Wednesday, July 18, 2012

The MTHFR Gene Mutation

A couple days ago I received a call from the specialist's office, and they told me that my MTHFR test results were back. I have what is called a compound heterozygous mutation in my MTHFR gene. Though it looks like a text-speak derogatory remark, MTHFR stands for methylenetetrahydrofolate reductase. When I asked what my diagnosis meant for future pregnancies, they told me that if I changed nothing, I'd have a 1 in 25 chance of this happening again. They said if I take 5mg of folic acid, that I would have a 1 in 50 chance of this happening again, and if I take the 5 mg of folic acid, plus a prescription called Methanx, that I would have a 1 in 100 chance of this happening again. A "normal" person is said to have a 1 in 1000 chance of this happening. I cried after learning all this. However, the more I've researched the mutation that I have, the more in control I feel, and the more I question if the numbers the doctor's office gave are fully accurate. I'm actually very curious as to where their numbers came from, and I plan on asking the next time I speak with them. I also don't think their "solution" is the only solution or the best solution that is out there for this.

In a nutshell, there are approximately 20,000 "base pairs" to the MTHFR gene, and each base pair has two DNA nucleotides, one from each parent. The purpose of the MTHFR gene is to produce the MTHFR enzyme, and when one or more of the base pairs are mutated, this enzyme comes out distorted. The enzyme is supposed to be perfect, and is sort of like a key; when it is perfect, it does exactly what it is supposed to do, and there is no issue, but when it isn't perfect, the key won't unlock the lock it was meant to, and so then there are problems. I've learned that the MTHFR gene and enzyme's importance reaches far past pregnancies - it can affect a person's whole life and MTHFR mutations are linked to multiple health issues.

The process of what the MTHFR enzyme does is pretty complicated, and I don't even know how to explain it properly, but if you want to read more specifics, you can read them here. The way I understand it, and how it was explained to me, is having these mutations affects my body's ability to take folic acid and convert it to the active form of folate that my body can use. Folic acid, in a normal dose, is useless to my body, and in high dose, possibly harmful. This also means that the cereal, pasta, etc. that is "fortified" with folic acid also doesn't help my body get the folate it needs. Some sources have mentioned that my body might not even use the active folate in a totally effective manner, especially if the folic acid has built up in my blood is and is hindering my absorption of it. This puts me at a higher risk than a "normal" person for neural tube defects (among other things), but I definitely need to research some more to understand all this, and I don't think I'll ever really understand it all. 

What I do know, is in the meantime, I plan to to help get my body back on track, prepare for future pregnancies, and increase my general health by doing the following:

1.  Talk to my doctor about getting my homocysteine levels checked - it isn't something that the specialist did, but it's something I feel that should be done, because having elevated levels puts me at an increased risk for heart attacks, strokes, and blood clots, which also puts me at a higher risk of miscarriage due to blood clots in the baby, placenta, or uterus. To remedy this, most women take baby aspirin, and some have to take blood thinner injections throughout pregnancy. I don't think I have any blood clotting issues yet, but it's definitely something to be on the look out for. The specialist's office told me they didn't check these levels because I'm "too young" to have the blood clotting risk - but I know this isn't true - less likely, yes, but there is still that risk factor.
2. Talk to my doctor about checking for a gluten intolerance. It's very common in people with MTHFR mutations. 
3. Talk to my doctor about getting my B vitamin levels checked to see if I need to also be supplementing B6.
4. Start taking methyl B-12 sublingually, 2-4  mg a day (this has to be taken for the methlyfolate to be able to be more effective)
5. Look into topical methyl B-12 and adjust my sublingual dose once I start using it
6. Start taking L-methylfolate (metafolin), starting with a 1.25 mg dose (cutting a 5mg tablet in quarters said tablets are actually capsules...way to go inaccurate online descriptions! Ugh. So, going to be dividing powder (roughly) in thirds and pouring into my own little capsules left over from when I encapsulated my placenta with my first daughter.)
7. Start taking vitamin D each day, also with daily sun exposure
8. Stop taking my prenatal with folic acid in it.
9. Start taking probiotic capsules.
10. Continue taking my vitamin C gummies, 240mg daily (at least an hour away from the B vitamins though)
11. Start taking a Calcium-Magnesium supplement instead of the calcium gummies I'm taking now.
12. Start taking fish oil again (I used to take it and just stopped for some reason, but the EPA/DHA would be good for me to start taking again.)

I think for now, this is a decent gives me some things that I need to get accomplished at my next doctor's visit, and it gives me a base-line for the vitamins and supplements I am going to start taking. I'll probably start taking each supplement one at a time (starting with the B12 and the metafolin, but actually starting those at the same time) and wait a week or so before starting the next, just to see how my body reacts, and so I can pinpoint anything giving me negative side effects (not that the above listed typically gives a person side effects). None of these things I've listed above are recommendations for anyone else - I'm not a doctor nor qualified to recommend supplements to anyone else, I've just done my research and pinpointed the main things I feel like I should focus on for my health, so if you are wanting to start a vitamin regimen because you also have a MTHFR mutation (or just because), I strongly urge you to research your own individual health issues, your diet, the vitamins you are considering taking, if your MTHFR mutation will affect the absorption of whatever vitamins, etc.

Dr. Ben, from, has a list of recommendations of vitamins to take while pregnant that is similar to my list above (his whole website is very informative), and I did get some of my ideas on what I might need from that list, but not all of them.

I might come back and modify this list as needed, since I'm really only posting it to help myself keep track of it all. Educated suggestions are always welcome, because I don't oppose to doing more research on things I might have missed. I am in such a different mental state than I was when I first found out about my MTHFR mutation. Knowledge really is power, and I feel a lot more in control of my health now that I know what is wrong with me, and have a base-line of where to start to help fix it. There's going to be no more crying about my mutation genes, because now I know it isn't the end of the world - this is something I can take charge of, and I think I'm started on the right track for only just finding out about this.

Please continue to pray for us and Eden, for  God to give us strength, peace, and grace to continue to get through this, for knowledge, wisdom, and power concerning my health and the health of future pregnancies, and for little Eden's heart to continue to beat strong so she can get a chance to meet her Mommy and Daddy.


  1. Best of luck to you and your family--I'm heterozygous A1298C. My family members got their MTHFR testings after my cousins got pregnant, were tested and have it. Pretty much every woman in the family was diagnosed, and were playing Russian Roulette without even realizing it. Half the meds needed to be changed, doctors switched, vitamins swapped, and lifestyles altered. At first, we were all a little upset and nervous, but we've learned to deal with our "MoTHerF*ckeR Gene"...all it means now is that we take a little better care of ourselves, and get a little more involved when dealing with our medical care.

    With proper care for yourself, you're going to be ok. Your future will be bright. Your family will grow. It *does* work out! Keep your head up, and don't let this get you down. They suspect that half the world has this--you're not alone.

    Prayers to you and yours.

  2. I am so sorry to hear about your daughter; ever since I learned about anencephaly it has been on my mind (two years ago, maybe!). I worried before our ultrasound that I might face that diagnosis, even though there was no particular reason to fear- just because it's the scariest to me, maybe. I hope that you can go into labor on your own and hold her. There is an account in Ina May's Guide to Childbirth of a baby that was born with anencephaly, and lived for several days in the hospital before the parents took him out to care for him at home. It is terrible how the medical profession dehumanizes these babies; Eden would be happy to know that she has such loving parents.
    It sounds like you have a good plan for the future. I would also be dubious of their statistics; how many women do they even have to go off of with those numbers? If you haven't heard of it, fermented cod liver oil is a really great supplement, because it's not processed, just fish oil extracted by fermentation. I also take a vitamin C supplement that is the Alive whole food kind, not synthetic.
    Child spacing is also more important than people give it credit for, I think. In traditional healthy cultures children were always spaced about 3 years apart. I was quite upset to find myself pregnant when my daughter was 15 months old for that reason. I was worried about the vitamin deficiences brought about by pregnancy and breastfeeding and how they would affect the new baby. Even though I'm happy that he's here and I love him, there are a few issues that I wonder wouldn't have happened if I had made sure that we waited longer to conceive.

  3. It's not going in order to happen overnight but granted enough time, usually 1-2 months of vitamins, AND suitable diet You may watch results. is usually the guaranteed? properly That depends from ones commitment to be able to stay in a schedule connected with exercise AND supplying your own body through the nutrients The item It needs.