Anyone familiar with Ehler Danlos Syndrome? Have done a little research and it seems like at least some of it fits for me. There are DNA kits you can order yourself or talk to your pcp to direct you to a geneticist. Anyone ever done this either way? A few lifelong quirks seem to fit enough to make me curious, but would also expect the PA at my doctor to politely nod and just move onto the next item on her checklist. So, is it worth getting checked out and if so what is the best approach?

The mild variants are actually very common. Most little cheerleaders or gymnist have it to some degree. The most important thing is to make sure you don't have Marfans syndrome as that is dangerous with aortic root dilatation. I have diagnosed a handful of those kids over the almost 3 decades.

I had my first encounter this year with the vascular variant of Ehlers-Danlos. They had a minor vascular abnormality that went on to a complete rupture in less than 24 hours. A memorable case, but the only one like it that I've personally seen.

I suffer from migraines from the countless times patients' first words in triage are "I have POTS"



From forcing myself to not roll my eyes

I think we had my wife tested for it at the rheumatologist, rather than a geneticist. You might got that direction, but you might also look up the treatments.

I don't believe there's much to be done other than lifestyle modifications and maybe some pain management?

Also, be prepared for having some of the markers, but not all, so you maybe-kind of have some of the symptoms but. It really the full diagnosis.

After my wife got diagnosed with POTS in 2020 (Mayo clinic did the diagnostics, and she can't stand up and still for more than about 60 seconds without the HR skyrocketing before she passes out, so I'll go with it), we ran through the other diagnoses that they often see together, like MCAS, EDS, etc. incredibly frustrating, as there seems to be way too much gray area for my liking. If you're going through issues with it, I wish you the best.