AutoImmune - Essentially Undiagnosed but Miserable

Posted by katies0lvi3 @katies0lvi3, Jun 11 8:05pm

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 group.

OMG don’t know what to say. I’ve got lot of similar stuff going on also no answers. But I’m 80 and have stopped caring for the most part. Go to Mayo only in Minnesota.

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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

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@katies0lvi3 I’m so sorry you’re having such a difficult time getting a diagnosis. Autoimmune diseases are notoriously known for being a real problem to diagnose. When i got my AD diagnosis, none of the doctors even knew what they were seeing on the MRI and certainly didn’t know how to treat it. My husband took me to the university hospital where I finally got some help.
I’m so glad to see that other members @moylandavis , @nuss95816 ,and @marilynredder2367 have responded to your post.
Have you been to a large medical center or university teaching hospital?

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Just curious, do you have breast implants, either from mastectomy or cosmetic?

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My problems began in JrHigh after Three Day Measles. Years of ups and downs finally turned into full blown train wreck after an appendectomy. With my numbers it was an easy diagnosis that leaned towards the scleroderma side. My brother has been diagnosed with UCTD. The lucky guy has very few symptoms! Family history of autoimmune diseases. 💜🦋

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@katies0lvi3, I can understand your reaching out to an online community as you search for a diagnosis. Autoimmuned diseases are notoriously challenging to diagnose and many members here can share their long and ofen times frustrating journies in search of answers.

You may appreciate this discussion that @becsbuddy started to help members share their tips of working with their care teams to get a diagnosis
– Tips for Getting a Proper Diagnosis of an Autoimmune Disease https://connect.mayoclinic.org/discussion/tips-for-getting-a-proper-diagnosis-of-an-autoimmune-disease/

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Gosh, this all sounds so familiar, and the answers should be so easy. However, we live in an age when the easiest answers are usually wrong. However, I would make a couple suggestions. First, You can make great use of a Whole Genome Sequencing, whether covered by insurance or self-paid. There are several great sources, such as Nebula Genetics, Sequencing.com, GeneDX, Ambry, Alnylam, Mayo, etc. Some of the company names change frequently, so start with a good Genetics Counselor. But a whole duck-pond of scam artists will try to scam you for a lot of money if the lab does not follow the rules of Medicare. This will probably not pin-point your disorders entirely, but will give you some great clues. Second, You sound like a form of cancer called Myeloma. There are many types, and almost no one has just one. Me? I have a family with groups of cancer disorders. I have pinned down a large group, so I would not say you have this and not this. I do say, though, that you will almost surely end up with one or more forms of Myeloma, such as Amyloidosis, Gelsolin, as well as some neuro-muscular diseases such as muscular dystrophy. I am not well-versed on environmental issues. The point is easy. Get your Whole Genome, study it thoroughly, It should tell you if you are particularly sensitive to some meds, some bacteria, infections, and some other stuff in your life. Spend some time studying the results. Do not give up easily. oldkarl

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I’ve had RA symptoms since 2006 that were misdiagnosed as chronic lymes disease in 2007. I was diagnosed with sero positive RA in January 2022. In retrospect, I’ve been going in/out of remission for several decades. As a young child I had scarlet fever and tonsillitis then recurring strep throat and tonsillitis with a lot of antibiotics treatment until I had tonsils removed at 21 years old. Information about autoimmune and connection to gut health, taking antibiotics destroys the good gut bacteria. Most people with autoimmune have lower diversity of good gut bacteria. I began following whole food plant based diet two months ago. About a month ago also eliminated oils/fats. Within 3 days my digestive issues settled down and pain got so much better. Recently I started a kitchen renovation and wasn’t able to have green smoothies and juiced veggies. The pain returned and is getting worse. My kitchen is still out of commission but I’m trying to use my juicer setup in another location. It is helping slightly. Look into food sensitivities that don’t show up as allergens. If you have any digestive issues try an elimination diet to identify which foods are bothering you, if any.

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There are helpful rules to establish a safe diet. It may take a long time to complete, but finding your safe foods to eat list and adhering to that list is the only way you can have a chance to manage your reactions. Haven’t checked lately, but there should be safe diet info on the net!

I found a couple of rules that help are:
Avoid prepared foods as their ingredients info are often not complete or available.
Do your own cooking and don’t rely on someone else.
Stop eating at restaurants.
Stick to minimum cooking with no sauces or herbs.
Once you are safe but want to try a new food, initially try a small amount minimally cooked – then wait 2 to 3 days before a second try. If you react on the second try, then that food is not safe. If you do not react on the second try, wait several weeks before you try again, if no reaction, then add that food to you safe list.

Finally, if your efforts at finding a safe diet seem to be endless, go gluten free. So called silent Celiac Disease suffers often don’t have classic CD symptoms as there are as many as 200+ symptoms related to CD. And to be certain stay gluten free for 6 months. If to do so dramatically reduces your reactivity, then explore the increasingly expanding CD info at various CD organization websites. Or, if you have a Celiac Center in your area reach out to them to help you determine your best way to manage your symptomologies!

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Follow up: The key to managing hyper-reactivity is to use a simple classification process!
1. Known safe food/meds/chems
2. Possible safe food/meds/chems
2. Unsafe

Collect all the Safe f/m/c and manage your life staying within that group – until you have at least 6 months of consistently reduced same reactions. If not consistent, re-examine each Safe item to look for any change in reaction. If not the items in the group are Safe – which means something out side of the F/M/C group is causing the reaction. Once eliminate any suspected material the mentioned consist low reactivity returns for 30-60 days, you can begin to introduce new possibly safe F/M/C items – following the protocol list previously.

Hint: On Meds – if you have an understanding Compouding Pharmacist in your area, work with them so they understand your situation and where possible have them compound your meds active ingredient without the use of any inert ingredients. Also, they can keep you informed about any known meds side effects alone or with other ingredients.

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@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

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Thank you! Actually the a functional medicine practitioner just gave me info on Mast Cell Activation so I’ve been going over it. She does a clinical survery and my score was close to 100%, she said the lab testing is hard to do/insurance/expensive. I don’t know if she plans to do labs for it, but I did food sensitivities testing and will start eliminating those now along with limiting high histamine foods.

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