Tips for Getting a Proper Diagnosis of an Autoimmune Disease

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.

I have had several different ailments for 2 1/2 years, before that perfectly healthy. Originally flu lasting over a month, then sores in mouth and gums and sore throat, then inflammation in chest and upper arms, then arthritis almost overnight, all joints and muscles, then digestive problems eventually diagnosed as IBS as unable to establish anything else, saw psychiatrist who believed physical, not stress-related, then restless leg syndrome, sudden weight gain for no apparent reason, extreme tiredness, shingles three times.. Trying to continue exercising and walking. Eat healthy. Doctors say all different issues needing to be treated individually but treatments not working. I believe my immune system for some reason is attacking different parts of my body but apparently no tests for this and unable to find someone to help me. I am in Kingston,Ontario,Canada and getting desperate. Advice would really help. Thanks

@gingerw ... Thanks for reading my stuff You ask about keeping my mind, I do several things. First, I try to work out my own medical stuff. i am working now on my genome, getting help from Sequencing.com, Ambry, AncestryDNA, and several others. Also, I write my history most days. And I keep up with several church groups, United Methodist, CME, AME, Presbyterian, RC, etc. I also study quantum physics, astronomical physics and astronomy, And I write on several of these lines. And I have four children, 10 grandchildren, 17 great-grandchildren (Two counting two Marines). And I have computer friends on all the continents and many islands, including Fiji, Tonga, New Zealand, Hawaii, the UK and most African, Asian, and South American nations. I used to travel a lot, but had to give that up. I have been to all the 48 states, plus 8 Canadian provinces and six Mexican states. I have written some books, some now on Amazon and available anywhere. That is about it, I guess. I would like to walk or run, but my legs gave out from my FKTN and Gelsolin.

36 year journey to diagnosis for Ankylosing Spondylitis. Classic start at age 26 with pain and catches in my sacroiliac joint. Diagnosed with fibromyalgia in my 30s... Saw many specialists with many x-rays, MRIs, etc.. My symptoms were classic AS. I kept telling them I had every symptom os AS, but no one listened. No one knows your body like you do. My ANA was weak positive. I have osteoarthritis, my spine was fusing and ribs locking up.... In retrospect, I think I didn't complain loudly enough. Just keep telling them.... maybe someone will finally listen!

Did you go to Mayo Clinic for that diagnosis? I have two established autoimmune diseases but lots of spine pain not getting better