Nervous About "Border-line" MTHFR

Updated on November 17, 2008
T.M. asks from Downers Grove, IL
9 answers

I just wanted to see if there was anyone out there like me. I had a second trimester miscarriage a couple months ago, and it was my second miscarriage, the first was prior to my daughter at 6 weeks. I have one healthy 2 year old daughter, but my OB thought we should persue some genetic testing due to something they found after my miscarriage. So, yesterday I went in and she informed us that I am borderline for MTHFR, a disorder that limits B vitamins and folic acid absorption. Also at our appointment we found out that we are expecting again (very very early in pregnancy). My doctor has instructed me to take Folgard (B complex with folate) and my prenatal and a 81mg. aspirin every day. I just wonder if anyone had any experience with this and what the outcome was. Internet research has brought me nothing but worry, the last thing I need right now :) Thanks for your help!

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So What Happened?

Thank you everyone! I honestly thought I would post this and no one would respond. It is so helpful to me to know that so many of you have had similar situations. I appreciate your stories, your honesty and your thoughts and prayers, thank you again. My plan is to take this day by day and to consider each a blessing.

More Answers

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S.O.

answers from Champaign on

Not sure about "borderline", but I have the mutation and after three miscarriages (none longer than 8 weeks) I took folic acid, prenatals, low dose aspirin and progesterone (precautionary through 12 weeks) and have had two full term pregnancies since then.

It's hard not to be nervous after a miscarriage. I hope that hearing good experiences helps.

Good luck!

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J.T.

answers from Chicago on

I too have MTHFR. I never thought of it as a horrible thing (as some of the other responses)...just as something I have to deal with.

I had two second tri-mester miscarriages. I developed a blood clot during my first pregnancy. That is how we figured out that I had MTHFR.

After the two miscarriages, I "put myself" in the high-risk area for my third pregnancy. I went to Dr. Silver, the head of maternal fetal medicine at Evanston Northwestern Hospital. I live in Island Lake, so it was a HAUL for every appointment; however worth every mile. I have a healthy 2 yr old little girl!

I take folic acid, a baby aspirin, a B-complex (B6 and B12) vitamins AND I gave myself shots of Lovenox throughout my pregnancy twice a day (and I am scared to death of needles).

I would get a 2nd opinion on the Lovenox (blood thinner) for your pregnancy. I found that the regular OB GYNs meant well; however they just weren't specialized enough to know the right course of action. I found out (during my successful pregnancy) that I was taking too much blood thinner in my 2nd pregnancy. It is not surprising that it represented itself as placenta previa because of that. I think the words I remember was the dosage that you were taking was for a mack truck! Again, I don't fault that dr., they just weren't specialized enough. They were working with my hematologist and just didn't know enough.

Since you had multiple miscarriages, I would suggest Dr. Silver - he and his group are BEYOND AMAZING! They continually discussed my care throughout the pregnancy as a total staff, talking about the best course of action right through to Maggie's delivery (for instance, do we take her off of Lovenox and put her on Heparin because Lovenox stays in your system for a while, etc.)

I would and will go back to them in a heartbeat. I had multiple issues (39 years old, overweight, hypothyroidism, MTHFR, blood clot first pregnancy and water broke, second pregnancy presented itself more as placenta previa)...lots for them to navigate through...and there wasn't one day that I didn't have confidence in my care.

Good luck and I pray that you will be posting the good news in no time!

J.

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M.J.

answers from Chicago on

Hi T.,
I too have the MTHFR gene. I have had a total of 3 miscarriages. Two miscarriages before my healthy 2 year old and one before my 6 month old. I am going to butcher the spelling of MTHFR but it stands for Methalinetetrahydrofolate reductase. It is a blood-clotting disorder and our bodies have a difficult time metabolising and absorbing vitamin B and folate. Because of my miscarriages my entire family was tested for the gene and sure enough we all have the gene including both my mother and father which is really rare. Before getting pregnant, my OB suggested I take my prenatal vitamin, extra folic acid, a baby aspirin as well as a progesterone only pill. Once I became pregnant I also injected myself in the belly with Lovenox, which is a blood thinner. I did this for the first trimester. After the first trimester I did continue with the baby aspirin and extra folic acid. I finally delivered a healthy boy. The second time around I did the same regiment except I did not take extra folic acid because my OB thought there was enough in my prenatal vitamin but then after 8 weeks I miscarried. With my second son I did the same regiment(with the extra folic acid) and of course it worked. I don't know if the drug regiment is what helped me maintain my pregnancy's or if it was just good timing but I have 2 healthy boys. The crazy thing is, my sister has the same gene and has had no problems getting pregnant and carrying her three children. I hope this information helps. If you have any other questions please e-mail me. Good luck!

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L.C.

answers from Los Angeles on

Please see a perinatologist about this issue. My sister delivered a full term stillborn girl last year. She had an autopsy performed on her daughter and underwent lots of testing on herself. None it it revealed anything wrong except for an MTFHR diagnosis for my sister. She is homozygous. I was pregnant at the time too, so I was also tested. I also have the MTHFR mutation, but I am heterozygous. I believe 40% of the world population carries this mutation.

My sister's OB recommended that for future pregnancies, she be injected with Lovenox and take a folic. She later saw a perinatologist who has a lot of experience with patients who have had stillborns. He looked through her file and saw the diagnosis for MTHFR, but concluded that it is NOT the same mutation that causes blood clotting. (There are many kinds of MTHFR mutations.) He is a very conservative doctor, and yet he said he would never advise her to inject herself with lovenox given the type of mutation she has. In short, MTHFR is not what killed her daughter. (By the way, prior to the stillbirth, she had a healthy baby boy.)

My OB recommended that I take baby aspirin and extra folic acid during my pregnancy because of my diagnosis. I took the folic acid sporadically, and only took the baby aspirin during my first trimester. I had a healthy baby boy in July.

Research on MTHFR -- especially its effects on pregnancy is still relatively new. Try not to get spun up on everything you read on the internet. You will want to be sure you have the guidance of a high risk specialist to interpret all the latest research and give you the proper diagnosis.

I am SO SORRY about your second trimester loss. How devastating. I wish you the best of luck on your future pregnancies.

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B.W.

answers from Chicago on

I have 2 copies of the mutated C677T gene and I have 2 very healthy babies now! I took Foltx, my prenatal and a baby aspirin, and had no troubles. I actually didn't find out about it until I was pregnant with my 2nd baby. I was tested for it because of all the complications I had with my 1st pregnancy. I had preeclampsia at the end of my 2nd pregnancy, which they've linked to MTHFR, but I'd made it to 37 weeks with no troubles.

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A.M.

answers from Chicago on

I have experience with this also. I am MTHFR + homozygous C...which isn't the greatest genetic marker to have. I have had one 12 wk miscarriage and 2 early ones. I take Foltex (fogard)and baby asprin for life. After ovulation I start low weight heparin injections till I find out I'm pregnant or not. I also see a hematologist every two months. as long as you follow the md's recommendations you should be fine. The folgard and baby asprin will help with any microscopic clotting in the placenta the could occur....you should be fine!!!:)

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A.L.

answers from Chicago on

Can I just say I hate those letters? As others have mentioned, not only does it make your body unable to digest folic acid, but it can cause clotting or, as my specialist refers to it, "thick blood". If you're borderline, you probably have one gene rather than two, so you may have a better chance. I don't remember what folic acid I was prescribed, but it was pre-digested. Be thankful you found this fairly early; mine wasn't found until 4 miscarriages. It's strange because I have my 5 year-old daughter who was my first pregnancy without any other medications. I'm glad to hear treatments have worked for others, and it's definitely promising. Be grateful you found this out when you did! I'm too nervous to try again, as my 5th miscarriage occurred under the treatments of baby aspirin and vitamins. Next time, if I can bring myself to try again, I'll have to go with the daily injections of a blood thinner.

I'm sorry I haven't been more encouraging. But please, don't worry as that isn't going to help anything, and the other women who have posted have been quite successful. I will pray the treatment is successful for you and you have a beautiful smiling baby in your arms next spring.

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M.A.

answers from Chicago on

I haven't been diagnosed with MTHFR. (I don't even know what it stands for) but I was diagnosed with a similar absorption problem when they were looking for what was causing my peripheral neuropathy. I continue to have absorption problems, and was put on a rigorous injection schedule for B12, which tapered off to a once a month injection, even 10 years later. I also take prescription strength folic acid every day.

It doesn't make sense to me that if your body has trouble absorbing vitamin B and folic acid, they are having you ingest more of it.... usually the problem is the digestive system. You should inquire about that, and ask if injections are the preferred treatment method for the absorption problem. I wish you luck. We had trouble conceiving, and had help with my first, but I was able to conceive naturally with my 2nd. I do worry that one or both of my children may have the same malabsorption problem, however.

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V.L.

answers from Chicago on

Good luck and God bless you all.

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