Supportive chat for people with MTHFR.

edited March 2011 in Pregnant
Have you been diagnosed with MTHFR? If so, feel free to share your story here. I will start by sharing a little about mine...My husband and I have tried for several years to get pregnant. I unfortunately miscarriage 5 times along the bumpy road....most were early on, within the first 2 months so the doctors didn't think anything of it and said it was common. One pregnancy I lost when I was close to 5 months but they still didn't have an answer for me. Im a healthy person, I don't drink or smoke, I don't do drugs, I eat very healthy, I'm into nature and natural living so products in my home are plant based rather then toxic, I do a moderate amount of activity in my daily living, etc....I was taking my prenatal vitamins and drinking plenty of water....didn't have abnormal stresses in my life....so why? Why couldn't I carry a healthy baby to term? Finally I got pregnant again after over a year from the last miscarriage and I was desperate....I went to my regular GYN the second I knew I was pregnant and begged her to help me. We sat down and went over everything from top to bottom....what was my daily routine, what do I eat, what do I do, etc... but I left with still no answers other then these things just sometimes happen. Well of course I was in tears when I left yet empowered and determined to figure it out and carry this amazing gift to full term. I started researching and came up short. One day my GYN calls me and asked me to come in. She wanted to do a test on me but didn't give me much information as to what it was. She just said routine screening....but I could tell it was more then that. Since I had been going to her for a very long time and trust in her fully I allowed her to take my blood and run the tests. A few days later I get a call from her informing me she figured out what the problem might be....at this point I was about 6 weeks pregnant. She informed me my test came back positive for a genetic disorder called MTHFR. I of course was terrified instantly and asked a million questions. She was patient with me and answered them all. She then told me to get to the pharmacy right away to pick up my prescription and to start treatment immediately. So I did. I was concerned I had waited too long and there would be side effects to the baby because I wasn't already on treatment. My GYN'S name is Nicole Gwelli. She is my Angel. She was so patient, supportive, and understanding. She turned my care over to a high risk OBGYN but any time I needed her I could call.
Well anyway, so once I began treatment which is nothing more then a very high dose of vitamin B complex, high dose folic acid, and 1 baby asprine per day along side of my prenatal vitamins, I was still a nervous wreck wondering if damage had been done to my innocent baby. As time went on we finally got to the point when the doctor informed us it was a girl and her spine had closed up successfully and her brain and heart all looked healthy. We would have loved her no matter what and would have been grateful for our little blessing but of course it was a relief to know she was healthy. I'm now 32 weeks pregnant with this bundle of blessings....it has been a bumpy road but we are so super excited to meet her and getting anxious. As for me, I will have to remain on treatment the rest of my life and our little girl will need to be tested as well. I'm so grateful for Nicole. She truly cared and for that I am blessed.

Comments

  • Wow! Amazing! Thanks god u have a great and caring ob! Best of luck to u and ur fam!
  • Hi i also have MTHFR i was diagnosed early in this pregnancy im now 21wks.My 1st pregnancy in 2007 they told me at 10wks the baby had Anencephaly,I carried her till 31wks she passed away about 12hrs before delivery..I started floic acid as soon as i got home just so it would be in my system just incase i was to get pregnant again i ate it throughout the day like candy so i know i was gettting a very high dose lol i got pregnant 3months later..i have to say i was SO scared!! I couldnt get in to see a doctor until almost 5months!! I just felt that it was healthy tho i was very sick the whole 1st trimester! Turns out it was a very healthy Boy! My mother passed away unexpectedly 3wks before his delivery :'( so i had to go through that also..i got pregnant again July 2010 and ended up miscarrying in September a week before my sons 2nd bday..the doctors decided to do tests so the day i went in for the tests i found out i was pregnant again!I just started crying out of fear..but they got the results and got my meds started for MTHFR and figured that was possibly the cause of my daughters Anen since i couldnt absorb F.A...I am now carrying a healthy baby girl :) i feel so blessed right now to have carried an Angel,have a beautiful son,and a lil princess on the way!!congrats on your baby girl!God is good!!
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  • Wow! Such a beautiful story! What a true blessing to have such a thorough, caring GYN! I'm so happy for you! Congrats to you and God bless!
  • edited March 2011
    Lilmomma, congrats to you and your blessings! I know how scary it is, trust me I do. And the fact that you went to 31 weeks....I can't imagine how hard that was....stay strong! And I hear you about eating tons of FA and B. I have been doing the same. I also found it interesting how you said you could tell when you finally had a healthy pregnancy....I have been talking about that to my friends and family this time around how I could just feel the difference....its amazing! So far things are good with exception to a few pickups....I had a scare where I went into pre-term labor but it was due to stress at work and too much walking. They stopped it and everything is ok now. We also recently found a spot in my baby that is just below her kidney. They think it is just an ovarian cyst being fed by my hormones....her kidneys appear to be working good. All we can do is monitor it and wait until she arrives to verify. I'd love if you could keep me posted on how you are doing! Id love to hear back from you. I will keep you posted as well. One more thing, if you don't mind talking about it, what is anensephaly and do they think it was a side effect of MTHFR? Not that I need another thing to worry about...but if it is something I need to know about and or track then I'd love to know more. My doctors are kinda learning about MTHFR right along side of me so any help would be greatly appreciated
  • definetly keep me updated! i hope that spot is nothing to bad..my doctors didnt think pregnancy was viable, and i had bleeding though almost the whole 1st trimester it was so scary i just knew they were gona tell me we lost it but shes still going strong and looking healthy although shes measuring in the 10th percentile.so i have to have more ultrasounds to keep an eye on her!...
    Anencephaly is a neural tube defect kinda like spina bifida except it effects the skull and brain..when the neural tube closed her head didnt form all the way..so at birth her brain was exposed..theres a 100% fatality rate for these babies..so i knew the whole pregnancy that she wouldnt live i just couldnt abort a baby that i wanted so badly!! i left it in Gods hands and he carried us through and she changed my life. It is a very rare thing to happen but it hit close to home for me a girl i went to highschool with had ababy with the same condition almost a year ago...they cant find an exact cause for it,sometimes its genetic,in my case they said its possibly from MTHFR...but most the time theres no cause it just happens.If you have anymore questions im more than happy to talk about her..hername is Brandi Faye :)
  • Thank you. I know spinal bifida can be a side effect from MTHFR as well. Now that you mention it, they were monitoring my little one (her name is Kaliah May) for the Anensephaly too. I just didn't know that is what it was called. They did explain that they were looking to ensure her spinal column and brain fully covered over...they just didn't explain that there was an actual disorder that causes that and such. Kaliah had also been measuring on the smallside up until last week when we had our last US she hit a growth spurt and is now on target. The only thing I did different was to add an omega supplement to my daily routine....I'm wondering now, since we are both having under size / under weight pregnancies if it too could be a result. I suggest you try adding an omega fatty acid supplement too....it can't hurt and if you get the same results I got which is a growth spurt in baby to where she is finally within range then that speaks a lot about MTHR and the need for an omega fatty acid supplement along side the FA and B supplements....thanks for sharing your story with me too! I will definitely keep you posted....
  • Thankyou i will have to mention that to the doctor i have another ultrasound on the 29th im hoping she will be atleast growing...im okay with her being on the small side as long as she is growing at a good rate.Its just crazy i have had 4 pregnancies and they have all been very different my son was always large,they took him 2 weeks early (by induction) bc he was expected to be 9lbs at the time,he was 8.3 :) i couldnt imagine how big he would have been 2wks later at the rate he was growing! Good luck!! Your very close to delivering i hope everything goes smoothly for you!! And she is a perfect lil baby girl :) congrats again and God Bless...
  • Here is a good site to check out. I found it very informative and one of the few sites that were easy to read and understand....

    http://circ.ahajournals.org/cgi/content/full/111/19/e289
  • edited April 2011
    OK so we just moved out of state (yes its a crazy time to move but opportunities were screaming at us both) and so I am with new care providers. I found an amazing birthing center with very knowledgeable midwives. The midwife I'm working with knows quite a bit about MTHFR! I was surprised. She has had patients with it and has had to do a lot of research. Well anyway, I went in for my checkup and my blood pressure was slightly elevated. It wasn't anything I would normally freak out about but I was slightly concerned. Well my midwife was VERY concerned. She said preeclampsia is very common in moms with MTHFR. That it is a side effect and she has seen it go from bad to worse very quickly so we needed to get a grasp on it right away. I looked it up and what I read agrees! This only started recent which is ironic because I stopped the baby asprine recent so I'm wondering if the two are related....anyway, I just thought I would share that with you all so you can keep a close eye on your blood pressure and watch for even slight elevations. I will be 36 wks on Monday. We don't want her to come until at least 37 weeks. She is only measuring 5 lbs right now (and my midwife does it the old fashioned way, she grabbed my belly and started mushing it around to feel every part of Kaliah. She at one point had Kaliah's head in her hands from the outside of my belly! It was crazy!) I'm 100% effaced but not yet dilated. She of course order me to bedrest with lots of water and a low sodium diet which should help both issues. I will keep you all posted.
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