Cortney Gensemer suffers from Ehlers-Danlos syndrome. Now, she may have discovered a gene responsible for it.
Cortney Gensemer, Ph.D., talks with FOX Television Stations about dealing with EDS and how her research discovered a potential breakthrough.When Cortney Gensemer was diagnosed with Ehlers-Danlos syndrome at 19 years old, she had many questions because little was known about the rare disease.
There are 13 subtypes of EDS generally characterized by joint hypermobility, hyper-stretchable skin, and tissue fragility. "I was needing to use crutches and a walker and have surgeries," she explained. "Initially, I thought I was a really tough athlete...working way too hard."Gensemer said she never heard of the disease, but then learned that many of her relatives also suffered from EDS. Gensemer said she struggled with a lot of pain and had to find ways to manage it. She would sometimes have to lay on a heating pad in between college classes, use an icepack or take medication to numb the pain.
Gensemer said the discovery came after she jumped at the opportunity to study her disease four years earlier. Though there isn’t a cure for EDS, Gensemer said knowing the gene could lead to an early diagnosis. She said that is beneficial because people can make lifestyle changes earlier in their lives, such as avoiding sports and other physical activities that come with a great risk of injury.