Saturday, October 11, 2014

MoTHerFuckeR

I am not a scientist.  I don't play one on tv.  I had a double major of history and art history in college.  I was a dancer.  I went to law school.  But I instinctively sense that the elegance of our universe is not such that everything is random.

The (few) people who know what my family is facing right now have noted the unfairness of it all.  The random, freakish nature of this experience in my fourth pregnancy since Niblet.

I am exhausted from reading at all hours of the night and morning.  My brain is jumbled.  But in my searching for "answers" to all of this - -  beyond the mere "why the fuck do I have such incredibly sucky luck" - - I found a paper produced by a team of geneticists.  Concerning a correlation between my baby's specific 1:10,000 birth defect and MTHFR.  Specifically, the 677c-->T gene mutation that I carry.  The gene mutation that every single fucking doctor I have ever met with has dismissed as a cause for concern in my reproductive life.  A gene that can impact the methylation process in cell development when a baby is in utero.

The paper suggests using folate supplementation as a way of reducing the risk of such defects.

I feel slightly fucked.

6 comments:

  1. I'm so very sorry- this is all so unfair- I know a woman who lost multiple babies to ancephaly before they finally took her seriously & tested her- she too has MTHFR too but not sure the same mutation. Once she began her folate regimen she went on to have two healthy little boys. I'm sending prayers your way that your little girl's condition is correctable & am so sorry you're going through this. This journey has taught me that md's don't have all the answers (even my beloved uncle, an ob)... hugs your way...

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  2. I am so sorry for all you have been going through. Are you homozygous or heterozygous for MTHFR? I also have the 677c mutation and was told by Re and OB that because I only have one copy of the gene and so it was not a cause of my miscarriages. I have been taking Thorne basic prenatal (methylfolate) for a year now just to be on the safe side. You can purchase it on Amazon. Hugs!

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  3. I am homozygous for the 677c mutation. I have yet to find a single OB or RE in my rather large city (and I have burned through many) who seem to acknowledge it as an issue at all. I am completely on my own. I was taking both Thorne and Seeking Health prenatals with methylfolate for months, in addition to baby aspirin when I lost her.

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  4. That is shameful that your Ob and Re do not take your homozygous mthfr mutation seriously. That is the first thing Ob tested me for after my 3rd miscarriage. I am sorry that even with the methylfolates you still lost your angel. :(

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    1. I know. Everything I have ever read says I am carrying the most dangerous mutation, and ever doctor I try to explain this to tells me to stop reading papers off the internet. Even an NIH published report linking folate deficiency and omphaloceles couldn't convince my genetic specialist that maybe this was a preventable situation.

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    2. And by preventable, I mean by adding more methylfolate. I was already taking a ton of it, sadly :(

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