Tips for Getting a Proper Diagnosis of an Autoimmune Disease

Posted by Becky, Volunteer Mentor @becsbuddy, Jan 4 9:09pm

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?

I had a diagnosis but it was rejected by 8 rheumatologists one of which said you couldn't possibly have Relapsing Polychondritis it was too rare which we know wasn't true…. my primary disagreed and at one point said time for Mayo and once I got confirmation of dx my life was better. I was able to find a rheumatologist that I could work with through a friend.. we went though all the treatments in the doctor bag but I adverse reactions to the them all…finally another friend suggested I try LDN and am now in remission going on right years

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@goodfriends I’m so glad you’ve finally gotten some answers and the right drug. It must be a relief to at least know what’s going on. The LDN stands for low dose ……? I know there was a discussion about it earlier. I’ll need to look it up 🙂

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my myasthenia gravis diagnosis too 2 years to figure out, but then it took me 2 years to find the Mayo Clinic! Mayo figured it out right away, so many tests required to rule out everything else. Maybe that's part of autoimmune diseases too, so many symptoms and conditions to 'rule out' to find the correct diagnosis

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@becsbuddy

@goodfriends I’m so glad you’ve finally gotten some answers and the right drug. It must be a relief to at least know what’s going on. The LDN stands for low dose ……? I know there was a discussion about it earlier. I’ll need to look it up 🙂

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@becsbuddy – There are several discussions on low dose naltrexone. Hope this helps 😊

– Success with low dose naltrexone for Autoimmune disorders: https://connect.mayoclinic.org/discussion/anyone-familiar-with-low-dose-naltrexone/
– Low-Dose Naltrexone for Chronic Pain: https://connect.mayoclinic.org/discussion/low-dose-naltrexone-for-chronic-pain/
– Anyone with experience using Low Dose Naltrexone?: https://connect.mayoclinic.org/discussion/anyone-with-experience-using-low-dose-naltrexone/

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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 Welcome to Mayo Clinic Connect, a place to give and get support. You were healthy until 2 1/2 years ago and now you have multiple health issues and treatments aren't working.

It sounds like you have been diagnosed with a lot of things but the diagnoses look more like symptom diagnosis? There isn't a known root cause. Did I get that right? I do not have medical training but may I ask if you have sought a second opinion, have any endocrine tests performed, any rule outs, etc.?

If you could give us additional information regarding the test performed and those results that would be great. That way we can try to connect you with members that may be able to help and support you.

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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, I would like to add my welcome to Connect along with @erikas and other members. I know it can be difficult to figure out what's going on when there are so many symptoms. Some of your symptoms seem to be similar with those related to underactive thyroid – "tiredness, being sensitive to cold, weight gain, constipation, depression, slow movements and thoughts, muscle aches and weakness, muscle cramps…" – Underactive thyroid (hypothyroidism) – Symptoms – NHS: https://www.nhs.uk/conditions/underactive-thyroid-hypothyroidism/symptoms/

There are some discussions on Connect where you can read what other members have shared:
– Hypo and Hyper thyroid hell!!: https://connect.mayoclinic.org/discussion/hypo-and-hyper-thyroid-hell/
– Hypothyroidism Diagnosis: https://connect.mayoclinic.org/discussion/hypothyroidism-diagnosis/
– Thyroid disease's impact on other conditions: https://connect.mayoclinic.org/discussion/subclinical-hypothyroidism/

Have you ever had your thyroid checked?

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I have not found anything that works to “speed things up” unfortunately.

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@runwthme

I have not found anything that works to “speed things up” unfortunately.

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@runwthme You're right, there are situations where it seems to take forever to narrow down a diagnosis. I have found that the right tests need to be done, the results interpreted correctly, the successive diagnostic procedures done, to get to the correct ending. Frustrating, especially when we are the patient, enduring daily battles with our body and the conditions raising their heads! Back in 1988 it was a forever-battle, as they narrowed down my symptoms over the course of 8 months, finally diagnosing me with Systemic Lupus. While it was a relief to have a name for my symptoms, and I was appreciative to the doctors being careful, it made my daily struggles a challenge.

All I can say, is to have medical professionals that you have faith in, and keep advocating for yourself. Please let me know how you are doing today?
Ginger

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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

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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