Undiagnosed Autoimmune Disorder - my mom

Posted by dgterofauto @dgterofauto, Oct 24, 2017

My mother has been diagnosed with Behcet’s about 6-7 years ago, with medications prescribed to her, some of them Methotrexate, Prednisone, and recently Remicade infusions. Recently, she began having spiked fever every day (102’s and 103’s). Concerned, she was admitted to a local hospital, with extensive testing. Testing included liver biopsy, CT abdomen, body scan, MRI of brain, lumbar puncture, echo cardiogram, EGD, colonoscopy, repetitive antibiotics, daily lab work, including testing for ebstein barr and lyme disease. Reports show that she has an elevated ANA, and they also sent her labs to a different state for a specialized autoimmune testing, in which we haven’t received results. All tests in hospital were negative for any infections, and just show her elevations in regards to her autoimmune disorder. The physicians also evaluated specifically her previous wreck which left a fractured lumbar and broken tooth, along with a cervical surgery she had 20 years ago, just to rule out infection that never healed. The rheumatologist that saw her in hospital brings up the concern that she was misdiagnosed with Behcet’s and feels the Remicade infusion may have caused some unnecessary additional autoimmune disease, on top of the primary one. Which leaves her with an undiagnosis currently. She was finally diagnosed with “Fever of Unknown Origin”, and released from the hospital after 22 days of admission and daily testing, with directions to take doxycycline po, ibuprofen/tylenol interchangeably with increase in fluids and follow up appointments with internal medicine, rheumatologist, and hepatologist. Within the last 3 days of non-hospitalization, she has spiked fevers in the 102’s daily, with tylenol/ibuprofen around the clock. She battles fatigue, fever, weight loss (30 ish lbs), nausea, vomiting, weakness, migraines, total body pain. My father is setting up her with a holistic physician as a last ditch effort for some relief. Yet, as a emergency nurse, I know the symptoms she has warrants an emergency visit, yet she was released with all necessary testing negative, with the exception of elevated labs in regards to her autoimmune disorder. Although “fever of unknown origin” may be a true diagnosis, I feel like there is possibly something that we are missing. Can anyone recommend what steps/testing/physician/clinic we should consider next? Any traveling needed is absolutely an option, as we will travel worldwide to figure this out for her to live a normalized life.

@dgterofauto I am not going to say I know the answer to your problems, but I know what has helped me. After almost 80 years of struggle, I finally found a company, Ambrygen.com. By limiting the search scope, They eventually found that I had a couple AI diseases which caused many of my problems, RyR2 and FKTN. RyR2 is cardiac wall dystrophy, and FKTN is a form of Limb Girdle Muscular Dystrophy. Then, by searching OMIM (Johns Hopkins) after where these led, I was led to Gelsolin, a form of amyloidosis. I say it this way because I learned to pick up on patterns pointed out by these. I already knew I had heart trouble, so the RyR2 was not much of a surprise. The FKTN was not surprising because I have a sister and niece with Limb Girdle Muscular Dystrophy. Now as I go after Gelsolin, it is because I have a large set of 200 symptoms and signs of Gelsolin -also known as Finnish or Meretoja's (systemic, hereditary, non-TTR, protein mis-folding ) which I have tracked now for 80 years. Anyway, I am trying to encourage you to do your own detective work. It may not get you the answers you need, but it will surely help.


Update: we finally have a diagnosis, labeled Adults Still Disease. She is on day #4 of Anakinra injections with 4 days of afebrile, increase appetite, and most importantly- a smile. We ruled out giant cell arteritis/temporal arteritis by biopsy and also have a negative bone marrow biopsy. Still Disease has only been seen in 1 of 1.8 million people and is extremely rare.

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This is a couple years later, hope your Mom is doing better. I have MCTD, another rare disease that is diagnosed with lab work. Important to keep nutrition high, to support meds. AIP, Terry Wahls Protocol both have useful info. PT to strengthen muscles is important to keep mobility. This is another disease that doesn't have much info as far as complementary regimens, but 24 years in, find that exercise and diet matter for generalized pain, like fibromyalgia brings.


So sorry to hear about your Mom's health issues. I am caring for my 42 y.o. sister-in-law who was diagnosed with Adult Onset Still's Disease (AOSD) about a year ago. She spikes fevers and has full body pain (arthritic inflammatory pain) all over as well, however Kineret (anakinra) daily injections + prednisone provided some relief until a few weeks ago when she had severe itching episodes that caused her to cry and not sleep! We now know that she is allergic to Kineret and her rheumatologist has switched her to Ilaris, a 30 day injection, which she started Friday, May 29. Fevers have been managed with Kineret and prednisone, and so far also with Ilaris and prednisone (60 mg/day for now). The severe itching begin to present as her Prednisone doses were reduced every 2 wks since Jan 2020. She was most recently at 7.5mg of Prednisone, but again it's been increased now until the doctor feels comfortable with her progress on Ilaris (https://ilaris.com/index.jsp). Hope this is helpful.

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