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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I’m so sorry you’re suffering so much. I was diagnosed with Hashimoto’s/Hypothyroidism in 2023 and have eliminated many foods that I have sensitivities to and it has helped with inflammation tremendously! Look into having that blood test done to find out what your sensitivities are. I wish you good luck!

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DNA genetic testing by lab that specializes in doing this for disease IDENTIFICATION

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Your symptoms and labs are certainly consistent with an autoimmune disease. Inflammatory markers and an ANA that high would suggest possible lupus, especially with the kidney involved. You do not have to have positive antiDSdna for a lupus diagnosis. I would not focus on the HLA B27 unless it is your SI joints and low back that bother you most. I would ask to have muscle enzymes measured in blood since you have significant muscle pain and weakness. Myositis (muscle inflammation) can
accompany lupus. These are CK, aldolase, AST , ALT , LDH.
A blood test for sarcoidosis might be helpful since your ankles bother you so much.
If you ever get rashes have them biopsied with immune fluorescent studies. That’s one way to get a diagnosis. I wish you better luck in finding a doctor that will get to the bottom of your illness.

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