So, long story short...the only DX I have is Undifferentiated Connective Tissue Disease. My ANA last check 6-8 months ago was still neg. I have been positive for APL antibodies X3 and have MRI confirmed joint inflammation as well, making treatment FINALLY (after a year of being in a downward spiral) possible. I've been trying to tell my rheumy for months that I have muscle weakness, transient speech problems, memory issues...etc.. for months, but she said she thought the weakness was due to fatigue and cognitive problems are very common with many rheumatic conditions. Two weeks ago my weakness rapidly accelerated in my legs to the point where I couldn't walk and I ended up hospitalized for two nights (I'm mostly better now...thank God). The only thing CT and MRI revealed was some arthritis on my lumbar spine (I'm 26 and a healthy weight, so this is likely inflammatory related). I had an outpatient EMG today and it revealed that I have CNS dysfunction; my brain is basically failing to properly communicate with my muscles. I've tried, tried, tried over the past 18 months to have the possibility of ANA negative SLE taken seriously, but nobody will!!! I'm going to a group of rheumatologists ranked 14th in the nation and still it's a resounding NO. I'm on Methotrexate and plaquenil, but neither treat CNS SLE. I'm scared, confused, and frustrated. I have an appointment with a Dermatopathologist tomorrow and I'm going to request...no...INSIST upon a skin biopsy for SLE. I have three family members (now deceased) that all had SLE; one went blind and then had a stroke from it, and another had end stage renal disease from it. I'm a single mom....I HAVE to stick around for my daughter!
I forgot to mention that I do have other SLE features; photosensitivity, malar rash, pericardic pain (they assumed it was mitral valve prolapse for years...now since starting MTX, it is gone), hair loss, weight loss, intermittent fevers (99.4-100.4)....etc.
I would think a good neurologist might be able to help, I have some of the same issues with the transient speech, weakness and memory I should get it checked out but don't, thats a whole other story. You should try to see a neurologist, I hear they can be helpful when the lupus hits the brain. One thing I'm curious about, if as you claim the doctors don't take your ana negative sle seriously who's ordered the methotrexate and plaquenil, those are both standard treatments for SLE, someone is taking you seriously.
UCTD is a close relative of lupus and can also have devastating consequences. Many start out as UCTD and over the years progress to SLE or vacillate back and forth between the 2 diagnoses. Your APL can be causing some of your CNS symptoms too and can be a stand alone disease part of lupus or part of UCTD. I have APL and take daily aspirin for treatment Methotrexate is a treatment for many of the autoimmune diseases as well as the plaquenil so you are being treated There is no specific drug or treatment just for CNS and APL is notoriously unresponsive to steroids and such. Hang in there
Hopeful, I was evaluated by a team of neurologists at Barnes, but maybe since my EMG came back abnormal one will actually take this seriously. They started me on MTX because I had joint inflammation with some degree of synovitis (this leads to joint damage eventually) on MRI, then when the MTX only helped 30-40% with the pain, they started me on plaquenil to "augment" the MTX (approx. 2 weeks ago). They still refuse to take an SLE DX seriously, which impacts my care because they don't do things like monitor my urine, complement levels and antiDSDNA (I've had low levels present previously).
BTW, when admitted to Barnes, it's standard to have a whole team of specialists. They mainly focused on ruling out MS, stoke, and cancer because that was the biggest threat with my symptoms. Then they DC'd me.
Poobie, the problem is that UCTD does not have CNS involvement...when there is CNS involvement, either the DX is wrong, or there is another condition going on at the same time. My APL antibodies last check (not long before I had the acute episode of lower extremity weakness) had actually down quite a bit. I take ASA as well and take Krill Oil too. The problem with CNS SLE and MTX is that MTX does not treat it (not the right immunosuppressant). Cellcept is one immunosuppressant used when there is CNS involvement with SLE....it's not always effective, but it is more effective than MTX (which has no effect).
I just need an accurate DX so that I may have the right monitoring and treatment :(
Hi Rnmom,
I am diagnosed with cns lupus with brain involvement. My ana was positive but my difficulties were that the rest of my bloodwork was ok. I had difficulties with speech, walking, balance, involuntary movement ect. Eventually I could barely speak at all. My rheumy demanded my neuro order a lumbar puncture. That is how he was able to diagnose me because of the immunogloblins in my spinal fluid. I started with 3 transfusions of steroids and than was put on 30 mg of prednisone and 2000 mg of cellcept. I am now after 3 months starting to notice improvement. It does sound like your symptoms are very similar to mine. It took me a long time to find the right dr to have experience with this type of lupus and to know what to look for. I am very thankful I had the lumbar puncture. Keep fighting, you know how you feel and what is going on. I do have a question you mentioned when it is cns usually something else is also going on. What did you mean by that? I hope you find your answers soon. Tons of hugs.
Thanks so much Reddog! I really do feel for you. I hope you continue to improve! I graduated high in my class, but at one point was nearly in tears thinking I might have to give up nursing because of my memory, concentration, and speech issues. Some of that has thankfully gotten better as the APL antibodies went down with treatment with MTX, but this CNS dysfuction thing really scared me! I need to get all this sorted out once and for all. I got a skin biopsy done today to look for SLE. My rheumatologist who is normally super quick about calling me with final test results and plans for the next step has yet to call me...I think she might be either stumped or trying to get over the denial and accept the fact that she just may in fact have a ANA neg lupus case on her hands...we shall see.
All I meant is that when it comes to UCTD, neurologic symptoms are mainly limited to some minor memory/concentration issues (thought to be primarily fatigue related), and that when overt neuro symptoms occur, either the diagnosis is either wrong or there is something else happening along side the UCTD. That is what I have found from literature. UCTD usually is fairly mild and has no major organ involvement. Kidney dysfuction is another red-flag that something more is happening. Personally, for me, my creatinine has jumped as high as 1.1 for no rational reason (should be a maximum of approx. 0.85 considering my age).
I've done a ridiculous amount of research, but if I hadn't, I would still be waiting for a doctor to help me and I'd likely be fully disabled by now.
Keep at it. Because you are right, I kept thinking the drs. knew best and I am disabled now. It seemed to happen so quickly. I kept trying to get help but I also was in denial to thinking anything serious was wrong. I didn't share some things with my drs that I should have. Fight for what you believe is right. You have the right to live a wonderful life not centered on an illness. I hope you get your answer from the biopsy. Let us know. Good luck.
Neuropathy is very common in UCTD as well - motor, sensory and central- what did your EMG actually give as a diagnosis? Glad to hear that the methotrexate has helped your APL- in my case many of my CNS symptoms were from microvascular clotting in my brain- for which the aspirin prevents nicely.
Stick with it, a lot of the times we have to advocate for ourselves sometimes loudly before doctors listen. I wish you luck.
Can I ask....? You mentioned that at Barnes, they focused on ruling out various things, including MS. Did you have a Lumbar puncture?
RNmom said:
Hopeful, I was evaluated by a team of neurologists at Barnes, but maybe since my EMG came back abnormal one will actually take this seriously. They started me on MTX because I had joint inflammation with some degree of synovitis (this leads to joint damage eventually) on MRI, then when the MTX only helped 30-40% with the pain, they started me on plaquenil to "augment" the MTX (approx. 2 weeks ago). They still refuse to take an SLE DX seriously, which impacts my care because they don't do things like monitor my urine, complement levels and antiDSDNA (I've had low levels present previously).
BTW, when admitted to Barnes, it's standard to have a whole team of specialists. They mainly focused on ruling out MS, stoke, and cancer because that was the biggest threat with my symptoms. Then they DC'd me.
Poobie, the problem is that UCTD does not have CNS involvement...when there is CNS involvement, either the DX is wrong, or there is another condition going on at the same time. My APL antibodies last check (not long before I had the acute episode of lower extremity weakness) had actually down quite a bit. I take ASA as well and take Krill Oil too. The problem with CNS SLE and MTX is that MTX does not treat it (not the right immunosuppressant). Cellcept is one immunosuppressant used when there is CNS involvement with SLE....it's not always effective, but it is more effective than MTX (which has no effect).
I just need an accurate DX so that I may have the right monitoring and treatment :(
Just curious how you are doing? Did you get the skin biopsy? Having cns lupus I know how scary the symptoms are and I went for years before I was diagnosed, so I know how scary and frustrating that is. I just wanted to see if you made any progress. Let us know any updates. Tons of hugs.
hello there, so very sad to hear about all this, I don't really know what to suggest, the plaquenil along with the methotrexate should start to have an effect how long have you been on them for?
I think the trouble is we are quite a small number of people who have this horrid disease and so funding for research is minimal so all the consultants can do is use the few tools they have
Have you used steroids? I don't think they can be prescribed along with Methotrexate, maybe ask.
I take them with the plaquenil and it certainly helps with inflammation/ kidneys etc.
Do let me know how it goes for you, thinking of you and your daughter, Love Louisa
Thanks everyone. Sorry for the long abscence :( All the literature that I've read has said that renal and CNS involvement with UCTD is "rare"....IDK what to make of it really. But then again, literature also states that UCTD is usually mild and usually only requires NSAIDs and that was not the case with me either.
So basically the EMG showed a slow initiation of muscle contraction consistent with central nervous system dysfunction of some sort....so my brain and/or spinal cord isn't communicating well with my body; pretty vague and nonspecific.My rheumy doesn't seem too terribly concerned. I've tried mentioning in passing a LP, but I've not had one. I think it's something worth exploring, but my doctor doesn't seem to think so.
Shortly after all the weakness issues, I broke out in a photosensitive rash all over my face, ears, neck, chest, arms and the tops of my hands. The on-call rheumy put me on high dose prednisone and it ticked my rheumy off, but I felt NORMAL for the first time in so long. It took almost two months to wean off. It turns out that her putting me on prednisone at that time was perfect timing though bc right before that happened, by C3 level dropped into the 70s, but my doctor didn't say a word about it at the time. After my rash developed she finally mentioned it and was interested in it and re-tested my level which had gone up to the low 80s, but I also felt better too, so she lost interest in that as well.
Now since being off the steroids for a while I'm struggling again.
My rheumy doesn't want to touch my case hardly at all; says it's too "complex" and not typical of the cases seen. That she doesn't feel comfortable treating me bc I'm in this "grey zone" but have significant symptoms. She suggested that I get a full work-up at the Mayo Clinic which all locations are 10+ hours away. She almost seems to just keep me on as a patient with follow-ups bc it seems interesting, but she always mentions now about how out of her comfort zone with treatment and monitoring she is. IDK what to make of it.
I did get the skin biopsy though of my hip, it was negative. More dead ends there I guess.
My case remains just interesting enough/suspicious enough to get some form of treatment, but not enough for a diagnosis. I feel I've made about a 50% recovery if I look at when I was my sickest, but I'm 27 years old...that's not enough.
I know this is a long an rambling message.
I now have a lot of dizziness and ringing in my ears periodically, along with balance issues. Probably just some sort of middle ear thing I guess. Likely not related and won't kill me so it is what it is.
Thank you all so much for the support and I hope all of you are doing well.
I can imagine your frustration! I have also been diagnosed with UCTD but my ANA was positive. It was all my other blood work that was okay. I have the photosensitivity, which is horrible on my scalp and I am losing hair. I have severe joint pain, confusion, short-term memory problems, etc. The exhaustion I feel is overwhelming. The rheumy told me I was an "interesting case" and said I was "Lupus Like". My daughter was diagnosed with Lupus at when she was 17 years old, another daughter had MS and I have a niece with Lupus.
So my rheumy gives me plaquenil and checks my blood once a year. Other than that, she treats me like I'm just a pain in her neck. I was told that my balance problems and memory issue were caused by depression!
I also have Trigeminal Neuralgia and have to see a Pain Specialist and a sleep disorder so I have to see another doc for that. I would just like to find a rheumy that will take me seriously.
Cathy In MD
Hi Rnmom,
As I had posted before I have cns lupus. It took 5 different rheumies and 2 neuros before I was pointed to the rheumy that has helped me. Most of the rheumies do not have experience with cns lupus and do not recognize the symptoms. My bloodwork also does not show much, although my ana is always positive. But the rheumies would always push me to see a neuro and the neuros would always say no it must be autoimmune. Finally my latest rheumy said because of all the neurological symptoms sometimes there would be clinical evidence in the spinal fluid. The lumbar puncture provided the proof I needed and saved my life.
When you were on the prednisone you felt better because it took the inflammation down. Your right cellcept and prednisone are the right drugs for cns lupus. Because of stomach issues I have had to stop the cellcept for awhile. During that period of time my brain function would start to slow down. I could tell my thinking process was slowing and you could start to hear the breaks in my speech again. It's just amazing what a difference a medication makes. But it is also not without it's bad effects also.
I am 53 now and have been having symptoms since I was a little girl. Some symptoms are newer and some I have had a long time. I have had noise in my ears for a long time and I have hearing loss. I also have had dizziness since I was a little girl and vertigo since my twenties. Do not ignore any symptoms. I did this and I wish that I didn't. Take your symptoms seriously. The mayo would be a good idea. What is 10 hours when you have the rest of your life to live feeling better or feeling not so good? I know what you are going through, I have been there. Knowing something is wrong but not getting an answer or help. You are young and need to enjoy your life and not be burdened with the worry of what is wrong. My heart goes out to you. Tons of hugs