Invest in ME Conference 12: First Class in Every Way
OverTheHills wraps up our series of articles on this year's 12th Invest in ME International Conference (IIMEC12) in London with some reflections on her experience as a patient attending the conference for the first time.
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Undiagnosed rare disease (help please) :(

Discussion in 'General ME/CFS Discussion' started by findinglife, Feb 4, 2017.

  1. findinglife

    findinglife

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    Hi guys,

    For years I have suffered from fatigue, bad breath, body odor, easily crying, muscle weakness and various other problems. More importantly I also have wide hips (TOO wide clearly wide). My other problem is I have neurological issues...I don't think the same way other people do at least I feel so. I'm quieter then others and oh yeah I have SEVERE anxiety which affects my day to day life. At first I didn't want to believe it was genetic because that would mean my life was over. If I have to battle this condition for the rest of my life then I have nothing left at all but I have a feeling it is genetic.

    Anyway my question is simple...

    My doctors won't take me seriously at all. If I have A RARE genetic condition which may only affect a small group of people in the world how would I get diagnosed??? Is there a way to get diagnosed on the NHS or can I go somewhere to get diagnosed???

    Thank you for replies and sorry if this isn't CFS related I wasn't sure who to ask.
     
  2. undiagnosed

    undiagnosed Senior Member

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    Have you had any hormone levels measured? A few things you said made me think possible low testosterone.
     
    mirshine likes this.
  3. Kina

    Kina

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    I am not clear why you think you have some undiagnosed rare genetic condition. If you did have some rare genetic condition, why do you feel your life would be over -- whether diagnosed or not, many of you symptoms are treatable.

    You seem to be describing some gut issues, and both the fatigue and anxiety might a side-effect of that. The gut issues are treatable as well as the anxiety. I am not sure what wide hips have to do with anything. If your doctors thought you had a genetic condition, I am sure they would test you for it. If you did have some rare genetic condition, there would likely be no specific treatment, so that would mean they would treat your symptoms so you wouldn't be any further ahead except having a label. That leaves private testing but that would probably be a waste of money because very rare genetic conditions usually aren't detected by such tests.

    What kind of testing have you already had?

    Found this - https://www.genome.gov/17515946/learning-about-an-undiagnosed-condition-in-an-adult/
     
  4. findinglife

    findinglife

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    Hi guys,

    Lots of love for replying thanks means alot to me.

    The problem is the fatigue is crippling to the point I can't even work and I have LOW shgb and low testorterone but also I have severe body odor and bad breath if that makes a difference. I know body odor and bad breath are linked to metabolic disorders and I have a fainting suspicion I may have one since my brother has the same problems I do (low test, shgb, chronic severe body odor and bad breath).

    Anyway if it is a gut issue how would I fix it???

    What if its a metabolic disease my doctor says the NHS can't diagnose such diseases unless they know which disease their looking for so what would I do???
     
  5. undiagnosed

    undiagnosed Senior Member

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    It sounds like you aren't getting the help you expect from your doctors. I'm guessing your options there are exhausted for the moment? What did they tell you? I would do some research if you haven't already. Read some papers and try to come up with a hypothesis that explains your symptoms and is testable. Then seek out the necessary tests to support or falsify your hypothesis. Based on what you said with a long history of low testosterone, it wouldn't surprise me if there was some sort of underlying genetic cause. There have been a number of genetic conditions linked with low testosterone. I'm assuming you've ruled out things like diabetes, you aren't obese, liver/kidney disease, etc. I'm not sure if there are treatments that would treat the underlying condition or if you would just treat symptoms.
     
    Last edited: Feb 4, 2017
    mirshine likes this.
  6. aaron_c

    aaron_c Senior Member

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    Hi @findinglife

    Have you looked into pyroluria? It could account for a poor stress response, frequent fatigue, introversion, social anxiety, bad breath, obnoxious body odor, and low testosterone. I have heard speculation that there is a hereditary component, but I haven't ever heard of any one gene being associated with it...so I'm not really sure. The good news is that if you do have it treatment is fairly straightforward and relatively effective. I saw someone on a bodybuilding website claim that fixing zinc deficiency can bring low SHBG up a bit, but their link didn't work so I'm not sure how much to trust it.

    You can test for pyroluria with a test for urinary kryptopyrroles. Some doctors may be of the opinion that the effects of pyroluia have been exaggerated by its proponents, so you might need to find a friendly doctor. Orthomolecular psychiatrists in particular will know about this condition.

    The only thing I can find that causes wide hips in men is Klinefelter syndrome. You may not have it, however, as it seems like Klinefelter syndrome causes an increase in sex hormone binding globulin (that was what you meant by SHGB, right?) so your low SHBG would seem to rule Klinefelter syndrome out. Wide hips aren't the only sign of Klinefelter syndrome, so if you still want to look into it I would see if the rest of the description fits you. There is a genetic test available.

    Kushings Syndrome could cause low SHBG and low testosterone, as well as fatigue and depression. It has a whole bunch of other symptoms that you haven't mentioned, though.

    I am not a medical professional in any way. I'm sure I haven't produced an exhaustive list of what might cause your condition--although it may have exhausted my knowledge-base.

    I just took more Nystatin, which fuzzes up my brain a bit, so I'm afraid I'm not up for providing links just right now. Most of this is pretty available through googling, though.
     
  7. Daffodil

    Daffodil Senior Member

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    it also sounds gut related to me

    but then maybe everything is gut related..

    perhaps you can try changing to anti inflammatory diet and maybe taking probiotics? just guessing....
     
  8. caledonia

    caledonia

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  9. SK2018

    SK2018 SK

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    Forget the NHS they don't care and don't want to know ,head to the EU or Asia it's hard but rewarding
     

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