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MTHFR-I Have It. Do You?

“Methylenetetrahydrofolate reductase (MTHFR) is a rare genetic defect that can lead to complications in pregnancy. Many people do not know that they have this defective gene until after they have had several unsuccessful pregnancies. Others may carry one pregnancy to term and not discover until afterwards that they carry the defect.”

You can call it MotherFucker.   We all do.  Even the nurses at the RE Factory!

Before we started this donor egg IVF cycle, I made sure they did an RPL (recurrent pregnancy loss) panel on me, even though I only had one m/c.  My acupuncturist seemed pretty certain 2 of my other cycles were early losses and I wanted to rule out everything possible to make sure this cycle had the best chance of success.

Now I know that I have one mutation of MTHRF (C677T).  That means I am heterozygous. It is reported that nearly half the population is MTHFR heterozygous.  This is the best case scenario when it comes to MTHFR.  This is rather easy to work with, thank goodness.

I wished I’d had this test done sooner, because I could’ve been taking something as simple as a baby aspirin a day + extra folic acid, vitamins B6 and B12 to achieve a successful pregnancy.  Had I only known.

Here’s where it gets tricky:  How much is enough?  My RE is content with the baby aspirin but I think I might need to add more to the mix (like Folgard?).

Here’s what I’m currently on:

  • Prenatal:800 mcg of folic acid, 15 mg of B6 and 25 mcg of B12
  • B12/Folic Acid/B6 tab with 2mg B6, 1000 mcg B12 and 800 mcg folic acid
  • In addition I add wheat germ to a smoothie every day with “20% folic acid”

I’ve read that you should have 2.2 mg Folic Acid, 25 mg B6 and 500 mcg B12.  So, bare with me on my math skills here, but it looks like I’ve pretty much got the B’s covered and it’s just the folic acid I could be lacking, is that right??

So confusing and complicated.  What I don’t understand if if a baby aspirin can’t hurt, why don’t they just have most TTC women on it??

Also, those of you out there who suffer from migraines (I’m thinking of you Carrie) this gene has also been linked to migraines.

If any of you have any advice for me…I’d love to hear it!



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18 Comments

  • Reply waitingformavis May 29, 2009 at 4:41 pm

    Good lord! Never a dull moment! Always some unexpected diagnosis around the corner. At least that how it seems sometime. I am shocked. I am also glad that you insisted on the RLP and that you found this out before transfer. Hooray for doing such a great job advocating for yourself.

    I’m on the fertil.ty frie.nd boards and they have a whole section for people with this. I know people either love FF or hate it. Those girls do know their stuff though. Especially about this like this…and it’s easier for me than asking Dr. G0.og.le.

    Good luck, girl!,
    Jackie

  • Reply Lizzie May 29, 2009 at 5:07 pm

    My sister has MTHFR. I do not. Or at least I don’t have elevated homocycstene levels, which is a sign of it. Anyway, she is on prescription levels of folic, b6 and b12. Also, Two Hot Mamas just found out that she has the mutation, so you may want to drop her a note. My sis has a three year old, and is preggers right now and it is fine – totally manageable. (Though so sorry you are learning in retrospect). Big hugs. xo

  • Reply cindyhoo2 May 29, 2009 at 5:18 pm

    Wow! Well being a motherfucker ceratinly sucks but I am glad you found out now. :) Your math looks right to me. It seems that you need some more folic acid to get to 2.2 mg. My RE’s have all said suggested baby asprin for me throughout my treatments– sort of a can’t hurt, might help approach. I agree that it is sad that you only now found out about this issue. But it seems that you are still on track to be a great baby carrier.

  • Reply babypants May 29, 2009 at 7:47 pm

    I am so happy that you are such a good advocate for yourself, for K and for your future baby. It looks to me like you just need to boost your folic acid. Thank god you asked for the “extra testing” xoxo L

  • Reply Gayby Rabies May 29, 2009 at 7:56 pm

    I’m glad to hear that you have a diagnosis, and possibly a simple remedy. It does seem silly that most TTC women are not automatically put on baby asprin. If it can’t hurt, I might add it to my TTC vitamin regimen.

  • Reply A May 29, 2009 at 8:14 pm

    I never heard of it. That is a lot of great information! I’m going to have K add baby asprin. Thanks so much for the info.

  • Reply N May 30, 2009 at 1:31 am

    I’ve got it – compound hetero (which means I have one mutation of each the C- and A-). I’m on generic of folgard, plus extra extra b vitamins/folic acid on top of my prenatal, and baby aspirin. This is my first cycle with the diagnosis, so we’ll see.

    My doctor said the extra folic acid is what you need, but that the pills (folgard) have the extra other b vitamins other than what you “need”, because they help your body work with the folic acid.

    E-mail me if you’d like to kvetch (twohotmamas at gmail). We’re here in NYC this weekend, so have ‘net, but not quite as often.

    *hugs*

  • Reply Boo May 30, 2009 at 1:49 am

    I am so glad that you have a diagnosis AND that treatment is so easy! I love patients that come in with tons of questions and really advocate for themselves (which is not at all easy to do in the medical establishment).

  • Reply Carrie May 30, 2009 at 4:20 am

    wow, so it’s funny timing. i just got tested for it (and funny, i call it motherfucker, too!)…

    it’s been two weeks and my doc hasnt given me the results, so ive been hounding her. i MUST get the results before my ivf doc will allow me to move forward.

    so apparently on monday i go pick up my results for this bloody test (as well as 4 other tests). now im curious what my results will be.

  • Reply thebao May 30, 2009 at 2:04 pm

    I just have to say how impressed I am at your advocating for yourself–it really is inspiring. I’m glad you have a diagnosis and a plan of attack!

  • Reply Jen May 30, 2009 at 2:05 pm

    Gosh. Sorry you are adding this to your plate, but so glad you are figuring everything out before the transfer!! I take a baby aspirin as well, but I have blood clotting disorders that run in my family, so it is a precaution. I agree though, I think all ttc women would just start taking it b/c the benefits far out weigh any negative. Good luck.

  • Reply journeytowardsourbaby May 30, 2009 at 8:11 pm

    Sorry that you have something else to deal with but glad that you’re finally getting some answers.
    I know nothing about this but it’s interesting how much knowledge and info is out there that affects ttc yet we rarely hear about it from these fancy expensive clinics until too far down the track.

  • Reply 2girlsandtheirfamily May 30, 2009 at 9:17 pm

    You are so smart for insisting they run the full panel on you! Glad to hear this is something that is easily treatable. J was on 1 baby aspirin per day leading up to and during this pregnancy! Our dr took us off it once we got to the beginning of the 2nd trimester. From what we read/heard “it can’t hurt, but it definitely can help”. Hope it helps you ladies!!!

  • Reply poppycat May 31, 2009 at 3:23 am

    I CANNOT look at that and not see motherfucker, just can’y do it. I think I remember ‘Two Hot Mamas’ jusr received the same diagnosis, you should check with them. I am as confused as you are on the numbers so ne advise but I am happy you found out before the transfer.

  • Reply Chelsea Lietz June 16, 2009 at 9:14 pm

    I have the motherfucker issue, too!

  • Reply Chelsea Lietz June 16, 2009 at 9:21 pm

    sorry… instead of just whining, I could have helped. Or at least shared my experience…
    I was put on Zervalx for folic acid. I love it. I also take a baby aspirin daily. This pregnancy we are trying twice daily shots of heparin as well.

  • Reply Pat Robinson October 18, 2009 at 9:50 pm

    I wanted to be certain that you are aware of the need for 5-MTHF rather than folic acid (ie. folgard) supplementation. http://www.ncbi.nlm.nih.gov/pubmed/16940192

    My recommendation is food forms of folate: romaine lettuce, spinach, asparagus, turnip greens, mustard greens, calf’s liver, parsley, collard greens, broccoli, cauliflower, beets, lentils and beans. http://www.whfoods.com/genpage.php?tname=nutrient&dbid=63

    My interest in MTHFR grew due to immune issues in our child, homocysteine issues in dh, and my mom’s pancreatic cancer diagnosis this year.

    5-MTHF, a bioactive form of folate. Although synthetic folic acid is the common form of “folate” used for supplementation and food fortification, it must be converted to 5-methyltetrahydrofolate (5-MTHF) by the intestines and liver to become biologically useful to cells.

    However, as many as half of all Americans may have a defective gene called methylenetetrahydrofolate reductase (MTHFR) that impairs their ability to fully methylate folate. Unmetabolized folic acid that enters the bloodstream cannot be used by cells. Individuals who inherit MTHFR mutations from both parents are particularly vulnerable to folate deficiency. Insufficient folate is linked to greater risk of birth defects and other health problems caused by DNA damage. It can also cause homocysteine elevations, which can damage the inner lining of blood vessels, increase blood clotting, oxidize LDL cholesterol, and promote inflammation, leading to adverse affects on cardiovascular, neurological, skeletal, endocrine, and digestive health.

    Advantages of Bioactive Folate vs Synthetic Folic Acid

    5-MTHF is…

    • 5-Methyltetrahydrofate, the naturally-occurring, predominant form of folate

    • Directly usable by the body, requiring no extra steps to be absorbed and enter circulation

    • The only folate that can cross the blood-brain barrier

    • Directly involved in methylation reactions and promoting normal homocysteine

    • A superior alternative to folic acid

    http://www.mindmeister.com/12721370

    http://atlasgeneticsoncology.org/Genes/MTHFRID41448ch1p36.html

    http://www.detoxpuzzle.com/mthfr.php

    http://www.rawlins.org/mthfr/mthfr.html

    http://nwhealthcare.net/index.php?id=40

    I was a critical care nurse for 17 years. I’m interested in helping more young families to understand the importance of food folate to health. You can read more of my posts related to health and healing on Mothering.com. I am WuWei there. Or on our site “Heal Thyself”. http://heal-thyself.ning.com/

    Take great care,

    Pat Robinson

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