Woman shares her experience with rare genetic illness - WFXG FOX 54 - News Now

Woman shares her experience with rare genetic illness


TARRYTOWN, GA (WTOC) - Amy Coleman lives everyday with an illness that many people don't even know exists. It's called Ehlers-Danlos Syndrome, or EDS. It started when she was 19 with a shoulder injury.

"It just ended up in one surgery after another and it didn't get better. I had eight surgeries in all and ended up getting it fused," she explained.

From there, she began having issues with her stomach. The doctors realized she was processing only part of the food she ate, the rest remained and caused infections. Doctors in Atlanta removed 90 percent of her stomach. After that, heart trouble developed. She's had two surgeries.

She was no longer able to hold a job and blackouts forced her to move back in with family who could watch her. During this time, doctors incorrectly diagnosed her with Crohn's Disease and other illnesses. Finally, a friend who's battling her own medical issues sent her a link to a video.

"She said 'Amy, I know this isn't what I have. But it sounds like what you have.' I watched it and knew immediately," Coleman recalled. Genetic tests at Vanderbilt University confirmed her suspicious.

EDS is a genetic disorder that attacks the body's collagen - the glue that holds muscles, bones, even organs, together. EDS leads to freguent bone breaks or dislocation, bruising and soreness, even a shut down of vital organs. So far, scientists have found no cure.

"Ehlers Danlos is one of the most painful diseases there is because it affects every muscle, every bone, every tissue, everything," Amy said.

It is so rare that only one in 15,000 people are diagnosed. Specialists told Amy that many people who suffer from EDS are never diagnosed and die without knowing.

She has become an advocate. She networks with and supports other patients in the state. In addition, she tries to spread the word to anyone who may be suffereing similar illnesses.

"Sometimes I wonder what my purpose in life is, but I feel its to help others and that's what I'm trying to do," she said.

To read more about EDS, visit http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706



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