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Autoimmune Fatigue and/or Chronic Fatigue

Autoimmune Diseases | Last Active: Jan 20, 2023 | Replies (166)

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@oldkarl

Hi, @abrown. Start with the symptoms, signs, etc. Take them to http://www.omim.org/entry/.......enter whatever you have. Let OMIM see if they can find anything related to whatever you enter. Then take that number or name or whatever you get to http://www.hpo.jax.org and just follow wherever it goes. And do get the full list of genes, and let sequencing.com do their magic, looking for pathogenic or risk or whatever genes or proteins which may be causing the issues your son his. Let their Genome Explorer sort out whatever conditions you are talking about. True, you might not hit on something important, but you might hit the key. I surely have. You have to let the software narrow it down, then compare that to the clinical symptoms.

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Replies to "Hi, @abrown. Start with the symptoms, signs, etc. Take them to www.omim.org/entry/.......enter whatever you have. Let..."

wow! that is quite a process. How on earth did you figure that one out? Ok, this is very exciting. I will definitely pursue this. thank you so much for your advice. : )

So I have been reading up on these different companies and their services for testing based on your suggestions. I am not totally clear on the first part about entering symptoms & signs and on OMIM...my son's symptoms are part of what is making this all so vague...Fatigue (this can be attributed to many underlying issues, brain fog..same thing...diarrhea (nearly lifelong) ...been tested up and down for all sorts, but nothing comes up. If I enter his symptoms and they are sort of "generic" as I listed above, I get quite a list of suggested issues. Any suggestions on how to approach this when it feels overwhelming? Should we just dive in and have him take a test and eel with it once it comes back with results? I sure appreciate your thoughts and ideas : )