Twilight2008

My OBGYN called me today and gave me my blood work levels and also informed me I have a genetic mutation called MTHFR or "methylenetetrahydrofolate reductase" which can cause higher coronary risk, blood clots, preeclampsia during pregnancy, miscarriages, and higher risk for my children to have neural tube defects like spina bifida, and down syndrome. My doctor told me during pregnancy if I take 1mg of Folic it can help reduce the risk significantly.

I am so sad, I just cried over the phone to my mother because not only does PCOS reduce my risk of getting pregnant and carrying to full-term, so does this newly discovered genetic mutation which is hereditary.

I'm 25 and my B/F (of almost 9 years) and I want to wait a few more years to try and get pregnant. My OBGYN assures me in a few years there will be even more medication and such to help us. But I am still so worried and scared I won't be able to have kids or healthy kids.

My B/F is so great, he keeps hugging me and telling me it will be okay and we'll have beautiful babies together....he's so great. I love him and his undying support

I was wondering if anyone has heard of this or has it themselves?

Missy

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2QTKat

Oh hun, you are not alone!! there are many of us with this, but the important question is, which mutation do you have? It sounds like the single mutation which is good, when you decide to TTC just ask your DR to put you on Foltx or the like, ask this question on the TTC or pregnancy boards and you will get so many responses, good luck!!!

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JustMe26

I want to add that there truly are many of us out here! At least you found out before you had any miscarriages. According to my doctor, that is most likely the reason for all 3 of mine. If you take your medicine (Aspirin, folic acid) as you are prescribed, then your risks are equal to a "normal" person. It is a devastating diagnosis at first because it is such a new one. Good luck!

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Twilight2008

WOW! So there are more of us out there? I was scared to death when my doctor called me and told me this. I was devastated. I actually just went back today for further blood work. My doctor told me they are going to check my homocysteine levels.

So do I ask what kind of mutation I have? Is there single and double mutation? Is that the same as homozygous or heterozygous? I'll ask my doctoe when she calls back with the next set of blood results.

I guess I should be thankful it was discovered now, rather than later when we are TTC.

Have any of you had successful pregnancies? And healthy children?

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Licsh

As you can see from my siggy, I do have a wonderful healthy DS and I have the double mutation (homo). I found out recently and it is probably why I have m/c'd 3 times. I am hoping that the aspirin and folic acid help next time.

Good luck!

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Alicia 32 DH 30
DS 4, 1/26/05
DD born 7/18/09
m/c - 8 wks 3/07, 5 wks 8/07, 5 wks 1/08, chem 10/08



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