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@oldkarl

Hi, Ginger. I have had a wild ride trying to get a diagnosis without slapping the doc across the face for incompetence. At birth, my deliver doc told my parents I would probably not live three years. No one knows why. Next came five years of frequent dX of mumps. Five times, But no chicken pox Zoster. then various other diseases. measles several times, Tonsilitis, Brain concussions, Broken bones. Hip and shoulder injuries, Arthritis in knees, hips, uncontrollable broken ribs, bloody noses. Spine arthritis, then heart problems began. 30 cardiac catheterizations over 30 years now, and 2x CABG. Then I got into the autoimmune stuff. Multiple myeloma, pulmonary stuff, encephalopathy (TSE, etc.), blood, cancers (prostate, thyroid, esophageal, skin, universal organomegaly (spleen, tongue, nasal passages, lungs, liver, adrenals, kidneys, etc. etc. Every place I turned some lazy doc would just say "Oh, everyone has these little problems", even though my siblings all had Multiple Myeloma, cancers, Lupus, Crohn, etc. Then they will diagnose some stupid little thing when they should be diagnosing "Disappearing Cerebrum White Matter." (On that one, I saw the scan for myself, and told the scan reader about it. He agreed, and changed his report.) Finally I read a single paragraph of two sentences in the Oregonian newspaper. Someone had found some money to do research on Gelsolin (also called Finnish Amyloidosis, AGEL and other names I cannot use here.) I asked for diagnostic work. I even made a trip to Mayo, They refused to consider it. Same with every regional clinic, including the NIH Undiagnosed diseases project. Finally Ambrygen did a partial sequencing. They said I had both Gelsolin and Fukutin Limb Girdle Muscular Dystrophy. So I started finding other possibilities. I have now found I have genetic evidence of about 60 genetic disorders, involving many cancers, invasions, failures, etc. About half of them talk about early death, dementia, and major failures. In the meantime, I have lost jobs, been punished, beaten, flunked, all manner of bad things because the )*&^&^% health systems I relied on refused to take me seriously. Yes, I am bitter. Not at God, but at those medicos who were just too lazy to do their jobs right. And the higher I went to the leadership of this medic systems, the lazier people showed themselves. And I ran out of money for the only thing that could have cut this story short: A whole genome sequencing. Now when I find someone who will sequence, I get this B.S.: "This service is for entertainment and general educational purposes only. It should not be used for medical purposes." Is it any wonder that I really do not trust American medical practice? I never trust fully anything I cannot see for myself.

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Replies to "Hi, Ginger. I have had a wild ride trying to get a diagnosis without slapping the..."

@oldkarl You have had quite the journey, haven't you? I have had my share of incompetent doctors and specialists, too. On my quest during the lupus testing, one dr blatantly declared "it's all in your head", and tried to send me into medically-induced diabetes. It's good you have some peace of mind, knowing that there is a genetic factor in some of your issues, isn't it? I have to wonder if it is all too overwhelming for one medical professional to see the difficulty in what you face, and they compensate by turning their back on how they might assist you? I have had to point things out, and really push for my own health, too. Many times an MD does not like that!

What are you doing these days to be your best self possible, if I may ask?
Ginger