1. < Autoimmune Diseases

Undiagnosed Autoimmune Disease - No one will listen to me

Posted by katies0lvi3 @katies0lvi3, Jun 11, 2022

Hello All - so would love some advice or thoughts.
I'm 43, wife and mother of 3. In May 2017, healthy but slightly overweight, I went to visit family in Texas and had strep throat (which I had about 4 previous times in the previous 2 years). Took antibiotics full round, returned home. Two days after finishing antibiotics, I woke up and could barely even move (couldn't even pull my covers over me, barely walk, severe joint pain muscle pain, you name it. Went to Doc and they sent me to rheumatologist.
They ran so many test with really no avail. The only thing that came up positive was HLA-B27. At the time ANA was negative.
Over the last six years it has been just so much joint pain, muscle pain, muscle weakness. They tried plaquinel first, nothing. Then started my process of biologics. I moved rheumatologist a couple of years into it and she ran more test, but still not much answers. I was put in the spondyloarthropathy category, but really unspecified. My new rhematologist over the last few years has been thorough but has really put me in the complex sector of things. Here's current breakdown:
> have Chronic Kidney Disease, unspecified found in 2008 with proteinuria only; two kidney biopsies only showed some scarring but nothing else
> Clinically: Knees, Elbows, Ankles feet inflammed, swollen, heat; muscle weakness in arms, some tingling in arm and thigh; right SI joint pain (chiropractor manages well); weight gain from predisone and lack of mobility); ringing ears, tops of hands swell for several days at a time; ankles swollen throughout day; itching skin, some low grade fevers at time; High blood pressure; fatigue, cant focus; memory bad
> CRP and ESR both elevated in the 80's - 100's most of the time, can dip down to 50's, 30's if biologic works
> New last month ANA: Positive, 1:2560, Homogenous
> ANA Antibidies: dsDNA was 1, all other antibodies were <0.2 (ALL within normal range) :/
> Vit D: deficient (lowest 11, highest 32) last 5-6 years, currently on 100,000 dose
> Vit B: also low, currently taking injections every other week
> Homocysteine: elevated
> CBC: all normal except elevated WBC (prednisone) and HBG slight low; RDW slight elevated
> CMP: all normal except for creatinine (High) and GFR (Low) from CKD
> All GI scans normal (with only a little GI involvment)
> On my six biologic with doc submitting under Ankylosing Spondylitis
> All Thyroid testing normal except Reverse T3 Elevated
> No RA positive labs
> Started seeing Functional Medicine Practitioner and did mold testing, negative; she is going to help me get rid of inflammatory foods to hopefully help some

Really just frustrated at lack of answers! I know my Rheumatologist is doing her best…I’m just complex. My insurance just denied my next infusion because of dx of 'undifferentiated spondyloarthropathy' being experimental. Doc is considering change of dx to seronegative RA so we have option of a IL-17 drug instead of TNF Blockers. So trying to consider that option.

Any thoughts would be greatly appreciated.
Thanks!

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TSB | @terrirussell | Jan 16, 2023
In reply to @lexaprobiotic "I have had several symptoms that are all consistent with an Autoimmune Disease, but no doctor..." + (show)
@lexaprobiotic

I have had several symptoms that are all consistent with an Autoimmune Disease, but no doctor will ever give me a diagnosis or do further testing to determine one. I have been to emergency care, undergone several tests for indicators, and seen several specialists, but for some reason they are all clueless despite their proficiency in medicine.

I have bad joint pain, sudden bouts of severe itchiness, occasional numbing in my left arm (which isn't common but not unheard of), severe fatigue, swelling in my joints (specifically in my fingers), and the swelling of my lymph nodes. I know this is immune related because taking an antihistamine like Benadryl normally clears it up for a short time. My symptoms started almost immediately after I got COVID for the first time a couple months ago. The most likely causes are Lyme Disease, Rheumatoid Arthritis, Lupus, Sarcoidosis, or another autoimmune disease. (I say Lyme Disease because I was bit by a tick a few weeks later but my symptoms were pre-existing that.)

I feel like this is important, but no one is taking me seriously. I go in, get tests done, my results are fine, and they send me home saying not to worry about it. I am told I don't have any of the usual markers or indicators, and that I'm young and healthy, but how can I not worry when my knees buckle with random joint pain, or I'm trying not to sleep the day away because I'm so tired and can't get out of bed?

I don't know what to do right now honestly. If anyone with similar or the same symptoms could give input on their own diagnoses that would be great. I could really use some advice or ideas on how to get a diagnosis so I can be treated. I have a bad feeling this will only become worse as I start doing more activity.

Thank you for taking the time to read this.

Jump to this post

I would look at 2 areas!
Ehlers Danlos Syndrome EDSh
and Mast cell Activation MCAS
Check out the symptoms of each and see if you have a match. You have many markers!
I have both and there is a lot of help on line!!!

REPLY
Ruthie | @bluecow | Jan 17, 2023
In reply to @lexaprobiotic "I have had several symptoms that are all consistent with an Autoimmune Disease, but no doctor..." + (show)
@lexaprobiotic

I have had several symptoms that are all consistent with an Autoimmune Disease, but no doctor will ever give me a diagnosis or do further testing to determine one. I have been to emergency care, undergone several tests for indicators, and seen several specialists, but for some reason they are all clueless despite their proficiency in medicine.

I have bad joint pain, sudden bouts of severe itchiness, occasional numbing in my left arm (which isn't common but not unheard of), severe fatigue, swelling in my joints (specifically in my fingers), and the swelling of my lymph nodes. I know this is immune related because taking an antihistamine like Benadryl normally clears it up for a short time. My symptoms started almost immediately after I got COVID for the first time a couple months ago. The most likely causes are Lyme Disease, Rheumatoid Arthritis, Lupus, Sarcoidosis, or another autoimmune disease. (I say Lyme Disease because I was bit by a tick a few weeks later but my symptoms were pre-existing that.)

I feel like this is important, but no one is taking me seriously. I go in, get tests done, my results are fine, and they send me home saying not to worry about it. I am told I don't have any of the usual markers or indicators, and that I'm young and healthy, but how can I not worry when my knees buckle with random joint pain, or I'm trying not to sleep the day away because I'm so tired and can't get out of bed?

I don't know what to do right now honestly. If anyone with similar or the same symptoms could give input on their own diagnoses that would be great. I could really use some advice or ideas on how to get a diagnosis so I can be treated. I have a bad feeling this will only become worse as I start doing more activity.

Thank you for taking the time to read this.

Jump to this post

Sounds like MCAD (mast cell activation syndrome), watch Dr. Anne Maitland on youtube, or Dr. Afrin. Hard to find immunologist who gets it--I'm having to travel to Mayo Phoenix as there is neurologist who treats Sjogren's, POTS, and knows what MCAD is (trifecta, common together). The "cheapest" management for some is compounded med Ketotifen, which didn't work for me though. Have doctor draw blood work for your general immunity--IgE, IgM and IgG. There is 24-hour urine test for MCAD developed at Mayo.

Best of luck and don't give up looking for doctor! I've been to over 30 in 12 years, no choice but to be persistent and advocate for yourself.

REPLY
Kathy | @feb | Jan 21, 2023
In reply to @moylandavis "Have you ever looked into Mast Cell Activation. Here is a guide to review...the symptoms can..." + (show)
@moylandavis

Have you ever looked into Mast Cell Activation. Here is a guide to review...the symptoms can be all over the map and mast cell issues can look very different from person to person. If you think this might be a clue, I would ask your doctors to run some of the recommended tests...it is critical that you review and follow the procedures for each test (24 hour urine must be handled very carefully by you and the Lab to get accurate results, you gotta dog the Lab to make sure they do it right!).

I have autoimmune issues and after a bad infection 7 years ago (CDiff) my Mast Cells started misbehaving. It took me a few years to figure out and learn about Mast Cell Activation...I have now had all the recommended tests (except bone marrow biopsy) and they found a high level of mast cells in my gi tract. Now I am on alot of the recommended Mast Cell Stabilizers and a low carb/low histamine diet and am doing great...no more joint pain, no heavy drugs or steroids!!
This link will take you to the guide https://www.ehlers-danlos.com/wp-content/uploads/MCAS-Primer-for-the-Gastroenterologist.pdf

or google "primer for mast cell activation syndrome" and select the one on the Ehlers-Danlos website, where you can read the guide for free...

Good Luck
BTW, if it is a Mast Cell Disorder, Mayo has a reputation of not treating MCAS and only Mastocytosis

Jump to this post

The article to click on states cannot be found.

REPLY
1 reply
Mentor
John, Volunteer Mentor | @johnbishop | Jan 21, 2023
In reply to @feb "The article to click on states cannot be found." + (show)
@feb

The article to click on states cannot be found.

Jump to this post

Kathy @feb, Here's a link to the document:

Mast Cell Activation Syndrome: A Primer for the Gastroenterologist
https://pubmed.ncbi.nlm.nih.gov/32328892/

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dontknowitall53 | @dontknowitall53 | Jan 22, 2023

Kathy..I know all about the pain and helplessness..finally been put on actemra which seems to work for me. I have auto immune disorder and results in Rheumatoid arthritis..

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TSB | @terrirussell | Jan 22, 2023

OXalate reactions?…….have you looked at this……it’s quite harming and pretty much floored me for an entire year until I figured it out…….there is information on the net , one of the best books on it is Toxic Superfoods, by Norton……to self correct I spent months on the Carnivore Diet and I would sure check that out as well. Best to you!!

REPLY
annewoodmayo | @annewoodmayo | Jan 22, 2023

HI Katie,
Wow, your case is similar to mine in many ways. Very, very frustrating. First diagnosis was "probably lupus" with positive ANA. (Please pardon my spelling! I think I've got them spelled close enough to be recognized) New Rheumatologist said spondyloarthropathy, undifferentiated. Then later ankylosing spondylitis. Started with plaquenil, like you. Went through the pills (sulfazalazine, lefleunimide, methotrexate). Went through the shots and infusions (Humira, remicade, cosenstex, embril, etc). Last summer, my insurance refused to pay for simponi aria at the frequency I needed b/c that was not FDA approved.

My doctor got me onto Tremfya and it's working really well. My first dose was in October, 2022. Tremfya is one of the ILs. I hope you can try it!

December of 2021, the doc added azathioprine, an organ transplant med, to my TNFI. It has helped.

Around 2017/18, the doc prescribed duloxetine, which is helpful with pain.

Back in 2014 when I was on plaquenil, I had to go to the eye doctor for field of vision checks. I had be seeing this eye doctor for years before the plaquenil started. I was pretty anxious about an accurate diagnosis and I asked him about it. He said that since 1)the autoimmune diseases were so complex and 2) so little understood by science and 3) that the treatments overlapped and that 4) my symptoms didn't fit neatly into any of the existing categories of disease-- that getting an accurate diagnosis was not really necessary, and that I should be sure to get treatment for one of them because it would help whatever it is I have. I was surprised, afterwards at times relieved, at times angry, at times very frustrated.

When I get frustrated about the issues surrounding my diagnosis, I try hard not to fret by focusing on what the eye doctor told me. I see a mental health therapist. She reminded me of the Serenity Prayer. The diagnosis (or lack of a specific, accurate one!) is probably out of our control right now. The doctors don't know enough. BUT, I am really grateful to my rheumatologist for her efforts to help me. I'm pretty sure that she gets really frustrated sometimes too. It takes up a lot of my limited energy to fret about the diagnosis. I am getting treatment so I try to use my energy for other things that may make me happy. Please notice I used the word "try." After 10 years, I'm still working on it!

I started water physical therapy in July of 2022. It has been amazingly helpful.

Please let me know if my reply helped at all. It was a "wow" moment when I read yours! I didn't think there was anyone else in the world with similar symptoms and test results!
Take care!

REPLY
annewoodmayo | @annewoodmayo | Jan 22, 2023

Hi again
Have your doctors mentioned virus/infection-induced Lupus? Since your disease started after strep and your ana are homogeneous. Maybe they ruled it out already, though. Check out the Mayo Clinic information on Lupus?
Good luck!

REPLY
missypurtee | @missypurtee | Feb 1, 2023

My poor son is suffering from one also and we have no clue which one! Ugh

REPLY
freebird195 | @freebird195 | May 4, 2023
In reply to @lexaprobiotic "I have had several symptoms that are all consistent with an Autoimmune Disease, but no doctor..." + (show)
@lexaprobiotic

I have had several symptoms that are all consistent with an Autoimmune Disease, but no doctor will ever give me a diagnosis or do further testing to determine one. I have been to emergency care, undergone several tests for indicators, and seen several specialists, but for some reason they are all clueless despite their proficiency in medicine.

I have bad joint pain, sudden bouts of severe itchiness, occasional numbing in my left arm (which isn't common but not unheard of), severe fatigue, swelling in my joints (specifically in my fingers), and the swelling of my lymph nodes. I know this is immune related because taking an antihistamine like Benadryl normally clears it up for a short time. My symptoms started almost immediately after I got COVID for the first time a couple months ago. The most likely causes are Lyme Disease, Rheumatoid Arthritis, Lupus, Sarcoidosis, or another autoimmune disease. (I say Lyme Disease because I was bit by a tick a few weeks later but my symptoms were pre-existing that.)

I feel like this is important, but no one is taking me seriously. I go in, get tests done, my results are fine, and they send me home saying not to worry about it. I am told I don't have any of the usual markers or indicators, and that I'm young and healthy, but how can I not worry when my knees buckle with random joint pain, or I'm trying not to sleep the day away because I'm so tired and can't get out of bed?

I don't know what to do right now honestly. If anyone with similar or the same symptoms could give input on their own diagnoses that would be great. I could really use some advice or ideas on how to get a diagnosis so I can be treated. I have a bad feeling this will only become worse as I start doing more activity.

Thank you for taking the time to read this.

Jump to this post

I had a mild case of OA in both thumb joints. Then, I turned my ankle ever so slightly, that I kept on going. When I sat down that night I saw my ankle was very swollen. I did the ice, heat ***etc. I went to my doctor (oops 1 of his PA's that are crazier than batshit. She felt around with her fingers and said I had a sprain or a strain. And, continue what I was doing. No relief. I saw 5 different doctors in 1 year. I couldn't even think of going to the grocery store, especially Costco. I finally read about a local doctor who does ankle replacements. I knew I didn't need that, bit I figured he knew feet really well. I went to him and he ordered an MRI, he was the 1st doctor out of 5 that ordered an MRI. I had the MRI and the radiologist wrote the wrong report. Dr. Clancy, looked at the MRI's himself and saw that 1 tendon going down from my ankle was torn (there are 3) and my foot was totally unstable. He did arthroscopic surgery to reattach the tendon and cleaned out some debris, that I assume were by products of cartilage. The weird thing is that I got severe arthritis pain in BOTH feet, which I never had before. Then, I got arthritis in both feet. When I mentioned it to him, he said it's bilateral. If you have it in 1 foot, you'll get in the other. The operation on a joint can do that. He gave me cortisone shots in both feet and luckily I got home before that kicked in, bc I couldn't put any weight on my feet bc the crystals were too big to go into where ever they were supposed to go. The next morning I was pain free.
I was not vaccinated for C19. My son & his wife got 2 shots of PFIZER in April 2020. I was sheltering in a beautiful place with my 2 dogs and I caught C19 from my son (who has no children and probably never will) who had the 1st break through case I've heard of. My case was very mild, bc I had a phone consultation with Dr. Zev Zelanko and he told me that I should take the HCQ + Z pack +zinc, vitamins C & D3, then Quercentin bc the Jab would make my arthritis worse. The medicine was at my local pharmacy the next morning. But, slowly my arthritis is worse than ever. Dr. Z died of the rarest form of cancer-tumors in his heart.
Any input would be greatly appreciated.

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