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!

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

all you can do is keep trying, I had gallstones for 10 years, before doctors in another state found it by accident (I hurt my back, so they did a full spinal) docs said it was indigestion /all in my mind, (I would like to know how they talked to each other before computers were invented). One doc even told me to find something better to do .

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Since your vit D is so low with pills, the only and best solution is lots of sunshine. (Hope you do not live in a northern climate like me.) If nothing else works maybe even a little bit of improvement can help. Also, check your iodine levels and supplement if low.

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Hla b27 positive is hereditary. So you must have inherited it from one of your parents. Do either one of them have any similar arthritic problems, ibs, Crohn's disease, and or have they been tested for HLA b27? Be aware that there's a 50% chance that your children will be too. It runs in my family also. Myself. ( Battling Breast cancer) And Two of t my three of my children ( my son 35 years old battling acute lymphoblastic leukemia Philadelphia chromosome positive.. My daughter 41 ) are positive, and symptomatic. Unfortunately Hla b27 positive also makes you more prone to cancer. Have you ever had any previous joint problems? Scoliosis, cracking and creaking joints, cancer, hypersensitivity (allergies?) Have you had any imaging mri with and without contrast, CAT scan, ultrasounds, fluid biopsies from your affected joints? That are pointing your rheumatologist towards his diagnosis? I was told that I cannot receive any type of biologics until they pinpoint exactly what kind of autoimmune disorder myself and my children have. We all have severe spinal stenosis, scoliosis. And are highly prone to infections, bruise easily, and extreme fatigue just to mention a few. Lol so far my personal diagnosis is levoscoliosis, severe cervical and lumbar spinal and forminal stenosis. Sacrillitus ,severe tendonitis, Dyputren's contracture , osteoporosis, inflammatory polyarthropathy, fibromyalgia, vitamin D. Deficiency, unspecified leukopenia , diverticulosis,uveitis, narrow angle glaucoma, sclerotic cataracts, senile cataracts. My Joint discomfort started in my spine when I was around 12, 13 years old. (My children also presented around the same age )And has spread and become increasingly worse and complicated with all of the other diagnoses since then with most of the non skeletal presenting within the last 5 to 6 years My doctors attribute some of my issues to my cancer radiation therapy treatments and side effects from the medications. Most but not all of my blood work has come back negative My ESR, bun creatine ratio, CRP, ANA and TSH, t4, t3 severely fluctuate .I am 59 and still undiagnosed. So I can completely empathize with your situation. I'm just confused as to why you're receiving biologics medication without a definitive diagnosis?

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I'm so sorry to see all you are going through. While I have not experienced what you are experiencing. I did go through 6 years of gut issues - GERD (acid reflux), foods not being digested well, feeling fatigued. Each time I was put on the PPI, I felt great, but once I went off the PPI, my symptoms returned. After my third endoscopy
( scoping the GI tract), the doctor who performed the endoscopy told me to never take that med again because my cells were hypertrophic (meaning very enlarged) - the med is a PPI (proton pump inhibitor) which essentially reduces the acid in the stomach for digestion. Previously, I was also trying other over the counter remedies to no avail.
I was then left to figure this out since my doctor didn't know what to do if I could no longer take a PPI. I became familiar with Functional Medicine which saved me. If you are not familiar with Functional Medicine, it is looking at the root causes of your symptoms/illness, not treating symptoms. My FM doc tested me for so many things my other doctors did not test for - bacterial infections, yeast infections, fungal infections, parasite infection and mold exposure. I tested positive for ALL of those because my GI tract had become permeable - meaning it leaked these infections into my system.
If you are interested in finding one in your area, here is the website - ifm.org. You can search for doctor by city and state and read their bios and what they actually treat. It took me 2 tries to find the one that was knowledgeable with GI issues. I highly recommend functional medicine as again, they look for the CAUSES of your symptoms, NOT the SYMPTOMS. Treating the symptoms is a band aid but the infection needs more than a band aid to CURE you.
I wish you the best!

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Profile picture for beavermeadow82 @beavermeadow82

You have had a lot of tests! After two yrs my docs are not sure which auto immune disease I have. I have. Done 5 months of infusion with OCTAGAM. No help. I. Can no no longer walk, my sleep is poor. I’m on prednisone but problems have started there. I am now seeing a Neurologist I’m sure he will lower my dose. I have been advised to go to a University that does research into my problem. We have a Mayo clinic in JAX but it is a horrible drive. I have been to Uof Florida. Any ideas from anyone? Bev

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@beavermeadow82 My second suggestion is that you check out Mayo’s system of hospitals.
https://www.mayoclinic.org/about-mayo-clinic/care-network/network-members
These hospitals and care centers are all around the U,S. You can probably find one a short distance from you. You could also ask if they know of a Mayo-trained doctor in Xcity.
Let me know how it all works out for you!

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Has anyone ever brought up Polymyalgia Rheumatica? Your high inflammatory enzymes might be a clue. The only med is high dose Prednisone till inflammation decreases . I had similar symptoms and 20 mg Prednisone got me out of a wheelchair. Doctors like to say it's a old person disease but more and more younger people are getting it. There's an international support group for PMR on FB.

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