A Long Diagnostic Odyssey to Ehlers-Danlos Syndrome

Mary had always experienced a lot of joint pain as a child. At fourteen, she realized that not everyone lived with chronic pain. As she got older, she had testing done to rule out a number of GI conditions and rheumatologic disorders. Two years ago, without finding an answer through doctors, she started doing research on her own and kept coming across the possibility of Ehlers-Danlos syndrome. Mary discusses the challenges to getting a diagnosis of EDS within our healthcare system, how a diagnosis has impacted her life and the care and referrals she receives from physicians, and how a diagnosis has given her permission to rest and take care of herself. Links and Resources The Ehlers-Danlos Society Director of EDS-friendly specialists Dougherty, Michael J. “Closing the Gap: Inverting the Genetics Curriculum to Ensure an Informed Public.” Am J Hum Genet. 2009 Jul 10; 85(1): 6–12. Have thoughts or a related story you’d like to share? Leave us a short voice message here! We may use your message on a future show. Check out other Patient Stories podcast episodes. Read other Patient Stories on the Grey Genetics Patient Stories Page. Collect and share your family history through the FamGenix app. Do you want to support Patient Stories? You can now make a donation online! Want to support Patient Stories in a non-monetary way? Leave us a review on iTunes, or share your favorite episodes on Social Media. Patient Stories on Twitter: @GreyGeneticsPod Patient Stories on Instagram: @patientstoriespodcast Are you looking for genetic counseling? Patient Stories is sponsored by Grey Genetics, an independent telehealth genetic counseling and consulting company. Book an appointment with a genetic counselor specialized in your area of concern. All genetic counseling appointments take place over secure, HIPAA-compliant video-conferencing or by phone. Not quite ready for genetic counseling but still looking for guidance? Check out our new family history review services here.