1. < Autoimmune Diseases

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.

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

goodfriends | @goodfriends | Nov 30, 2020

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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1 reply
goodfriends | @goodfriends | Nov 30, 2020

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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Mentor
Ginger, Volunteer Mentor | @gingerw | Nov 30, 2020
In reply to @goodfriends "Look it took me years to get a confirmation of diagnosis .. if some reason you..." + (show)
@goodfriends

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.

Jump to this post

@goodfriends Thank you for sharing your story. You prove, once again, how important it is that we as patients take charge of our health, and not give up! While Low Dose Naltrexone regimen may not work for everyone, I am glad to hear it works for you. Unfortunately you had to go through a long trail of looking for supportive Dr's and medication attempt, but you paved the way to education.

Did you journal your path? It would be interesting to go back and read some of your entries, I bet!
Ginger

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daphne47 | @daphne47 | Dec 1, 2020
In reply to @brittafr "@johnbishop Thank you for noticing my comment. I have had debilitating fatigue and brain fog for..." + (show)
@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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Hi, I can relate to your fatigue. After I got mononucleosis at 17, my body kind of shut down. I have many problems stemming from this infectious disease. It has reactivated several times, known as the Epstein barr virus. Do you have trouble sleeping? I don't know if these would fit you but Narcolepsy, REM or sleep disorder. Maybe look at Endocrinology with Adrenal Gland issues, they can make you tired. Test tsh, hormones and auto nuclear antibodies. Just a few things I can think of. I try to eat a lot of protein, and eat smaller things throughout the day to help keep me awake. I also drink Carnation instant breakfast with milk, or milk substitute. Also had to learn to be a spoonie, and divide what energy I have each day.

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barcodebill | @barcodebill | Dec 1, 2020

keep trying different things 1 - get some vitamin b-12 pills - put one under your tongue .

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jen12 | @jen12 | Feb 3, 2023

Hello all,

I realize it's been years since I posted this or there was last activity on it, but I figured I could post an update just in case any Googlers out there find this post and wonder what ever happened to me.

In mid-2019, I was finally diagnosed with Ehlers Danlos - Hypermobile type by a rheumatologist after my PCP suspected it and referred me to her. This diagnosis still doesn't cover all of my symptoms, even now, but by the point that I had finally gotten this diagnosis, I was ready to stop looking for a while... As I'm sure you all know, going to appointment after appointment and getting test after test is truly exhausting, and I just wanted to rest once I finally had an answer that covered at least a good portion of my symptoms. It isn't treatable, really, but just having that answer was massively helpful.

I was also referred for autonomic testing at some point, and it was found that I had symptoms of 'borderline' POTS-- i.e., I hadn't *quite* met diagnostic criteria, but I clearly did have documented symptoms of it. One of my doctors put me on a medication for this (fludrocortisone), and it has been my personal #1 improvement to daily quality of life. I still feel sick basically every day, but my level of functioning has been brought to a point where I can at least do daily household tasks without much issue most of the time, which is better-off than I used to be.

I happened to go back to this same clinic for migraine treatment recently and they had me do another round of autonomic testing just to see if anything had changed, and I am still waiting on the full results, but I asked the technician about them as she was doing the test and it sounds like I actually did meet the diagnostic criteria this time around. I don't think anything regarding my care will change anyway, but it's interesting to see that after a couple years of being medicated for it, my symptoms (off of medication for 24 hrs) have actually gotten a little worse anyway.

The functional movement disorder did eventually clear up with physical therapy! So I guess that goes to show that even when we're annoyed and frustrated, treatment can still work hahaha

I got on disability, too, in late 2021 on my second round of appeals. That, along with receiving gov't healthcare and food stamps, has been life-changing for me. Knowing I can go to doctor's appointments without worrying about how I'm going to pay for yet another specialist has been massively helpful for both my mental and physical health.

Anyway, the final thing I have yet to check off my list of things I suspect I have but still haven't been able to get anyone to listen to me about is a CSF leak. I first suspected this very soon after I was diagnosed with Ehlers Danlos and was almost shocked to see how many symptoms I had of it and also that a spontaneous leak is much more likely to happen in Ehlers Danlos patients, but when I brought a print-out of the Mayo Clinic's CSF leak symptoms page to my PCP with all the symptoms I had highlighted, she basically told me in a gentle voice that yeah, maybe I had this, but it was really hard to get diagnosed and treated and she just wasn't sure where to even begin so it wasn't happening with her help-- that was back in 2019.

However! I finally got around to saying "hey, you know what, I'm going to try the Mayo Clinic one last time" and I self-referred to the neurology department in August 2022 stating the reasons I believed I should be assessed for this issue, and after six more months, I actually got offered an appointment. So! That's the reason I'm back here on Connect in the first place, I am doing research on what to expect and etc etc but I am finally, after over 5 years, about to check off the last thing I'd been wanting to get assessed for but couldn't get anyone to listen to me about until now.

I am honestly absolutely ecstatic! I literally couldn't believe it when I was told I was being offered an appointment, it felt like winning the lottery because I knew nobody else would take me seriously if even the Mayo Clinic wasn't willing to assess me for this complicated condition, so to hear that they're willing to look into it for me is the best news I've had in ages.

I am hoping that if anyone even reads this post, this update will serve as a sign that life keeps moving and you'll keep living and that even if things are hard, there are still bright spots in your future. It's easy to get bogged down in frustration and despair, but things will look up from time to time too, and those times are worth fighting for.

REPLY
1 reply
carolee888 | @carolee888 | Feb 4, 2023
In reply to @jen12 "Hello all, I realize it's been years since I posted this or there was last activity..." + (show)
@jen12

Hello all,

I realize it's been years since I posted this or there was last activity on it, but I figured I could post an update just in case any Googlers out there find this post and wonder what ever happened to me.

In mid-2019, I was finally diagnosed with Ehlers Danlos - Hypermobile type by a rheumatologist after my PCP suspected it and referred me to her. This diagnosis still doesn't cover all of my symptoms, even now, but by the point that I had finally gotten this diagnosis, I was ready to stop looking for a while... As I'm sure you all know, going to appointment after appointment and getting test after test is truly exhausting, and I just wanted to rest once I finally had an answer that covered at least a good portion of my symptoms. It isn't treatable, really, but just having that answer was massively helpful.

I was also referred for autonomic testing at some point, and it was found that I had symptoms of 'borderline' POTS-- i.e., I hadn't *quite* met diagnostic criteria, but I clearly did have documented symptoms of it. One of my doctors put me on a medication for this (fludrocortisone), and it has been my personal #1 improvement to daily quality of life. I still feel sick basically every day, but my level of functioning has been brought to a point where I can at least do daily household tasks without much issue most of the time, which is better-off than I used to be.

I happened to go back to this same clinic for migraine treatment recently and they had me do another round of autonomic testing just to see if anything had changed, and I am still waiting on the full results, but I asked the technician about them as she was doing the test and it sounds like I actually did meet the diagnostic criteria this time around. I don't think anything regarding my care will change anyway, but it's interesting to see that after a couple years of being medicated for it, my symptoms (off of medication for 24 hrs) have actually gotten a little worse anyway.

The functional movement disorder did eventually clear up with physical therapy! So I guess that goes to show that even when we're annoyed and frustrated, treatment can still work hahaha

I got on disability, too, in late 2021 on my second round of appeals. That, along with receiving gov't healthcare and food stamps, has been life-changing for me. Knowing I can go to doctor's appointments without worrying about how I'm going to pay for yet another specialist has been massively helpful for both my mental and physical health.

Anyway, the final thing I have yet to check off my list of things I suspect I have but still haven't been able to get anyone to listen to me about is a CSF leak. I first suspected this very soon after I was diagnosed with Ehlers Danlos and was almost shocked to see how many symptoms I had of it and also that a spontaneous leak is much more likely to happen in Ehlers Danlos patients, but when I brought a print-out of the Mayo Clinic's CSF leak symptoms page to my PCP with all the symptoms I had highlighted, she basically told me in a gentle voice that yeah, maybe I had this, but it was really hard to get diagnosed and treated and she just wasn't sure where to even begin so it wasn't happening with her help-- that was back in 2019.

However! I finally got around to saying "hey, you know what, I'm going to try the Mayo Clinic one last time" and I self-referred to the neurology department in August 2022 stating the reasons I believed I should be assessed for this issue, and after six more months, I actually got offered an appointment. So! That's the reason I'm back here on Connect in the first place, I am doing research on what to expect and etc etc but I am finally, after over 5 years, about to check off the last thing I'd been wanting to get assessed for but couldn't get anyone to listen to me about until now.

I am honestly absolutely ecstatic! I literally couldn't believe it when I was told I was being offered an appointment, it felt like winning the lottery because I knew nobody else would take me seriously if even the Mayo Clinic wasn't willing to assess me for this complicated condition, so to hear that they're willing to look into it for me is the best news I've had in ages.

I am hoping that if anyone even reads this post, this update will serve as a sign that life keeps moving and you'll keep living and that even if things are hard, there are still bright spots in your future. It's easy to get bogged down in frustration and despair, but things will look up from time to time too, and those times are worth fighting for.

Jump to this post

Very happy for you! I hope that things going well for you!

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spiritusheart22 | @spiritusheart22 | Feb 5, 2023

A good reminder that LIFE is not always easy. I am experiencing the delayed/bogged down of diagnosis and appointment setting with my husband's healthcare. He gets depressed, as you well know our health can be an emotional and stressful event. I am his cheerleader and advocate without question.

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Ingegerd Enscoe, Alumni Mentor | @astaingegerdm | Feb 8, 2023

@jen12
Welcome back and thank you very much for the update!
Just getting the Ehlers-Danlos diagnosis is a major step. You have been busy advocating for yourself even though you feel sick every day.
Congratulations on the Mayo appointment. That’s where you belong to get treated for the CSF leak.
Please continue with the updates after Mayo.
Our bodies certainly are complicated and don’t come with an instruction manual.
Impressed with how positive you sound!

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