Nearly 100 doctors have tried to diagnose this man’s devastating illness — without success

RL_sparky

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Quote from article:
" In Schwartz's case, the leading hypothesis is that his enlarged and overly stretchy venous system might reflect a subtle problem with the collagen in his connective tissue. It is possible that the collagen, a protein that functions as a sort of scaffolding and holds the body together, is not strong enough to support the walls of his veins. He also shows signs of dysautonomia. "

https://www.sfgate.com/news/article/His-ailment-amazes-perplexes-doctors-14457819.php

@JenB
 

JES

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My first thought from glancing over this article, how is it possible that this guy has visited hundreds of experts without anyone diagnosing him with ME/CFS or at least POTS or dysautonomia? None of these diseases are rare. His symptom of increased night-time urination is probably a secondary consequence of dysautonomia. His kidneys would try to do everything they can to hold on to water in the day when he is upright in order to maintain blood volume, which would reduce urinary output. I get it as well to some extent as well as the hyponatremia. The enlarged veins are a typical issue with parasympathetic dominant POTS.

I sometimes wonder where the world is going when doctors in the USA in this day and age are not even able to diagnose, let alone treat this cluster of diseases. Somebody should write to this poor man that he should at least not spend all his savings on DNA testing to find some rare genetic disease that somehow manifests at age 56.
 

Sushi

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My first thought from glancing over this article, how is it possible that this guy has visited hundreds of experts without anyone diagnosing him with ME/CFS or at least POTS or dysautonomia?
A friend of mine went to the NIH undiagnosed disease program and they not only failed to help her with severe dysautonomia but they tried to give her a drug that she had listed that she was allergic to! She asked what they were giving her and stopped them.
 

kangaSue

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Hmm, I wonder if that's a mutant form of EDS.
Visceroptosis and nephroptosis from having lax ligaments and connective tissues could account for the different symptoms between being upright and supine in any case, and can also mess with all functions requiring kidney regulation inputs.