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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...

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The last I knew, EDS and HSD are mutually exclusive. HSD is typically diagnosed because you have hypermobile joints, fatigue, brain fog, POTS, and other symptoms, but you lack the very specific genetic markers that hypermobile EDS requires.

The real problem is twofold. One is that EDS had historically been a diagnosis of exclusion, and a lot of the diagnostic tests were difficult. The second is that the disorders overwhelmingly affect women, and women tend to get ignored about chronic pain and fatigue.

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What treatment did your wife receive? Did she improve?

Did doctors confirm Ehlers Danlos with genome sequencing?

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90% of EDS sufferers have the Hypermobile variant, for which there is no genetic test. At least thats what I was told by an EDS specialist a few years ago.
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Yes. However, there are some polygenic risk scores for EDS. While not approved for clinical practice, they can serve as guidance.
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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.

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Did they state what made them have that hunch?
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It’s interesting the (consistent) list of conditions that one struggles to get an AMA doctor diagnosis for.
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It’s because for whatever reason a large number of doctors do not fundamentally believe some of these conditions exist (especially with syndromes with no clearly understood underlying cause).

I could not tell you the number of doctors who have rolled eyes at the mention of ehlers danlos and hypermobility disorders.

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What were her symptoms?
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