Tips for Getting a Proper Diagnosis of an Autoimmune Disease

Posted by Becky, Volunteer Mentor @becsbuddy, Jan 4, 2021

Getting a diagnosis can be a real challenge indeed! It may be one of the most difficult challenges in your health journey. I received some information from the American Autoimmune Related Diseases Association that gave some good information that will certainly be helpful. I thought that it was a long time before I had a diagnosis, but, on average, autoimmune patients see at least four different doctors over a 3 year period before they finally get a diagnosis.
Some of the tips AARDA suggests are:
1. Ask the hospital if there are doctors on staff who treat autoimmune patients
2. Ask for a thorough clinical examination. Ask for a copy of laboratory results
3. Get a second or third opinion, if necessary. Symptoms can be vague and not visibly apparent, so doctors don’t always connect them to autoimmune diseases.
4.Symptoms often seem unrelated. It is important to make a list of every major symptom you’ve experienced. List and date the the symptoms that are of major concern to you. Also keep a daily journal of symptoms. Take this list to appointments.
5.. Partner with your physicians to manage your disease. One doctor should become the main provider to manage medications

Have any of you experienced a long journey before final diagnosis? What worked for you to try to speed things up?

Interested in more discussions like this? Go to the Autoimmune Diseases Support Group.

@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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@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

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@tlgold

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

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@tlgold Hello and welcome. You’ve described a real myriad of symptoms that you’ve been suffering with for 2 1/2 years and no one seems able to help you. @johnbishop listed some great information on thyroid disease for you to read. (And you mention that you believe your immune system is attacking your body. It sounds so familiar to me. I had multiple symptoms that I couldn’t make any sense of and neither could the doctors. When I was at my worst, an MRI was done that showed lesions on my brain. Doctors here still didn’t know what it was. We finally found an autoimmune neurologist at the university medical center. Who would have ever believed it was an autoimmune disease! I’m actually sitting at the infusion center getting treatment now.
Many autoimmune diseases are treated by rheumatologists. Call a large medical center or university medical center and ask for an endocrinologist (for the thyroid) and a rheumatologist (for possible autoimmune problems).
Will you make those calls and then let us know what you learn?

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@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.

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@oldkarl

@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.

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Hello Karl,
From your post, you sound full of energy.I’ll take some if you have extra to spare. I also read your posts.
I believe you know more about your conditions then your doctors do.
Do you believe with all your activities in your churches, and studying and writing it takes your ind off your
Physical conditions?
What are the names of the books you wrote?

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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!

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@terri672

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!

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@terri672 That’s a long journey. I’m so glad you were persistent! Doctors really need some extra special education on these diseases. Many rheumatologists, luckily, are getting this education, but no one seems to know they are the new specialists. Maybe your focus now could be on helping other people through the maze to diagnosis!

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

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@rarelybees2889

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

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@rarelybees2889 I don’t think you were asking me about going to Mayo, but.. . Have you gone to a university medical center to try and find out about the spinal pain? It might be good to try. Will you do that?

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I am a VA patiemt. I have received better treatment the 3-4 times I visited Mayo

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Hi, Becky and Ginger and everyone. It seems to me that one of the items which seems now to be critical in the lineup of diagnosis factors is a strong Genetic search. Now, I think we all know that the presence of a particular gene does not mean one is ailing with that disorder/disease. However, if one has a gene for any sort of disease, and has a few of the symptoms, it seems that additional testing is called for. I have genes for both gelsolin plain and gelsolin TTR, as well as FKTN. The FKTN was diagnosed with several tests, and the Gelsolin from many tests, not the least of which is the FKTN. Anyway, the gene is important. Without it, many diseases would never even be suspected enough to test. Many genes never become active, but some do, from being impacted by such things as virus, radon, X-ray, round-up, etc. Or just by being passed from one person to another by conception, whatever.

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