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    meshell2005 posted:
    I've been recently diagnosed with a double copy mthfr gene after having 3 pulmonary embolism & several miscarriages. At first i was relieved to have a diagnosis after three years but now horrified after the dr explained it. I've heard all the horror stories and my Dr actually told me if I was going to continue the pregnancy she would not treat me or continue to be my Dr.

    Unfortunatly I lost the baby, but I found a wonderful Perintologist who is willing to take my case. I have decided to take a break for a couple months and then try to get pregnant again. I am currently on folgard & coumadin. My Dr told me that I will be switched to heprin as soon I start trying again because my body built up an allergy to lovenox

    My Dr has warned me about the possibilities of the baby having spineabiffida & down syndrome or another pulmonary emboli, heart attach, stroke or even death for me.

    I would like to hear from anyone who has MTHFR and is pregnant or anyone who has the gene mutation and had a healthy baby. I just want to know what to expect. Any information would be greatly appreciated!!!
    nechole99 responded:
    Wow that sound pretty scary! I've never even heard of MTHFR, but I just wanted to tell you good luck and I hope everything goes ok for you.
    TracySTB responded:
    I do not have MTHFR, but I have a similar condition called Factor V Leiden.

    When I was pregnant, I did not have to take folic acid like you will, but I did have to take heparin/ lovenox like you will. That involved giving myself shots, but it was really easy. It's not cheap though, check how much it costs by your insurance. The lovenox was $1000-2000 per month, and the heparin was supposed to be about half that.

    My baby was happy and healthy, and I made it through the high risk period post-partum.

    When I was getting ready to TTC, I found an MTHFR group on yahoo groups. They were all REALLY knowledgeable and there were maybe 50 women with your condition. I think that is your best bet for finding a lot of experiences of births. I know there were some homozygous women there too!

    Best of luck! And they will always give you a worst-case scenario. You can always ask for approximate odds.
    kfilcher responded:
    finally! somebody i can relate to! I don't know exactly what kind i have but my doctor just told me i tested positive for MTHFR. I have lost three babies, one at 10 weeks, and two at 6 months. my first baby had spina biffida, and they don't know about the second or third babies. My doctor also told me he would not treat me, so i have to see a specialiest in another town once i decide to get pregnant again. I am really confused now too, because i haven't gotten all of the information about my exact type yet. I did hear somewhere though that this gene mutation is only in about 200,000 women in country and considered a very rare disease. I would like to know more about how it effects me and not just my pregnancy. Is this something we should worry about in our normal everyday unpregnant lives? Or is it something we only need to worry about when we are pregnant? i would love to talk to you some more and maybe together we can find out more information!
    meshell2005 responded:
    Hi My name is Michele and I am so glad you responded. First I want to send my condolences to you for your loss. This whole experience is very scary especially when you can't find any information on this mutation. I'm still learning about this gene mutation but i know there are two types heterozygous & homozygous. It sounds like you may have homozygous but get your records from the Dr. that diagnosed you so you know what you're dealing with.

    From what I understand my body does not absorb folic acid in turn causes my homocystine levels to rise which causes my blood to clot. My Dr. put me on a perscription of folgard which is folic acid life long. The folic acid will keep my homocystine level down. I am also on bloodthinners and will also be on them the rest of my life because i've had three Pulmonary embolisms. I also see a hematologist due to this problem. Are you seeing one?

    I've had consultations with 3 perintologist and all three had the same course of action in mind. All three told me not to close the door on trying again. After my ob refused to treat me I was ready to call it quits. They all said that i need to be on folgard for a few months before i ttc again, then they will start me with heprin injections 1 or 2 months before conception.(Normally it's lovenox injections but I'm allergic). I will be on heaprin the whole pregnancy up untill 8 hours before delivery so I won't bleed out, but this is where it get's tricky because in the past when i wasn't on blodthinners I usually clot. So it's definitly a risk.

    I have found a few MTHFR groups on yahoo. You have to join the group befor e you can post questions. I joined on Saturday and I was accepted into the group yesterday. I haven't had a lot of time to check it out but there are a lot of ladies who have MTHFR, but the majority are hetero. I have not found anyone who is homo yet and I haven't had time to pose a question. Definitly check it out because there is a wealth of info from the women on yahoo. I look forward to hearing from you. I hope i shed some light on this for you. Take care Michele
    alexrawlins responded:
    I have both genes defective as does my wife, my mother, father etc.

    MTHFR is the process Methyltetrahaydrofolate Reductase. It is the way the body processes Folic acid. The gene defect causes your body to process folic acid at a rate below normal, and as we know folic acid is important in pregnancy. Recently the FDA has approved a prenatal prescription vitamin specifically for pregnant women with MTHFR called N?evo? that contains a more bioavailable form of Folate.

    I have found that the MetaNX (a non pregnancy related FDA approved prescription supplement) has helped me a lot with fatigue, light sensitivity, etc.

    I am not a doctor and only recommend looking into Neevo because it has helped several people I know.

    My wife has both genes defective (Heterozygous for MTHFR C677T and A1298C), and I am as well (homozygous for MTHFR A1298C). We have had a healthy baby boy with another on the way. Wish you well.
    alexrawlins responded:
    From above-- (I did hear somewhere though that this gene mutation is only in about 200,000 women in country and considered a very rare disease.)

    I wish I could find the reference, but I heard it was close to 10% of people have both genes defective.

    Clarifying, there are various types of the MTHFR Gene; Normal, C677T polymorphism, A1298C polymorphism, and several very rare ones. These gene sequences exist on Chromosome 1, and as such you get one from your mother and one from your father. M Hetero ost research so far has been done on C677T. When people say Homozygous they can either have both as 677 or both as 1298 or even both normal. When people refer to Heterozygous it means they have two types (One Normal, one 677) or (One 677 one 1298) or (One normal one 1298). All Homo and mean is same or different.

    The MTHFR chemical process is important in utilization of Folate. Which causes issues with homosystine. Blot clots are a common side effect. Often women in pregnancy are undergoing changes and so they see more effects from having MTHFR.

    Some conditions related to MTHFR are listed here

    While not knowing you situation and not being a doctor, I can't say that sure you should be fine. However my understanding is that this is actually more common that previously thought. Most people hear about a genetic condition and get real scared. This is in part because it used to be we could only notice the really bad ones as being genetic conditions.

    Since the human genome project we have come to a much better understanding of gene defects that are more common.

    Oh and it seems that folgard is only the regular inactive form of folate, so the Neevo (containing the more bioavailable form of methylfolate) should help from my understanding. I think it has only been out for a year. Let you doctor know and see what they say.

    Again I am not a doctor, and I hope you do well in pregnancy.
    alwyspg responded:
    I have mthfr and another clotting diorder factor v (5). I found this out after 2 miscarriages!! So after I found out we got pg again and I had t take 2 shots of heparin a day and everythng came out great!! I have 2 healthy girls and a boy on the way!!!!! I however am not sure about the gene mutation, sorry that your doc seems to be mean about the whole situation. I wish you all the luck and if you have any questions let me knoe! I will be floating from this board and 2nd tri board!
    dakotatwins responded:
    do not have mthfr but do have facter 5 leiden wich is a blood disorder i was not able to carry full term until i was diagnosed they put me on a lovenox shot once a day and i delivered twins wieghing 6pds each 12-16-06 it was scary but worth it
    NB92118 responded:
    During my last pregnancy I was diagnosed with MTHFR. I have heterozygous mutation, I have one of 677 and 1298. I had a completely normal pregnancy with my first child. Lost one at 10 weeks. I though I lost my son at 10 weeks, but he some how hung around through the miscarriage like bleeding. I saw Dr.Lavin at Akron Children's Hospital, Maternal Fetal Medicine. He is the one that diagnosed me.

    He put me on mega doses of folic acid and baby aspirin. I was on bedrest for several months until the bleeding stopped. My son still came early at 34 weeks but he was okay and has done fine since.

    I was told that I need to stay on prenatal vitamins the rest of my life, because they have the extra folic acid my body needs. I also need to stay on baby aspirin and be checked yearly. If I want to get pregnant again I need to start seeing my perinatalogist at least 3 months prior. I would be monitored and started on the extra then.

    I hope this helps!
    Birchbaby17 responded:
    First, I would like to say I'm sorry. I know how I feel today, after just finding out these results, and it's kind of a scary thing not knowing what this $20 word is and how it can affect both you as well as your baby. I was diagnosed homozygous meaning I have both 677 and 1298. I have an appt. now with a hematologist, and am awaiting to hear of my other appt. with a high risk ob. I have had two miscarriages, one at 3.5 months, and one a 3 weeks. I was told that I would need the injections shots, and preconception screening. I guess it's better than finding out that I am completely infertile, but, do your research!!! Some women get pregnant fine with healthy babies, others have miscarriages, or babies with deformaties such as cleft lip/pallette, etc. It all sounds really scary, but the more information you can gather the better. I have decided to write down this information so I have a list of questions to ask my doctors. I hope this helps, I know it's not great information, but you are not alone...which is sometimes helpful! Good luck!
    llm32 responded:
    I have MTHFR and Factor V leiden. I've had 5 healthy pregnancies. The first three I didn't even know I had the mutation. I got a blood clot at 30 y/o and then got pregnant b/c I had to go off the pill and no other conception works for me. So I took Lovenox shots for my last 2 pregnancies and everything went fine. I took Heprin at about 36 wks b/c it doesn't stay in your system as long. I saw a OBGYN and a Perintologist. I got sonos every month to check for blood clots. I have one month to go b4 my 5th child will be here. But so far everything is looking good. My docs were always very positive about my pregnancies but did warn me I should not keep doing it. So this will be our last one. The perintologist said it would be unlikely for me to get a clot while on Lovenox and baby asprin and the high folic acid. It's one of those things where you need to not take it lightly but at the same time you can't control all the outcomes. All you can do is do what the docs tell you and pray. From my experience, I'm sure everything will be fine.
    Mindylevit responded:
    I am going to be 40 and I i have heard of lack of folic acid can cause spinabiffda. There was a couple on t.v. that shared some of their story, There first child was born with spinabifida from lack of folic acid but their 2nd child was healthy because she knew to take extra folic acid. This is new to me. ANy extr info would be great. Thank you for listening:)
    Haylen_WebMD_Staff replied to Mindylevit's response:
    Hi Mindy - welcome! You are correct, folic acid is important for pregnant women!

    Click on the underlined words to go to the WebMD Vitamin and Supplement listing for Folic Acid.

    Are you pregnant or trying to conceive now? (I was a 40 years old and pregnant at one time - my daughter is now 2.5)

    KacelynsMommy responded:
    Hey Meshell!
    I am only 20 years old and I had my daughter at 18 years old. I had preeclampsia at only 19 weeks of my pregnancy. The doctors never seen that before because usually preeclampsia doesn't start until 30 weeks.

    The moral of my story is that I was put on bed rest at only 22 weeks of my pregnancy due to high blood pressure. I ended up having my daughter 1 day before my 36th week.
    She came out as healthy as can be and she has NOT one problem today, she is the most precious gift from GOD.

    anyways after i had her the doctors came and took 12 viles of my blood to see what was going on. They found out i had MTHFR and i freaked out. I am not on meds to keep it under control. And I can honestly say if you keep God in your life and keep faith he will help your little baby survive that long journey! Good luck to you.

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