Discussions By Condition: I cannot get a diagnosis.

Sister Has Severe Mystery Illness - Please Help

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: dlaing22
  • November 12, 2011
  • 06:47 PM

In January 2010, my 32-year-old sister began experiencing unusual fatigue, weight loss, and burning in her lymph nodes and feet. Doctors ran dozens of tests but everything came back normal and they could only diagnosed her with idiopathic fibromyalgia/ neuropathy. The medications they prescribed did not help, and her symptoms got progressively worse until September 25 this year when she began to experience extremely low blood pressure and memory loss. Since then, she has been to the ER 13 times (including 3 in the last week) at 9 different hospitals for shortness of breath, body numbness, and high blood pressure in her head. She has been seeing a primary doctor, cardiologist, rheumatologist, and neurologist, received 5 CT scans( with and without contrast), 2 MRIs (with and without contrast), 1 nuclear heart test, and over 50 blood/biochemistry tests and no one has been able to diagnose her.

The only possible complication: she has 3-year-old silicone gel breast implants, but we recently spoke to a breast implant poisoning doctor and she doesn't believe the implants are the problem.

This week, she received a CMP and tests for Babesia, Lyme, and other infectious diseases, but everything came again back normal. Now she is considering removing her breast implants as a last resort, because she does not know what else to do. Her condition has taken a huge emotional and financial toll on our family, with no end in sight.

Please, if anyone has suggestions or knows a doctor who treats unknown/ mystery conditions, please let me know because she is struggling every day and now must face having an expensive breast removal surgery that may not help her at all.

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2 Replies:

  • What else is going on with your sister medically? There are several autoimmune disorders/diseases that are difficult to diagnose, present differently depending on the patient, and can blow up and subside before the patient can get to someone who will recognize the symptoms. Do you live near or with your sister? Is there someone who can do for her what she can't do for herself right now, which is document exactly what is going on? Someone organized, practical, unembarrassed, undramatic, and, again, organized. A rheumatologist should have picked up on anything autoimmune, but you say she's also seen a cardiologist and neurologist and had a lot of very expensive tests, and that they're now looking at infectious diseases. Have her symptoms been changing over time, or does she have different symptoms at different times? Do her specialists talk to each other? It sounds like she's got an awful lot going on for no one to have pegged it -- something this complicated would usually wind up diagnosed as a systemic autoimmune disorder, but if the rheumatologist doesn't know... How much confidence do you have in that particular specialist? Has she been checked for endocrine issues (adrenal, not just thyroid) or long-term disease like NAME syndrome that might have been overlooked before? You don't mention skin issues, but something like mastocytosis can go undiagnosed for years despite alarming symptoms. If you or someone else can watch your sister, talk to her, document everything, and then organize the information, it could help. After this much time, she's no longer freaking out; instead she is sitting on her fear and trying to minimize symptoms, either for her own sake or her frightened family's, so someone has to get her talking about the details, as unimportant or embarrassing as they may seem. Document a week of her life, all of it, then organize the data after. What she ate, when, how much, when she peed and slept and woke up and went outside and came in and if her fingers were cold or her nose itched or she got bitchy for no reason. It may do no good, and you may have already done all this, but you may sift through it and see something. She really needs someone else doing this for her, though -- she's got no objectivity left and probably little energy to be as meticulous as she needs to be. Seriously, ALL the details -- putting it together later could reveal something as basic and important as her pee was dark after drinking tons of water, or she hasn't been outside in weeks but looks like she got a tan, or sudden changes in temperature make her angry.
    Anonymous 42789 Replies
    • November 24, 2011
    • 03:31 AM
    • 0
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  • I am also experiencing same unexplainable symptoms and progressively getting worse with no diagnosis. There are rare or orphan diseases which are difficult to diagnose. With all the testing and negative results, it could be a disease which doctors are uninformed or haven't considered. One disease in particular, Prion disease, is very rare, and unfortunately there is no test and it affects individuals depending on the strain of the infectious prion. Unfortunately it is a mystery disease with little research because of the rarity. I truly hope this is not it, but I have also suffered so much and I have also been to hospitals and been put through all these tests.
    Coping 1 Replies
    • December 3, 2011
    • 08:52 PM
    • 0
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