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Help with Genetic Data and Brain and Intestinal Issues

Discussion in 'Genetic Testing and SNPs' started by incromatical, Jun 20, 2015.

  1. incromatical


    Hey guys, I would really appreciate your help on figuring out what's going on with my genetics and body. I have started the SMP for the MTHFR mutations and that is helping a little, but I am still having chronic constipation and at times difficulty concentrating, although my cognition is much better than it was a year back.

    I'm also taking DIM for the CYP2D6 S486T mutation since it's important for the metabolism of xenobiotics. In addition to this, the test showed that I have an increased risk for Celiac, although I have been tested negative for it I still do get headaches when I eat wheat so I have eliminated that.

    I am attaching my results that only have mutations and I would like input on the following.
    - What are the most relevant mutations here that I should be targeting and/or looking further into?
    -Any other suggestions as to how I can proceed from here?

    My Story
    I got sick 3 years ago when I moved into a new home and began to feel tired no matter how much I slept. This continued on for about a few months and then I started having chronic diarhea. Following another few months I noticed that my cognition was beginning to become affected; constantly feeling spaced out and difficulty concentrating and retaining information. My condition began to deteriorate from there as I started becoming sensitive to foods that I could previously eat without any problem (peanuts, wheat, etc.) as well as developing exercise intolerance/PEM.

    I have had a brain scan showing mild hypo-perfusion in the medial temporal lobe as well as the occipital lobe, normal MRI/CT scan though. Gastroscopy came back clear as well as an ultrasound of my abdomen. All my blood test markers are normal except for a decrease in Testosterone (in conjunction with a decrease in libido during this time period). Vitamin D is about 40 ng/ml (within range). Lyme Disease ELISA assay was negative.

    -Also worth mentioning, I had my tonsils removed at around 14, and had retinal detachment at 18 for which I got laser treatment.

    Misc Information
    I have suspected mold exposure as a possible culprit to my health problems and moved out about 9 months ago although theres a small amount of mold present in the washroom sink in this house as well (planning another move within the next month). My digestion has never been top notch, and even as a child I have had stomach aches and such but nothing as bad as it is now.

    Your input would be greatly appreciated!

    BTW, the pdf is custom generated (by me) in case you are wondering why there's only the mutations present.

    P.S. I am a 24 y/o and no one in my family has experienced detrimental affects (except for my brother having occasional nose bleeds in the past residency).

    Attached Files:

  2. Critterina

    Critterina Senior Member

    Arizona, USA
    Hi @incromatical ,

    http://www.ncbi.nlm.nih.gov/pubmed/17375260 This says that your mild congitive impairment is probably related to the mild hypo-perfusion in the medial temporal lobe, as seen on your scan.

    In my own experience, low testosterone (mine was undetectable) was associated with not getting out of bed, not leaving the house, and not really caring if the important stuff in my life happened. Have you been treated for that yet, and what improvement, if any, have you seen?

    Doesn't DIM mess with your hormones? I am not sure they know for certain exactly how it works. Did you discuss this with the person who gave you your low-T result?

    The gut issue - for me, doing an elimination diet over the course of about 6 months got me to a food list where I was about 90% better. (It was the kind where you stuck with a very limited diet, only tested one thing at a time, and didn't add back in something even if you tested negative for it.) It did not resolve the chronic diarrhea, though. You might consider an elimination diet.

    You also might consider a 4R gut rebuilding program. (Did you explain how you got from diarrhea to constipation? It's OK, gut rebuilding helps both.) There are some threads here and there is a lot online. I was glad I did the elimination diet first because through it I found that some of the supplements in the 4R programs (I did a hodgepodge) were contraindicated for my food sensitivities (which turned out to have the overarching theme of Histamine Intolerance). http://forums.phoenixrising.me/inde...rebuilding-program-summary.25761/#post-513971, you can ask @caledonia for her summary document on gut rebuilding, and http://forums.phoenixrising.me/inde...-and-sometimes-achieves-full-remission.13463/

    A third thing you might consider, if your doctor thinks you are a candidate for it, is a 72-hour fast. It is powerful medicine, and not to be undertaken lightly (or without a medical person who knows you saying it's OK.) It does a lot of things, including clearing up my histamine intolerance for a number of week to months. My story is on the thread Critterina's Histamine Intolerance Journal, which started after all three: 2 years of elimination diet, 8 weeks gut rebuilding, one week off, and the fast. http://forums.phoenixrising.me/index.php?threads/critterinas-histamine-intolerance-journal.34685/

    What I understand about the 4R and the fast are that they are actually good for a number of gut conditions. I looked at your SNPs, and I don't have a clue to what there could cause your symptoms. When I was reading your post, I thought mold exposure, too, before you mentioned it. I used an enzyme powder from the hardware store to clear the mold (and gunk) out of my bathroom sink and speed up my toilets. $10 for the powder; you might risk the money to see if it helps before you move, no matter what the tests said (did you have an allergy test for molds?).

    Your vitamin D seems on the low side - not below normal, but if the range is 30-100, 40 might be low enough to effect how you feel. Your doctor (who did the test) may say 'no prob' or may want your to supplement with a certain amount of D3 and retest you in 3-6 months.

    Best wishes for your speedy recovery!
  3. caledonia


    Cincinnati, OH, USA
    Just popping in to say click on my signature link to go to my page with lots of useful info - the 4R Gut Rebuilding Program, and the SNPs Interpretation Guide.

    I would agree with Critterina that it sounds like your gut needs help. Mold sounds like a possibility too.

    I saw many GSTP/GSTM SNPs in your list, but off the top of my head, I'm not sure if those are the major ones or not. If they are, they will have a large effect on your ability to make glutathione (and thus detoxify) and so will be as significant has having MTHFR/MTR/MTRR.
  4. incromatical


    Thanks for the replies. Caledonia I'll have a look at the 4R gut rebuilding and SNP interpretation guide as well.

    Critterina, I haven't been able to get much help regarding the low testosterone since a subsequent test came back within normal range although on the low end. I'll be seeing the endocrinologist again in the next two weeks and hopefully I can get a full pituitary function test done.

    DIM hasn't caused me any negative results and I haven't discussed these with anyone at the moment. I'll admit I haven't done too much research regarding this, but it does have a positive effect on balancing your estrogen ratios.

    I'll look into your story as well as the 4R gut rebuilding program as well as fasting. I used to fast before hand, and have even done a 72 hour fast at one point with no negative effects (albeit no positive either) but considering that I have sorted out some other issues, this may be something worth trying in the future.

    Oh and regarding the brain hypo-perfusion, at least for now I know it's not due to Medial Temporal Lobe atrophy since I have had normal MRI scans show up so I do believe this is because of the chronic mold exposure that I have been experiencing.

    One thing to mention is that at one point I had left to the caribbean for 1 one year (before all these issues started), and I noticed a significant improvement in my bowel movements, my sinusitis as well as the frequency of me catching colds. So I think mold may have been an issue for me for the past 10 years or so and only now I am crashing.

    What enzyme powder are you talking about?
  5. TheChosenOne

    TheChosenOne Senior Member

    You have ACAT +/- which makes you susceptible for leaky gut.
    The gut is very sensitive for heavy metals, especially mercury.
    I had candida for a very long period. I've done a lot of special diets which included antifungals and probiotics. In the end they didn't solve my problem. Only after 20 rounds of chelation my gut started to heal.
    I just want you to consider the posibility of heavy metals before starting expensive and intrusive diets.
  6. Valentijn

    Valentijn Senior Member

    There's no research indicating that the Yasko/Genetic Genie ACAT1 SNP ever has any impact at all, on anything. Hence there's no reason to suspect it of causing leaky gut.

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