Autoimmune? Undiagnosed and don’t know where to go next

Posted by beanie300 @beanie300, Nov 7, 2018

I am posting here in hopes that someone out there has experienced something similar or can at least tell me where to turn next when it comes to figuring out my illness. A friend of mine who has lupus said it sounded like it could be autoimmune but I really don’t know anymore!

The following chunk is going to be a long medical history and I apologize, I just want to give as much information as possible in hopes of getting help.

I was born premature but had amazing algae scores and was sent home that day. My mother tells me I was always sick as a baby with chronic throat infections of some kind or other. She made the doctors remove my tonsils before I was 2 in hopes that it would help but it didn’t seem to. Growing up I remember always being sick. I seemed to get every bug going around but was always especially susceptible to strep throat infections and sinus infections. I was sick so much that by highschool I am pretty sure I only was actually able to attend around 2/3 of the total days in the school year. Maybe even less than that and this wasn’t me staying home with colds, this was constant stomach flu, upset respritory infections, and of course strep throat. I also had constant hives and dermatographia since I was young and still have it to this day! The doctors always wrote it off, saying it was probably a food allergy, but never really looked into it. I also never ran fevers as a kid and instead run at a constant 97.6.

In 2016 my constant bad health seemed to take a turn for the worst. Right after graduating highschool I got so sick I was bedridden for the whole summer. I was throwing up, having joint pain, and sleeping all the time. No fever but I NEVER run fevers. After a month of it my mother took me in to my family doctor. She ran a mono test and Lyme test which both came back negative but she was sure it was mono so she told me to come back in a few weeks. I did but the test was negative again, and then again when I came in another month later. My white counts were high but they couldn’t figure out what was wrong other than that. Finally after 4 months I got better and stopped going back to the doctor, just in time for me to go to my freshmen year of college.

I made it through my first semester, despite the fact I got stomach flu and strep a few times but then part way through my second semester I got sick again. I was throwing up to the point I had to be hospitalized for fluids. All of my lymph nodes were so swollen I didn’t even look like I had a neck and was having a hard time swallowing. This time it turned out I actually did have mono. I had to leave my college and go home to recover. It took a total of about 4 months to get better but I never felt 100% again after that. My doctor told me it could take up to a year to feel fully better so I decided to take time off of college and get a job.

The job lasted about three months. I was so tired in that time that I would get up to go to work, struggle through my shift, go home, and immediately go to sleep. I was only awake about 10 hours a day but I figured it was just because I wasn’t used to working and would adjust. Then I started developing severe joint pain and stiffness, to the point that it was hard to get up off the couch simply because I couldn’t unbend. Both of my parents have rheumatoid arthritis so I assumed it was that and went in to my doctor for testing. I was only 20 and knew I shouldn’t be feeling as old as I suddenly felt. She ran an ANA that came back normal. A week later I passed out in the shower. My parents and I assumed maybe the water had been to hit and left it at that. Another week later I passed out at work. The fainting episodes became a normal part of my life which led to me quitting my job.

I went to see my primary physician again but she was clueless. She ran a complete blood count, metobolic panel, and tested me for Addison’s disease. It all came back fine aside from a slightly elevated white blood count. She then referred me to doctor number 2, an internist.

Doctor number 2 was probably the best I had ever seen. Listened to my story then tested me for dermatographia before I had even mentioned the hives or dermatographia. He sent me to an allergist.

Doctor number 3, the allergist. I explained the dermatographia and the fact that I had it, along with hives, since I was a kid. We had never been able to link the hives to any food and explained that sometimes I would break out in hives because of the heat or because of crying or getting stressed. He told me he couldn’t test me with the scratch test because I had dermatographia but that he could test my blood for allergies. He told me he didn’t think this would be helpful however because the would only be able to test for a few things and he said my hives sounded idiopathic. I went home without the test.

I followed up with my internist, doctor number 2, but while the nurse was taking my vitals she found I had a heart murmur. I was sent for an ultrasound of my heart and they found I had a mitral valve prolapse but told me it was nothing to be concerned about. I went back in later for the follow up and the nurse took my vitals and found I had a heart arythmia. They gave me a 24 hour heart monitor. I only actually ended up wearing the monitor for 20 hours because the sticky pad things they used caused my skin to blister up and peel off.

The cardiologist I saw, doctor number 4, told me my heart murmur was benign and then went on to suggest that maybe I was on too many medications due to the fact that I take an anti anxiety, and antidepressant.

Back to doctor number 2, my internist. He gave me two different anti-histamines and sent me home in hopes it would improve my symptoms.

All of my symptoms kept getting worse. I developed brain fog, trouble concentrating, headaches, and none of my previous symptoms improved. I turned to the internet in hopes of figuring out why I was fainting and read about postural orthostatic tachycardia syndrome or POTS for short. I went to my doctor that week and asked if he had ever heard of it. He told me he didn’t think that was what I had, as it was rare, and sent me home. My mother convinced me to go back and demand to be tested, and it turns out I do have POTS. On an average day, my heart rate laying is 55 and it jumps to 130 when I am standing.

Thankfully now that I know what is going on I was able to start managing symptoms and hoped it would help with everything from the fainting to fatigue, joint pain to brain fog.

I started developing new symptoms. My brain seems to scramble words when I read now or it messes up grammar. I have a persistent pain in my left side that doctors can’t explain. My rib cage in the front on my left side also goes through flair ups where it hurts when I breath and I have been developing migraines.

The fatigue got worse until I was only awake about 2-4 hours a day total and all of my lymph glands swelled up again. It felt like when I had mono so I went in to try and figure out what was going on. My internist sent me to doctor number 5, an infectious disease specialist, who told me I had a mono reactivation. At this point it had been exactly a year since I left college with my first bout of mono. He said it was really rare and he wanted to test my immune system. He ran a complete blood count, C-reactive protein test, t-cell test, and a few others. Everything came back normal.

My doctor said he had no idea why I got mono again and seems to have no idea what to do with my other symptoms! I want to ask for more tests but I don’t even know what tests to ask for anymore or what doctors to ask to see and I am afraid they are going to diagnose me as a hypochondriac!

Currently my symptoms are
– dermatographia
– hives (particularly when upset but often without obvious cause)
– migraines
– joint pain
– joint stiffness
– Nausea
– loss of appitite
– brain fog
– trouble concentrating
– extreme fatigue
– vomiting, sometimes without even feeling ill beforehand
– dizziness
– pain in my left side, about where my spleen is, but doctors say my spleen is not enlarged
– pain in my ribs sometimes when I breath that lasts a few hours
– no fevers ever.
-numbness and tingling in my hands and feet at times
– mouth ulcers. (I have had these since I was a kid. The come and go. I sort of get break outs of them)

Anyone have any ideas? Anything helps. I just want to go finish college and move on to my career but can’t do that while I am this sick! I am a 21 year old white female if that helps anything.

Liked by lucky1038

@christina65

I have been sick since Age 3. Thought it was CF for 13 years then told no. Have antiphospholipid syndrome, extreme muscle pain in neck and shoulders and spreading through my body, lightheadedness, dizziness, extreme fatigue, light numbness throughout my whole left side. Doctors have no idea… Please help me. This has been 36 years of my life.

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Hello @christina65, Welcome to Connect. I know it has to be hard for you having been sick for so long with all of the different symptoms and not being able to find a treatment that helps. There is another similar discussion where your post will receive more visibility and you will be able to meet other members with similar symptoms and learn from their experiences. I'm tagging our moderator @ethanmcconkey to see if we can move your post to the following discussion:

> Groups > Autoimmune Diseases > Autoimmune? Undiagnosed and don’t know where to go next
https://connect.mayoclinic.org/discussion/undiagnosed-and-dont-know-where-to-go-next/

There is also another discussion you may be interested in that shares many of the symptoms you listed.

> Groups > Women's Health > Chronic Illnesses of Millions of Women Left Untreated
https://connect.mayoclinic.org/discussion/chronic-illnesses-of-millions-of-women-left-untreated/

Have you thought about getting a second opinion from a major teaching hospital or the Mayo Clinic? Mayo Clinic is really good at diagnosing hard to diagnose health conditions. If you would like to seek help from Mayo Clinic, contact one of the appointment offices. The contact information for Minnesota, Arizona and Florida can be found here http://mayocl.in/1mtmR63.

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@christina65

I have been sick since Age 3. Thought it was CF for 13 years then told no. Have antiphospholipid syndrome, extreme muscle pain in neck and shoulders and spreading through my body, lightheadedness, dizziness, extreme fatigue, light numbness throughout my whole left side. Doctors have no idea… Please help me. This has been 36 years of my life.

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I was told about looking into Mayo Clinic and they may be able to help me. I live in pardeeville Wisconsin and have a family, and job so I would have to make sure I get everything done when I'm there during that time. I don't know if that's even possible?…

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@christina65

I was told about looking into Mayo Clinic and they may be able to help me. I live in pardeeville Wisconsin and have a family, and job so I would have to make sure I get everything done when I'm there during that time. I don't know if that's even possible?…

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@christina65, normally the different specialty areas of Mayo Clnic work together to try and schedule your appointments during your initial visit. Are you able to get your doctors to provide a referral and send your medical records based on your current situation?

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@christina65

I have been sick since Age 3. Thought it was CF for 13 years then told no. Have antiphospholipid syndrome, extreme muscle pain in neck and shoulders and spreading through my body, lightheadedness, dizziness, extreme fatigue, light numbness throughout my whole left side. Doctors have no idea… Please help me. This has been 36 years of my life.

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Yes, I should be hearing back from my primary on the 16th and will be seeing a Rheumatologist on the 24th of this month. I will metion this to them.
Thank you, Christina

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I have been sick since Age 3. Thought it was CF for 13 years then told no. Have antiphospholipid syndrome, extreme muscle pain in neck and shoulders and spreading through my body, lightheadedness, dizziness, extreme fatigue, light numbness throughout my whole left side. Doctors have no idea… Please help me. This has been 36 years of my life.

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Hi @christina65 you may have noticed I moved your post to this existing discussion that @johnbishop mentioned so that you can connect with fellow Connect members like @nire @socalgirlntx and @choover22 who have experience with undiagnosed autoimmune diseases. Simply click VIEW & REPLY in your email notification to get to your post.

How has your family supported you while you've been looking for answers?

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Have you check your thyroid FT3, FT4, TSH, TPO, TGAB, RT3, the thyroid is in charge of a lot of functions in the body

Liked by khali

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I'm not sure if the response regarding checking thyroid was for me but my thyroid was removed and replaced with Synthroid 150mg since 2013. Thank you.

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Hi, Beanie300. I have been through a lot of the same crap as you, and am still looking for truth. My best sources, so far, have been NIH (OMIM), Mayo and the University of Helsinki Hospital. And I have received a lot of suggestions in response to my writing about Gelsolin and posting it on line. Thing is, the real problem is that the medical world is just now learning to diagnose a lot of this stuff. Seems now that every diagnosis must be on the molecular level, dealing with the tiniest bits of disease. Symptoms and signs just do not cut it now. I have about 250 medically seen S&S which pin it down pretty well, but are not as good as Mass Spectrometry or even Congo Red. But OMIM is a great place to start. Online Mendelian something and NIH. My last ten doctors have all had to be educated to the existence of this knowledge.

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@oldkarl

Hi, Beanie300. I have been through a lot of the same crap as you, and am still looking for truth. My best sources, so far, have been NIH (OMIM), Mayo and the University of Helsinki Hospital. And I have received a lot of suggestions in response to my writing about Gelsolin and posting it on line. Thing is, the real problem is that the medical world is just now learning to diagnose a lot of this stuff. Seems now that every diagnosis must be on the molecular level, dealing with the tiniest bits of disease. Symptoms and signs just do not cut it now. I have about 250 medically seen S&S which pin it down pretty well, but are not as good as Mass Spectrometry or even Congo Red. But OMIM is a great place to start. Online Mendelian something and NIH. My last ten doctors have all had to be educated to the existence of this knowledge.

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If I am understanding this correctly I would please like to add this: It appears to me that MANY, MANY of the doctors of today seem to be less knowledgeable as compared to those of many years ago. How is the teaching of today's doctors (Last thirty years or so) COMPARED TO WHAT WAS? Sorry if I am not correct but this to me is a very dangerous situation.

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@peach414144

If I am understanding this correctly I would please like to add this: It appears to me that MANY, MANY of the doctors of today seem to be less knowledgeable as compared to those of many years ago. How is the teaching of today's doctors (Last thirty years or so) COMPARED TO WHAT WAS? Sorry if I am not correct but this to me is a very dangerous situation.

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@peach414144 – You are correct- medical education today is very different from 30+ years ago. The basic structure is still there in learning how the body works. There is such a lot of new data coming out continuously. In the old days doctors/students would buy one major book in Internal Medicine, Pediatrics, Surgery etc. it doesn’t work well like that now. Many illnesses change and as you mentioned illnesses are now studied on a molecular level.
Within each specialty are many subspecialties nowadays etc. The more complicated or unusual illness the less likely it is for your primary care doctor to know much about it. However, a doctor should know when to find help from others! Signs and symptoms help, but many are not specific. Unfortunately, we have to know ourselves when our doctor is not enough. A good primary care doctor can be very helpful in managing referrals etc. and interpreting test results for example if you are seeing specialists elsewhere.

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Been thinking much about your situation. Honestly, there are only a couple things I can offer from here. First, my own package of disorders is a combo of systemic and localized, acquired and inherited, fatal and minor, diagnosed and hidden. And it is probable that every person have a package of several disease that covers at least these characteristics and many more that we (at least I) do not know about. My package is generally systemic, slapping up against my whole body, not just an organ or tissue or two. Everything about me is a target. Second, most of mine is autosomal dominant, inherited from just one parent. But some are autosomal recessive, coming from both parents together. Some are minor, such as brown eyes, but some are fatal, such as RYR2, FKTN, Gelsolin. Some require a trigger to start their damage, such as some forms of cancer, or perhaps coronavirus or radiation. Some are reminiscent of single ethnic groups, some of multiple ethnic groups. My groups include: Ashkenazi Jew, Finnish, Portuguese, Irish, Scotch, German, Japanese, English, Welsh, and probably some others not sorted out yet. Texan? Paiute? Anyway, Many of us have an assortment of issues which can never be sorted out completely. It is better, I think, to just accept the new bits of knowledge that some along, and think: "Right now, I am focusing on Gelsolin (or whatever). Maybe I will learn more later from advanced molecular and genetic studies."

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@peach414144

If I am understanding this correctly I would please like to add this: It appears to me that MANY, MANY of the doctors of today seem to be less knowledgeable as compared to those of many years ago. How is the teaching of today's doctors (Last thirty years or so) COMPARED TO WHAT WAS? Sorry if I am not correct but this to me is a very dangerous situation.

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@peach414144 Right. And it is dangerous in many ways, but it is what it is. I have at least 3 DNA issues which are systemic in part or totally, affecting the whole body. RYR2, FKTN, GSN. That means Everything is targeted by these. But when I go to the doc, they want to limit the visit to one issue, per Medicare rules. BS. When I go, I need to mention a half dozen things at least, such as tachycardia, bleeding from the penis, syncope, orbital purpura and/or blepharochalaisis, liver failure, splenomegaly, nausea, dementia. I want the doc to, at least, get me some help for these issues. Problem is, the next closest specialist for any of these is about 2000 miles away.

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@oldkarl

@peach414144 Right. And it is dangerous in many ways, but it is what it is. I have at least 3 DNA issues which are systemic in part or totally, affecting the whole body. RYR2, FKTN, GSN. That means Everything is targeted by these. But when I go to the doc, they want to limit the visit to one issue, per Medicare rules. BS. When I go, I need to mention a half dozen things at least, such as tachycardia, bleeding from the penis, syncope, orbital purpura and/or blepharochalaisis, liver failure, splenomegaly, nausea, dementia. I want the doc to, at least, get me some help for these issues. Problem is, the next closest specialist for any of these is about 2000 miles away.

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I agree as we both see it for what it is. The doctor should treat THE WHOLE BODY and not just one symptom as any idiot knows they work together. We are a well mechanized machine and the oil (the bodies blood) feeds it with the cells and platelets within. I think the higher officials who own the doctors set the rules as this is the way they make more money at the expense of the patient. The expense is not just money but also the treatment of the patient. Now that I have put this in writing: Will I be put in my place by whomever? This seems to be the way we the patients are being treated nowadays. At my age of 82 I can see the difference and the younger people should know this. But I still have an open mind and will continue to evaluate accordingly. Love and caring to all Peach.

Liked by lioness

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@peach414144

I agree as we both see it for what it is. The doctor should treat THE WHOLE BODY and not just one symptom as any idiot knows they work together. We are a well mechanized machine and the oil (the bodies blood) feeds it with the cells and platelets within. I think the higher officials who own the doctors set the rules as this is the way they make more money at the expense of the patient. The expense is not just money but also the treatment of the patient. Now that I have put this in writing: Will I be put in my place by whomever? This seems to be the way we the patients are being treated nowadays. At my age of 82 I can see the difference and the younger people should know this. But I still have an open mind and will continue to evaluate accordingly. Love and caring to all Peach.

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P.S. Dear Oldcarl, yes I forgot to add that again you are correct. I (and am sure many others) have the same problem of not having the specialist close enough. To me this is a shame on the medical profession along with many others I am sure. Why is this being kept from the public? Do they think we are all idiots or do they not care as it seems to be. There is much more to this then just what we are presenting. What is their agenda besides money? Control? Do not look for me as I am in hiding and not just from this new virus!

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