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Patient Cracks Her Own Mysterious Diagnosis

Discussion in 'Other Health News and Research' started by juniemarie, Apr 30, 2014.

  1. juniemarie

    juniemarie Senior Member

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    Doctors don't always know best:

    http://www.medscape.com/viewarticle/822136

    Medscape Medical News © 2014 WebMD, LLC
  2. Ema

    Ema Senior Member

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    Let's worry about Appalachia's basic problems (food (lack of good), drugs (too many bad), and general lack of educational resources before we start worrying about how we are going to take genomics to the poors. It will go down the same way everything else does.

    I'm really impressed with Kim. Many of us are doing our own research. Doctors just aren't paying attention and that is why they are surprised. And hopefully in for a rude awakening as their patients get smarter and call them on their BS.
    JPV, RML, merylg and 8 others like this.
  3. Martial

    Martial Senior Member

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    Lol great post
    merylg and rosie26 like this.
  4. Vegas

    Vegas Senior Member

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    Interference with proteins? Vast improvement after avoiding glutamates and glycoalkaloids? Right-sided Ventricular Cardiomyopathy (Diastolic Dysfunction)? De-myelinating disease? Sounds a lot like ME/CFS. I'd be asking the questions, what factors brought about the expression of her disease process and why do the removal of these nitrogenous compounds result in such dramatic improvement of her symptoms. What if there were a way to enhance the glycosylation of lamins.
    merylg and taniaaust1 like this.
  5. Martial

    Martial Senior Member

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    Well her symptoms sounded like a degenerative disease of the entire body, rather then an issue of inflammation in the PNS, CNS, and Brain alongside the other markers of CFS. People with ME may have similar symptoms based on slight inflammation but without progressive worsening damage and demyelination of the CNS system, among the other things like progressive heart and muscle issues and loss.

    Damn I am just shocked that a single mutation could cause all of that, I suppose because she wasn't getting the right nutrition for those proteins in the body. Still shocked to see how such a simple change could also reverse the conditions. I suppose her mutation caused the glyco alkaloids to block the proper absorption of these nutrients for her body, but still such an inexpensive and easy fix to work with doing nutritionally.
    merylg, Jon_Tradicionali and AbbyDear like this.
  6. taniaaust1

    taniaaust1 Senior Member

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    I kind of had to laugh at this article as what she did, most of us are doing and if the doctors didnt have such big egos that many think they are like gods, they'd realise just how much medical knowledge about our own illnesses so many of us have and that they could be learning a thing or two from us if they gave us a chance to share.

    I was spoken to like I was some naive person of much lower knowledge only today by a doctor who actually had it all wrong himself. He assessed me in a wrong manner for dysautonomia issues, a laying and standing test but his standing test was done was done immediately on standing and no readings taken after that. Then he tried to lecture me about these results saying...all people get a shift in BP when they go from laying to standing and told me I was fine. I wish I'd got his name so I could send him some info on just how these tests are supposed to be done.
    ............
    If she'd gone throu 23andME seeing she knew what she was looking for anyway.. she may of found out the same thing for only $99.

    Anyway.. great article and Im so glad she was able to make her story public.
    voner, merylg, Nielk and 2 others like this.
  7. Valentijn

    Valentijn Activity Level: 3

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    Single mutations directly cause a lot of diseases. They're generally referred to as being "pathogenic" when that happens.

    The ones discussed in methylation and such have a much milder impact, and can usually be completely compensated for with very simple dietary changes. The milder ones will also not directly cause a disease by themselves, though they might create a vulnerability.
    merylg, Martial and peggy-sue like this.
  8. Martial

    Martial Senior Member

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    Interesting, nut it definitely seems like hers did cause a lot of issues and a mystery type disease. That is so cool to know she was able to even reverse it all though!! The only thing that would be confusing to me is finding these mutations but the fact that you don't really know if the gene mutation is being expressed or not except by active symptoms, and then knowing if that is the single cause of symptoms or something else. Would not be an issue if you just had to adjust a couple things in life style, diet, and maybe buy some cheap supplements. However if it costed a lot of money to pursue possibilities and treatment further that could get expensive Lol. Not that it really matters though this is so cool! People finally have the power to work with themselves and heal themselves with proper knowledge, genomics really is the way of the future!
    merylg likes this.
  9. Valentijn

    Valentijn Activity Level: 3

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    Hers is probably pathogenic, especially since it involves LMNA, which has a lot of very nasty known pathogenic mutations. And since she was able to find the actual mutation, it's probably one that was already known to cause her disease. Otherwise it would just be guesswork, which doesn't seem to be the case.
    merylg likes this.
  10. leela

    leela Slow But Hopeful

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    "Leading physicians in the country were shocked that she could decipher her own problems."

    There's most of the problem right there.
    JPV, ahimsa, rosie26 and 9 others like this.
  11. Beyond

    Beyond 10% of discount in iHerb!--> PEZ915

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    Too bad that avoiding processed food, glutamate, gluten and nightshades (among other much things) have proven to be a big failure to attenuate or reverse my illness but is always encouraging to see someone that made it.
    merylg likes this.
  12. Sushi

    Sushi Moderator and Senior Member Albuquerque

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    Yes, that part got me too! :mad:

    You can't win--some doctors don't want you to be medically aware and research your own illness; others don't believe that we are able to and are doing this--in vast numbers! After all, we are the ones most interested in our personal health.

    Sushi
    ahimsa, Waverunner, merylg and 2 others like this.
  13. Beyond

    Beyond 10% of discount in iHerb!--> PEZ915

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    Uninformed people probably had got more testing and better treatment than me from my copious medic visits. If you dare to use some technicism then they get into denial mode, you can even fathom it in their faces, but I cannot help but to say something to help them understand a complicate case.

    However as said, if I had walked into the room saying "Feelin´bad- uh- need help doc-dunno what can be wrong-ah--too stupid to think about it :thumbdown:" I might have got more testing and better treatment in some cases.
    merylg and Sushi like this.
  14. Waverunner

    Waverunner Senior Member

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    Enough said.
    JPV, rosie26 and leela like this.

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