My sister was first diagnosed a few years ago after years of struggling with various symptoms. After she informed us and explained it to us I realized that I most likely also had this condition. After years of living with symptoms I just always thought it was normal since my siblings and I all have similar and some identical symptoms. Then in 2024 I began experiencing enough troubling symptoms to ask my doctor about it. He had heard of it and mention
ed it was possible but had no idea how to proceed. I googled and ended up on the RQMO website and found Gail Ouellette who sent me a bunch of information as well as the name of a geneticist who was taking patients in Montreal (about 3.5 h away) so I asked my doctor to refer me. I finally was assessed in 2025 and genetic testing through Invitae and McGill labs were ordered. I scored 7/9 on the Beighton score and since I had some symptoms and signs of the vascular and classic type, she requested the testing to make sure. A few months later I unfortunately suffered a spontaneous carotid dissection leading me to really expect the genetic testing to come back and confirm the vascular type. I was lucky and didn’t have a stroke but was left with some debilitating symptoms which were later confirmed to be POTS. The testing did come back later in 2025 and was negative other than a VUS in the DCHS1 gene. So a diagnosis of hEDS was given but with a mention of vascular presentation. The most difficult thing has been to be taken seriously by medical professionals when mentioning hEDS. Once I tell them about the dissection it is a different story! It’s much faster to get appointments. There is no clear protocol or instructions for my family doctor on how to properly coordinate or follow my health so I’ve had to do this on my own and find the specialists that I believe are best to help me. This past year I’ve had to take a leave of absence from my job which has been tough. I have now also being diagnosed with obstructive sleep apnea, histamine intolerance (they haven’t done formal tests but by symptoms they said it’s probably MCAS) as well as now ME/CFS. I’m not sure how I’ll get out of this rut and find my quality of life again. I’m only 44 and was a very active person. I was always playing sports and doing things. Now I spend my days in a push crash cycle trying to find a way to balance everything and hoping to get back to normal. I sincerely hope EDS could be better taught in medical school now as well as educate our health officials in government.