[slobin]

I've been diagnosed with the MTHFR DNA mutation which causes blood clotting in pregnancy (thus m/c) and also poor absorption of folic acid and other B vits. It also increases odds of having a baby with neural tube defect (spina bifida) because of poor folic acid absorption. The treatment is baby aspirin, heparin (or other blood thinner) and high doses of folic acid acid and vit. B6 and B12.

I'm thinking that this should be a standard part of an IF workup because it's so common and often over looked. 40% of caucasion people have it. So I wanted to share this in case others feel they should be tested. I think that anyone ttc should test- i'ts just a simple bloodtest. Please consider doing it.

[keeppraying]

Slobin-
I too have been diagnosed with MTHFR my dr called and said that I should up my folic acid to 4 miligrams a day. Is this right. Do I have hope to get pregnant... could this have caused me to not get pregnant before?

[einstein]

Zoe,

Wow, thanks for posting such important information. I pray that you will continue to do well throughout this pg.

[kobl]

Just wanted to add on to this. I recently saw a hematologist (specializes in blood disorders) who shed alot of light for me on my diagnosis of MTHFR and abnormal Protein S levels. He told me that with MTHFR, it's important to know if you have one copy of the mutation or two copies. I only have one. Two is more serious. He also told me that roughly 30% of the population has 1 copy of the gene mutation and that most go untreated. He told me that the best treatment for that is the folic acid supplement plus eating lots of foods that contain folic acid like green leafy veggies and fortified cereals.

He also told me that most RE's are not really well qualified to diagnose these types of disorders and that it's best to go to a hematologist becuase they use special labs who know how to run the tests. He said with tests like these, there can be lab errors if the facility doesn't really specialize in this kind of testing. I really wish I had seen him earlier because he put my mind at ease about several issues I had been worrying about.

[keeppraying]

So I was told to up my dosage of Folic Acid... should I request to be put onm Folgard or take baby asprin as well?

[keeppraying]

Also, is Folgard a presciption or OTC. Do I take Folgard in addtion to my normal prenatal vitamins or in replace of them?

[CandM]

OK...so what does MTHFR stand for...I've never heard of it? What made your RE's check for this?

Thanks ladies.

[keeppraying]

It is some kind of DNA mutation which means that I do not absorb folic acid well. I am not sure what it stands for. I had a lot of blood work checked and this was one of the test that I requested. Really- Slobin was the one that mentioned that this test was important. So that is the reason I even requested it. So I am glad that I did ask for it now. Thanks Slobin. Hopefully it is not something that I should worry about too much about????

[slobin]

Kellie & All,

I PM'd you just now.

For all interested in this topic. YOU HAVE TO ASK your RE to test for this b/c for some inane reason they do not routinely test for it! It makes no sense b/c it's so common, very dangerous (can result in m/c, spina bifida, gneral health problems not related to pg, etc.) and it's so easy to treat. I honestly don't know why every single woman ttc doesn't get tested routinely.

This is true also about needing to know whether you have 1 or 2 copies. And I agree that most RE's are not competent to treat this b/c they are ignorant about it. I was diagnosed by Dr. Beer my RI (reproductive immunologist) and luckily have been treating this since Feb so my pg will not be affected.

I hope every single one of you will read this and ask your dr. to test you for the MTHFR DNA mutation. You can Google it there is tons of info out there. It is a simple blood test, there is no reason except for ignorance and incompetence that every single of of you out there hasn't been tested. It makes me sad that we have to be our own doctors despite paying our drs so much money. So please advoacate for yourselves!

[keeppraying]

Slobin, thanks for all of the info... I am going to call my RE back tommorrow and find out if I have 1 or 2 copies- first thing in the morning!!!

[westchestermom]

Hi,

I recently got the results from some bloodwork after my first mc and I tested postive for two copies of the C677T mutation. I have an appointment with the specialist at the end of the month but I think I might crawl out of my skin if I don't have any information until then. Does anyone know how serious have 2 copies is to future pregancies and overall health ?

Any advice is welcomed.

Thanks

[jencat215]

Originally Posted by westchestermom

Hi,

I recently got the results from some bloodwork after my first mc and I tested postive for two copies of the C677T mutation. I have an appointment with the specialist at the end of the month but I think I might crawl out of my skin if I don't have any information until then. Does anyone know how serious have 2 copies is to future pregancies and overall health ?

Any advice is welcomed.

Thanks

you have the more severe form of the MTHFR mutation, which can cause depleted folic acid levels and increased homocysteine levels (have you had your homocysteine levels checked? if not, ask them to!). you will definitely need to be on the extra folic acid/baby aspirin and probably should be on heparin. I would ask for Folgard (generic is FABB tablets) which contains 2.2mg folic acid per tablet, plus B6 and B12.
The info above is correct. This mutation can be a cause of m/c due to blood clots. I have had 2 m/c's before diagnosis, and now am currently pregnant and taking Folgard, baby aspirin and heparin injections (along with a daily prenatal vitamin...I get 5.4mg folic acid daily in vitamins alone). With proper monitoring and this easy treatment, you should be able to carry to term w/o incident.

Since this mutation can be a cause of blood clots, you might need to be on folic acid therapy for life if your homocysteine levels are not normalized.

I wouldn't wait to start the folic acid therapy. I have been on it for a year and a half. You need to build it up in your body to protect baby from the neruological issues that can occur. At the very least make sure you are taking a prenatal vitamin with at least 1mg folic acid in it.

[Passionscientist]

I actually found out that I had this issue when I went to a neurologist for migraines. I have always had migraines when I was on BCP and when I started both of my IVF cycles, the migraines were intense! So I decided to talk to a neurologist and she was the run who ran all the blood clotting tests (expensive might I add)...anyway, I had several blood clotting disorders that had gone untreated could have caused multiple miscarriages and possible pre-eclampsia and strokes.

So I would also suggest that if you suffer from Migraines while on BCPs that you ask to be tested for something else called Antiphospholipid Syndrome (APS, also known as Hughes Syndrome). In the course of testing for that we also found out that I was a double hetero for both alleles of the MTHFR gene...which has the same affects of being homozygous on one allele. So fortunately we found out before this IVF cycle and I'm on Lovenox, Folgard, and baby aspirin.

Unfortunately, sometimes we have to be our own advocates and the testing isn't cheap either. Good luck!!

[ladymcneill1104]

I wonder if I should get tested as well. I am always so tired. I drink the super shots that contain alot of B6 and B12 and I feel better but here lately that isnt even working. I have never had a known m/c.

[ritzertbaby]

I was diagnosed after three miscarriages. I have one alle factor V leiden and one alle MTHFR. I found this forum and love it. Everyone there has clotting disorders of one kind or another and they have a lot of information. Check it out.

FVL-PG : Factor V Leiden and Pregnancy Issues

Also a great article to read.

http://www.nytimes.com/2008/06/10/health/10brody-.html?_r=1&ei=5070&en=3ddabe06acdb0d7e&ex=12137616 00&adxnnl=1&oref=slogin&emc=eta1&adxnnlx=121492029 8-Osl2UY6z17AxrRXxbHbjhA