1. < Autoimmune Diseases

Undiagnosed and frustrated: RA? Lupus?

Posted by emmie @emmie, Feb 2, 2016

Hi. I'm new to the forum and want to share my "journey" through the world of AI disease! I was referred by my ortho surgeon to a rheumatologist after blood work revealed an elevated CRP and Sed rate. I had several foot surgeries involving "melted tendons" (my surgeons words). He always found inordinate amounts of inflammation during the 5 surgeries he had performed. He sent me for tests following the second surgery but RF and Sed were normal. Several years and three surgeries later he re-tested because I had developed debilitating fatigue, nodules on my fingers, along with extreme joint pain in my hands and wrists. He put me on a round of steroids and had my appt expedited.

Of course the steroids calmed down the symptoms but the rheumy did find warmth and swelling in fingers, wrists, knees, elbows, and ankles. He felt sure my inflammation markers would be through the roof. Thus it began...sigh. All tests were NORMAL He repeated them in a month with the same result. After the third month with clinical findings (still normal test results) he started me on Plaquenil. It slowly calmed down the joint pain over a few months. All tests still normal. About 6 months into treatment I developed photosensitive rashes, and chronic mouth ulcers. The fatigue continued and the swollen, inflamed joints were present at every 3 month follow-up. I then had a positive ANA at 1:160 Homogenous pattern. All other tests were normal. Tests I had were: EBV which revealed past infection (this had occurred a couple of years prior to the arthritis symptoms), Lyme disease, CBC, HLA-B27 antigen, protein electrophoresis, cyclic citrus peptide AB IGG, CPK, CRP, CBC WITH DIFFERENTIAL, comprehensive metabolic, Vit D, Vit B12, urinalysis, Sjogrens A&B, glucose and phos, CMV AB IGG &sign, ferritin, iron +TIBC, HEPATIC FUNCTION, CARDIOLIPIN ANTIBODY, Lupus anticoagulant (my daughter has this. Other daughter has MS) calcium, thyroid.

After ANA remained positive and increased to 1:320 he calls me ANA positive and no longer tests for it. About a year ago I developed mild Reynaud's, chronic anemia, low calcium. and low Vit D and elevated EOS. I developed thyroid nodules and had thyroidectomy April 2015. All other tests remain negative. Yesterday I got the results of my last blood work. Anemia improved but still there, Vit D and calcium normal. EOS is11.5.

I remain in a constant state of frustration at the lack of diagnosis. He says he's treating me exactly as he would be if RA and Lupus tests were all positive. It still drives me crazy. I don't even know how to answer the question from other doctors as to why I am on Plaquenil and Methotrexate. I just say "well...it appears I have SOMETHING..." I know you guys can relate to all of this. It has now been 3 years since my first rheumatologist visit.
Your thoughts would be very appreciated.

Emmie

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Mentor
Becky, Volunteer Mentor | @becsbuddy | Jan 1, 2021
In reply to @destinnana "Has anyone noticed any side effects from Plaquenil? It’s been offered to me but after reading..." + (show)
@destinnana

Has anyone noticed any side effects from Plaquenil? It’s been offered to me but after reading side effects I’m scare to take but it would seem has been helpful for many. I am going through the gambit of trying to figure things out and having little luck getting an appt with a Rhuematologist locally. First appt available is in March. I too have patches on my elbows, had rash on face across my nose, joints achy, diagnosed burning mouth syndrome and central sensitization (diagnosed at Mayo). I have constant sore throat and at times mouth sores. Have had candida in my mouth at times and on my lip. Positive ANA.

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@destinnana It must be so difficult knowing something is wrong but that you have to wait until March to see a doctor. Have you thought of going to a medical center or university medical center. That’s what I had to do. No one in my town could figure out what the symptoms meant. And the MRI of my brain puzzled all the doctors. My husband then called the University Med Center and explained all the symptoms. I was admitted in terrible shape but my husband was allowed to take me to the university hospital. We met with a neurologist and I’ve been under treatment since (and the local doctors have learned a lot!)
Many autoimmune diseases have only been diagnosed, or treatments found, in the last 10+ years so they are very new to doctors. Going to see a rheumatologist is a good first physician to see as autoimmune diseases come under their specialty.
Can you try a medical center near you? And, let us know what you learn.

REPLY
2 replies
ess77 - Elizabeth | @ess77 | Jan 1, 2021
In reply to @becsbuddy "@destinnana It must be so difficult knowing something is wrong but that you have to wait..." + (show)
@becsbuddy

@destinnana It must be so difficult knowing something is wrong but that you have to wait until March to see a doctor. Have you thought of going to a medical center or university medical center. That’s what I had to do. No one in my town could figure out what the symptoms meant. And the MRI of my brain puzzled all the doctors. My husband then called the University Med Center and explained all the symptoms. I was admitted in terrible shape but my husband was allowed to take me to the university hospital. We met with a neurologist and I’ve been under treatment since (and the local doctors have learned a lot!)
Many autoimmune diseases have only been diagnosed, or treatments found, in the last 10+ years so they are very new to doctors. Going to see a rheumatologist is a good first physician to see as autoimmune diseases come under their specialty.
Can you try a medical center near you? And, let us know what you learn.

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Sue, I have several autoimmune diseases that were all difficult to diagnose and treat. And, the little buggers like to play havoc with so many areas of our bodiy and lead to other issues. In my case, I find it truly takes a team of experts to link it all together and get me on the best track forward. I highly recommend a teaching hospital, large research/teaching clinic like Mayo or Cleveland or whatever is available re distance. It's well worth the extra effort. Blessings in your research and journey. I am seeing my neurology opthomologist in several days. I have Sjogren's I believe. Have had extreme dry eye problems, interfereing with my sight and getting much worse lately, treated only with refresh over the counter and now Xiidra drops for antiinflammatory issues. They burn so badly now I can't use them. I just realized Plaquenil is used for several autoimmune problems. I'm hoping this doc will have a discussion with me about the possibility Plaquenel will be of some help with joints pain, eyes, other issues I've dealt with for so many years. I'm ready to give it and anything else a try. I'm losing my ability to see! And, of course, I'm in pain all the time.....blessings to you all and the best in 2021! Elizabeth

REPLY
destinnana | @destinnana | Jan 2, 2021
In reply to @becsbuddy "@destinnana It must be so difficult knowing something is wrong but that you have to wait..." + (show)
@becsbuddy

@destinnana It must be so difficult knowing something is wrong but that you have to wait until March to see a doctor. Have you thought of going to a medical center or university medical center. That’s what I had to do. No one in my town could figure out what the symptoms meant. And the MRI of my brain puzzled all the doctors. My husband then called the University Med Center and explained all the symptoms. I was admitted in terrible shape but my husband was allowed to take me to the university hospital. We met with a neurologist and I’ve been under treatment since (and the local doctors have learned a lot!)
Many autoimmune diseases have only been diagnosed, or treatments found, in the last 10+ years so they are very new to doctors. Going to see a rheumatologist is a good first physician to see as autoimmune diseases come under their specialty.
Can you try a medical center near you? And, let us know what you learn.

Jump to this post

I have tried to get in locally or nearby to find there are waiting list and first available appt is in March. Going to Mayo Clinic in Jax in February. Have asked to schedule visit with a Rhuematologist there.

REPLY
1 reply
oldkarl | @oldkarl | Jan 3, 2021

Sounds to me like a good genetic sequencing is in order for you. I had multiplying symptoms making a mess of my life, and doctors just twiddled their thumbs. However, I had some genetic sequencing done, and things changed in a hurry. I only had a very simple sequencing done at first, but even that showed a lot. Nebula, Apollo, Ambrygen.com, Sequencing.com, will do a complete detailed sequencing of your genome for $300 - $400. Some will even do a partial for free to get you started. In the end, it will save you a ton of money and worry. But be sure to talk with a genetics whiz, as most doctors don't have a clue, even about how to contact and use the services.

REPLY
ess77 - Elizabeth | @ess77 | Jan 3, 2021
In reply to @destinnana "I have tried to get in locally or nearby to find there are waiting list and..." + (show)
@destinnana

I have tried to get in locally or nearby to find there are waiting list and first available appt is in March. Going to Mayo Clinic in Jax in February. Have asked to schedule visit with a Rhuematologist there.

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destinnana, congratulations on your Mayo appointment. February is almost here! And, you'll be seeing one of the best Rhuematologists at one of the best medical centers! At a time, as Becky mentioned, when autoimmune symptoms and the craziness they bring to your body and your life are more understood and diagnosed properly, with treatment options. I'm thrilled for you! It took me 40 years to get to today and finally get some good medical attention from a specialty that know so much now about these illnesses. Do let us know what your docs find. This is truly exciting for you. Blessings. Elizabeth (Oh, who know, we may run into each other at Jax Mayo! And never know it!)

REPLY
destinnana | @destinnana | Jan 5, 2021

I have been a patient at Mayo Clinic since they opened the doors in Jacksonville pretty much. I feel very blessed to be a part of the Executive Health program at Mayo and have such good medical attention. No place like Mayo Clinic!

REPLY
oldkarl | @oldkarl | Jan 6, 2021

Emmie, you are having a rough one, and doing it without much hope. I don't have all the answers, but I do have some suggestions. First, about taking Methotrexate. An MD started me on Methotrexate about 6 or 7 years ago, but a very low dose, about .08/week to slow down some progressive disease or other. After the diseases I have picked up speed, this MD retired, and another too his place, and upped my dosage to .8ml / weekly. This has slowed my GSN, FKTN, RyR2, TSE, RA, Encephalopathy, and the others down to barely moving. Methotrexate is a life-giver if used properly for the right purposes. Second, have you had a complete genetic sequencing? If not, you need to. Anyone struggling with potential genetic issues SHOULD get a complete genome sequencing. There are a fair number of organizations, including Nebula, Apollo, Sequencing.com, Ambrygen.com, and many more who can and will do it for you for free or for $300-$400.. Without this, you will probably just keep struggling with it until you die. Finally, Don't be afraid of the results. This knowledge will enable to gain a little more control of your own body, mind, and spirit. And it will enable you to move toward being your own best doctor, especially with the help of a good geneticist/diagnostician.

REPLY
terri672 | @terri672 | Jan 8, 2021

Emmie, So sorry for the frustration. I think all AI patients experience it... Have they done any X-rays to look for signs of Ankylosing spondylitis?

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ske22 | @ske22 | Feb 11, 2021
In reply to @brandeervatx "Hi @ske22! I just came across this thread and so much of your post resonated with..." + (show)
@brandeervatx

Hi @ske22!

I just came across this thread and so much of your post resonated with me. I'm 36, a former athlete who is in otherwise good health, but having been having similar AI symptoms the last 14 months (so still early in the "journey") and had my first rheum appointment in August after a positive ANA (1:640, atypical/speckled) in March and elevated CRP with every blood test since. Today I got a call that my Eos is also elevated and I'll be going back in to retest it in a few weeks' time. I have no diagnosis.

Negative for RF and anti-CCP. Getting crazy night sweats from time to time (we have to keep the room at 65 and have the ceiling fan on), and over the last 6 months increasingly severe menses with shortened time between cycles--had to be tested for premature perimenopause just to time it out. My care team is part of a large research and teaching hospital, but still no dice. I've seen a rheumatologist, endocrinologist, PCP, and will be getting a second opinion from a rheumatologist out of network next month.

I was struck by your description of the rash; I have a very similar issue! It started on my elbow and would slowly migrate towards my wrist, and then started to appear on the topside of my forearm. Tiny, itchy bumps that were either light red or skin colored. Worse in the heat/sweaty conditions. Left behind an oddly textured, scar-like spot where they clustered. Docs thought it was eczema, but it didn't respond to eczema drugs.

Currently on 400mg of plaquenil daily, which seems to be slowly helping the chronic swelling in my hands/feet, but still suffer from fatigue, exhaustion, and insomnia. If you get any updates, would love to know!

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Thanks for your reply! I guess I missed it a while back, but I’d love to see pics of your rash if you have any? I’ll post a few of mine too for comparison.

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