Read this First!

Welcome to MTHFR.Net.

You are here at MTHFR.Net because you are in need of help or someone is.

You’re in the right place. Truly.

Dr Ben Lynch, me, is very passionate about getting MTHFR into the media and increasing awareness of this very serious gene mutation.

If your doctor or loved ones are not taking you seriously on your MTHFR mutation, I am.

Let me say one thing and hear me clearly:

Knowing if you or a loved one has the MTHFR mutation is a blessing. It is not bad news. It is very positive.

Why??

Because knowing you have it means you can do something about it!

Let’s get to doing something about it.

In order to get the most out of MTHFR.Net, please do two things first:

  1. Share Your Story on MTHFR.Net - contribute and share your story. In order to increase awareness of MTHFR mutations, we need to demonstrate that many are in need of support with MTHFR and the seriousness of it. The more you share, the better. You will not be judged here – only supported. Please do share your support for others as well by commenting.
  2. Take the MTHFR Survey – provide specifics for Dr Lynch. Again, the more information you provide, the better Dr Lynch can serve you.

Now that you’ve shared your MTHFR story and have taken the survey (Thank you! :) ), let’s provide some information for you on MTHFR in guided fashion.

Here are articles I’ve written which you should read in order from #1 on down.

  1. What is MTHFR?
  2. Conditions Relating to MTHFR Mutations
  3. Screening for MTHFR (most relevant to health professionals)
  4. MTHFR Testing
  5. Additional Lab Testing to Identify Imbalances
  6. Methylfolate: Taking Too Much a Problem?
  7. Methylfolate Side Effects
  8. MTHFR C677T Mutations: General Protocol
  9. Prenatal Supplementation with MTHFR
  10. Normal Levels of Homocysteine and MTHFR
  11. Questions about the MTHFR mutation? Ask Here.
  12. Find a Doctor who may know about MTHFR

Continue to check back often as I am continually updating MTHFR.Net with more resources and information.

Want to dig into the research? Visit the MTHFR Research page which is continually updated

Expand Your Knowledge in Health: View Recommended Books and DVD’s

Be sure to LIKE my Facebook page as I interact often there.

Be sure to sign up to receive my free newsletter on MTHFR issues. I do not spam. Ever.

Look forward to getting MTHFR on the map and helping you get the information you need – and the health you deserve.

,

32 Responses to “Read this First!”

  1. Christine Q February 10, 2012 at 6:19 pm # Reply

    I’m in my early 40′s have 1 healthy 15 yr.old and had 5 miscarriages after my healthy child. I tested positive for inherited Thrombophilia with MTHFR. I am heterozygous. Dr. Alan Beer,who has since passed away did the tests. At his suggestion other family members were tested. My father,brother, sister and my son are allpositive for hterozygous inherited thrombophilia. I was told to just take a folic acid supplement and a baby aspirin as a result for my long term health. What should me and my family particularly my son be taking as daily supplements for optimal health considering this? We have given up trying for anymore children after the standard Lovenox/babyaspirin/additional folic acid approach. My last physical showed I was a little high for B12. We’re not trying to get pregnant anymore. I take a Super b complex supplement just b/c of the inherited Thrombophilia mthfr issue.Again knowing we have this, what vitamins and supplements should we be taking on a daily basis for optimal health and is there anything out there in the way of vitamins/supplements we should be avoiding. I apologize for any typos this was sent from my smart phone.

  2. Denise Dodd February 14, 2012 at 5:53 pm # Reply

    Hi my name is Denise i am 37 yrs old. I have had 28 miscarages, one live birth she is now 12 yrs old. The pragancies end around 9 to 12 wks. So right after i find out i am pregant i lose the baby. It has been really hard emotional and physically. My sister also has this problem she was tested and with blood thiners was able to have 4 wonderful kids.she had i believe 18 miscarages total. I only have state ins. they would not allow me to be tested. so i have went on with my life. Then on Dec. 3rd 2011 I had a stroke. I do not have high blood pressure, My sister told the doctors but they weren’t really listening, but I was scared so i had my daughters doctor run the test on her and sure enough she has it also. So now I am tring to get my doctors to run test on me. I have been looking online trying to answer some questions, thanks to you i finally found some. Some that i didn’t know to ask, like the antacid, I have always had bad stomach probles Thank you for this website i hope to learn a lot more, and i told my sister about it also.

  3. Amy July 26, 2012 at 8:38 pm # Reply

    Hello, Im 28 and have had two miscarriages. #1 jan 13,2010, #2 July 11, 2012. These have been my only pregnancies. During my first m/c I bleed a lot, and after my emergency d&c I was given two blood transfusions. I recovered quickly and My husband and I started trying right away. 29 cycles later, while on clomid (because I was diagnosed with anovulation) I got my BFP. I went to the dr at 4w4d for first u/s. I was then informed that I have a bicornuate uterus. i was scared. I miscarried at 7w2d. At my follow up appt with OB, blood work was ordered and an MRI. The MRI showed a true bicornuate uterus. Bloodwork showed boderline diabetes (on a new diet hope to loose 25-30 lbs), low progesterone, clotting disorder(??there were clots found beweent placenta and uterus, I believe), and lastly, a gene mutation. The MTHFR gene. My dr said its because of the mutated gene that I have have miscarriages. Now, the first Ob I saw said due to the gene and my uterus, conception will be a hurdle that i may never overcome. Obviously I sought out a second opinion. My new OB, said yes you have a mutation and your uterus is shaped different. So what, you will have a baby. I dont mean she didnt care, I mean she thinks I can have a baby. She has been so understanding and compassionate. She wants me to give clomid another try. It was originally prescribe for ovulation, but since I was able to get pregnant she thinks its worth another try. I have been put on 100mg of clomid, high prenatal(??), and high folic acid. I did ask about the Strassman operation, but she does not recommend it for me. Well at least not right now. She explained to me that she does have patients with a bicornuate uterus who carry to term but need a c-section because baby is breech. So she doesnt think that is the real reason for my previous m/c(miscarriage). It has been has been 15 days since my d&c, I stopped bleeding after 5 days (probably because suction was used to clear both horns) and I have been using OPK’s to catch LH surge, nothing yet. So I dont know what cd I am on. Or when I should start to count. I think I am going to wait until my period starts again. I am very concerned about the mutated gene. Is there a protocol in place for this? Will I ever be able to carry a baby to term? Are there statistics about this? Should I push for the Strassman operation? Any advice would be much appriciated. Thank you for your time.

    ~Amy

  4. Stefanie July 31, 2012 at 2:10 am # Reply

    Hi, I am desperate. I have the MTHFR mutation and began taking Deplin 15mg. about 7 weeks ago. I slowly started to get sick. I began getting nauseated and vomiting. I quit Deplin about 1 week ago but still am not better. I am very slowly feeling less nauseated and I don’t vomit everyday. I do take Niacin. What else can I do and what is going on. I have had many tests and everything shows I am healthy so I am sure it is from the Deplin. I am desperate. I have been in bed for 5 weeks. I have a family and just got my teaching credential. Now I have had to turn down teaching positions because I can’t get better. Please help me!

  5. Louise January 9, 2013 at 6:40 pm # Reply

    Hi Dr. Ben,

    I am grateful for all of your work and the advice on your site. I really need your help because I’m at my last resort – I’ve had the most heartbreaking year and 3 months of trying to get pregnant, at least 3 miscarriages, a lot of tears and no answers.

    I am 38 years old. My husband and I have had at least 3 recorded miscarriages. I say “at least” because they are all very early miscarriages (between 4-6 weeks) with positive tests confirmed by doctors, and then the pregnancies “disappear”. There are other times I’ve seen what appeared to be a positive pregnancy test fade away in the coming days, too, so there may have been more.

    My recent blood work tested positive for three things:
    - positive for one copy of the A1298c mutation
    - positive ANA screen, IFA (with antibody level at 1:80 in a homogenous pattern; and also thyroid peroxidase AB >1000 outside of the “normal” range of less than 35)
    - a high TSH (at 7.51 in a “normal” range of 0.40-4.50)

    I also had a few other out of range elements on my blood work:
    - blood in urinalysis: 2+
    - RBC in urinalysis 4-10H (outside a “normal” range of 0-3)
    - on the CBC, a red blood cell count at 3.70 (outside a “normal” range of 3.80-5.10) and MCH at 33.1 (outside a “normal” range of 27-33)

    The Factor V Leiden mutation was not detected.

    I’ve seen an obgyn, a PCP, a rheumatologist, and endocrinologist and two reproductive endocrinologists (fertility specialists). I am making an appointment with a hematologist.

    They have diagnosed me with Autoimmune Thyroidits and gave me Levothyroxine, 100mcg daily. I asked them all about miscarriages and ANA and MTHFR and nobody seems to know where to point me but I am currently taking the following things:
    - 1 baby aspiring daily
    - 2x FABB daily
    - 1 Neva Select prenatal
    - 100mcg of Levothyroxine

    The fertility specialists are recommending IVF, and we have to pay out of pocket at about $15,000 a try so we can’t afford too many tries.

    Early on, the fertility doctor detected a discharge from my breast. He tested prolactin levels, which were normal, so he ruled out a tumor without doing an MRI. Because of this, he presumed I might have a luteal phase defect but every time they tested me I looked normal so it seems that was not it and plus they put me on Endometrin anyway so that should have taken care of it.

    Can you tell me if we need to be doing something different? For instance, should I be taking a different form of Folic acid than Fabb? Can MTHFR cause ANA or is there any link between these issues?

    I know you are not taking new consults… can you recommend someone locally in Northern Virginia?

    Thanks in advance for your advice. I felt so alone with all this until I started reading your site.

  6. Stephanie January 17, 2013 at 4:37 am # Reply

    I am 24 years old. I recently had a miscarriage and since I am a seemingly healthy individual, my doctor tested me and found that I have the c677 gene mutation. Apparently this mutation may have been related to the fact that I had a miscarriage and my doctor has put me on 1000 mcg methyl folate daily. I have been told to wait to keep trying to have a baby for a few months so while I’m in this limbo stage of my life I have been researching this new side of myself. I hope to learn a lot from this website and have the best chance possible at a healthy pregnancy the next time we are blessed and conceive.

  7. Jessica March 3, 2013 at 3:10 pm # Reply

    My questions is about the HCG diet and how it relates to MTHFR. Do you have any concerns about starting this diet and having MTHFR mutations?

  8. kim roush August 27, 2013 at 1:28 pm # Reply

    I just picked up a prescription of http://www.midlothianlabs.com/item.cfm?productid=74
    Is this a legit form of methylfolate. I was taking the Seeking Health and felt great. Now I feel like crap. I thought I read that there is not a generic prescription form of methylfolate. Both of my A1298C genes have mutations. The same is true for both of my sisters, one of which as two children with spina bifida. Thank you for your website.

    • Dr Lynch August 27, 2013 at 7:02 pm # Reply

      Hi Kim –

      You likely are taking too much.

      This product you mentioned has 15 mg of methylfolate per serving vs 400 mcg up to 1 mg of Seeking Health’s l-methylfolate.

      As often recommended, evaluate the dose you are taking with your doctor and adjust as stated by them.

      Niacin as nicotinic acid is typically quite successful at reducing methylfolate side effects.

      • kim August 28, 2013 at 2:56 am # Reply

        Hi,

        Thank you for your response. I am planning on cutting the 15mg in fourths and taking only 7.5 mg a day (half of it in the morning and half in the afternoon). I was using your product and having great results. This is just cheaper. Do you see any differences in the effectiveness of the pill because it is a generic.

        Also, is 7.5 mg way too much as well? I thought I read that is about the normal or average amount per day.

        Thank you again for your time.

        Kim

        • Alicia July 12, 2014 at 11:34 am # Reply

          The amount you are suggesting to take is 7 times more than what Dr. Lynch is suggesting you take. I think it is a huge difference.
          Much time has passed since your last post, did you experience overmethylation at 7ml? Just wondering…

  9. Beth Dabit September 1, 2013 at 7:19 pm # Reply

    Dr. Lynch, two of my sisters an one of my nephews have tested positive for the mutation.
    I have suffered hypertension since I was 15 years old, FM for 20 years, and occasional brain fog. I am 60 years old now. I just ordered a test from 23 & me, am glad to have found your website! Thank you – Beth

  10. Edie Vickers September 16, 2013 at 6:11 pm # Reply

    HI
    I have a patient who is 677 hetero, CBS hetero, BHMT homo, Comp hetero, MAO A hetero. we are slowly working with environment, great diet, gut balance (this has been for years), adrenal and thyroid support, mitochondrial support…but her energy remains very low and brain fog is severe..I am wondering if we should do more testing. What is the best test for Ammonia, and sulphites? We have done many taps, CDSA, Metabolic analysis..
    Thanks Edie Vickers ND LAc

  11. Joanna January 29, 2014 at 3:15 am # Reply

    I’m scheduled to see my endocrinologist on April 29 and was wondering if MTHFR is something that I should discuss with him as do not currently have a physician that monitors it. I see the Endo due to low vit d, and an issue with my parathyroid (it robs calcium from my bones) so i take potassium and calcium to balance things out. If I don’t take the potassium and calcium i have sever bone pain. I have two mutations that i know of A1298C and C677T. My Endocrinologist is also trying to help me get control of my weight as this has been a struggle for me since my hysterectomy. I have went from being 125 lbs up to 213 lbs over the last 12 years and can’t seem to get it under control. I’ve gained 10lbs just since the beginning of the year! :(

  12. Jessie January 30, 2014 at 2:33 pm # Reply

    My son is compound heterozygous. He takes zinc and magnesium, and I’ve just introduced B6. When he takes B6, he seems to overmethylate (i.e., he acts the same way he did on Deplin, b12, hydroxy b12, and 5MTHF ). HIs integrative doc wants him on B6 to help with the magnesium, and he wants me to start L-thiamine. Any tips on why he can’t tolerate B6 and whether I’ll see a similar rejection with L-thiamine?

    Thank you!

  13. simone January 31, 2014 at 3:14 am # Reply

    Hi there,
    Just had a thought regarding miscarriage and links with MTHFR. I understand that low active methylated folate can lead to low cellular division which is needed for an egg to develop properly and it also needed for DNA to RNA replication in the cells – this could be a factor in recurrent miscarriage along with the higher risk of chromosomal/neural defects. However, I also thought that a low production of nitrous oxide would also affect circulation to the uterus possibly causing thin uterine lining, which can also affect implantation of an egg. This may be causing a triple whammy detrimental affect on pregnancy (along with any clotting issues – a quadruple whammy !). I know that taking higher doses of Arginine can increase the uterine lining (by production of nitrous oxide), so I wonder if bypassing the MTHFR defect pathway, women’s uterine linings may improve in oxygenated blood and also the amount/quality of lining? It would make sense also because most losses are very early which may mean the eggs are not successfully fully implanting. I personally have a thin lining and have done so for the past few years (not knowing I had the homozygous C677T defect) and have noticed improvement since taking the methylated folate and B12.

    What do you think about this theory Dr Lynch?

  14. Louise June 15, 2014 at 9:36 pm # Reply

    Your survey does not work – the part which asks reasons to be tested I clicked on that to put fatigue as number 1 and it assigns numbers 1-17 in order down the page and I am unable to edit. I really want to help and do the survey, but this is very frustrating.

  15. Linda Mason August 11, 2014 at 5:29 am # Reply

    I have not had a test for MTHFR. I can ask my doctor but he will probably say no. It will be hard for me to spend 150 for it since I live on social security. My question is. I have normal folic acid on blood work. Would I have low folic acid if I had MTHFR? I have low b-12, low D, Rhumetoid arthritis, my low be is from Pernicious anemia. I have inner ear problem where i have lost all balance function they think from a viral thing but have been told numerous reasons. I a

  16. Linda Mason August 11, 2014 at 5:39 am # Reply

    I have not had a test for MTHFR. I can ask my doctor but he will probably say no. It will be hard for me to spend 150 for it since I live on social security. My question is. I have normal folic acid on blood work. Would I have low folic acid if I had MTHFR? I have low b-12, low D, Rhumetoid arthritis, my low be is from Pernicious anemia. I have inner ear problem where i have lost all balance function they think from a viral thing but have been told numerous reasons. I had a genetic test for celiac disease and showed I had 2 genetic things but on blood test for celiac through my doctor said no antibodies. I had 1 miscarriage in 1982 then my 1st son was born 6 week early and my second son I started bleeding around 4 month pregnant and on bed rest for the rest of pregnancy couldn’t get out of bed except to shower and go to bathroom. He was full term basically about 3 weeks early. I have all over body pain and have been to emergency room for pain from sciatica and my bowels constricting with pain. Have been told it probably from arthritis. One thing that is very difficult is my vision. I just lose my vision in that I will start seeing double like the muscles in my eyes stop functioning. But am told it from the inner ear problem. I use to have migraines all the time but not so much in my older age. I am curious if having normal folic acid in common if you have mthfr and I have hi homoscytene on blood work was told it had to do with cholesterol. Is the testing for homoscytene connected with cholesterol the same kind referred to reading about Mthfr? I have my kind of high homoscytene a symptom of Mthfr.

  17. Amy August 12, 2014 at 7:13 pm # Reply

    I just found out that I have heterozygous 1298 and 677. What do I need to know and how can I improve this condition?

  18. Miss Micah August 18, 2014 at 10:57 pm # Reply

    I was just diagnosed with compound heterozygous mutations for the MTHFR genotypes c677t and a1298c. My mother was also tested and will receive her results in a month. I am so excited to have my diagnosis as I firmly believe all of my diagnosed diseases should not exist together. I have long QT syndrome with my highest QTc over 605 ms, mitral valve prolapse with regurgitation and bi-leaflet prolapse, Postural Orthostatic Tachycardia, and Neurocardiogenic syncope, chronic hypokalemia, severe vitamin d deficiency (5.2 was my lowest number on a 25 OH Vitamin D test.) Over the past two years, my symptoms have become progressive with multiple runs to the emergency room for hypokalemia and tachycardia and I have lost the life that I was content with leading. After my dx through CompanionDX and my cardiologist who is a researcher and writes prolifically on neurotransmitters, I was put on Metanx, once daily. I feel better than I have ever felt in my life as I have had moderate mitral valve symptoms since age 4. I have not known what it’s like to have a “normal” life or to ever feel “good.” Thank you for such a valuable resource. I now suspect that my excess of adrenaline which was causing my hypokalemia is starting to be balanced by a greater production of my noradrenaline through the regulation of the methylation process. The only way I can describe it is “my cells just feel like they’re working better. My cardiovascular, vascular, digestive, and neurological systems simply feel like they work now instead of being consistently dysfunctional as they were pre-diagnosis. I will certainly be considering the Homocystex if my doctor later deems that I don’t need it anymore. I have so much energy I don’t know what to do with it. Just wanted to share that an mthfr diagnosis has changed my life!

  19. Jean August 20, 2014 at 1:57 am # Reply

    Dr. Lynch,
    I have recently been diagnosed with a mutation in both C677T and A1298C. This diagnosis has answered a lot of the issues I have dealt with over the last 50+ years and that many doctors have not been able to explain before now. I have dealt with depression since my teens, multiple miscarriages, low thyroid, low immune system and inflammation. It has been a consistent problem. I’ve been diagnosed with almost everything under the sun but, until now none of it was understood as one problem – a gene mutation.
    I realize now (towards the end of my 50′s) that it isn’t all in my head. I have been liberated. Although the problem can’t “be fixed” I now have information to work with and can adjust my lifestyle to improve the way I feel and the quality (and quantity) of my life.
    I have also learned over the last few decades that most doctors won’t find the answer – we have to be our own advocates to find the answers.
    I’m glad to have this information. I wanted to laugh and cry at the same time as I was reading the symptoms. Thank God I now know. It’s like the final piece of a puzzle that finally fit.

  20. Kim McDonnel September 2, 2014 at 12:05 am # Reply

    My 12 year old daughter recently tested positive for C677&1298 mutations. This answers a 12 year lifespan of unanswered questions and illness. Not to mention brings into question my own health struggles.
    My daughter was born diabetic. It lasted 2 days till they finally let me have her long enough to breast feed her successfully. By 12 weeks old she was running unexplained fevers with low grade temps. We started seeing patterns of monthly fevers that started as described above and lasted 7 days reaching peeks of 106 degrees Fahrenheit. Her white cell count would be elevated prompting antibiotic use. After years of this coupled with breathing treatments of Zofran and bottles of Tylenol and Motrin my Pediatrician finally referred me to an infectious disease Dr. After months of testing and questions we were given the diagnosis of PFAPA by age 5. No cure, no treatment to speak of so I used my own knowledge of holistic health. She grew out of the fevers but somehow never the syndrome of just not feeling well, pale face, achy, and moody. Lots of soar throats, sinus issues, and strep.
    A year ago I started doing Biofeedback scans on her and discovered asthma. She was prescribed a Dulera inhaler. I started her on several supplements, changed her diet, got rid of carpet, placed an air purifier in her room, and hoped this was the answer.
    About a month ago after going on vacation and not following a gluten/wheat free diet she got sick. She was pale and yellow, having allergic looking hives and difficulty breathing, low grade fever and exhaustion. I did an emergency Biofeedback scan and was told by Tonya at Knoxville wellness center I should test for MTHFR. She believed that from the two previous scans over the last year and the one she just performed that Kiley had both C677&1298 mutations. She was correct. She also believes I have one of the mutations. I’m going to be tested soon.
    She has given us a lifestyle protocol to follow and asked for us to get more blood work. She mentioned Deplin as a possible RX and will be scanning for supplements after blood work.
    My biggest problem has been finding a local Dr. who even knows what this mutation is and what to do about it. My own Father, an OBGYN, had limited knowledge and has been taking a reactive approach with his own patients after multiple miscarriages. I wanted to help my daughter now not after a miscarriage or worse.
    Thank you for having the courage to find an answer for so many questions. So many of us are getting labeled with in curable diseases and given RX Meds to suppress our symptoms. I am spreading the word through my own website and blog. Knowledge is power!

  21. Ric October 25, 2014 at 3:45 pm # Reply

    My Doctor is giving me a shot of the following: methyl tetrahydrafolate, methyl b12 and b complex. I am heterozygous c677t. I am starting off slow with this shot and will increase over time and then to supplements.

    In my reading on your web site, I haven’t read any information about methyl tetrahydrafolate. What is your opinion of treating my mutation?

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