Type “Ehlers-Danlos syndromes” into a search engine, and multiple suggestions pop up. Is Ehlers-Danlos an autoimmune disease? Is EDS hereditary? Rare?
Then, the algorithm might suggest: Is Ehlers-Danlos syndrome a disease?
“Is EDS real?”
The latter is a question that really annoyed Cortney Gensemer, a postdoctoral researcher who studies and has EDS. How could people — even doctors — not believe in a group of illnesses that have inflicted tangible symptoms on her and several of her relatives? Patients might look healthy, their tests might show no signs of disease, but they endure repeated joint dislocations, headaches and pain, as well as gastrointestinal issues, fatigue, and stretchy and fragile skin. All of these symptoms are present in some forms of EDS. Gensemer has the most common of the 14 subtypes, called hypermobile EDS.
But since, unlike the other 13 types, hEDS has no known gene, it stays in medicine’s gray area.
No matter. Gensemer used other people’s suspicions as propellant. She hit the research bench, her gaze set firmly on this group of connective tissue disorders. “Let’s publish in top journals and send them a copy and sign it — that’s how I feel now,” she said.
The medical gaslighting she endured as a patient? Now, it’s material for her work in the lab of Russell Norris at the Department of Regenerative Medicine and Cell Biology at the Medical University of South Carolina. For four years, Gensemer has helped pry open DNA from people with her same illness to figure out what gene variants might be responsible.
She is one of a generation of young patient-researchers, mostly women, who have hEDS and are studying the disease — its genetic sources, the way connective tissues break down, how modern diagnostic tools are failing patients, and which might be more effective, and more. They are redefining what the study of chronic disease can look like by smudging the line between patient and researcher, channeling their experiences into determined, careful science. They are showing that patient-led inquiries could be indispensable in the effort to crack complex, long-misunderstood illnesses, like hEDS.
