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.
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.