MTHFR

[shasy03]

I posted this in the miscarriage forum but a lot of you all that I know in here are not members in there but we found something that is wrong with me and could be a clue.

So, I've had 4 miscarriages (Sept 06, July 08, March 09, and August 10)  and my doctor that I had during my miscarriage in March of 09 did a lot of blood test on me once the hcg was out of my system.  He told me that I had a deficiency in B6, B12 and Folic Acid.  Never did he tell me I have a mutation in my DNA or wherever.  How can you NOT tell someone that they have a mutation on their chromosomes or in their blood, just that they had a deficiency in B6 B12 and Folic Acid?  They were AMAZING doctors but left town.  I feel that if they were here for the fourth pregnancy they would have figured something else out.  Needless to say they left in January and I got my medical records from their office Monday...and I find that I have the MTHFR deficiency...with mutations found in C677T/A1298C.  They say that its a rare disease and has a severe side and a mild side...and the type I have IS mild.  I haven't had much research on it but it says that 1 in 200,000 american have it.  It's not specifically from the mother or the father it can come from anywhere.  I just wanted to pass this information on as it is found in 35-40% of North Americans.  I'm still researching a lot about it and treatments for it...I'll post more.  Just wanted to say to ask your doctor if you have reoccuring miscarriages.  You can carry full term (give birth and the child be 4-7) and then learn you have this.

[Dragon1973]

Please see here for more information regarding MTHFR:

http://www.medhelp.org/forums/MTHFR-Methylenetetrahydrofolate-reductase/show/961

And if anyone has any questions regarding MTHFR, please do not hesitate to call on me for help.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator

[Annie_PE]

I have homozygous MTHFR C677T, which is the really bad kind.  My husband and I tried for almost 2 years to have a healthy pregnancy.  I got pregnant 4 times but lost each very early on (the longest went for 5wk4d).  After the 4th loss, my doctor did the recurrent miscarriage panel on me and found I carried 2 copies of the C677T defect (no other issues).  I was told to take one baby aspirin and loads of folic acid/B6/B12 daily.  Within one month of starting this I became pregnant and am now entering my second trimester.  This has so far been a perfect pregnancy and we just saw our baby's precious two arms, two legs, and heart beating at 158 bpm at last week's ultrasound.  It can (and will) happen!  The funny thing was that at our last appointment my regular OB said that this pregnancy likely had nothing to do with the extra vitamins/BA, but was just luck.  I completely disagree.  My high risk OB said that she has seen at least half a dozen women with the most severe form of MTHFR carry healthy pregnancies after 6-8 early losses, once they start the treatment.  Don't give up hope!  I almost did - but am so glad we didn't stop searching for answers!!!

[shasy03]

jessmoss626- I plan on getting my health insurance straight and then seeing this other doctor or going to a ob specialist.  I plan on asking a ton of questions since I know it is there.  My other doctor (That I loved and they moved) put me on 4 mg folic acid, 500mcg B12 and 100mg of B6.  But I'm still having miscarriages, so I don't know what the next treatment will be.

Joy- I am at a loss for words....I knew he said there was a deficiency in B6,12 and Folic but it was never explained at a mutation of chromosomes.  Why are doctors never competely honest?  Why don't they tell you EVERYTHING?  I'm just hoping that I can find someone who will figure a treatment out and it work.  I'm also staying hopeful that a baby is in the future.  As of now, I have to wait 6 months for insurance to kick back into effect.

[JoyRenee]

Shasy, this is astounding! So unfortunate they didn't tell you but it gives me hope for you that you WILL have a baby!!!

[jessmoss626]

I'm not sure what that means cause I only know what I've heard from my sister, a dr should be able to tell you whether you're homo or hetero, I know she was started on a very high folic acid supplement and I think a baby aspirin each day. Not sure what else. Good luck, I hope you get more info, I've seen a few things online and I think somewhere you can find message boards only about it! Those ladies would probably be able to help you a lot more!

[shasy03]

I read in an article that it is rare...but the more and more I read on it, it seems like there is more and more people with it.  I am not sure if I am hetero or homo.  I have the C677T and A1298C mutations, but it is considered a mild deficinecy..I'm so lost.

[jessmoss626]

My sister has MTHFR, she hasn't had any pregnancies yet, but has already started dealing with her OB to get ready. Her type is heterozygous (sp?), I don't know too much about it and was not aware that it was rare. Her doctors seem quite positive that she'll be able to carry children to term. I also saw a very recent study, I didn't read much about it but it seemed to imply that the miscarriage rate can be much smaller with dr intervention. Maybe if you search recent studies you could find it, good luck.