Re-Intro and MTHFR

Ski&Sail09

Hello- I haven't been a regular on the bump in a while. I introed here about 6 months ago but then took a break. DH and I have been TTC for 3 years, 5 IUI's, no pregnancies and are now planning IVF for Jan/Feb.  I tested positive for compound heterozygous MTHFR this week and am starting to research and find other ladies in the same situation. I have not had my homocysteine levels checked yet. Anyone else have MTHFR? What has been your experience and protocol so far?  I?m on Deplin 7.5 right now. My Naturopath is the one who ran the test on whim and out of curiosity so we?ll see what my RE thinks at our IVF consult on 11/21. I'm afriad since I have not had any losses he may not take is seriously.

eponine7682

Welcome again. I will be doing my first IVF in January as well!  Best of luck!

ranthony37

Welcome! I'm new here myself and am just starting our TTC journey. My DH had testicular cancer when he was 20, banked 4 viles of sperm prior to his surgery to remove his testicle, had RPLND surgery, and now has permanent retrograde ejaculation. Needless to say, I knew we'd be TTC with fertility treatments before I even married him so I can't complain too much. We have our RE consult on 11/18 to discuss IVF (possibly with ICSI) using the frozen sperm first, or potentially mesa/tesa to retrieve any fresh sperm. Still trying to figure out our best option. 

Anyway, relatively speaking, I've been "normal." I had a genetic consult a few months ago and was also diagnosed with MTHFR, although they didnt tell me my mutation was "compound heterozygous" (what does that mean?). She said my mutation of the gene was "not a big deal" and "should't cause you any worry." The RE prescribed me Folplex (folic acid) supplements that I've been taking since then. There's lots of info on MTHFR but according to my RE it's manageable. 

Best of luck to you! 

Ski&Sail09

Compund means I have one copy of each. 44% of americans have one copy of one mutation  from what I'm reading is not that serious. I have both copies so what I'm reading is it usually takes a more aggressive protocol. I think I read 5% have both copies and even fewer have double of one.  Below is some info I found that helps explain it. I'm still learning and I've read that doctors vary GREATLY on whether it's a fertility issue or not. I think the key is knowing what your homycysteine levels are. If those are elevated then you have risk for blood clots. I haven't had that tested yet.

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MTHFR mutations come in two forms: A1298C and C677T. If you have one copy of one mutation, you are "heterozygous for A1298C" or "heterozygous for C677T", depending on which one you have. If you have one of each, you are "compound heterozygous for MTHFR mutations". If you have two copies of one mutation, you are "homozygous for A1298C" or "homozygous for C677T". According to Dr. Beer (a world-leading reproductive immunologist you'll read a lot about on this board), this is the order of severity of the different mutations:

1.) most significant = homozygous for C677T
2.) next most significant = compound heterozygous
5.) least significant = heterozygous for A1298C

I know that "homozygous for A1298C" and "heterozygous for C677T" are numbers 4 and 5 in terms of significance, but I can't remember which order...

 

1.     C677T & C677T (Two C Copies - C677T Homozygous)
2. C677T & A1298C (One Copy of Each The C & A - Compound Heterozygous)
3. C677T (One C Copy - C677T Heterozygous)
4. A1298C & A1298C (Two A Copies - A1298C Homozygous)
5. A1298C (One A Copy - A1298C Heterozygous)

 

sweetsurrender9

I'm an A1298C carrier (heterozygous), and currently take baby aspirin and 4 mg of folic acid daily.  If I get pregnant, I'll be on Lovenox the length of the pregnancy.  My clinic is very aggressive when it comes to MTHFR, especially because my family has a huge history of neural tube defects.

theworms

most RE's treat this mutation with r/x folic acid and baby aspirin

GL 

Holly TH

Ski&Sail,

I think I might have responded to you about this on Yahoo Groups so forgive me for reposting.  I am so sorry that it has been so difficult for you to become a mother.      

Women with the MTHFR polymorphism have an inhibited ability to break down folic acid into its usable form, L-methyfolate, which increases their risk for folate deficiency induced pregnancy complications.  Women with MTHFR have also been shown to have an elevation of homocysteine concentrations of approximately 20%.  An elevated homocysteine level is an independent risk factor for the development of occlusive arterial disease in the coronary, peripheral and cerebral vessels as well as peripheral neuropathy.   I work with NeevoDHA, a prenatal vitamin indicated for women with MTHFR.  It is made by the same company that makes Deplin.  Nearly all cases of elevated plasma homocysteine will be reduced with an adequate combination of L-methylfolate (found in NeevoDHA, Metanx, Deplin, & Cerafolin), Vitamin B12 and vitamin B6.  L-methylfolate is the only natural, active form of folate that is immediately and completely bioavailable and is unaffected by the MTHFR mutations.  

I think it is a very good sign that your RE has put you on Deplin. That would indicate that he is taking your MTHFR and folate status very seriously, which is so often not the case.  Because you are taking 7.5 mg of L-methylfolate, you should not have to worry at all about your folate status while trying to conceive.  

Best of luck with your IVF. 

Carolee

I have homozygous MTHFR (677t) and have been told by 3 doctors that unless my homocysteine levels are abnormal, all they recommend is baby aspirin and high dose folic acid (I'm on metanx).  I have since found out that I also have lupus anticoagulant, so RE is having me start heparin immediately after we have our embryo transfer.  GL to you - I hope your consult goes well!

Ski&Sail09

Holy- Yes you did. THANK YOU!  I should mention that it was Naturopath that tested me for this after being at a seminar and hearing about of signs of this. My RE doesn't know yet, I meet with him on the 21st and we'll see what he thinks. He is one of the best in the country so I'm hopeful he will want to treat it with the IVF.

mystic_J

Hi Ski&Sail! I remember you from GP/T-TTC. Good to see a familiar face, though I hate the situation we both find ourselves in. Good luck girl! I am rooting for you!!

Holly TH

Ski & Sail,

I hope your appointment goes really well and your RE is willing to be proactive.  You are ahead of the game by being on Deplin right now.  Folate deficiency related pregnancy complications should not be an issue when you get pregnant (fingers crossed!!!!!!)  Best of luck.  I will keep you in my prayers.