Postivie for One Copy of the A1298C Mutation

I was diagnosed positive for one copy of the A1298C Mutation after mulitple miscarriages.  I am 39 years old.  My first pregnacy went without any complications in 2000 and I have a healthy 9 year old.  What does this mean for future pregnancies and what are my risks while pregnant?  Are the risks for life after pregnancy and beyond? My husband and I are trying for one more.  The doctor told me to go ahead and take baby aspirin and b complex.  She also said if I become pregnant they would start me on shots at around 10-12 weeks post conception.

[Dragon1973]

Hello Suekpurple,

I am so sorry for the late response.
I have a son with Down syndrome, and I had a recent miscarriage back in June.  These two incidents prompted me to have the same genetics test which you are referring to, called MTHFR.

The thing about MTHFR, besides all the conflicting studies and non confirmed studies regarding this mutation, is that it occurs in 1/3 of the population.  It is extremely common, and there is much debate over what types of treatments actually work with respect to this mutation.
The regimen you are on, is the one most often talked about.  The thing that I think is missing from the regimen however is 4mg of Folic acid, which is what this mutation prohibits absorption.  I myself am currently taking low dose 81mg baby aspirin, a full b complex and also 4mg of Folic acid.  The Folic acid is the single most important part of the regimen because the absorption of Folic acid is what is blocked by the mutation - which is why some doctors believe that miscarriages are caused along with the possibility of Down sydnrome or Spina bifida.

If there is anything in addition that you would like to know, I have several several resources regarding MTHFR mutation.

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

[Dragon1973]

Hello SuekPurple,

I just thought to add, (I forgot to mention that your post was in the Down syndrome Forum, and I am having it moved to the Genetics Forum).  

I wasn't sure if my post helped you, but if you ever needed to chat about your diagnosis, please feel free to message me.  My MTHFR variant is the C677T which is the other common variant to yours.  I too (like you) have one copy which means we are heterozygous.  The two are the most common of all the MTHFR mutations.  So if there is anything else you would like to know about it, please do not hesitate to message me.

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