Genetic mutation

amandacol28

I posted last week about this. I had gone quite a few weeks ago to get bloodwork done after my 2nd m/c. I felt like I waited forever for the reults, so I called the doctor's office.

The nurse told me that everything came back fine. I had a doctor's appt this morning for a pap, and he reviewed the lab report with me.

He said it showed that I have a mutated MTHFR gene. Most people have 2: they get one from their mother and one from their father. I only have one.

He says once I get pregnant again, he will have to order more bloodwork to check my homocysteine levels. He suggests that right now I just continue with a prenatal vitamin and make sure I am getting plenty of folic acid. He also said that this mutation could cause me to be more at risk for blood clots, so I am not going to be able to be put on birth control ever again.

Has anyone else been diagnosed with this gene mutation or know much about it??

lc&jw

I have been diagnosed heterozygous for one of the MTHFR mutations. My understanding is that about 40% of women have it. There is some disagreement among doctors about whether MTHFR plays a role in miscarriage (especially since so many women have it and many of them don't have problems with pregnancy loss). Some doctors will just have you take extra folic acid, while other doctors may have you also start a daily baby aspirin to help prevent blood clotting. In my case, my doctor wanted to take extra precautions and has also put me on Heparin to prevent blood clots from forming. Unfortunately that hasn't solved my problems.

In terms of homocysteine levels, mine were checked after my 3rd loss. If you want to put your mind at ease, you could ask for the bloodwork to be done now rather than waiting until you're pregnant. Good luck!

amandacol28

lc&jw:

I have been diagnosed heterozygous for one of the MTHFR mutations. My understanding is that about 40% of women have it. There is some disagreement among doctors about whether MTHFR plays a role in miscarriage (especially since so many women have it and many of them don't have problems with pregnancy loss). Some doctors will just have you take extra folic acid, while other doctors may have you also start a daily baby aspirin to help prevent blood clotting. In my case, my doctor wanted to take extra precautions and has also put me on Heparin to prevent blood clots from forming. Unfortunately that hasn't solved my problems.

In terms of homocysteine levels, mine were checked after my 3rd loss. If you want to put your mind at ease, you could ask for the bloodwork to be done now rather than waiting until you're pregnant. Good luck!

 

I bought a folic acid supplement today and started that. My doctor is going to also start me on progesterone as soon as I get a positive pg test. He checked my homocysteine levels, and they were normal. He said he wants to check them again as soon as I get pregnant because the fluxuation in hormones could change the levels. I don't know much about this, but I guess that makes sense. Thanks for the info. Good luck to you too!

Holly TH

Amanda,

You might want to ask your doctor about L-methylfolate.  Women with the MTHFR polymorphism have a limited ability to break down folic acid into its active form, L-methylfolate.  Folic acid is synthetic and must be broken down in a four-step process.  L-methylfolate (found in NeevoDHA) is the active form of folate. It increases blood folate levels and decreases homocysteine levels more effectively than folic acid.  

It's so important to have adequate folate levels while trying to conceive so it's great you are getting started now.  I wish you the best of luck for a happy and healthy pregnancy in the very near future.   

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amandacol28

Thank you so much for all the information! I know I can count on you all to help me figure out what is what.