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My Story of Having the MTHFR Gene Mutation

Updated on January 24, 2017
Graphic Created by me, JackieBlock
Graphic Created by me, JackieBlock

I Have an MTHFR Gene Mutation

I had never heard of the MTHFR mutation until a almost two years ago when I lost a second child to preterm labor. I wonder how many families can be spared the loss of their children by instituting a routine screening for this not-that-uncommon mutation. A diagnosis and referral to a Perinatologist in the beginning of my pregnancy probably would have saved the lives of my son Jacob, born at 22 weeks, and my daughter Madelyn, born at 25 weeks. It is my hope that the information I have gathered here can help save someone else's child.

My Daughter was Born Too Soon, Too Small

My Daughter was Born Too Soon, Too Small
My Daughter was Born Too Soon, Too Small

What is MTHFR?

No, it's not an abbreviation for a swear word...

MTHFR is an acronym for Methylenetetrahydrofolate reductase. It is both the name of a gene, and the name of the enzyme which that gene produces. Individuals with a mutated copy of this gene produce an enzyme that is less effective at breaking down the amino-acid homocysteine. The mutation can occur at one of two sites on the gene. Since we receive two copies of each gene, one from our father and one from our mother, there are a few different possibilities for the disorder. The C667T mutation can be heterozygous, one mutated copy, or homozygous, with both genes having the mutation. The same is true for the A1298C mutation. Compound heterozygotes have a single mutation at both the C and A locations. A person with the homozygous C mutation can only produce the defective MTHFR enzyme. These individuals are at the highest risk for developing hyperhomocysteinemia - an excess of homocysteine in the blood, especially if their dietary intake of folate is low. High levels of homocysteine damage the blood vessels, leading to an increased chance of developing blood clots, which in turn elevates the risk of deep vein thrombosis, pulmonary embolism, heart attack and stroke.

My son was born healthy and full term after treating my MTHFR.
My son was born healthy and full term after treating my MTHFR.

MTHFR and Pregnancy

A MTHFR mutation may go undiagnosed until a woman has experienced several pregnancy losses. I was not diagnosed until after my second preterm labor and delivery. Some women with this mutation have trouble conceiving or have early miscarriages. In my case, after receiving the diagnosis I was treated by a Perinatologist who specializes in high-risk pregnancies. I was given Folgard, a Prenatal With DHA Vitamin and a low-dose aspirin regimen before trying to conceive and once my pregnancy was confirmed and my beta HCGs were rising I was switched from the aspirin to Innohep, a low molecular weight heparin daily injection. This therapy was a success, and I had my son full term and without complications on October 1 2010.

Child with MTHFR
Child with MTHFR

What about my child? Do I need to worry for their health?

You took the vitamins and Aspirin and Heparin, and after nine months of worrying finally have your beautiful baby. But now you wonder, "Does my child have this Mutation too?" If you have a homozygous mutation, your child got one of your bad copies of this gene. For heterozygotes, you don't know which copy was passed to your baby. But you don't need to worry (but I know you will anyway) just make sure you child's pediatrician knows of the history. Make sure you give your child a children's multivitamin daily plus a DHA supplement for kids and that will be all they need. If you have a daughter, when she decides to have a child she will need to be tested for the mutation. She will have the benefit of foreknowledge and will hopefully avoid the tragedy so many of us had to endure before we received our diagnoses.


UPDATE; I had my daughter tested through 23andme and she has one MTHFR mutation, as well as oher mutations that affect her ability to get B12. We now give her a sublingual Methylfolate/B12 tablet each morning and a second Methyl B-12 sublingual after school. I've noticed her behavior improves when she takes the suppliments.

Find if you have an MTHFR Mutation or any number of genetic conditions that may affect your health.

I had my daughter and I tested through 23andme.com this summer. I have been learning more about alternative treatments for MTHFR and knowing whether we had other mutations which combine with the health risks seemed to be the next logical step in our path to health. Since our family doctor didn't feel it was necessary to test my daughter at her age (six) this also gave us her MTHFR status. She faired much better that me on the whole, and that is a relief for me. Hopefully, she will never develop health problems related to MTHFR since we are making sure she has the nutrition she needs and avoids exposing herself to environmental toxins from pesticides, processed foods and the like.

As for me, I found that I have several more mutations that elevate my risk for heart disease and blood clots. Knowing this though, will help me take further steps to ensure that I am at my healthiest.

Can you donate Blood with an MTHFR Mutation?

I have been donating blood since high school. After I found out about my MTHFR mutation I wondered if I would still be eligible to donate blood. My daughter Madelyn required multiple transfusions during her short time with us, so I really wanted to donate in her memory. After my iron levels were back up to normal I took a trip to the local Red Cross Donation Center. I spoke with the nurse there, and she told me that I could donate whole blood as long as I wasn't taking any blood thinners, eg. heparin, lovonox, innohep. The aspirin was ok to take for donating whole blood, but not if you want to donate plasma. It feels good to donate blood, even though I end up tearing up each time, thinking about my little girl.

MTHFR and now EDS III as well, yikes!

Since I got my raw DNA data from 23andme, I found out you could run that through a program called Promethease for more health reports. I first addressed the mutations I found that were homozygous figuring those would affect me most. After those, I moved on to heterozygous mutations. One I found had been implicated in something called Ehlers Danlos Syndrome IV. After a quick google search, I learned that a lifetime of strange health issues had all been due to EDS.

So is there any good news? Every cloud has a silver lining.

Believe it or not there are some benefits to this mutation. There is a decreased risk of both colon cancer and leukemia. In fact, scientists are studying the relationship between MTHFR and cancer risk to one day develop a treatment for cancer therapy.

MTHFR Poll - What Kind of Mutant Are You?

What type of mutation do you have?

See results

Still not sure why you need to worry about Homocysteine? - Not being able to effectively get rid of Homocysteine is a real health risk.

Homocysteine: The Secret Killer
Homocysteine: The Secret Killer

Some doctors seem to downplay the dangers of having high homocysteine levels in your blood. This will inform you of the risks to your health if you don't effectively manage your condition.

 

© 2010 Jackie Block

Do you have a MTHFR Story? - Tell us what you think.

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    • imolaK profile image

      imolaK 6 years ago

      This is an interesting lens. In this days, due to several facts like radiations, polution of environment, the risk that someone will have a mutation is high.

    • profile image

      anonymous 6 years ago

      I did have two miscarriages years ago but have not been diagnosed. I understand the heart tearing, soul wrenching loss and pray all healing comes to you.

    • CoolFoto profile image

      CoolFoto 6 years ago

      You have my sympathy for your loss and I am very happy that you found the cause and a cure!

    • LissaKlar LM profile image

      LissaKlar LM 6 years ago

      Thanks for sharing your story. I never heard of this. It is important to spread the word. Great job.

    • amkatee profile image

      amkatee 6 years ago

      I will remember this if we do have another. I lost a son in May at 19 weeks. Congratulations on your boy. Thank you for sharing this info

    • JackieBlock profile image
      Author

      Jackie Block 6 years ago from SE Michigan

      @amkatee: I am very sorry for your loss.

    • darciefrench lm profile image

      darciefrench lm 6 years ago

      My heart goes out to you - thanks for this informative article that just may save others from the horror of losing babies. Squid angel blessed.

    • Bonzlee LM profile image

      Bonzlee LM 6 years ago

      Thank you for sharing your story. While neither of my children have the mutation, I do have a son with special needs. It's such a challenge to figure out these puzzles. I'm sure your lens will help others figure it out.

    • profile image

      anonymous 5 years ago

      Very helpful and useful information, hope mothers who are carrying will make a good use of it.

    • blessedmomto7 profile image

      blessedmomto7 5 years ago

      I'm so sorry for your loss. Informative lens.

    • profile image

      anonymous 5 years ago

      I'm 31 and I have learned, following a two stroke I have failed very badly that I end this homozygous mutation is the only reason found. In France, no doctor is able to explain this disease, I had to consult a hematologist. I must check my homocysteine ââand stay on aspirin and folic acid. I must not drink alcohol, soda, be careful with cholesterol, not smoking ... It's very hard to learn such a thing overnight. For now, I do not want children, and risk losing a 3rd stroke makes me too scared. Sorry for my english ;)

    • profile image

      anonymous 5 years ago

      I had 5 preterm losses between the 3 live births of my boys at around 14-17 weeks. My husband and I went in for Karyotyping which we could only do because he worked for the lab. The tests came back great. It wasn't until a week ago that we found out he tested heterozygous for the MTHFR C677 allele mutation.

      This has affected my husband's ability to deal with stress, his ability to rid his body of toxins, his ability to fight free radicals, his digestion absorption...and it could be damaging his heart and vessels. I am still finding out more. This is a breakthrough in his family and can definitely be a factor if people are having infertility issues, early heart problems, high homocysteine levels, stress they can't seem to handle, digestion issues, etc.

      People who have this anomaly can be especially prone to toxicity since their bodies cannot detoxify well and can have problems with heavy metals - particularly mercury. The more I find, the more things make sense. FINALLY! Just getting the doctors on board with me is going to be the trick!

    • profile image

      anonymous 5 years ago

      @anonymous: Found out I also have MTHFR. Tested positive for both C677 alleles. Our three surviving boys have one or two damaged alleles as well. I would love to find a doctor who is knowledgeable about how to improve quality of life. It appears we don't have any of the major problems that can come from having this anomaly, but there are still problems I would like to solve! Can't take B vitamins or 5 THF. They seem to exacerbate symptoms. Couldn't figure out why I got more tired than anyone else in sports, and now I know. It will help me educate my boys and give them good nutrition during their sporting activities. I am very concerned about how to help one of my boys, and my husband deal with stress. Homeopathics, herbs, would be more of a help than prescriptions. If anyone has a good doc, let me know!

    • KokoTravel profile image

      KokoTravel 5 years ago

      Thank you so much for educating people on this. I am certain very few people are aware of MTHFR!

      Thanks for making the time and effort and powering through, in spite of your personal loss.

    • TTMall profile image

      TTMall 5 years ago

      Great lens subject! Thanks for sharing!

    • wadsworth lm profile image

      wadsworth lm 5 years ago

      Thanks so much for sharing.

    • profile image

      happynutritionist 5 years ago

      I had never heard of this before...thank you for sharing this information, I'm sure it will be helpful to many. So thankful that you have been blessed with beautiful children and that there are supplements to help with this. *blessed*

    • profile image

      anonymous 5 years ago

      thank you so much for sharing this information i just know that i have MTHFR C667T after 2 miscarriages.

    • mary-humphrey profile image

      mary-humphrey 5 years ago

      I am affect by this disorder and it has taken its toll on my health. I have had repeated episodes of blood clots from it and it caused me to have a hard time conceiving and carrying my son. I'm sorry for your losses. I wish they would have tested you sooner to find out about this mutation. You have a lot of great information here.

    • bwet profile image

      bwet 5 years ago

      very interesting... this MTHFR gene mutation is exceedingly rare. I wish you all the best Agalova

    • JackieBlock profile image
      Author

      Jackie Block 5 years ago from SE Michigan

      @bwet: It is a lot more common than most people think! Thanks for visiting.

    • jrivera1049 profile image

      jrivera1049 4 years ago

      I was not aware of MTHFR at all, thank you for your story and for educating us on it!

    • profile image

      getpregnantaftermiscarriage 4 years ago

      In case you experienced losing the unborn baby this piece of writing will explain to you easy methods to optimally plan for your next conception after miscarriage. Even if many can't wait to get pregnant again as fast as possible it's wise that you wait around and get ready properly.

    • JackieBlock profile image
      Author

      Jackie Block 4 years ago from SE Michigan

      @getpregnantaftermiscarriage: As someone who had three pregnancies in two years, I can attest to the strain, both physically and emotionally. It is important to give your body time to heal. Your doctor can advise you on how long you should wait before trying again.

    • WriterJanis2 profile image

      WriterJanis2 4 years ago

      No, I just learned of this after reading your lens. Thanks for the info.

    • SandyMertens profile image

      Sandy Mertens 4 years ago from Frozen Tundra

      This is the first time I have heard of this. Thanks for sharing your story.

    • profile image

      anonymous 4 years ago

      I Found out That I Had Mthfr Last Year When I Lost My Daughter I Was 8mos Pregnant. She Was My First Baby.

    • JackieBlock profile image
      Author

      Jackie Block 4 years ago from SE Michigan

      @anonymous: I am sorry for your loss. My family will say a prayer for your little one and your family. I wish you luck if you decide to try again.

    • DocKetchup profile image

      DocKetchup 4 years ago

      These days people associate mutations with superpowers. Unfortunately, this isn't the case. Thanks for sharing your story. I'd never heard of this mutation until now. I hope you and you and your family are well.

    • profile image

      anonymous 4 years ago

      I'm going through ivf now, and have high nk cells and MTHFR. I'd like to be able to give back in some way, and was hoping to be able to donate eggs after we're successful with our journey. Will the MTHFR preclude me from this?

    • profile image

      anonymous 4 years ago

      I had three miscarriages...had IVF and got pregnant with twin. At 23 1/2 weeks I went into preterm labour. I lost my daughter. I was able to carry my son for an additional two weeks and he was born at 25 1/2 weeks. I just found out I am a heterozygote for C577 and A1298. I am so upset. For the author of this article did anyone every indicate why you went into preterm labor?

    • JackieBlock profile image
      Author

      Jackie Block 4 years ago from SE Michigan

      @anonymous: I am very sorry for your loss, Michelle. I, too, was upset over my diagnosis. I was seen by a perinatologist after my second preterm labor and the MTHFR was discovered. He explained that the Preterm labor was due to blood clots that formed in the small blood vessels that feed the placenta. Both my losses were due to placental abruption, caused by the clots. For my last pregnancy he put me on a blood thinner, Innohep, and I had no placental problems and carried full term. My family will keep yours in our thoughts and prayers.

    • profile image

      anonymous 4 years ago

      I had a miscarriage at 10 weeks and 3 days and Lost my baby. I found our after my D&C that my miscarriage was a result in Homozygous. My Dr. informed me I had both Homozygous and Heterozygous. She didn't specify what type or anything. My fiancé and I are trying to conceive again now that Ive gotten my first menstrual cycle and have been taking 1mg Folic acid, 2 Medinex tablets and a B6 vitamin a day. Me and my fiancé are terrified to lose another baby. Any suggestions? I lost the baby on August 27th, one day before my birthday, I went in for my first ultrasound and was told the baby had no heart beat but I had no signs of any problems, It was almost too hard to believe...

    • profile image

      anonymous 4 years ago

      I suffered a PE at age 43. I have both c677 and a1298. Unknown if they are homozygous or compound heterozygous. Both parents died. Mom at 58. Dad at 64. Lost twin sister at 41. My 6 year old son tested for c677. They say he is a carrier. I am on warfarin for life. Do I need to be on vitamin b6, b12, and folic acid as well? Will the vitamins affect the warfarin?

    • profile image

      anonymous 4 years ago

      @anonymous: Wendy

    • profile image

      anonymous 4 years ago

      First I want to say that I understand what it is to lose babies or to miscarriage, we lost five total and have six kids. I am sorry for your loss. It helped a lot to name and baptize them by desire. My story cd help many. It starts with me being an engineer and marrying an engineer. We first miscarried 4 years into our marriage; I was perhaps 2.5 months pregnant. Then when we tried to have more, we kept miscarrying. This was devastating to me, esp. since my siblings had no problem at all. It took me many years to talk about it. Then somewhere around then, with many abdominal symptoms, I went on a GF diet. When I was on this diet I was able to conceive, and the Dr. put me on progesterone. The 3rd child we had, I stopped taking the progesterone because a Vet friend scared me to death about it (But now I think itâs safe point is, we had 4 more without progesterone, and donât know if we needed it or not. At some point, stopped the GF diet, and still had kids.(Some who miscarry STOP when they go on a GF diet.)). So fast forward 22 years with our kids to today, and we discovered 5 yrs ago our youngest was a Celiac. Eventually everyone was tested for Celiac (simple blood test ask for full panel and IgA), then we found 2 more kids with Celiac, but THEY werenât the hyper ones, so we did further testing with Dr Kenneth Fine in Dallas through Entero Labs and found out other 3 were Gluten Intolerant, and 4/6 plus both parents dairy intolerant. As far as Iâm concerned, the jury is out on the two who can supposedly have dairy, as if they have NO IgA then their test cd have come back that they can have dairy when their bodies may actually be immune also to the dairy. After all, both of their parents are dairy intolerant. I believe in medical tests. Two of us also cannot have soy. Soy, dairy, and gluten are all very similar proteins, some experts say if you canât have gluten, then you sd abstain from all three. (Canât find the link on that, it was utube) So, since 5/6 kids are ADD or ADHD, we went to the ASD center in St Peters MO. We went through a battery of blood tests, including genetic. They routinely check for MTHFR and so I have it (C677T and ?? I have to find test but I am E2/E3.) and my 4th son who is C677T and A1298 (He is E2/E2), one son who is C677T homozygous (E2/E2) and my 3rd son who has none, and two daughters who also have MTHFR, both of whom are E2/E2 for broad beta vascular disease. Theytold us at ASD center, if have MTHFR, then we are poor methylators , and we are not protected from mercury. My theory is that since all of my kids were vaccinated starting year 1990, that all that mercury turned on the gene for Celiac. We also dropped and broke 2 mercury thermometers. They told us we can no longer eat tuna and that we were exposed recently. We are not sure from what, although I did figure out that plastic, and perhaps straws, and a source, I wish there were some studies to show that. They told us to take Methyl B-balance and I found that the elements in there can be purchased separately, and I tolerate the ones separate not the methyl b-balance.

      There must be a filler in there I can not tolerate. But taking these chelates the heavy metals and is like a "pre-digested form of folate", which apparently our bodies need and can't "digest" the regular folate? But, to tell you, having this I was at higher risk for having children with downs, preemies, cleft palate, spina bifida (for having the MTHFR) however, I religiously took folic acid during all my child bearing years and I also had heard that women in other countries take kelp to prevent birth defects and I took this as soon as I learned I was pregnant. I feel that things would have turned out much worse if I hadn't done those two things. Kelp powder (non-irradiated) can be put in salt shaker half and half with salt. Hope this info can help someone. We were at higher risk, but I took the folic acid preventatively, and all our children were free from those things. I am most concerned about son #3 who is C677T double and he is very sedentary and that apparently goes along with it, or can. He doesnât seem to have desire to do anything, and has not really had any passions in his life. Also what goes along with this is no executive functioning skills, which he has an IEP for, but it is really difficult. Any insight wd be appreciated.

    • JuneNash profile image

      June Nash 4 years ago

      I had my dna tested with 23andMe. That is how I found out that I have a MTHFR mutation. Thank you for posting the link to the 23andMe sight.

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      anonymous 3 years ago

      Its nice and great as visit really want to appreciate you.

    • elayne001 profile image

      Elayne 2 years ago from Rocky Mountains

      I just found out I have the MTHFR mutation - heterozygous A1298C and have had a lifetime of symptoms including anxiety, depression, insomnia and very difficult births of my four children. I did have one miscarriage, but it was very early in the pregnancy. My two sisters have suffered from the same type of symptoms as mine. I suggested they have the blood test. I am anxiously awaiting their results. I hope more people are becoming aware of this mutation. I am taking Deplin and feel better on it. Too bad I didn't learn about this until I was in my 60s.

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