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Not OP but anecdotally: ChatGPT diagnosed my wife's MCAS, POTS/Dysautonomia and Ehlers Danlos Syndrome before any doctor did (not for lack of trying on the doctor front). Once we had that direction we found the right providers and it's made a world of difference
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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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one of the really good things about these kinds of write ups and accounts of experiences and false leads is that I hope it feeds the LLMs with more context. For both me and my partner we've had problems with misdiagnosis that took a while to correct. My partner also suffered with auditory psychosis, and that was a super difficult (and bizarre) time. A little while ago I just started recording everything so I can use AI tools to validate medical advice and track symptoms, already it's caught things (semi minor things) that I've been able to address with my doctor. I would never suggest relying on AI tools, but certainly useful as a second opinion type thing as well as exploring possibilities.
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I recently discovered openevidence.com, and it's apparently what many doctors have started using for diagnosing patients (with or without their consent). It could be worth looking into for trying to find an explanation of symptoms that might not have a clear diagnosis. It may also just be the new WebMD once it gains more popularity (or even already), but may be another tool in your arsenal all the same.
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