Home Forums MTHFR Support Forum Ask a Practitioner (closed) gene mutations and illness

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  • charly
    Participant
    Post count: 3

    hello, I’ve just received DNA results. I am trying to understand them and figure out what to do, esp. the light of chronic debilitating health issues (worsening since childhood) ,which the medical field so far has not been able to help me with, despite diagnosis for a couple of conditions. Can someone please give me some feedback?
    these results are from genetic genie, Sterling’s flagged quite a few more, both homo- and heterozygous.
    homozygous mutations
    COMT V158M
    COMT H62H
    VDR Taq
    MAO-A R297R
    CBS A360A
    heterozygous mutations:
    ACAT1-02
    MTR A2756G
    MTRR A66G
    MTRR K350A
    MTRR A664A
    AHCY-01
    AHCY-19

    charly
    Participant
    Post count: 3

    I have abt 70 Heterozygous mutations in detox and methylation categories (maybe 20 in detox), incl the ones above. And about 20 Homozygous mutations, all in methyl category.It is a long list, and I will try to compile it, unless I can email this privately to the right person. I am a bit overwhelmed, also dealing w untreated chronic illness, and would appreciate feedback from a knowledgeable person. Thanks.

    Sterling Hill Erdei
    Keymaster
    Post count: 123

    From the practitioners:

    DNA is a blueprint of what can be going on. It gives the practitioners a good place to look at what should be tested along with diet, environmental factors, lifestyle, health history, adrenals, hormones and other panels. So many doctors refuse to treat the SNP but will treat the person. You can look at this chart and ask a few things like anxiety? energy? depression? but that is just a little part of it. Big question for you. Have you chosen to find a practitioner who understands methylation and nutrigenomics?

    Sterling Hill Erdei

    charly
    Participant
    Post count: 3

    Hi, Yes, and thank you for the feedback. I started working w. Dr B in Southern California. The first visit was very overwhelming, I am trying to process all the info, and also waiting for blood test results to help identify what might actually be going on. I have looked at the list on mthfr though, and she is not listed. I hope she can actually help me. If you have other suggestions for a helpful doc please let me know.

    Cynthia Smith
    Participant
    Post count: 206

    Hi Charly, Im not sure who you are working with in CA as the movers and shakers in genetics are not in CA. There are good Practitioners there in the learning phase. Please make sure that you address your adrenal glands (likely pooped out) as well as your neurotransmitters and GI health. You may be at risk for gallbladder issues and malabsorption of good fats and fat soluble vitamins (and subsequent hormone formation) due to COMT SNPs; its magnified if you are taking BCPs. Same for estrogen breakdown issues (aka, estrogen dominance). There are simple fixes for both. You may also have issues with B12 metabolism, so you may want to address with adenosyl or hydroxy B12 if your MCV is higher than 92. Cynthia

    charly
    Participant
    Post count: 3

    Adrenals are popped out yes, proven black on white, some neurotransmitters acc. to blood tests are very very low (seratonin and nor epinephrine, for starters), GI health is very problematic, could be linked to lack of histamine and sulfur breakdown? hmmm…gallbladder and fat absorption, ok, how do i address this? generally speaking, systemic hormonal imbalance since a child but never properly diagnosed and treated. what are BCPs? Endometriosis. Re B12 metabolism, what is MVC? I remember that me B12 level was up there on last blood test, but D3 low despite 5000iu supplementation and lots of sunshine.
    Thank you for the feedback.
    PS the doc I saw had some good insights though prescribed a medication I am concerned about, for more energy and mood, Wellbutrin. I am highly sensitive to meds, esp of that type, and so will most likely abstain and use some of the sups she suggested instead, until I discuss this further with the doc.

    Istvan
    Participant
    Post count: 136

    Hi Charly!

    If you would like to set up an appointment with Cynthia, please contact her at c.smith@lifezonewellness.com

    Thank you!

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