Undiagnosed Autoimmune with back pain, spasms, and stiffness

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.

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/

Thank you John! You’re a good man.

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.

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?

@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

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

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

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.

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.