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DrThomasMD
DrThomasMD, Doctor (MD)
Category: Health
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Experience:  Practice Director
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HELP! I am desperate. I think I have an undiagnosed rare

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HELP! I am desperate. I think I have an undiagnosed rare genetic disorder. A group of visits to the doctor and familial history add up to 2 missing amino acids, high glycemic index, a fatty liver (since I was twenty even though I had an extremely healthy lifestyle), I am Finnish and most of my relatives on both sides of my father's line died early and of major illnesses--pancreas, heart, liver etc. But there are a group of diseases called Finnish Heritage Diseases and I think I have one. Over the years there have been many other symptoms that would indicate either "autoimmune" or a "metabolic disorder". For over 3 years I have had a mucous ring around my throat. "Sensitive" to most foods and chemicals. Dietician put me on a diet carrying more protein about two months ago, and after that boom--extremely sick. Right now I feel "shockey" like I did when I had toxemia during my pregnancy. My doctor says "anxiety" and won't hear any more of it. My acupressure specialist says Liver, spleen, pancreas, stomach, cardiac, lymphatic, and pituitary are all affected gives foot health of 3/12--most recent visit to ER chest pain and irregular heartbeat. And --long story short I think there has been a major misdiagnosis and I think that I may have lysinuric protein intolerance. How do I get a diagnosis or the tests that I would need to get this buttoned down? I do have a place to go for genetic testing. As usually I show up with symptoms but the dots haven't been connected, and every place I go just keeps bouncing me around?
Submitted: 6 months ago.
Category: Health
Expert:  DrThomasMD replied 6 months ago.

Hello

This doe not fit any disease really, so far.

Get the genetic testing by all means.

Get the following

ANA panel and sed rate: if these are normal or low there is no autoimmune disease or cancer.

For the heart, get a holter monitor to make sure you don't have a heart rhythm problem.

other tests you need

thyroid function

sex hormone panel

adrenal hormone panel

magnesium

vitamin D

all B vitamin levels.

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Customer: replied 6 months ago.
how do you test for metabolic diseases?
Customer: replied 6 months ago.
autoimmune positive for RA
Customer: replied 6 months ago.
vitamin D and B occassionally low
Customer: replied 6 months ago.
Need to go find lab tests results
Expert:  DrThomasMD replied 6 months ago.

genetic testing, but you would have had a metabolic disorder from birth.

I don't think this is it.

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