness alone is not enough. There is a deeper, darker economic sickness in our medical industrial complex, one that disincentivizes researchers from studying and uncovering the causes of rare diseases like EDS and prevents patients from accessing the medical care they deserve.
Until we’ve cured that sickness, people with rare diseases will continue to unfairly suffer.
Ace Ratcliff lives with hypermobile Ehlers-Danlos syndrome, dysautonomia and mast cell activation syndrome, which all make for a particularly rebellious meatcage. Her advocacy is centered around intersectional feminism with a specific focus on disability rights.