Undiagnosed Autoimmune with back pain, spasms, and stiffness

Posted by amberlynne5 @amberlynne5, Fri, May 10 9:30am

Hi, I’m hoping that by posting my situation I can connect with people who have similar symptoms and possibly get me closer to an answer regarding what is going on with me.
My symptoms have gradually worsened in a 2 year time frame and got drastically worse last December. Things have gotten better since December but I seem to be having new issues since then. I have had issues with my back for approximately 10 years on and off mainly tightness of muscles in my back always in the right scapular area. I have always seen a chiropractor for this it gets better after but soon comes back. 2 yrs ago I stayed having pain in my right wrist and my knees were bothering me. I did not seek medical attention for this as the symptoms would come and go and I could go months in between of having nothing until it acted up again. I summed it up as I was working out to much, I was doing CrossFit type classes and running quite a bit.
Last fall things really changed however, I started having these terrible back spasms? It felt like a bolt of electricity down my spine and the pain would radiate out. It hurt to move or breath. The pain would eventually ease up but that would take almost all day for any relief. I had 3 of these episodes of which I seen my chiropractor for and he said he couldn’t make much since of it. Then I started having electric like shocks in the left side of my face this lasted for about 2 mos. During this time the muscles in my back grew drastically stiffer. The stiffness involved my whole back and neck. I finally went to my Dr. who sent me to Physcial Therapy. I went to 2 sessions and quit because they told me they were not for sure what the issue was and things were getting worse. I ended up back at my primary cares office due to worsening of symptoms. I started having low grade fevers every evening along with chills. I had no appetite (I ended up losing 10lbs in about 3 wks time). I have muscle twitches throughout my body, this has been constant since it started in early December. I have them every day regardless of how I’m feeling they seem worse when I feeling bad though. I had tensions headaches that were horrible no over the counter pain medicine would help. I also had an extremely sore throat and at times it felt like something was stuck in my throat this also caused trouble swallowing. I also had joint pain and muscle aches all over my body. I also suffer extreme fatigue. Heart palpitations, I had every test ran on my heart and they couldn’t find anything wrong. During this time I had tons of lab tests run and they found I had a positive ANA- 1:320, low positive Rheumatoid Factor- 37. I was sent to a Rheumatologist. Since this time I have seen 2 different rheumatologist the second I am still seeing today between the 2 I think they have ran every lab they could run and have only found a positive anti-RO SSA- >8.0. I had a salivary gland ultrasound that came back normal and a Schirmer test which was also normal- 18-20mm in both eyes for 5 mins. I had an MRI without contrast of my brain and cervical spine which came back normal. Lyme disease test which came back negative but I have had several drs tell me that that test is worthless. Which makes me second guess it’s findings. I also had an EMG done on arms and hands only which only found I had mild carpal tunnel. Dispite all the tests I have had done my rheumatologist has not been able to make a diagnosis. Y
While things have gotten a bit better since December I still have “flare ups”. I’ll have days and weeks I almost feel like my old self then all of a sudden I have several days in a row or weeks in a row where all my symptoms come back.
My rheumatologist has sent me back to the neurologist and I’m currently waiting for my appt. She says I need re-evaluated by him due to some new neurological symptoms I’m experiencing. Those include pins and needles feeling in my hands at night, a vibrating sensation in my left thigh and also my feet. The left side of my tongue and lips feel numb/tingling. And the persistent muscle twitching which has not resolved in its own. I also have trouble thinking at times (brain fog).
I’m sorry for the long post but I wanted to put it all out there to see if someone else has had anything similar. To add I’m a 33 yr old female and have been a type 1 diabetic for 32 yrs. my diabetes is very well controlled. My endocrinologist has ordered every lab she can to rule out anything on her side which included a celiac panel, adrenal panel, B-12, and there was one other but all of those tests came back normal. My ferritin level is low this was found about two years ago and they were never able to figure out why. When this flared up in December my primary checked my iron and the ferritin level was 19, borderline low which is what it always has been. She rechecked 4mos later and it had dropped to 6. I am back on my iron supplements currently.
Thanks in advance to anyone that can add any info that would be helpful to me figuring this out!

Liked by Lyn

Hello again. I did some Googling and I don’t have the muscle spasms associated with Stiff Person Syndrome. The rest of the symptoms line up, though.

In my Googling I came across a website that specifies on rare diseases (which I’m convinced is ultimately what ‘ dealing with) and, holy cow, there are literally hundreds. Unfortunately, there is not a symptom checker and unless you have a doctor that’s knowledgeable and passionate about identifying these rare diseases, I’m sure most people never get diagnosed.

That’s what I had hoped Mayo might be able to do. However, since I’ve been denied an appointment, I’m left with local doctors. The Dallas, TX area has some really top notched specialists, but I’m on my 6th rheumatologist and other than knowing I have osteoarthritis, the rest of my symptoms are still undiagnosed. I’ve also seen 5 neurologists, and several other specialists, had dozens of tests, etc. I’ve pretty much come to the conclusion, I will never know why I hurt all the time, everywhere (even when though I take strong daily Rx for pain), have vey poor balance (walk with a cane), numbness in hands, feet, legs, etc., eye pain, constant headaches, anxiety, and so forth.

Anyhow, thanks again for your comments, I wish you all the best with your health and wellness.

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@awinkler73

I am a 45 year old male and I have had similar symptoms. Find a neurologist that s familiar with GAD 65 and ask to see if they can do an antibiotic GAD 65 blood test. I have a disease called STIFF PERSON SYNDROME and those symptoms are relatable. The disease does affect women more often than men and it is very rare. I pray that this isn't what you have but I hope this helps put you in the right direction.

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Hello @awinkler73, Welcome to Connect. Thank you for sharing information about the GAD 65 blood test and Stiff Person Syndrome. There is another discussion here on Connect that you and @bryan_in_dallas may want to join.

> Groups > Brain & Nervous System > Stiff Person Syndrome
https://connect.mayoclinic.org/discussion/stiff-person-syndrome/

You may also be interested in the following article that appeared on Mayo Clinic's News Network.

Sharing Mayo Clinic: Diagnosed with stiff-person syndrome
https://newsnetwork.mayoclinic.org/discussion/sharing-mayo-clinic-diagnosed-with-stiff-person-syndrome/

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Thank you John! You’re a good man.

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@bryan_in_dallas

Hello again. I did some Googling and I don’t have the muscle spasms associated with Stiff Person Syndrome. The rest of the symptoms line up, though.

In my Googling I came across a website that specifies on rare diseases (which I’m convinced is ultimately what ‘ dealing with) and, holy cow, there are literally hundreds. Unfortunately, there is not a symptom checker and unless you have a doctor that’s knowledgeable and passionate about identifying these rare diseases, I’m sure most people never get diagnosed.

That’s what I had hoped Mayo might be able to do. However, since I’ve been denied an appointment, I’m left with local doctors. The Dallas, TX area has some really top notched specialists, but I’m on my 6th rheumatologist and other than knowing I have osteoarthritis, the rest of my symptoms are still undiagnosed. I’ve also seen 5 neurologists, and several other specialists, had dozens of tests, etc. I’ve pretty much come to the conclusion, I will never know why I hurt all the time, everywhere (even when though I take strong daily Rx for pain), have vey poor balance (walk with a cane), numbness in hands, feet, legs, etc., eye pain, constant headaches, anxiety, and so forth.

Anyhow, thanks again for your comments, I wish you all the best with your health and wellness.

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Just remember that everyone is different with this disease. Just because you don't have the spasms doesn't mean you don't have the disease. Most of my spasms were happening at night and I didn't know it. We went on vacation and were sleeping on a regular mattress and I woke my wife up with a major spasm. So it is still worth checking into.

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@awinkler73

Just remember that everyone is different with this disease. Just because you don't have the spasms doesn't mean you don't have the disease. Most of my spasms were happening at night and I didn't know it. We went on vacation and were sleeping on a regular mattress and I woke my wife up with a major spasm. So it is still worth checking into.

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Hi, @awinkler73 – that is a good reminder that everyone's experience with stiff person disease is different. Wondering how you are doing and if you've had more of the night spasms you mentioned?

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@amberlynne5

I’m not giving up I just feel stuck I guess. And I’m not completely certain it is Lyme. I have questioned Lyme, Lupus, or MS. (As have my primary care and current rheumatologist. The first visit with the neurologist he said it was probably viral and it would go away on its own.) Whatever it is it has definitely effected my nervous system. If it were Lyme I would think my symptoms would get worse over time mine however wax and wane. It gets bad for about a week and then things get better for awhile making me think it’s going away but it always comes back. I’ve been going through these cycles since December of last year. The only symptoms I have had every single day since this started is muscle twitching throughout the body and back pain.

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@amberlynne5 I'm really sorry about your health situation and am dealing with a somewhat similar experience. I do not get muscle spasms in the back but since I came back from living out of the country this May, I've had many symptoms increase and have gone to a ton of appointments, spent well over $4000 out of pocket on trying to get some answers, having labs drawn getting multiple opinions (regular PCP, Naturopath, Osteopath, Dental 3D Scan, Rheumatologist, Neurologist, etc. and finally I feel like it's looking like Lyme related. Some of my symptoms have changed or evolved and some come n go but not for long for the most part such as joint and muscular pain or the pulsating like twitch feelings all over, even on occasion facial areas, tingling on my scalp, tightness on my scalp, tender glands. I also had major hair loss and weight loss 17 lbs, weighing less than 100 after symptoms increased but I think some of that may have been from anxiety as I felt like I might have a progressive disease- thanks to Google search. But – same as you, the testing is questionable, even the Neurologist mentioned Lyme to me as his first question/comment. My first two hospital run tests (in May) said negative; one was a Lyme antibody and another was a Western blot. I switched to a new NP after being frustrated and feeling like I was getting nowhere. The new NP re-ran a Western Blot via Quest lab and it showed "reactive" to some Lyme bands but negative co-infections. I am due to get another test either with Igenex or Stonybrook and the Co-infections through MDL, as I guess some testing companies are better for Lyme but not it's common co-infections. The only other lab that was flagged as abnormal was a CD57 test, my number was 24 and they want you to be at a mimimum of 60 to 100 or so. It's usually an indicator of Lyme or that your body is trying to fight off something but can't. I've been told that I look well (because I'm not wheelchair bound I suppose and not overweight) and that my illness or myalgia of some sort would go away "in time". If it's Lyme or MS or any of those things they don't just go away, so I hear your frustration. I have had one 3 week low dose Doxy trial, tolerated it fine but didn't notice any major improvements. I'm supposed to get more Doxy while the new soon to be test(s) are processed for results; hopefully that'll be next week. Don't give up, and push for answers. You may have to work with a Functional MD or a Lyme Literate Doctor. I can't get in until February to see a Lyme MD. Look into Igenex or Stonybrook Western blot or Immunoblot just to see if anything shows up for you. MS and Lyme can look very similar on tests – even in brain scans. With MS though, usually gait issues, bladder issues, vision issues pop up; I fortunately have not had any of those symptoms. Hang in there, send me a message if you want. I wish you well healing & answers. – Amy

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@aeg73

@amberlynne5 I'm really sorry about your health situation and am dealing with a somewhat similar experience. I do not get muscle spasms in the back but since I came back from living out of the country this May, I've had many symptoms increase and have gone to a ton of appointments, spent well over $4000 out of pocket on trying to get some answers, having labs drawn getting multiple opinions (regular PCP, Naturopath, Osteopath, Dental 3D Scan, Rheumatologist, Neurologist, etc. and finally I feel like it's looking like Lyme related. Some of my symptoms have changed or evolved and some come n go but not for long for the most part such as joint and muscular pain or the pulsating like twitch feelings all over, even on occasion facial areas, tingling on my scalp, tightness on my scalp, tender glands. I also had major hair loss and weight loss 17 lbs, weighing less than 100 after symptoms increased but I think some of that may have been from anxiety as I felt like I might have a progressive disease- thanks to Google search. But – same as you, the testing is questionable, even the Neurologist mentioned Lyme to me as his first question/comment. My first two hospital run tests (in May) said negative; one was a Lyme antibody and another was a Western blot. I switched to a new NP after being frustrated and feeling like I was getting nowhere. The new NP re-ran a Western Blot via Quest lab and it showed "reactive" to some Lyme bands but negative co-infections. I am due to get another test either with Igenex or Stonybrook and the Co-infections through MDL, as I guess some testing companies are better for Lyme but not it's common co-infections. The only other lab that was flagged as abnormal was a CD57 test, my number was 24 and they want you to be at a mimimum of 60 to 100 or so. It's usually an indicator of Lyme or that your body is trying to fight off something but can't. I've been told that I look well (because I'm not wheelchair bound I suppose and not overweight) and that my illness or myalgia of some sort would go away "in time". If it's Lyme or MS or any of those things they don't just go away, so I hear your frustration. I have had one 3 week low dose Doxy trial, tolerated it fine but didn't notice any major improvements. I'm supposed to get more Doxy while the new soon to be test(s) are processed for results; hopefully that'll be next week. Don't give up, and push for answers. You may have to work with a Functional MD or a Lyme Literate Doctor. I can't get in until February to see a Lyme MD. Look into Igenex or Stonybrook Western blot or Immunoblot just to see if anything shows up for you. MS and Lyme can look very similar on tests – even in brain scans. With MS though, usually gait issues, bladder issues, vision issues pop up; I fortunately have not had any of those symptoms. Hang in there, send me a message if you want. I wish you well healing & answers. – Amy

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Good morning @aeg73 . Sounds like you have really been thru the wringer! I, too, had some of your symptoms and others, also. After begging, they finally did an MRI which showed demylinization of parts of my brain. I have Clippers disease, a rare autoimmune disease. The local doctors didn’t really know how to proceed so my husband took me to the university medical school and hospital. By then I had lost 20 pounds, couldn’t walk or talk, and was essentially unresponsive. It’s been a long road but I guess I’m as good as I’ll ever be. Thanks to steroids and rituxan ( a monoclonal antibody) . Have you thought about going to Mayo Clinic or another large medical/university center? I really wish you luck! Becky

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@becsbuddy

Good morning @aeg73 . Sounds like you have really been thru the wringer! I, too, had some of your symptoms and others, also. After begging, they finally did an MRI which showed demylinization of parts of my brain. I have Clippers disease, a rare autoimmune disease. The local doctors didn’t really know how to proceed so my husband took me to the university medical school and hospital. By then I had lost 20 pounds, couldn’t walk or talk, and was essentially unresponsive. It’s been a long road but I guess I’m as good as I’ll ever be. Thanks to steroids and rituxan ( a monoclonal antibody) . Have you thought about going to Mayo Clinic or another large medical/university center? I really wish you luck! Becky

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Hi @becsbuddy Thank you for your info. Sounds like your experience was incredibly scary. I have regained some weight back and don't have any weakness or gait issues so I fortunately do not think it's MS so at this point I'm going for more specific Lyme testing before getting any brain scans. I also don't want contrast scan because of the chemicals. I have MTHFR & some other genetic stuff that doesn't do well with chemicals so I don't want to add insult to injury. I did have a spinal x ray due to the musculoskeletal pains but that did not show any spinal lesions. From what I've read and heard Mayo isn't great with Lyme. So at this point I don't think it's warranted but appreciate your info. I hope your treatment has improved your quality of life. Kindly, Amy

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My wife seems to be in a similar boat. Her issues started with monthly sinus infections that would last 10 days. She was diagnosed with Chronic Variable immunodeficiency and started on IVIG years ago for low antibodies. No more sinus infections. 12 years ago started with profound fatigue, low grade fevers, chills and spent years in bed, not able to do much. Pain episodes started 1.5 years ago. She describes the pain as someone operating on her back without anesthesia lasting anywhere from hours to months. The pain usually starts in the back but has started over her eye, the leg ect and then spreads to the rest of her body. She is writhing in bed when the pain is bad and can take extremely high doses of opiods without much help. Last Sept. she spent 12 days on IV dilaudid in the hospital then discharged on IV dilaudid which she took until the episode resolved (2 months). She has been thru withdrawl numerous times as she will not take anything if she can hold off. Other symptoms include intermittent dysphonia (spasms of the vocal cords), intermittent diarrhea and constipation. Worst symptom is the pain but the fatugue, fever and chills are no fun either. Linda spent 4 days at Mayo, that is before the pains started and was a patient at the National Institute of Health for the Undiagnosed Disease Program. She has has an extensive workup from her wonderful immunologist, multiple neurologists, pain specialists, ENT…She has gone 3 months feeling great, then sx return. We have no idea what sets it off or what makes it better. Other Med problems include Hashimotos, Hypertension, premature ovarian failure (menapause at 36), CVID. She has been had extensive genetic testing and tested for Lyme. Still looking for answers.

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@amberlynne5

So far I have stayed local with my drs. My primary wanted to send me to Mayo Clinic in Rochester several months ago. However I felt the local drs had not done everything they could do for me so I requested a second opinion by another local rheumatologist. She seems very on top of it and is wanting to help get to the bottom of all this but she is now sending me back to the neurologist (who refused to do any further testing the first time around). I feel like I’m stuck in this loop of going back in forth between the rheumatologist and the neurologist with no answers for anything.

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I have PMR, but I was stuck in the loop you are in for a long, long time. Your post has elicited some wonderful advice. I can only tell you what worked for me. After consulting four rheumatologists, three orthopedists, and my PCP, I referred myself to Mayo Clinic. I found that the doctor at Mayo had far more knowledge–in part because she had treated a far greater number of patients with PMR. My diagnosis had been complicated by the fact that my symptoms were atypical for PMR. The doctors I had seen prior to going to Mayo, in my opinion, knew only what they had covered in their autoimmune class–if there is such a thing. Any deviation from the typical symptoms had no meaning for them.

Whatever your disease, I suspect that your symptoms are atypical which makes a hard to diagnose disease even more difficult to diagnose.

As a member of this group, I have observed a common thread among the membership. It appears to me that the vast majority advocate becoming a strong self-advocate and engaging in extensive research. I had a good idea of what my problem was before I went to Mayo because of the research I had done. That boosted my confidence in my ability to read my body.

Never had I ever thought that I would seek treatment at an out-of-state clinic for anything. The realization my life would have no quality if I remained in the loop motivated me to begin looking at reputable medical centers that could possibly help diagnose my problem. I had to travel by air to the clinic and had to stay in a local hotel for about three or four days. It was worth every penny I invested.

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@rachelp

I have PMR, but I was stuck in the loop you are in for a long, long time. Your post has elicited some wonderful advice. I can only tell you what worked for me. After consulting four rheumatologists, three orthopedists, and my PCP, I referred myself to Mayo Clinic. I found that the doctor at Mayo had far more knowledge–in part because she had treated a far greater number of patients with PMR. My diagnosis had been complicated by the fact that my symptoms were atypical for PMR. The doctors I had seen prior to going to Mayo, in my opinion, knew only what they had covered in their autoimmune class–if there is such a thing. Any deviation from the typical symptoms had no meaning for them.

Whatever your disease, I suspect that your symptoms are atypical which makes a hard to diagnose disease even more difficult to diagnose.

As a member of this group, I have observed a common thread among the membership. It appears to me that the vast majority advocate becoming a strong self-advocate and engaging in extensive research. I had a good idea of what my problem was before I went to Mayo because of the research I had done. That boosted my confidence in my ability to read my body.

Never had I ever thought that I would seek treatment at an out-of-state clinic for anything. The realization my life would have no quality if I remained in the loop motivated me to begin looking at reputable medical centers that could possibly help diagnose my problem. I had to travel by air to the clinic and had to stay in a local hotel for about three or four days. It was worth every penny I invested.

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@rachelp @amberlynne5 @jgerstley1 It sounds like you are all doing a great job of advocating for yourself! It is so important. Also keep a good notebook of who you see, what they say, what tests were done, etc. Encourage the doctors to ‘think outside the box’. Many of them never learned much about autoimmune diseases because there weren’t many until recently. An author wrote about “the autoimmune epidemic” and now those diseases are more studied in Med school. I finally went to a university hospital and a neurologist had heard of my disease! But, she was young and still doing a fellowship. ( my flight was just called so I’ll finish later!)

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@jgerstley1

My wife seems to be in a similar boat. Her issues started with monthly sinus infections that would last 10 days. She was diagnosed with Chronic Variable immunodeficiency and started on IVIG years ago for low antibodies. No more sinus infections. 12 years ago started with profound fatigue, low grade fevers, chills and spent years in bed, not able to do much. Pain episodes started 1.5 years ago. She describes the pain as someone operating on her back without anesthesia lasting anywhere from hours to months. The pain usually starts in the back but has started over her eye, the leg ect and then spreads to the rest of her body. She is writhing in bed when the pain is bad and can take extremely high doses of opiods without much help. Last Sept. she spent 12 days on IV dilaudid in the hospital then discharged on IV dilaudid which she took until the episode resolved (2 months). She has been thru withdrawl numerous times as she will not take anything if she can hold off. Other symptoms include intermittent dysphonia (spasms of the vocal cords), intermittent diarrhea and constipation. Worst symptom is the pain but the fatugue, fever and chills are no fun either. Linda spent 4 days at Mayo, that is before the pains started and was a patient at the National Institute of Health for the Undiagnosed Disease Program. She has has an extensive workup from her wonderful immunologist, multiple neurologists, pain specialists, ENT…She has gone 3 months feeling great, then sx return. We have no idea what sets it off or what makes it better. Other Med problems include Hashimotos, Hypertension, premature ovarian failure (menapause at 36), CVID. She has been had extensive genetic testing and tested for Lyme. Still looking for answers.

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@jgerstley1 Good morning. Your wife has had a really rough time—it must be so difficult for both of you. Have you been been back in touch with Mayo or NIH to let the doctors know of the changes? Maybe they could work with your local doctors. Is it possible to get in touch with them?

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So sorry for your painful difficulties..I would really try and find a Dr that specializes in Lyme and have further testing . Symptoms sound quite familiar to a friend of mine as so many of yours appear neurological and Lyme does that it is such a new phenomenon by hat getting a real accurate result is very challenging
Good luck

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@amberlynne5

I should also add that when the first rheumatologist that I saw ran labs my C3 compliments were slightly low however when the second rheumatologist ran them 2 mos later they had returned to the normal range.

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Hi Amber, I'm sorry that this is a late response to your original post. I have hashimoto's thyroiditis it's an autoimmune disease. I want to encourage you to see your regular doctors along with a natural path or integrated medicine doctor. Integrated medicine doctors test your vitamins and minerals things normal doctors don't. Tingling sensations can often be low b vitamins. I have a lot of joint pain and do not have arthritis. Fish oil, hyaluronic acid, supplements helped tremendously. I take a multitude of supplements. Magnesium helps with pain. I also do vitamin IVs and that helps tremendously. Do research on your vitamins and minerals include that in your care. It's a journey and they all work together I also see a chiropractor monthly and that helps as well.

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Hi!
I’m sorry that your going through so much. I can feel for you because it took awhile for them to diagnose what I had. Some of the symptoms you have I had. Finally I found a doctor that was able to diagnose the issue. I have an autoimmune disorder call stiff person syndrome. Tell your neurologist to check your ANTI GAD-65. I hope I was a help.

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