What is your MTHFR Story? Write It. Share It.

We all learned about MTHFR mutations one way or another.

The path we took to become aware of MTHFR mutations and how we handle them needs to be shared.

I am inviting you to write your story about MTHFR and I will make it a dedicated blog post right here on MTHFR.Net.

It is important you do this as others are suffering with MTHFR and are lacking the knowledge, experience and they need to read stories of people, just like you, who have been diagnosed with MTHFR mutations.

Simply send in your story on MTHFR. They are powerful to read and enjoyable.

If you are having writer’s block and not sure where to start…

Here are some guide posts (not set in stone) to help you write your story on MTHFR:

  1. Why were you tested for MTHFR?
  2. What were your initial feelings after being diagnosed with the MTHFR mutation?
  3. Which MTHFR mutations do you have?
  4. Did your doctor know what to do? If so, who is the doctor? Name the clinic and location.
  5. If you are feeling better, what are you doing?
  6. Have your family members tested for MTHFR mutations? If so, what was found?
  7. What do you think is most important for people to know about MTHFR mutations?
  8. Closing thoughts
  9. Brief bio: Name (if you want to use it, otherwise use an alias), age, location
How to send in your story on MTHFR:
  1. Write it without stopping – just write. Don’t edit anything.
  2. Go back and edit.
  3. Go to the Contact page here at MTHFR.Net
  4. For the Subject, enter: MTHFR Story
  5. Copy your entire article and paste it into the ‘Your Message’ box on the Contact Us page.
  6. I will be notified of your submission and create a blog post for you.

I look forward to widening our community here at MTHFR.Net

I look forward to reading comments left by others once you submit your story.

You will soon see the positive impact it has.

Please get the word out on this. Please Share, Tweet, LIKE, Email and tell your friends and colleagues about this opportunity to get their story out there.

Begin writing your story! 🙂

60 Responses to “What is your MTHFR Story? Write It. Share It.”

  1. Gayatri February 24, 2014 at 12:54 am #

    Dear Dr. Ben,

    I have a 4 year old, who is still nonverbal and on the autism spectrum. After running from pillar to post to get to the bottom of his challenges, I learned about genetic mutations and ordered a 23-and-me test on him, and convinced my neurologist to do a spinal tap on him to determine if he had cerebral folate deficiency or not. The results of the spinal tap revealed a methyl folate level of 67 nmols / l, which we were told is “normal”. The results of the 23-and-me tests revealed the following mutations :

    Homozygous :

    CBS A13637G
    FOLR2
    MTHFD1 G1958A
    MTHFR (LOC100506310)
    MTRR A66G
    SOD3

    Heterozygous mutations :

    ACE Del16
    BHMT R239Q
    BHMT-08
    BHMT-02
    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

    I am dazed and overwhelmed. Any advise / help from you on how to help my little boy would be gratefully accepted. Thank you !

    – Gayatri

    • Dr Lynch February 24, 2014 at 9:50 pm #

      Gayatri –

      It is more than just identifying methylfolate levels in the CNS. There also may be folate receptor antibodies on the brain which reduces the methylfolate from binding to the receptor. Your son also has folate receptor snps – which may also reduce the binding of methylfolate.

      I highly recommend a completely dairy free diet – all dairy excluded – and gluten. 100% compliance.

      Antibodies against the folate receptors may be caused from dairy products – and I also believe – and know – that gluten is a big issue.

      Many things cause non-verbal activity –
      – low creatine
      – low B12
      – heavy metals
      – low essential fatty acids
      – low phosphatidylcholine
      – high oxidative stress
      – low biopterin

      Please work with a doctor found on this list

  2. Gayatri February 25, 2014 at 9:03 am #

    Thank you so very much for responding, Dr. Lynch. I was really upset by the fact that he is homozygous for FOLR2. Is it possible for us to consult with you ? Please let me know. I am leaving my email address with my comment.

    • Dr Lynch February 25, 2014 at 8:06 pm #

      Gayatri –

      I no longer do consults – too busy educating doctors at this point. I do have a recording from my last 2 day conference on Methylation and Nutrigenomics at http://www.seekinghealth.net – you may also learn quite a bit from here.

      Keep in mind that just because one has a SNP for a specific gene does not always mean it is a problem. There are also different degrees of severity in a SNP – so do check the rsID for the specific FOLR snp your son has – it may not be serious at all or it may be somewhat.

      Again – CSF levels of methylfolate don’t say much. The binding to receptors and transport needs to happen.

      We do offer a liposomal methylfolate for situations in which one has reduced folate transport and receptors. My theory is if it is liposomal, the delivery of the nutrient will partially make it into the cell on its own – without need for transport or receptor binding.

      I designed a liposomal B12 with L-5-MTHF and also a pure liposomal L-5-MTHF.

      Again – many reasons for speech delay. I encourage you to find a doc from the reference list I sent you above.

  3. David December 31, 2014 at 7:47 am #

    Hi, great work. What do you know with this combo?
    All these are homozygous:

    VDR Taq rs731236
    MTHFR C677T rs1801133
    MTRR-11 A664A rs1802059
    BHMT-02 rs567754
    BHMT-04 rs617219
    BHMT-08 rs651852
    AGT M235T/C4072T rs699
    COMT rs6269
    FOLR2 rs651933
    MTHFD1 G1958A rs2236225
    MTHFD1L rs6922269
    SLC19A1 rs1888530
    TCN2 C766G rs1801198

    Since my COMT rs6269 is +/+, can I tolerate the methyl I need?

  4. deb wilkin February 15, 2015 at 7:48 pm #

    My sister is homozygous for SNPs in genes that code for MTHFR (MTHFR C677T), BHMT-08, CBS C699T, CBS A360A. She is heterozygous VDR Bsm, VDR Taq , MAO-A R297R, MTRR A66G, MTRR A664A.

    I probably have similar genotype and sure explains my lifelong symptoms. My sister Patty has what we thought was “early onset” Alzheimer’s- starting around 50 yrs. and has disabled her at 60yrs (she’s 61 now). She is a strange bird- very brilliant but emotionally unstable- we always thought there must be a schizophrenia gene in the bloodline- but now I know what was going on all those years- so sad. I wish my mother was alive so I could tell her I figured it out. I recently brought her from her home state to live with me and my family across the country. She was just dx’s with mag anemia- no surprise.

    My 3 children (2 boys on girl) are all on the ASD scale- very high IQ’s (my father and their father have 150 IQ ranges as do they- I follow Simon Baron-Cohen’s work)- I think my husband is also ASD. So, we are a genetic mess. I am having my children tested this month and then myself thru 23and Me.

    My daughter is 5 weeks pregnant and was dx’d with low iron and D back in September 2014. I’m assuming the best scenario is she only has one allele of MTHFR but she probably has two based on symptomology. She gets the red cheek thing when she eats onions or garlic- so I am assuming there is something else going on- since she can’t eat any sulfur- I’m afraid to start her on supplements when she’s pregnant but don’t know what to do to get her homocysteine levels down (she will have those tested).

    Do you have any advice about my pregnant daughter ? and
    Do you know of a website where I can download my sisters genotype and get more interpretation so I know how to treat her?

    thank you so much,
    deb wilkin

  5. Alice Courtney April 28, 2015 at 7:00 pm #

    I had a blood test which showed I had two mutations in MTHFR,c677t anda1298c. I have been taking the methylated form of folic acid and B12. I have recently been diagnosed with some kind of deterioration of the connection between the brain and spinal column. The doctor said it is a movement disorder which is progressive and that, eventually, medicine will no longer help. He said that it is a new condition and that they are finding new things about it, thus, facts are still evolving. Could this have anything to do with the MTHFR mutations? I also have RLS and PLMD. The PLMD symptoms occur in the daytime also, as well as benign essential tremor symptoms. Also, my body does a very poor job of breathing when I am asleep. I have to use a bipap along with oxygen at night. Anything you can do to help me would be appreciated.

  6. Lisa July 18, 2015 at 3:54 am #

    My journey has been long and exhausting.

    For the past decade I have struggled with pregnancy. 10 miscarriages, and 2 years of back to back IVF later, I am 15 weeks pregnant.

    Am documenting my full story online at my blog, included in the website field above.

    5-methylfolate has been a life saver.

  7. Aaron Deyo July 20, 2016 at 3:31 pm #

    Three months ago I found out that I am homozygous for the a1298c MTHFR mutation. I am 22 years old with no history of mental issues until now. I am confused because the literature says this form is not as severe, however I suffer every day from occipital skull tightness and facial numbness as well as balance issues (feels like I’m walking on a cruise ship) and a slight vision difference (right eye has blurrier and darker far sighted vision). I try to brush off these symptoms, but it is hard when this is your line of thinking now. At times I will get worked up about it, so I may be developing some related anxiety. Either way, my neurologist has got me taking an MTHFR formula with 0.8mg 5-MTHF, 2 mg methylcobalamin, 25 mg pyridoxal-5-phosphate, 5 mg NADH, 150 mg co-q, lipoic acid, n-acetylcysteine, and vitamin D. This cocktail is 60 dollars per month and has not seemed to work thus far after almost two months of taking them. My neurologist suggested Deplin (15 mg of methylfolate) to boost my mood and ensure methylfolate would reach my brain, but I am skeptical over the high dosage. He said no side effects are associated with the medical food, but I am still unsure. How do you feel about the MTHFR formula I am taking? Is Deplin a good idea or bad idea? Lastly, what other suggestions do you have for treatment? I take a multivitamin already that contains all of my essential nutrients–in addition to other B-vitamins like niacin, riboflavin, etc.

    Finally, I tested positive some time ago for low levels of GAD antibodies. My neurologist said that the best treatment is benzodiazepines like Valium, however I am very tentative toward exploring this route. I would much rather attempt to clear my symptoms through the MTHFR route. Thank you for your response!

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