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dgterofauto
@dgterofauto

Posts: 5
Joined: Oct 25, 2017

Undiagnosed Autoimmune Disorder - my mom

Posted by @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.

REPLY

Hello @dgterofauto, welcome to Connect. I’m sorry to hear your Mother is having a difficult time getting a diagnosis. Thank you for being such a good advocate for her. I’m sure it has not been easy for you either. Connect is a good place to share your Mother’s health concerns and learn what other Connect members with similar health concerns are doing for treatments. There is currently another discussion for undiagnosed autoimmune diseases that may be helpful to read through here: https://connect.mayoclinic.org/discussion/undiagnosed-auto-immune-disease/bookmark/?ajax_hook=action&_wpnonce=8933e3d2d7.

Also, I would like to invite other Connect members who have posted about undiagnosed autoimmune diseases to see if they have any suggestions. @lisabeans, @cmtg, @pinkmk, @aman_23_23, @mommaj, @tljam, @whitechinacat, @palscoreen, @terryblink, @pinkstar, @rebo, @v1crew, @jewel8888, @tbeckys, @WendyAnne, @559purplepatty, @atorset, @beff2468, @taterjoy do you have any suggestions you can offer @dgterofauto ?

I’m not sure if it is an option for you but if it is, the Mayo Clinic is very good at diagnosing health issues that are difficult to diagnose. If you would like to seek help from Mayo Clinic, you can contact one of their appointment offices. The contact information for Minnesota, Arizona and Florida can be found here:

Mayo Clinic Contact Information: http://mayocl.in/1mtmR63.
Mayo Clinic Tours – YouTube Videos: http://bit.ly/2o3jvMj

I thought this video maybe helpful to let you know you are not alone

What happens when you have a disease doctors can’t diagnose TED talk by TED Fellow Jennifer Brea who became progressively ill with myalgic encephalomyelitis, commonly known as chronic fatigue syndrome.

https://www.ted.com/talks/jen_brea_what_happens_when_you_have_a_disease_doctors_can_t_diagnose

John

Dear @dgterofauto: I am so sorry for the pain your Mom is suffering and for the prolonged frustration of her and your family, to find a diagnosis and comprehensive treatment for her complications. She is fortunate to have an emergency nurse as part of her family, to advocate for her.

Remicade can cause her ANA to elevate, and it has been associated in clinical trials with specific infections. Has an experienced Infectious disease specialist tested for unusual/rare infections, not just those associated with Remicade? I would certainly wish to consult at a Comprehensive treatment center, with specialists in each of the “areas” affected especially since there is now controversy surroundingher diagnosis of Behcets disease.

It is possible that dehydration–or her lumbar puncture (which can cause “low-pressure” headaches)–might be contributing to her headache pain. It is hard to eat or keep good nutrition “down” and heal, when headache pain and nausea prevail. I know from personal experience. If your Mom is having migraines or other types of headache, a headache specialist may recommend treatments more effective than Tylenol/ibuprofen, and less likely to cause “rebound” headache. Her condition and outlook might be improved by more targeted migraine therapies such as triptans, possibly (if needed) in concert with additional meds to reduce her nausea. I have greatly benefited from ondansetron rapid melts; anti-nausea cancer/chemo patch such as Sancuso; and ginger “chews”. I’m not sure I am allowed on this site to specify the Brand/source of the ginger chews that work best for me, but if you need the info, send me a private message. There are also a host of preventative treatments that a headache specialist could cautiously consider, given her complicated situation. If her headaches are continual, it is important to break the cycle particularly if they are true migraines.

I am not promoting one Medical Center over another, but will share that my Mom visited Mayo (Rochester) in the late 1970’s after suffering years from a disorder which did not yet appear in the Diagnostic Manual for Physicians. Her disorder WAS recognized clinically (and treated) at Mayo. Her disorder was named “Fibromyalgia” in the late 70’s, but diagnostic criteria were not developed by a National Rheumatology organization and communicated widely to community physicians until 1990. Fortunately, my Mom began treatment/healing in the 1970’s, and is still alive and well today (86 y/o). Her Mayo Team worked with her local physicians to educate them on the disease, treatment and follow-up. I will pray for answers and healing for your Mom.

Thank you John.

I’d like to add my welcome, @dgterofauto, and thank you so much for reaching out to the Connect community and sharing your mother’s story. I can imagine how worried and frustrated you must feel. I found several studies and abstracts with some more details about Fever of unknown origin (FUO), which you may wish to view:
https://www.ncbi.nlm.nih.gov/pubmed/23977936
https://www.ncbi.nlm.nih.gov/pubmed/24295559
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104815/

You mentioned that your mother may have been misdiagnosed, but nonetheless I’d encourage you to view this recent discussion about Behcet’s on Connect: https://connect.mayoclinic.org/discussion/bechets/
I would also like to invite @onmylastnerve, (who does mention that Remicade “treatments can sometimes be worse than the disease”), and @mrmaid11 to join this discussion with their insights.

Since FUO is also known as Pyrexia of unknown origin (PUO), after digging a little more into Connect discussions, I found a mention of PUO in this post by our late Mentor, Katherine. Here’s a link to the post: https://connect.mayoclinic.org/discussion/newcomers-one-explanation-i-found-on-macmai-to-help-you/

@dgterofauto, how are you coping? Do you have any help with managing your mother’s condition?

Sounds like a very familiar story, as far as nothing showing up despite numerous tests being done. (although I am not sure what ANA stands for) this exact or very similar circumstance has been repeated in my situation several times. Often it just ended by being referred to yet another neurologist, who’s (despite a vast variety of different symptoms including fever, headache, feeling that your skin is falling off, etc. etc. etc.) first and only question was to do with dealing with “The Headache”. Which was never close to being cured although repetitively often only being the thing that was even attempted to be treated.
The tests that you have listed seem to never show a result, and one time a doctor actually said well technically it does not seem you are sick during one visit. (Although of course he was making a point) it was obvious that the patient was sick but nothing showed up in any test that was performed.
Another famous conversation was when we asked why it is impossible to get the full medical records printed off for patients, and the reply was well in this case you would need a truck to carry it all.
Although I realize that this information is not directly helpful to you, my point is there must be some tests that is being overlooked in this case, if not overlooked then perhaps a test that is not approved it would seem perhaps in North America( as the case that I am referring to is in Canada ) at least, but would be approved in a different jurisdiction that would yield some type a better result.
Another unfortunate part is, that even 15 or more years down the road there are still occasional arguments/Disagreements between doctors over the actual diagnosis of Behcets Syndrome.

@kanaazpereira

Thank you John.

I’d like to add my welcome, @dgterofauto, and thank you so much for reaching out to the Connect community and sharing your mother’s story. I can imagine how worried and frustrated you must feel. I found several studies and abstracts with some more details about Fever of unknown origin (FUO), which you may wish to view:
https://www.ncbi.nlm.nih.gov/pubmed/23977936
https://www.ncbi.nlm.nih.gov/pubmed/24295559
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5104815/

You mentioned that your mother may have been misdiagnosed, but nonetheless I’d encourage you to view this recent discussion about Behcet’s on Connect: https://connect.mayoclinic.org/discussion/bechets/
I would also like to invite @onmylastnerve, (who does mention that Remicade “treatments can sometimes be worse than the disease”), and @mrmaid11 to join this discussion with their insights.

Since FUO is also known as Pyrexia of unknown origin (PUO), after digging a little more into Connect discussions, I found a mention of PUO in this post by our late Mentor, Katherine. Here’s a link to the post: https://connect.mayoclinic.org/discussion/newcomers-one-explanation-i-found-on-macmai-to-help-you/

@dgterofauto, how are you coping? Do you have any help with managing your mother’s condition?

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Thank you for asking. I am doing well.

Thank you for everyone’s input on finding some information. Upon reading most of the autoimmune diets, it seems it’s very specialized- yet when my mom is only eating 3 green beans and a couple bites of soup a day, it’s hard to get any type of nutrition.
The last few days have been difficult for her. She has continued to spike fever, 102’s mostly. She is continuing to loose weight and become weaker, with now needing some assistance to walk. She visited the School of Chinese Medicine in Houston yesterday where acupuncture was performed. He seems to think she has some type of infection from The Harvey storm flooding.
Today she continued to spike fevers. With not knowing what else to do and desperate for answers, we have a private jet scheduled for tomorrow morning to fly us to Arizona to arrive at the Mayo Clinic ER. Myself and another ER nurse will ride with her and have ambulance pick her up at airport. I am desperately hoping we find some answers.
I will keep all updated on what they explore.

Best wishes of results to you and your family

I hope you find out what the problem is and your mother is treated for it. Warm regards, Gail B

Amazing how quickly you put the trip together dgterofauto. Wishing you safe travels, an exceptional team to assist you in speedy diagnosis and treatment. I hope your Mom will regain strength soon, and can fully recover.

@dgterofauto That is a rough one. But a couple questions. What was her reading on the sFLC (Bindings/Mayo) assay? If it has not been done, insist on it now. Medicare pays. Any reading above 1.6 mb/dL will point the way to a mis-folded protein issue, and that can bring all those symptoms. Also, is there any protein in her urine? Any foam in the toilet after urination? Any urinary protein over 0.3 mg/24hr is enough to point at mis-folded protein issues. Again, Medicare pays. Any black or purple spots on her skin, especially on toes or eyelids? Her unintentional weight loss is another sign. Mayo, Mass Gen, Sloan Kettering, Stanford, U of Utah are some of the best at diagnosing in this matter. If you want more, check my own record and story at https://bit.Ly/1w7j4j8 for Amyloidosis pdf version 1000.

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.

AMAZING report, so glad to hear your Mom has turned the corner and even smiled. I’ve never heard of Adult Still Disease but will certainly look it up. I wonder if proximity to the flood waters from Harvey played a role in her illness, and if so, others proximal to Harvey might also be at risk. I pray that she continues to respond well to the Anakinra injections, and that her prognosis is excellent. She is SO lucky to have a daughter who set aside her own obligations to rapidly travel to Mayo Arizona to save her life, and a devoted husband who helped in the process of finding help and relief..

Like any autoimmune, it doesn’t have a specific marker to determine positively that this is the actual disease she has, but gradually with constant “normal” test results and narrowing from symptoms, they are concluding stills and so far the medication they are starting has completely turned a new leaf for her.

@dgterofauto

Like any autoimmune, it doesn’t have a specific marker to determine positively that this is the actual disease she has, but gradually with constant “normal” test results and narrowing from symptoms, they are concluding stills and so far the medication they are starting has completely turned a new leaf for her.

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@dgterofauto that is really great news!

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