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Seeking Help for Unknown Medical Issue

Autoimmune Diseases | Last Active: Jul 23, 2022 | Replies (41)

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@oldkarl

@ajidzior Amy, a couple things. Looks as if you are keeping good records and diaries, so keep it up. Second, sign in to OMIM.org (Online Mendelian.....) Enter by your worst issues, and track their reports. This will not pin down the cause(s), but should give you some ideas. Then do the same with HPO.org, (Human Phenotype.....) Then go to one of the better genetics labs, such as Sequencing.com, Nebula Genetics, GeneDX, etc. and get their report, either of an assay (1% of the whole genome) or a whole genome. Sequencing.com or Ambry Genetics may be the least expensive at the moment. Then, if you can, ask your family for any odd diseases or symptoms such as diabetes, Crohn, Myeloma (most likely), etc. Get a genetics counselor to help you sort it out. There are many Myeloma types which present themselves with the symptoms and signs you name, such as fatigue, tooth pain, eye pain, cardiomyopathy, slow-developing cancers of internal organs, etc. Finally, don't rush too much. And if your doctor is not at least as curious as you about your situation, change doctors. oldkarl

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Replies to "@ajidzior Amy, a couple things. Looks as if you are keeping good records and diaries, so..."

I see you said she most likely has myeloma, why that? I was diagnosed with smoldering MGUS in 2005 in a routine lab, and see the cancer Dr every yr for labs, but so far numbers are fine. Other places I lived I saw a cancer Dr twice yearly. But I have so many other problema, like lupus that's not been active around 2006. Yrly see rheumatologist.
Also sjogrens, lip biopsy it's my primary disease not the ms. Because sjogrens can rupture the organs. I have had so many tests, unbelievable. Not ever been depressed.