Discussions By Condition: I cannot get a diagnosis.

Sudden onset, unusual symptoms, please help?

Posted In: I cannot get a diagnosis. 5 Replies
  • Posted By: ktpenn
  • June 21, 2009
  • 00:14 PM

I am at my witts-end and am hopeful someone will provide me w/ the feedback that will help me find answers. Here's my story. I am a 27year old female, who was actively going to the gym, working as an RN, and no significant medical problems, with the exception of high cholesterol.
About 1 month ago, I woke up w/ feelings of heavy/weak limbs, tingling to the right side of my body, and diarrhea (unsure if related). I was experiencing chronic urticaria intermittently, which began about six months ago, but now occuring daily. As days progressed, my body became unusually and extremely fatigued. I started getting sharp pains in my neck shooting down my back that has gradually become a consistant overall (especially lower) back pain. I have had low-grade fevers almost daily over the past month. I get numbness/tingling sensations sporadically throughout the day. I do have decent days and "flare-up" days where I can barely feel strong enough to walk because my body is stiff, heavy, and tight. Recently, I have been experiencing indigestion (unsual for me), blurred vision, and sudden nausea. As time goes on I feel the symptoms progressively get worse. These are the treatments I have already received: MRI of brain (normal, no leasions); MRI of cervical spine (4mm hemangeoma, insignificant). Battery of labwork, including Lyme, which was negative (although I don't trust general Lyme testing, w/ an increase in false negatives, and believe that area needs to be investigated further). My labwork was WNL, w/ the exception of a POSITIVE ANA 1:160, Nucleolous Pattern. I have an appt w/ a Rheumatologist this week, assuming to rule out autoimmunde d/o's. I have already been to a neurologist, who did nerve condution testing and basically ruled out a "neurological problem" and said the Rheumotologist can take it from here. I did take a course of Predisone that was very helpful w/ the symptoms but I dont want to mask the symptoms, I want to know why they are there! I don't think I can manage feeling this way much longer, and I would truly appreciate any feedback. Thank you so much.

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5 Replies:

  • Okay, 1:160 with a nucleolar pattern would increase suspicion of either Slceroderma or CREST Syndrome, although CREST is more often a centromere pattern. Further evaluation needs to be done in the following manner: Scl-70 kD kinetochore PM-1 A positive ANA alone isn't really diagnostic of anything since about 5% of the population will test ANA positive in the absence of underlying disorders. We would want to run the other tests mentioned because aside from the particular ANA pattern, the antibodies or antigens which cause the response in the case of Scleroderma or CREST would be RNA polymerase I, fibrillarin and DNA topoisomerase I. If the results of all these tests are positive, then the likelihood of scleroderma or CREST being present is extremely high. Let us know the results. Best regards, J Cottle, MD
    JCottleMD 580 Replies Flag this Response
  • Thank you so much for your feedback. I have been keeping notes and am going for two opinions on Thursday. Being a Nurse of course, I think the worse. Every bit of advice/knowledge is helpful. Thank you! I am still very concerned about Lyme, my symptoms are definitly not cohesive w/ scleroderma. I just hope to feel better soon .. I am at a loss and miss the way I had functioned prior.
    ktpenn 6 Replies Flag this Response
  • Well, I'm not suggesting the worst or the best but simply suspicions based upon the outcome of the ANA provided. Again, however, I do suggest that you request the tests mentioned in order to rule out the disease. There seems to be a proliference of fascination with Lyme Disease, particularly on the forums and most of the hype comes from alternative medicine folks and patients alike who feel that all the testing available can't produce a positive titer until evaluated by a Lyme Literate doctor, who invariably is capable of producing either a positive result or, at the very least, an ambiguous one. Lyme disease is simply not as common as many people believe, particularly in the case of secondary or tertiary symptoms. I also would not think your symptoms to be related to late effects of a Lyme infection. Best regards, J Cottle, MD
    JCottleMD 580 Replies Flag this Response
  • Thank you. Are there are pinpoint symptoms to scleroderma than the thickening of the skin? And do you have other suggestions? I so appreciate your feedbank.
    ktpenn 6 Replies Flag this Response
  • Results back .. I have Lyme Disease.
    ktpenn 6 Replies Flag this Response
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