Anyone have the MTHFR homozygous A1298c gene mutation?

Mauilovespink

I just found out that I have the homozygous A1298c MTHFR mutation.  I have had 2 pregnancy losses.  The first was a possible, but never confirmed, ectopic.  Second was a 4 1/2 week natural miscarriage or chemical pregnancy.  (sac never seen)  I also a few family members with Factor IV leiden or some varient, so my OB wanted me to get tested for that and other disorders since I had back to back losses.  I am negative for Factor IV, thankfully.  But, I do have the MTHFR mutation.  My OB suggests I see a Genetic Counselor about this.  Does anyone else here have this mutation?  Are you on any meds?  Did you see a Genetic counselor?  I have been searching google (bad me!) and not found any good answers.  Thanks for your time!  p.s. I have been posting a bit on preg. loss and mc board but never on infertility...but it seems I might have some issues when we sart TTC again.

hollymichael

Yes, I am homozygous a1298c. It is my understand that this is the "milder" form of the gene. Did you have your homocystine levels checked? Mine are normal. Two different REs and my hematologist (who I see for a different condition) say that lovenox is not needed since my homocycstine levels are normal. I may need lovenox next cycle, but it would be to treat a different clotting condition.

I am on folgard which is extra folic acid and b vitamins. This is usually recommended if you have any of the MTHFR genes.

I do not know why you would need to see a genetic counselor for this. It is a pretty common condition. If you have been TTC for longer than a year, I would recommend making an appointment with an RE.

Edwina.McDunnough

I have a different mutation with normal homocysteine levels and was told that generally having 3-4 mutations is of concern, one not so much. I was advised by 2 different REs to take extra OTC folic acid rather than Folgard.

easjer05

Yes, I do.  Found out in the testing after my son's premature birth.  I only saw the RE once, when he did the shg that pinpointed the real issue.  He said that was the only thing that had turned up and that RE's are split on whether or not it causes issues in pregnancy (being one mutation and the milder one) though he said he personally believed it did.  He went on to say that it didn't have any impact on my issues with Gabe's pregnancy, but he was not surprised to hear of my miscarriages before Gabe or that I had been taking extra folic acid when Gabe was conceived (having recently received methotrexate to end a cervical pregnancy).

He did not advise further testing or genetic counseling (but I'd had an extensive panel done and my karyotyping and family history are normal), but did say I would be put on Folgard and baby aspirin for my next pregnancy.  My OB said I didn't have to take Folgard, but the individual breakdown I was doing was fine (prenatal, extra folic acid, extra b6 and b12 - essentially the composition of Folgard). She said I could take baby aspirin if I wished to, she didn't care either way, and that I should not require any stronger blood thinner. 

(The issue in my son's death was an undiagnosed incompetent cervix caused by damage from the cervical pregnancy.  All the testing was done because of extensive bleeding and clots during the pregnancy which turned out to be largely due to placenta previa covering the damaged portion of the cervix.  Before that was determined, they wanted to rule out any blood clotting issues that might lead to implantation problems or placental problems.)

wheelber

I have homo MTHFR, diagnosed after with the RPL after my 2nd loss. My OB immediately switched my prenatals to Prenate Elite which contains L-methalfolate, a type of folic acid that we can absorb (we only absorb 20% of folic acid, B6 and B12 that we consume). I At that point I too was consulting Dr Google and convinced that I should use Metanx and Lovenox. Metanax is a drug (essential a Rx vitamin that contains L-methalfolate, B6 and B12 again all in forms that we can absorb). I took this info to my OB, she now prescribes Metanx to all of her MTHFR patients. As for the Lovenox, we consulted a hemotologist and he said that it probably wasn't necessary. 

This wasn't proactive enough for me, so that is when we started seeing our 1st RE. He felt that my protocol was appropriate and so we continued with the Prenate Elite and Metanx, but he refused to allow me to take lovenox, no matter how hard I pushed. I had another miscarriage with this practice..... and again I didn't feel we were being proactive enough.

I switched to my current RE. He believes that MTHFR definately should be treated. I am now on Prenate Elite, Metanx, Lovenox (from O to end of cycle/1st tri), Baby Aspirin, B6, B12 and Calcium while I am TTCing, but that I should take Metanx for the rest of my life.

From all of the research that I have done, we should be fine, as long as we are proactive in our medications. I posted the links to the 2 meds that I referenced. And as PP said, I would definately consult an RE. If I have learned anything through out this journey is that you must advocate for yourself!

Good luck!!!!

https://www.prenate.com/prenate/elite/protection.aspx

https://www.metanx.com/WhatIsMetanx

Mauilovespink

Thanks everyone...your advise helps.  It's scary to find out something is wrong with you that you have never heard of and it's nice to hear that others are going through the same thing!