Desperately Trying to Get Diagnosed

Posted by jen12 @jen12, Aug 17, 2018

I already posted this in the Neurology sub, but I wanted to post it here, too, as my symptoms seem relevant to autoimmune as well:

I have been sick for 9 months now. I was 23, no other known health problems, then suddenly I got extremely fatigued for about 2 weeks back in November– then I started getting muscle spasms, too. Now, I have been chronically fatigued for 9 months, & nothing eases the fatigue– there are only things that make it worse. Sleep does nothing, caffeine does nothing, rest does nothing… but if I don’t sleep, or miss a meal, or do any amount of exercise, or use my brain for more than very basic functions, my fatigue gets worse & it can take a few days to recover if I push myself too far. In addition, I have muscle spams only on the right side of my body that are triggered by physical activity. They make walking pretty impossible because my right leg has major random muscle contractions that I can’t control– walking makes my fatigue & spasms worse, anyways.

On top of all of that, I have brain fog, too. I used to work as a junior scientist in a lab researching muscular dystrophy at the University of Minnesota– I’d just graduated from college with a B.S. in biochemistry 6 months before all this started happening. Basically, I am trying to say that I really enjoyed being mentally stimulated and I liked to work out complex problems. Now, if I try to stimulate myself mentally, I can’t concentrate at all and I get really, REALLY tired. I get kind of confused and my short-term memory has gone to crap. I literally don’t even hear when people are talking to me unless they specifically get my attention first– my poor husband will tell me an entire story and my brain doesn’t even pick up that someone was talking if I’d been doing something other than talking to him when he began telling his story. I feel awful every time he has to ask, “Did you hear what I just said?” & that’s the first time I even registered his voice.

So now, I’ve seen several doctors (4 neurologists, a rheumatologist, 2 PCPs, an endocrinologist, & a psychotherapist). I have had a few abnormal test results that apparently don’t actually mean anything– which makes me wonder why the doctors had me pay to have them done in the first place. I had high insulin & C-peptide levels when I was tested in November (not a diabetic), but then it was never tested again. I had high Epstein-Barr Virus antibody titers in January, but then I was never tested again. I had high antibody titers against antistreptolysin O (Group A Strep) in June, but was told that didn’t mean anything (then why did the doctor order this test!!!). I had low acylcarnitine levels in January, then I was tested again in June and they were even lower, but I switched from a rheumatologist (who thought this was significant but didn’t know what it meant exactly) to a neurologist, and the neurologist literally ignored me when I mentioned it to him. So, there’s my 5 abnormal test results that apparently mean nothing, because the doctors I’ve spoken to either ignore them entirely or tell me that they are insignificant. I’ve never had mono (epstein-barr virus) or strep throat (antistreptolysin-O) before either, at least I’ve never thought I did or been diagnosed with either of them before, so idk why my antibody titers would be high (IgG antibodies for both, so the ones that indicate a previous infection but not a current one).

I was diagnosed with Functional Movement Disorder by a neurologist very recently for my muscle spasms only (not the fatigue & brain fog, so these are still 100% unresolved issues). He told me to get physical therapy, then told me most patients see a dramatic decrease in symptoms within 2-3 PT sessions & total & permanent absence of symptoms within 4-5 months. I got physical therapy for 4 months earlier this year (late December – mid-April), but I assumed that was not specifically targeting my muscle spasms & was more to prevent muscle atrophy, so I thought that this new PT was going to specifically target my symptoms. So, I saw the physical therapist that he highly recommended to me, & she told me that she looked over the previous physical therapists’ notes, and said she’d have done exactly the same therapy with me for Functional Movement Disorder. So like… what the hell, honestly? Did the doctor not know that I’d received PT for 4 months already? I called his office yesterday explaining that the new physical therapist just told me I’d basically already received treatment for the thing he diagnosed me with & that obviously it didn’t work after 4 months the first time, so it would be ridiculous to do the exact same thing again hoping for different results (still waiting on a call back regarding this). Also, the physical therapist he recommended ignored me when I told her at least 4 times during our 40-minute appointment that I crash if I push myself too hard, then she pushed me way too hard, & I had a horrible crash– she actually managed to induce new, worse symptoms in me because she pushed me too hard. Great, I really love being ignored by people who are supposed to be helping me & then ultimately being made sicker by them because they ignored me (sarcasm).

I have a whole slew of other, smaller symptoms, but these are the big ones. My question now is this: How on Earth do I get Mayo Clinic to accept me as a patient? My rheumatologist referred me to Neurology at Mayo & I was denied. Then a few days ago I tried to self-refer to Internal Medicine at Mayo as a last-ditch effort because I’d heard of someone who was rejected with a doc referral but got in on self-referral, & I got an email this morning saying I was rejected from Internal Medicine, too.

Do I just have to wait until I’ve been sick for years and years like all the other people I’ve read on here who have stories of finally getting diagnosed? I do not want to keep wasting my time with doctors who ignore what I say & keep telling me they don’t know what’s wrong with me without giving me any advice on what to do next. I am beyond frustrated that I have spent thousands of dollars I do not have only to still be at square 1 of diagnosis. My only thought of how to get diagnosed is to go to Mayo Clinic (Rochester, as I live in MN– I cannot afford to travel farther), but they are too full of other desperate people trying to get their diagnoses, and I can’t get in.

Tl;dr: Anyone have any tips on how I can get into Mayo Clinic – Rochester after being denied entry into both Neurology (w/ doctor referral) & Internal Medicine (self-referral)? Thank you so much for any advice.

@johnbishop Thank you for noticing my comment. I have had debilitating fatigue and brain fog for the past 16 years. I have trouble concentrating, thinking clearly, and sometimes even speaking. I graduated valedictorian of my high school, but now I can barely hold down a 20 hour per week job, working from home. I can't keep up with simple tasks like laundry and dishes. I severely limit social activity because just leaving the house makes me tired. Occasionally I wake feeling alert and happy about the day, but within an hour I literally feel alertness and motivation slipping away into a fog of tiredness and a heavy feeling in my eyes.

I've seen multiple general practitioners (and naturopaths) who have tried various things (thyroid medication, B12 shots, special diets, hormone supplements, etc.). Several years ago a primary care physician diagnosed me with Chronic Fatigue Syndrome, though I don't have any of the pain associated with CFS. It was a dead end; he didn't recommend any next steps (aside from stimulants) or refer me to any specialists. Therefore I haven't been able to rule out any underlying conditions that could be causing the fatigue. I was hoping Mayo could provide some insight, but both the General Internal Department at Scottsdale and the Chronic Fatigue Clinic at Rochester declined my appointment request and advised I go back to my local physician. I feel like I'm stuck in a chicken and egg situation because my local physician already couldn't help.

I recently learned about autonomic dysfunction while researching on my own. It sounds like a direction, if nothing else. I don't want to give up, but it's hard to know what to do next. Thanks again for your concern.

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@brittafr

@johnbishop Thank you for noticing my comment. I have had debilitating fatigue and brain fog for the past 16 years. I have trouble concentrating, thinking clearly, and sometimes even speaking. I graduated valedictorian of my high school, but now I can barely hold down a 20 hour per week job, working from home. I can't keep up with simple tasks like laundry and dishes. I severely limit social activity because just leaving the house makes me tired. Occasionally I wake feeling alert and happy about the day, but within an hour I literally feel alertness and motivation slipping away into a fog of tiredness and a heavy feeling in my eyes.

I've seen multiple general practitioners (and naturopaths) who have tried various things (thyroid medication, B12 shots, special diets, hormone supplements, etc.). Several years ago a primary care physician diagnosed me with Chronic Fatigue Syndrome, though I don't have any of the pain associated with CFS. It was a dead end; he didn't recommend any next steps (aside from stimulants) or refer me to any specialists. Therefore I haven't been able to rule out any underlying conditions that could be causing the fatigue. I was hoping Mayo could provide some insight, but both the General Internal Department at Scottsdale and the Chronic Fatigue Clinic at Rochester declined my appointment request and advised I go back to my local physician. I feel like I'm stuck in a chicken and egg situation because my local physician already couldn't help.

I recently learned about autonomic dysfunction while researching on my own. It sounds like a direction, if nothing else. I don't want to give up, but it's hard to know what to do next. Thanks again for your concern.

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@brittafr, There is a TED talk by Jennifer Brea who became progressively ill with myalgic encephalomyelitis that sounds a lot like what you are going through – What happens when you have a disease doctors can’t diagnose: https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

There is also another discussion where you can meet other members with similar symptoms that might be helpful.
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) treatments: https://connect.mayoclinic.org/discussion/myalgic-encephalomyelitis-chronic-fatigue-syndrome-me-cfs-treatments/

I would not give up trying to get an appointment at Mayo Clinic. I'm wondering if the following discussion with members who have also had problems getting an appointment might be helpful – Referral to Mayo declined for Autoimmune or Unknown Condition: https://connect.mayoclinic.org/discussion/referral-to-mayo-declined/

Did you try to make the appointment yourself or ask your doctor for a referral?

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@brittafr

@johnbishop Thank you for noticing my comment. I have had debilitating fatigue and brain fog for the past 16 years. I have trouble concentrating, thinking clearly, and sometimes even speaking. I graduated valedictorian of my high school, but now I can barely hold down a 20 hour per week job, working from home. I can't keep up with simple tasks like laundry and dishes. I severely limit social activity because just leaving the house makes me tired. Occasionally I wake feeling alert and happy about the day, but within an hour I literally feel alertness and motivation slipping away into a fog of tiredness and a heavy feeling in my eyes.

I've seen multiple general practitioners (and naturopaths) who have tried various things (thyroid medication, B12 shots, special diets, hormone supplements, etc.). Several years ago a primary care physician diagnosed me with Chronic Fatigue Syndrome, though I don't have any of the pain associated with CFS. It was a dead end; he didn't recommend any next steps (aside from stimulants) or refer me to any specialists. Therefore I haven't been able to rule out any underlying conditions that could be causing the fatigue. I was hoping Mayo could provide some insight, but both the General Internal Department at Scottsdale and the Chronic Fatigue Clinic at Rochester declined my appointment request and advised I go back to my local physician. I feel like I'm stuck in a chicken and egg situation because my local physician already couldn't help.

I recently learned about autonomic dysfunction while researching on my own. It sounds like a direction, if nothing else. I don't want to give up, but it's hard to know what to do next. Thanks again for your concern.

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@brittafr welcome to Connect. I can imagine how disappointing it must be to be denied an appointment, especially when you had hopes to finally find answers to the unknown. I am wondering if you have looked into the Mayo Clinic Care Network? https://www.mayoclinic.org/about-mayo-clinic/care-network

"The Mayo Clinic Care Network is a select group of independent health systems that are granted special access to Mayo Clinic's extensive knowledge and world-leading medical expertise. Carefully vetted and selected for their commitment to high-quality patient experience, care network members share Mayo Clinic's goal of providing patients the care they need, close to home, at no additional cost to the patient."

In case other attempts at an appointment at Mayo Clinic are not successful right now, here's a list of Network members and facilities for you to consider: https://www.mayoclinic.org/about-mayo-clinic/care-network/members

Is there a location close to you on this list?

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@brittafr

@johnbishop Thank you for noticing my comment. I have had debilitating fatigue and brain fog for the past 16 years. I have trouble concentrating, thinking clearly, and sometimes even speaking. I graduated valedictorian of my high school, but now I can barely hold down a 20 hour per week job, working from home. I can't keep up with simple tasks like laundry and dishes. I severely limit social activity because just leaving the house makes me tired. Occasionally I wake feeling alert and happy about the day, but within an hour I literally feel alertness and motivation slipping away into a fog of tiredness and a heavy feeling in my eyes.

I've seen multiple general practitioners (and naturopaths) who have tried various things (thyroid medication, B12 shots, special diets, hormone supplements, etc.). Several years ago a primary care physician diagnosed me with Chronic Fatigue Syndrome, though I don't have any of the pain associated with CFS. It was a dead end; he didn't recommend any next steps (aside from stimulants) or refer me to any specialists. Therefore I haven't been able to rule out any underlying conditions that could be causing the fatigue. I was hoping Mayo could provide some insight, but both the General Internal Department at Scottsdale and the Chronic Fatigue Clinic at Rochester declined my appointment request and advised I go back to my local physician. I feel like I'm stuck in a chicken and egg situation because my local physician already couldn't help.

I recently learned about autonomic dysfunction while researching on my own. It sounds like a direction, if nothing else. I don't want to give up, but it's hard to know what to do next. Thanks again for your concern.

Jump to this post

@brittafr You might want to consider the possibility of Lyme disease. Seek a doctor in the ILADs group because they are the specialists in Lyme and related infections. The Western Blot blood test for Lyme is not very accurate. The more accurate tests are from the Igenex lab. You may be able to find a Lyme literate doctor by contacting them or on the ILADS website.

Here is a lot of Lyme information.
https://www.vox.com/the-highlight/2019/6/18/18677511/lyme-disease-diagnosis-health
https://www.lymedisease.org/lyme-basics/co-infections/babesia/
Here are some links that describe the challenges with testing for Lyme disease which isn't just one specific organism causing an infection, but many. The accuracy of a blood test is also affected by how long it has been since exposure to infection, and if the body has mounted an immune response against it, and how that would change over time. The Igenex test covers more bands in comparison which you can read about from the link below. For some of the co-infections that accompany the Lyme bacteria, there are no diagnostic tests and the doctor evaluates the patient physically in addition to testing they do. They might test to see how many specific white blood cells are responding to an infection because Lyme can destroy the white cells that are trying to protect the body by fighting it, and the test would show a reduction in the white cells.
https://www.ilads.org/research-literature/controversies-challenges/
https://iladef.org/education/lyme-disease-faq/
https://igenex.com/the-igenex-advantage/
https://igenex.com/ Lyme destroys white blood cells that are your immune system.

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anyone can make an appointment … just call

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@brittafr

@johnbishop Thank you for noticing my comment. I have had debilitating fatigue and brain fog for the past 16 years. I have trouble concentrating, thinking clearly, and sometimes even speaking. I graduated valedictorian of my high school, but now I can barely hold down a 20 hour per week job, working from home. I can't keep up with simple tasks like laundry and dishes. I severely limit social activity because just leaving the house makes me tired. Occasionally I wake feeling alert and happy about the day, but within an hour I literally feel alertness and motivation slipping away into a fog of tiredness and a heavy feeling in my eyes.

I've seen multiple general practitioners (and naturopaths) who have tried various things (thyroid medication, B12 shots, special diets, hormone supplements, etc.). Several years ago a primary care physician diagnosed me with Chronic Fatigue Syndrome, though I don't have any of the pain associated with CFS. It was a dead end; he didn't recommend any next steps (aside from stimulants) or refer me to any specialists. Therefore I haven't been able to rule out any underlying conditions that could be causing the fatigue. I was hoping Mayo could provide some insight, but both the General Internal Department at Scottsdale and the Chronic Fatigue Clinic at Rochester declined my appointment request and advised I go back to my local physician. I feel like I'm stuck in a chicken and egg situation because my local physician already couldn't help.

I recently learned about autonomic dysfunction while researching on my own. It sounds like a direction, if nothing else. I don't want to give up, but it's hard to know what to do next. Thanks again for your concern.

Jump to this post

@brittafr. Good afternoon. You sound a lot like me. Before I was diagnosed, the only thing anyone could find was vomiting and dehydration. I couldn’t walk well or even think. Finally, they paid attention when I ended up, almost non- responsive, in the ER. An MRI showed many lesions on my brain causing all my problems.
I know you’ve seen naturopaths and GPs, but I urge you to go to a major medical center or a university medical center. I am now being treated by a neurologist-immunologist. It’s a painfully slow process, but you need to start getting well. Becky

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please keep in touch, let us know what your diagnosed with.

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I can think of two things that cause some of those symptoms: Lyme ( or one of the MANY tick diseases such as ehrlichiosis) or silicone implants.

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@brittafr

@johnbishop Thank you for noticing my comment. I have had debilitating fatigue and brain fog for the past 16 years. I have trouble concentrating, thinking clearly, and sometimes even speaking. I graduated valedictorian of my high school, but now I can barely hold down a 20 hour per week job, working from home. I can't keep up with simple tasks like laundry and dishes. I severely limit social activity because just leaving the house makes me tired. Occasionally I wake feeling alert and happy about the day, but within an hour I literally feel alertness and motivation slipping away into a fog of tiredness and a heavy feeling in my eyes.

I've seen multiple general practitioners (and naturopaths) who have tried various things (thyroid medication, B12 shots, special diets, hormone supplements, etc.). Several years ago a primary care physician diagnosed me with Chronic Fatigue Syndrome, though I don't have any of the pain associated with CFS. It was a dead end; he didn't recommend any next steps (aside from stimulants) or refer me to any specialists. Therefore I haven't been able to rule out any underlying conditions that could be causing the fatigue. I was hoping Mayo could provide some insight, but both the General Internal Department at Scottsdale and the Chronic Fatigue Clinic at Rochester declined my appointment request and advised I go back to my local physician. I feel like I'm stuck in a chicken and egg situation because my local physician already couldn't help.

I recently learned about autonomic dysfunction while researching on my own. It sounds like a direction, if nothing else. I don't want to give up, but it's hard to know what to do next. Thanks again for your concern.

Jump to this post

@brittafr I saw an amazing show last night by Jennifer Brea on PBS “Independent Lens.” It was a show she recorded herself about her experience . She was finally diagnosed with chronic fatigue syndrome. I think she found a neurologist-immunologist. I don’t have CFS, just another difficult to figure-out autoimmune disease.
Have you been to a large medical center or a university hospital? Really good rheumatologist’s also can help with autoimmune diseases. I really wish you luck. Getting a diagnosis can be a difficult journey (I was tired of being told ‘it’s all in your head’).
Have you found any help recently?

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I cannot tell you what you have, but an easier way to find out. Several companies specialize in finding your genetic issues. Sequencing.com, AmbryGen.com, etc. SO: go on line to Sequencing.com, and see what genetic files they can work with. Then have Ambry or AncestryDNA do a quick and easy DNA file on you. Then you can either send that file to Sequencing.com, or another outfit, or start working on it yourself. Read the data, especially the OMIM numbers, then go on the OMIM site or one of the others, GeneCards or something, and find those numbers to tell you what problem they refer to. It is easier, of course to have someone process the file with BAM or whatever, but there are ways to make it as low cost as possible. I found my own source for about 20 DNA issues that all relate to GSN. But that was only in the first hour. But I am sending the file to Sequencing to have it processed properly. I think it will be worth the small cost. I tried Mayo a few years ago, but I did not have the $7 grand to do it. Also, Medicare sometimes, if you beg and plead and get in good with the president, will help with the cost. Tell them you have about 50 in your blood kin waiting for your results.

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Look it took me years to get a confirmation of diagnosis .. if some reason you can't get into Mayo University of Chicago initially made my diagnosis but because it was considered rare I was awash in you couldn't possibly have it it's too rare…well the reality was that it was rare because it was under diagnosed ….so when the ENT made the diagnosis it was doubted by Rheumatology .. I literally got every diagnosis in the book except the right one…and went through every medicine in the doc bag but either it didn't work or I had major life threatening reactions to it and still no confirmation of diagnosis.and my primary said time to call Mayo and got confirmation of diagnosis but I was fed up with the crap care…fortunately my friend got tired of hearing me get so angry at the care I was getting…that she referred me to her Rheumatologist and I finally found someone open to considering that it was what was originally diagnosed…last group of meds he tried were biologics but again my body rejected it and I landed in hospital with major reactions for two weeks. He sat me down and we had the talk about settling my affairs…but I wasn't ready to throw in the towel and quit. The answer was out there…I belonged to a support group on Facebook that had a woman who had been living with it for 30 years so I knew what I was told that I had five years to live was bullshit…and I nagged the hell out of them to start a foundation. .I put a fire in the hearth and one got started…research is now being done at NIH…I am in remission thanks to a woman in that support group that was a nurse who suggested two other options …Wahl's Protocol and LDN…First if all you have to clean up your diet…Organic as as possible..forget fast food … take a look at an anti inflammatory diet…follow it.. Wahl's Protocol I knew I couldn't follow…it is very rigid…so I went with trying the LDN which should have been tried first as it has the least number of side effects and for thirty years has been putting people with AI dxs into remission…I would not have as much damage if it had been used first…But I was teaching doctors all along and now it's finally starting to get the recognition both for the disease and LDN…do take a look at it.. You are going to have to be your own advocate. You are going to have to learn as much as you can. Right after the initial diagnosis I spent months in the library teaching myself…You are bright, know how to research, do it for yourself. . Go through your primary first to get an appointment at Mayo…count on yourself. There is a fibro LDN Group on Facebook as well as fibro group. Good Luck. .and hang in there. By the way the photo above is my 60mg pred/daily photo…moonface pred blush..and this is brief synopsis of 8 year journey for answers. You will have your own story.

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Lyme is a possibility but so is black mold…mine started because of mold behind wallpaper and a leak from an upstairs apartment …and I was a heavy outdoors person so they initially tested me for Lyme and parasites..Test your environment for mold….if it's there and you rent move…if it's your house remediate it(Expensive)…Again be your own advocate.

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