Baby Diagnosed with ‘Rare’ Genetic Disorder: MTHFR

This is exactly why I am asking for your help getting on the radar.

Baby diagnosed with MTHFR mutation

Baby Born with MTHFR Mutation. CLICK TO WATCH VIDEO

This young child has a MTHFR mutation. I know how to help. It saddens me greatly to see this.

Men and Women:
Desiring to get pregnant? I urge you to test yourselves for MTHFR mutations.

I urge you to test yourselves and your children for MTHFR mutations.

From what I’ve seen in the literature (I need a solid reference still):
The C677T MTHFR Mutation affects over 5% to 10% of the population. That is not rare.
The A1298C MTHFR Mutation affects over 20% – 30% of the population. That is not rare.

An individual can also have both A1298C and C677T MTHFR mutations – and others.

Perhaps this baby has more than two of these common MTHFR mutations – as there are over 20 MTHFR polymorphisms (according to 2000 literature). I’m certain there are many more found by now.

Prevention is crucial. Test yourselves before getting pregnant and test yourself even if you are already pregnant. It is not too late to supplement with the proper nutrients.

If you, friend, colleague or loved one has a MTHFR mutation, and you are not receiving results, bookmark this website as the information provided is very beneficial.

Please post a comment below if you know someone or yourself has, or suspect has, a MTHFR mutation. Are you receiving the information you need? If not, what information do you need?

In health,
Dr Ben

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23 Responses to “Baby Diagnosed with ‘Rare’ Genetic Disorder: MTHFR”

  1. Ian February 8, 2014 at 8:31 pm #

    Dr. Ben,

    I am homozygous:
    MAO-A R297R


    MTHFR C677T, COMT V158M, COMT H62H, VDR Bsm, VDR Taq, MTRR A66G, MTRR A664A, BHMT-02, BHMT-08, CBS C699T, CBS A360A

    I am a father to a 20-month old daughter and I suspect that she has my MTHFR mutation (am waiting on the testing) because she has the same physical symptoms. If I am thinking of reproducing again, will supplementation in advance of reproduction assist with minimizing the risk of my future child having the mutation? Or once it is there is it there forever?



  2. Karen Marciniak November 8, 2014 at 11:20 pm #

    I have tested positive for heterozygous A1298C. I have had the relevant symptoms to the highest degree also have had two relevant surgeries, colon resection for diverticulitis and tonsillectomy for a peritonsillar abscess. A Chiropractor told me I had slight spinal bifida after looking at my xrays. Also anxiety, poor sleep quality, high blood pressure, gerd, gallstones and other gastrointestinal problems. Please advise if I should have further genetic testing and what type of supplementation I need. My daughter has tested positive for both 677 and 1298. My son passed away from Gastric Cancer.

  3. Carrie Ward November 21, 2014 at 7:59 pm #

    How can you treat an infant with an MTHFR 677T or 677TT mutation? I am homozygous 677TT and my brother just had a baby who was born with tongue tie. I have heard that midline defects can be a result of methylation problems. Is that accurate? My niece could have an MTHFR mutation and I believe it’s important to have her tested but even if she tests positive, is there methylated folate and other easily absorbable B vitamins that are recommended for infants. Unfortunately, when my daughter was born, 11 years ago, i asked the pediatrician to test her for 677TT, they assured me she didn’t have the mutation. Then, after ADHD diagnosis, severe gluten sensitivity problems, asthma, allergies, etc. we had my daughter tested again and this time it showed she is a homozygote for the 677TT mutation. I wish i would have asked the pediatrician for the report! It could have saved my daughter many hospital trips and suffering.

    • Caleb November 24, 2014 at 4:49 pm #

      I have this same question, I hope Dr. Lynch is able to answer this, as I can not find a clear answer to this anywhere.

  4. Julie December 9, 2014 at 7:17 am #

    My 2 year old was just diagnosed autistic and MTHFR C677T heterozygous. He developed this after the doctor tried to “catch him up” on vaccines–losing language and social skills. I have his social skills back and am working on language. I am working through the diet and will begin detoxing him. I also have a 6 month old who is allergic to every formula on the market. I just started making formula from homemade broth and chicken livers. Do I need a multivitamin for him and if so what kind? I’m so worried that he is not getting enough nutrients, but when I put him on formula, he loses eye contact, gets a runny nose, spits up the formula, stops sleeping and gets generally upset. I don’t know what to do to make sure he has the proper nutrients. Please help me!

  5. Elaine Eckhoff January 2, 2015 at 1:58 pm #

    Good morning Dr … now that I have discovered two mutations in heterozigoto.estou very confused and scared. have a 5 year old son witha syndrome genito called patellar and I’m pretty sure it was due to my mutation that he came so. I’m monitoring a hematologist and high risk umginecologista because I intend to have more children. I still have support from a geneticist . I live in Brazil and I wonder if you indicates some professional here. in relation to my health , gostaraia more information about what I should do to be healthy umavida . thanks for the space . hugs

  6. crazyhorseladycx November 3, 2015 at 9:21 pm #

    My grandson was just diagnosed with infantile spasms, he’s 3 months old. The seizures started (noticeable) at the age of 2 months. I’ve both the C & A MTHFR gene mutations, yet couldn’t convince my son to get tested. Now, all 3 of them are gettin’ genetic tests run.

    What bothers me now (after the fact..) is that their doctor in Ft. Worth, Tx says that’s not any bearing? That the mutations I have just cause strokes…. Seems there’s lots more in the medical profession that’re in dire need of more training.

  7. Bernadette July 11, 2016 at 1:21 am #

    I have just had my twin eight month old boys tested for mthfr. One of the boys has come back positive for both C677T & A1298C.

    I want to help him before too damage starts to occur eg already had first three vaccines.
    What treatment/supplements would you recommend for this age?

  8. Bernadette July 11, 2016 at 1:24 am #

    I have just had my twin eight month old boys tested for mthfr. One of the boys has come back positive for both C677T & A1298C.

    I want to help him before too damage starts to occur eg already had first three vaccines.
    What treatment/supplements would you recommend for this age?

    MTHFR Gene Mutation (C677T) : Heterozygous for the mutation
    MTHFR Gene Mutation (A1298C) : Heterozygous for the mutation

    William is the one to watch. He has a copy on both. 60 – 70% reduced function.

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