Struggling to Get a Diagnosis for hEDS as an Adult

I saw a geneticist for confirmation of my EDS. Geneticists also can confirm you have hEDS. I know one in Cambridge MA but I don’t know where you live. If it’s been more than a few years ago then it’s particularly worth seeing one because they now have 13 categories of EDS. So things have changed.

I understand how hard it can be! Depending on how long ago it was, the diagnostic criteria may have changed for hEDS since you got diagnosed. I would check out the EDS society website to make sure you still meet the criteria (it was updated as of 2017). Regardless, i would push for seeing a geneticist. I knew based on the hEDS clinical criteria sheet that I met the requirements, but I couldn't get anyone (including 3 rheumatologists) to listen to me. Hopefully, if you know you meet the criteria, you could even bring it to a PCP or another doctor to get the referral as opposed to going through rheumatology.

Genetic testing is required for determining types of eds, but your rheumatologist should be willing to at least diagnose hypermobility spectrum disorder, which should cover most of the same accommodations. That said, you may need to see a geneticist to get a formal eds diagnosis. That's what I needed to do. If you have other comorbidities like POTS or other autonomic disorders, you can try to find the specific department that deals with that organ system to help. A friend with pots is regulated by a cardiologist, and mine is by a neurologist. Sorry you're having trouble finding someone to help you.