Tips for Getting a Formal Diagnosis

If you can’t get in to a geneticist for a while, a good primary can go a long way. My primary gave me a “working” or “clinical” diagnosis based on labs and imaging and symptoms after the rheumatologist had no knowledge of EDS (my primary was shook) and the PT said my hypermobility was “hilariously obvious” and “ticked every box, some several times”. I can’t get in to a geneticist until August (ironic, considering I’m married to a research geneticist 😂) but my primary was able to put together all the pieces and said the genetic testing is just to see which type. Get yourself a good primary and you won’t regret it. I recommend Healthgrades and get picky and granular. Younger docs are generally better, and family medicine docs tend to have the widest knowledge base in my experience.

My recommendation is to make an appointment with a geneticist.

commenting bc i’m trying to begin the same process, my physician referred me to a rheumatologist but i’m curious what others first steps were