EDS and co are notorious for that; the symbol for various EDS organizations is a zebra, because doctors get patients with joint problems and think "arthritis, but they're a bit young, weird, oh well off to the rheumatologist" and before you know it you've seen various professionals and no diagnosis.

There's also HSD, which has a lot of overlap and may yet be a subtype of EDS, but the genetic marker hasn't been found yet. And when you get a patient with the full associated combo of symptoms [0], each of which only reveal themselves or become problematic over a long span of time (e.g. eye problems at young age, period problems / endometriosis as teenager/adult, neurodiverse conditions only diagnosed in 30's, severe joint problems and fatigue in late 30's, etc), few people will actually link them together as possibly having the same single cause.

But thanks to the internet, people with symptom X will find other people with symptom X and before you know it you have a group of people that are like "Hey, we all have symptom X, Y, Z, A, B and C, what gives?".

[0] https://en.wikipedia.org/wiki/Hypermobility_spectrum_disorde...

What treatment did your wife receive? Did she improve?

Did doctors confirm Ehlers Danlos with genome sequencing?

Anecdotally: an endocrinologist diagnosed me a macroprolactinoma just by seeing me entering for a consult about another problem.

"You're here for a prolactinoma?" "Nope" "I'd like to get this blood work done tho"

One week later the blood work confirmed her hunch.

Experience can get some crazy results.

It’s interesting the (consistent) list of conditions that one struggles to get an AMA doctor diagnosis for.

What were her symptoms?