1. < Autoimmune Diseases

Autoimmune diagnosing problem

Posted by Brie @brie87144, Jul 20, 2016

I don't know what to do at this point. I'll give some of back my story, up until I got extremely sick in October 2014, I was completely healthy and what I considered normal. I rarely went to the Doctor for anything, rarely got sick and I was always on the go. I'm a 32 year old female, married with 2 kids. In October 2014 I came down with some sort of virus. I was extremely sick for about a week. Within 2 days of feeling better I started having pins and needles only on my left side in my arm, hand, leg and foot; my left leg also started falling asleep. I just thought all that was weird and went on with my life, not seeing a dr or anything. Starting in January of 2015, my symptoms started getting worse. I was walking through a parking lot when I lost complete feeling of my left leg and fell. It lasted about 30 mins or so before I started getting feeling again. By this time my pins and needles were staying constantly, the numbness was becoming more frequent, and now my left side was extremely weak. After visiting my primary she confirmed the weakness, ran a bunch of lab work and referred me to a neurologist in my area. Fast forward to December 2015, I had 2 mri's, completed physical therapy and been seen by 2 neurologists, both of which told me they didn't want to spend the time to help figure anything out. My pins and needles had now migrated to the right side, and my face; I lose complete feeling in my left and right legs, more on the left, as well as in my left hand; My bladder started giving me issues retaining and releasing; I frequently become so extremely tired I can't get out of bed for days, sleeping the entire time; my balance is so out of whack that there are days I'm walking and I look like I'm drunk because I can't walk well; started having memory issues, as well as word finding issues. Because of the random dead leg, and balance issues, I fall frequently. So I decided to come to Mayo Clinic.

They have done numerous tests and blood work. I have had a full spinal and brain MRI, EMG (x2), spinal tap, skin biopsy, audiology testing, balance testing, ARS, QSTAT, BAER, VER, SSER, Nystagmography Tests, Tilt table testing, dynamic posturography tests, urology testing, and I'm sure some others I can't think of right now and all have come back clear except a few small issues, but don't offer any insight to my issues. I came back positive for small fiber neuropathy, I failed all six stages of my balance testings but because I didn't need assistance the dr said he won't consider it failed and nothing was done, they found mild bilateral hearing loss, and my tilt table came back slightly abnormal.

I've seen consultative med, hematology, neurology, urology, integrative medicine, and psychiatry. No one can figure out what's going on but my life has changed so much that I need to figure out what's going on so I can either treat it or figure out how to deal with it. I have a hard time staying awake, my balance is completely off, I randomly lose feeling in places and fall, I'm weak on my left side and have issues standing for long. I was going to school full time and had a 3.85 GPA until this now it's dropped to a 2.75. I can't keep up with anything and I don't know how I'm going to work when I can't tell when there will be days I can't wake up or get up. Or when My balance is so unstable I can't walk with out help.

I was referred to neuromuscular and saw the Dr this morning. He said I won't treat anything until we know more, which is fine because I want to know more. But told me to have a great day and didn't tell me what to do next or where to go from here. He just said send me a message of it gets worse. I don't have any other appointments or outlook on what to do now. I'm not out seeking, looking for, or even asking for medications. I just want to figure out some sort of normal. I don't know how I'm supposed to help support my family or work of I can't even do anything. But not knowing I don't have many options, can't get medical help or anything.

I'm so frustrated and feel like everyone's brushed me off. What I wouldn't give to just feel normal again or at least have an answer.

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

JohnWBurns | @johnwburns | Aug 7, 2016
In reply to @davidwhitehurstbrown "@brie87144 @brie87144 As a non-physician, I shall give you my opinion, but keep in mind that..." + (show)
@davidwhitehurstbrown

@brie87144 @brie87144
As a non-physician, I shall give you my opinion, but keep in mind that my opinion might be completely worthless or DEVASTATINGLY DANGEROUS. My first impression upon reading about your symptoms is that you might have multiple sclerosis (MS), or perhaps some syndrome that is a differential diagnosis for MS, such as acute progressive multifocal leukoencephalitis or several other syndromes.
http://emedicine.medscape.com/article/1146199-differential “Multiple Sclerosis Differential Diagnoses”

From Wikipedia, “A person with MS can have almost any neurological symptom or sign, with autonomic, visual, motor, and sensory problems being the most common. The specific symptoms are determined by the locations of the lesions within the nervous system, and may include loss of sensitivity or changes in sensation such as tingling, pins and needles or numbness, muscle weakness, very pronounced reflexes, muscle spasms, or difficulty in moving; difficulties with coordination and balance (ataxia); problems with speech or swallowing, visual problems (nystagmus, optic neuritis or double vision), feeling tired, acute or chronic pain, and bladder and bowel difficulties, among others.”
https://en.wikipedia.org/wiki/Multiple_sclerosis#Signs_and_symptoms

https://en.wikipedia.org/wiki/Helminthic_therapy

If I thought I had MS, I might be crazy enough to try the following non-FDA-approved experimental therapy:
https://autoimmunetherapies.com/candidate_diseases_for_helminthic_therapy_or_worm_therapy/multiple-sclerosis_helminthic_therapy.html

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So you are basically saying that she could be experiencing any autoimmune illness that affects the CNS and that could be MS, Lupus, Sjogren's etc. and from that she should consider jumping directly to an experimental therapy rather than establishing a diagnosis and going with proven treatments first? Your MS symptom extract from Wikipedia could be duplicated by any autoimmune disease that severely impacts the CNS. Here are a couple of links to Sjogren's manifesting as 'MS' or neurological disease:

http://www.ncbi.nlm.nih.gov/pubmed/24739412http://www.ncbi.nlm.nih.gov/pubmed/27110384

and Lupus

http://www.ncbi.nlm.nih.gov/pubmed/24238696

The point is that every effort should be made to triangulate on the specific illness so treatment can be guided accordingly rather than leaping to alternatives with systemic impact.

REPLY
JohnWBurns | @johnwburns | Aug 7, 2016

You remind that you are not a physician and "keep in mind that my opinion might be completely worthless or DEVASTATINGLY DANGEROUS". And here you go on to repeat your recommendation from above. So, since you seem to be somewhat insistent about it I have to ask what association you have with what you recommend and what your interest is in it, if any?

Fyi, I'm not not a physician either. That's why I'm not insinuating a diagnosis or recommending a treatment, much less an experimental treatment.

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Kimberly | @sebley12 | Aug 10, 2016

Please visit http://www.aarda.org for a list of over 100 autoimmune related diseases and I really wish you the best of diagnosing and health!!!!

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Kimberly | @sebley12 | Aug 16, 2016
In reply to @wesbig "I have been going to doctors for years, being treated for Hasimotes disease. Everything was cool..." + (show)
@wesbig

I have been going to doctors for years, being treated for Hasimotes disease. Everything was cool until the last few years. I am being plagued by fatigue, joint aches lesions in the mouth and tinnunitis. I have been to two rheumatologist, both said I have and autoimmune disorder, but don't know what. I am currently on Plaquenil for the last month with no relief. My question is how long does it take to get a diagnosis.

Jump to this post

REPLY
Kimberly | @sebley12 | Aug 16, 2016
In reply to @johnwburns "Don't give up. There is always a little bit more that can be checked, a fresh..." + (show)
@johnwburns

Don't give up. There is always a little bit more that can be checked, a fresh set of eyes could make the difference. Have you had an expert work up by a rheumatologist/immunologist? Have the basic autoimmune markers like ANA been checked and inflammation or lack of it noted? I can't pretend that I would catch anything that all of these experts have missed. I've heard of strange syndromes following an infection like:

http://www.ninds.nih.gov/disorders/gbs/detail_gbs.htm

but there are less obscure things that can cause strange overlapping symptoms, like Lyme Disease.

If you haven't seen an rheumatologist/immunologist put that next on your list. If you have, you might want him/her to check for more antibodies. I was very sick for several years and kept going to the doctor and complaining about it. They ran lots of blood work and found nothing other than mild anemia and that I carried HLA-B27. I started having episodes of freezing, shaking and weakness lasting several hours. Eventually I collapsed in the waiting room and when I was admitted into the hospital they ran some tests and told me that I had Grave's disease and was experiencing thyroid storm. Not a parallel with you but the point is that I bugged them for several years and it turns out they never ran thyroid tests until I almost dropped dead. Even good doctors can have a blind spot so you have to be a squeaky wheel, unpleasant s it may be. Hang in there.

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NOTE from the Community Director @colleenyoung
This post was removed as it contravened the Terms of Use policy. "You shall not upload, email, post or transmit to, or distribute or otherwise publish through the web site any material which: ... (ix) contains solicitations or advertisements of any kind;...

https://connect.mayoclinic.org/terms-of-use/
REPLY
JohnWBurns | @johnwburns | Aug 16, 2016
In reply to @johnwburns "Don't give up. There is always a little bit more that can be checked, a fresh..." + (show)
@johnwburns

Don't give up. There is always a little bit more that can be checked, a fresh set of eyes could make the difference. Have you had an expert work up by a rheumatologist/immunologist? Have the basic autoimmune markers like ANA been checked and inflammation or lack of it noted? I can't pretend that I would catch anything that all of these experts have missed. I've heard of strange syndromes following an infection like:

http://www.ninds.nih.gov/disorders/gbs/detail_gbs.htm

but there are less obscure things that can cause strange overlapping symptoms, like Lyme Disease.

If you haven't seen an rheumatologist/immunologist put that next on your list. If you have, you might want him/her to check for more antibodies. I was very sick for several years and kept going to the doctor and complaining about it. They ran lots of blood work and found nothing other than mild anemia and that I carried HLA-B27. I started having episodes of freezing, shaking and weakness lasting several hours. Eventually I collapsed in the waiting room and when I was admitted into the hospital they ran some tests and told me that I had Grave's disease and was experiencing thyroid storm. Not a parallel with you but the point is that I bugged them for several years and it turns out they never ran thyroid tests until I almost dropped dead. Even good doctors can have a blind spot so you have to be a squeaky wheel, unpleasant s it may be. Hang in there.

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Kimberley, This is a sad story indeed and we'll all hope that she gets what she needs to survive. But I'm not sure if this is the right site for fundraising. Adding Colleen on that question. Probably more of a Facebook thing.
Jim
@colleen

REPLY
helloshelly7969 | @helloshelly7969 | Sep 21, 2016
In reply to @wesbig "I have been going to doctors for years, being treated for Hasimotes disease. Everything was cool..." + (show)
@wesbig

I have been going to doctors for years, being treated for Hasimotes disease. Everything was cool until the last few years. I am being plagued by fatigue, joint aches lesions in the mouth and tinnunitis. I have been to two rheumatologist, both said I have and autoimmune disorder, but don't know what. I am currently on Plaquenil for the last month with no relief. My question is how long does it take to get a diagnosis.

Jump to this post

Thank you for posting this info. It is a hopeful message and an acknowledgement that I am not alone. I wish you a great day!

REPLY
cathy~ | @cathyh | Mar 24, 2017
In reply to @johnwburns "Don't give up. There is always a little bit more that can be checked, a fresh..." + (show)
@johnwburns

Don't give up. There is always a little bit more that can be checked, a fresh set of eyes could make the difference. Have you had an expert work up by a rheumatologist/immunologist? Have the basic autoimmune markers like ANA been checked and inflammation or lack of it noted? I can't pretend that I would catch anything that all of these experts have missed. I've heard of strange syndromes following an infection like:

http://www.ninds.nih.gov/disorders/gbs/detail_gbs.htm

but there are less obscure things that can cause strange overlapping symptoms, like Lyme Disease.

If you haven't seen an rheumatologist/immunologist put that next on your list. If you have, you might want him/her to check for more antibodies. I was very sick for several years and kept going to the doctor and complaining about it. They ran lots of blood work and found nothing other than mild anemia and that I carried HLA-B27. I started having episodes of freezing, shaking and weakness lasting several hours. Eventually I collapsed in the waiting room and when I was admitted into the hospital they ran some tests and told me that I had Grave's disease and was experiencing thyroid storm. Not a parallel with you but the point is that I bugged them for several years and it turns out they never ran thyroid tests until I almost dropped dead. Even good doctors can have a blind spot so you have to be a squeaky wheel, unpleasant s it may be. Hang in there.

Jump to this post

Please remember the ANA is NOT a test for lupus. 97% of the people who have lupus have a positive ANA, so you can't rule it out. Also, there are perfectly healthy people who have a positive ANA. A diagnosis should be based on your medical history, blood work, clinical findings, and other tests the doctor may perform.

REPLY
oldkarl | @oldkarl | May 19, 2017

Brie87144, I hope you are still on line, and curious. I have been thinking about your issues, and I have something to add. Please visit http://www.aarda.org for a list of autoimmune diseases. Why? I think I see in your list of tests no mention of kidney failure or issues. I say this because my kidneys do not wash out all the broken or mis-folded proteins from my plasma and serum. Then those proteins die in a couple hours and deposit themselves in any tissues, including nerves, muscles, bones, etc. They get in between cells in nerves and cause broken links in control nerves and sensory nerves. This cause paralysis, de-sensitization, shorted signals going from the brain to the tissues such as heart, stomach, muscles, etc. My simple suggestion is to have your doctor do a SERUM Free Light Chain@ assay, and send it to ARUP, Stanford, Mayo, Quant, Mass Gen, Sloan-Kettering, etc. Also do a 24-hour urine collection/protein search. If either of these proves positive, move up the scale on the tests. One of these top lobs can guide your process. I only know this much because I am going through the dX process with amyloidosis now, and am finally getting close to the truth. The diagnosis timeline in this area can last up to a half century. I started asking for help in about 1980. The disease is just now getting to the stage where dx is possible, although it will actually be more of a prognosis than a dx. So keep pushing your doctors. Educate yourself and your docs.

REPLY
6 replies
Amy | @larsona10 | May 19, 2017
In reply to @oldkarl "Brie87144, I hope you are still on line, and curious. I have been thinking about your..." + (show)
@oldkarl

Brie87144, I hope you are still on line, and curious. I have been thinking about your issues, and I have something to add. Please visit http://www.aarda.org for a list of autoimmune diseases. Why? I think I see in your list of tests no mention of kidney failure or issues. I say this because my kidneys do not wash out all the broken or mis-folded proteins from my plasma and serum. Then those proteins die in a couple hours and deposit themselves in any tissues, including nerves, muscles, bones, etc. They get in between cells in nerves and cause broken links in control nerves and sensory nerves. This cause paralysis, de-sensitization, shorted signals going from the brain to the tissues such as heart, stomach, muscles, etc. My simple suggestion is to have your doctor do a SERUM Free Light Chain@ assay, and send it to ARUP, Stanford, Mayo, Quant, Mass Gen, Sloan-Kettering, etc. Also do a 24-hour urine collection/protein search. If either of these proves positive, move up the scale on the tests. One of these top lobs can guide your process. I only know this much because I am going through the dX process with amyloidosis now, and am finally getting close to the truth. The diagnosis timeline in this area can last up to a half century. I started asking for help in about 1980. The disease is just now getting to the stage where dx is possible, although it will actually be more of a prognosis than a dx. So keep pushing your doctors. Educate yourself and your docs.

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Hi Karl,
Yes, I've been reading your posts and thank you for your guidance and comments. I spoke to the Mayo Clinic yesterday and they gave me their NPI # and the Lacrosse phone number, so that was helpful. My doctor recorded kidney problems (Stage III) in my chart which I eventually noticed, but we never discussed it. I try to drink water daily but I know it's not enough. I awoke so tired today again. I try not to eat many grains. I'll order the labs as you suggest and will let you know what the findings are. Remember Karl, "wild caught" meats and fish to avoid the amyloid proteins. Try that for a little while or buy the book "Wildetarian". I'll turn you into a hunter yet! Anyway, I'll see my chiropractor this afternoon who is also a naturopath, so he might suggest a remedy after reviewing my medical history. I am taking one gram Taurine daily per my functional doctor for adrenal fatigue. That has already been diagnosed. Do you know of temporary housing for people like me, who cannot work and are in a hotel? It's getting slightly more than I can afford. I'm trying Air BNB now in Milwaukee but you seem to be knowledgeable of a lot of things. I believe I might be able to get back to work this summer if I can get the right help. But for now, the hotel, even though it has a kitchen, is starting to be an expense that is no longer affordable. I'm just asking -- not meaning to put you on the spot and I'm no victim, trust me. Don't believe in victimhood whatsoever. Also, don't think I am looking for funds or anything like that, just wondering if there are living situations that might be more affordable. Maybe I should move up to Lacrosse? Now that's a thought. Buy I'll definitely take your suggestions seriously and begin the process as you suggest. Amy

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