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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Where to begin ? Please help me help my son.

Discussion in 'Genetic Testing and SNPs' started by Pattanna, Feb 24, 2014.

  1. Pattanna


    Hello All,

    I am exhausted, overwhelmed and frustrated.

    My young son (will be 5 years old soon) has been diagnosed with severe autism. He is still completely nonverbal and has limited receptive language. He has had intensive ABA since the beginning of 2013 and progress has been very very very slow. I am not going to EVER give up, but some days are very, very, very hard. And I am human.

    I had his 23-and-me test done ran his raw data through Livewello, GeneticGenie and Nutrahacker. I am confused by the results because Nutrahacker suggested that he may both benefit from methyl B12 and must methyl donors at the same time ! Most of the information went over my head. What is a mother to do ?

    Can someone, anyone please please please review his results and help me help him ? I am unable to upload his results as I am currently on an IPAD, but I am painstakingly cutting and pasting his Livewello results here. What stood out to me mostly was his homozygous FOLR2 mutations, but I am sure that others will recognize just as critical other mutations as well.

    Please, please, please help me. I will upload a file once I get access to a laptop. Although my son cannot communicate yet, I would like to thank you all on his behalf (be his voice, so to speak)

    Homozygous mutations :

    CBS A13637G
    MTHFD1 G1958A
    MTHFR (LOC100506310)
    MTRR A66G

    Heterozygous mutations :

    ACE Del16
    BHMT R239Q

    CBS C19150T
    CBS C699T
    CLCN6 rs13306560
    CLCN6 rs3737964

    FUT2 rs492602 G
    FUT2 rs601338 A
    FUT2 rs602662 A

    GAD1 rs12185692
    GAD1 rs3791851
    GAD1 rs3791878
    GAD1 rs3828275
    GAD1 rs701492 T
    GAD1 rs769407 C

    MIR4761 (COMT -61 P199P)
    MIR4761 (COMT H62H) rs4633
    MIR4761 (COMT V158M)
    MIR4761 (COMT) rs6269
    MTHFD1 C105T rs1076991
    MTHFD1L rs17349743
    MTHFD1L rs6922269
    MTHFR rs17037390
    MTHFR rs4846049
    MTHFR A1298C
    MTHFR A1572G
    MTHFS rs6495446
    MTRR-11 A664A
    NOS3 rs3918188
    PEMT rs4244593
    PEMT rs4646406
    TCN2 C766G
    VDR Bsm
  2. minkeygirl

    minkeygirl But I Look So Good.

    Left Coast
    Where are you? There might be a doctor in your area that uses Dr. Yasko's protocol. In fact if you try Googling Yasko and your city or Methylation and your city you might get some hits. That's how I found my doctor.
  3. Pattanna


    Thank you, minkeygirl. I am searching for a doctor, but in the meanwhile, would like to learn as much as possible about my son's challenges. My fear is that I will come across like a babbling, emotional idiot to the physician, hence my request for help from anyone knowledgable here to give me feedback on the mutations posted above.
    minkeygirl likes this.
  4. minkeygirl

    minkeygirl But I Look So Good.

    Left Coast
    When you find a doc who understands methylation they won't think you're a babbling idiot. I finally found a Naturopath last year. At my first appointment I cried because she totally got it and how sick I was with ME.

    The first thing she did, after reading my labs and discussing my history was get me on something for my CBS mutations. So find someone in your area. It'll be worth it, especially since your son's condition is so complicated.
  5. Pattanna


    I see other posts getting responses discussing their mutations. I am hoping to get responses, too. Thank you.
  6. SOC

    SOC Senior Member

    You might have better luck at a forum whose focus is autism. This is a forum for people with ME/CFS, so our focus and approach may not be the right one for your son. Still, we have a lot of very knowledgeable people here, so hopefully you'll be able to get some useful info. There might also be someone who can point you to a knowledgeable autism board.
  7. anxiousguy



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