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Sunday, November 9, 2008

What is MTHFR?

I've seen many posts on the online forums which I visit and have received questions from many others about the MTHFR genetic mutation. This is my perspective.

Disclaimer: PLEASE consult your own medical professional and do not consider my thoughts and opinions in your own treatment. Everything included herein is not based on information from a medical professional. (I am an elementary school teacher!!) Everything written here is based upon MY personal experience and research. I cannot/will not be held liable for erroneous information or for those seeking answers or treatment.

MTHFR - methylenetetrahydrofolate reductase - is a gene that we ALL have. So if someone says "I have MTHFR," of course they do! However, some of us unfortunately have mutations of the MTHFR gene which can cause miscarriage and Recurrent Pregnancy Loss. The MTHFR mutation causes the body the inability to absorb folic acid (vitamin B9) and may also cause clotting issues, both of which are vital for a successful pregnancy. It is possible to carry a successful pregnancy with the MTHFR mutation, but the risks are higher for cystic fibrosis and other neural tube defects due issues with folic acid deficiencies.

Testing of the MTHFR gene is simple. One of the standard tests in the RPL panel includes testing of the MTHFR gene. This blood work can be drawn to test for many disorders which might explain RPL in some women. Many insurance companies do not cover costs of the RPL panel until three (3) or more miscarriages have been diagnosed. Check with your insurance company or "work" with your doctor for coding should you require/need/want RPL testing prior to three (3) miscarriages.

Very little information is available on the MTHFR mutation because it was discovered just a handful of years ago. There is some information available on the internet, but much of it is in medical journals which can be difficult to decipher and comprehend. The resource I have found to be the easiest to understand in my research is here.

There are homozygous and heterozygous mutations of the gene, and each can create different issues depending on the type of mutation one carries. RPL results will show the exact mutation(s) although treatments are often the same.

* Typical protocol for treatment includes an increase in folic acid (appx. 4mg daily) , a daily dose of 81mg aspirin (the same dosage of baby aspirin), and the possibility of blood-thinning injections during pregnancy. Some doctors increase the intake of vitamins B6 and B12. Of course, all women trying to conceive should take prenatal vitamins - either prescription or over the counter. An OB/gyn should have patients do a fasting blood draw to test your homocysteine levels. If they are elevated, he/she will most likely prescribe Lovenox or Heparin shots upon a positive pregnancy test.

My diagnosis & treatment: After two early m/cs (both at 8.5w), my amazing OB/gyn felt it would be smart for me have the RPL panel run. He coded my paperwork so that my insurance would cover the testing without question. I was found to have a homozygous MTHFR mutation of the C677t, which means that I have two copies of that gene. My Rx includes 4mg Foltex each day, plus my PNV (which also contains f/a), and an 81mg aspirin each day. When tested, my homocysteine levels were not elevated, but my ob/gyn wants me to have Lovenox injections with my next bfp because (1) I've requested it because I feel in my gut that it will help, and (2) he's proactive and willing to "pull out all the stops" for me to have a successful pg. He's an awesome doc.

Hope that helps to answer some questions and provide information that might help you or someone else.

12 comments:

Laurie said...

Wow! Thanks so much for all the info. Hang in there. Are you able to go to work today?

Maria (MKC101103) said...

So many women shutter at the thought of having to give themselves daily Lovenox injections. I'm here to say they're really NO BIG DEAL. It's totally worth it to take 2 minutes out of my day to give myself a little needle. You'll see what I mean in a few short months ;)

Molly said...

You're just a wealth of information today.

So, tell me about this Super Sperm Dance? lol

Jen said...

I have homo MTHFR too! Welcome to the club!

I do a regular prenatal, plus 4mg additional folic acid. I also do lovenox shots during pg because my homocysteine levels are elevated and because of my preeclampsia history.

the shots aren't bad. I still hate them, but they are bearable.

KandiB said...

I had no idea such a thing existed. Thanks so much for giving the low-down.

Silvina said...

I just read your blog and found this very interesting. I have the homozygous mutation of MTHFR. I take my pnv, 4mg folic acid, and a baby aspirin. My ob/gyn decided this was the best treatment for now. He did say once I get a BFP I might have to give myself heparin shots, but I'm assuming after he tests my levels. It's glad to know there is someone out there with the same thing. I have had 2 m/cs and had the RPL blood panel done on me. Thank you so much for the info.

Trish said...

Thanks for the info.
After Robbie came so early, I was tested and have a heterozygous mutation. The "funny" part is that I was already taking BA and 4mg of folic acid just as a "might help" decision after my 2 losses.
If we ever decided to try for another, I assume I'll be on lovenex or something similar no matter what my levels.

Vivian said...

hey Kris; wasn't bragging with the extra mutation, wanna take it its all yours!!! seriously i'm glad i have someone i "know" to talk about this with, my IRL friends look at me like huh?

abgs said...

I remember when I went thorugh my first IVF I was tested for this, and the test took forever to come back. I am from Canada and they only test or so they say for one mutation the C one.. as I recall.. and that one is the better one or so they say..

There is so much out there. How do we ever just relax and not worry.

Wishing you all the best in your TTC.

Christie said...

this is a delayed comment, but i wanted to say thank you for this post!! i'm currently pg with #4. after 2 perfect pregnancies, my 3rd gave us quite the scare at the end at we almost lost her. it was found that her placenta was filled with clots. enter this pg, where i was discovered to have the same mutation of the mthfr gene as you and have been researching like mad any and all info on this. thank you!! i wish you all the very best!!

Teri said...

Hello - I just stumbled onto your blog today (searching the web for RPL b/w info) as I just found out (literally an hour ago) that m/c #2 is imminent, this time with donor eggs. I haven't stopped crying...

I'm going to push for RPL b/w since we have 2 embies frozen from our DE cycle & then we're DONE (no more embies, no more money)...technically I've m/c 4 times, if you consider that 2 were transferred for each of my IVFs. Hopefully my RE will see it my way...thank you for your info

MISTY and CO... said...

Thank god for blogging. You have a gift for sharing you heart and raising awarness.

Know I always think and pray for you and dh.

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