What the MTHFR???

So in preparation for our upcoming post-(recurrent)miscarriage follow-up appointment this coming Friday, I requested a copy of all of my medical records so I could review them in advance.  The receptionist told me that I would have to pay $2 per page since I wasn't requesting the records to be transferred to another physician.  After the money we've already spent, what's $2 per page at this point?  I told her I didn't care and that I wanted the records at least 1 week before our appointment so I would have enough time to look them over.  The records arrived about a week ago with a highlighted notation that said "**no charge**".  I guess they must have felt bad for me and decided to cut me a break or something.  However, they didn't include copies of any of the records they have that were transferred from our former clinic so I guess I will need to request those separately.

As I was reviewing the records, I was pretty annoyed when I came across a lab report from the initial bloodwork I had done in November after my second miscarriage which indicates that I am heterozygous for MTHFR C677T.  This was news to me.  No one told me about this and I bet I still wouldn't know about if I hadn't requested my records.  I've since done enough Google research to know that this particular mutation may or may not have something to do with my recurrent pregnancy losses depending on whose medical opinion you choose to believe.  Based on the fact that my RE never shared this particular result with me, I'm assuming he thinks that this mutation does not play a role in my miscarriages.  And, actually, if I'm understanding everything I have read thus far correctly, it isn't the mutation itself that is exactly problematic; rather it is just an indicator that I might be prone to having elevated homocysteine levels which are known to be associated with clotting disorders.  From what I can tell, my homocysteine levels have never been tested.  I will definitely be requesting further tests in this regard when we meet with our RE on Friday and also asking him why he never shared this information with me before.  I also learned that elevated homocysteine levels have been linked to cardiovascular disease which makes me wonder if this could also be the cause of the consistently high cholesterol levels I've had my whole life despite being a relatively athletic and fit person.

Maybe this isn't the answer, but I am holding on to a tiny bit of hope at the moment that it is and that once it has been identified as a potential problem that we will be able to address it in some way that will help me carry a pregnancy to term.

Any other RPL veterans out there who have had experience with this MTHFR-ing gene?  Which mutation did you have?  Any success stories post-diagnosis and treatment?  I'd really love to hear about them so I can be prepared to ask my RE some very specific and pointed questions on Friday.


  1. I have no idea what MTHFR is, so I'm sorry I don't have anything productive to add. But I stopped by from ICLW and I absolutely love your blog title and layout! Very cute and creative.

    Wishing you the best this week!

  2. Doesn't it bother you how conveniently doctors leave information out even if they may feel it's not meaningful!

    I'm a bit peeved with mine at the moment. Thankfully I've been able to have a copy of my test results as I've had them done.

    I hope you get some answers.

  3. I also have that same mutation of heteroMTHFR. My RE doesn't seem to think it had anything to do with my losses, but he put me on aspirin as a precaution, and I still miscarried after that. I'm getting a second opinion from another RE in a few weeks and I'll see what he has to say about it.
    Good luck to you and I hope you find some answers!