MTHFR

I find it super fitting that my latest diagnosis is for a mutation in the MTHFR gene, because my first thought when I see that abbreviation is "motherfucker." Which pretty much sums up my gut reaction to every single piece of reproductive news we have heard this year.

Essentially, having a MTHFR mutation affects folic acid use and metabolism by the body. I have a heterozygous mutation, which means that of the two copies of the genes that exist in my body (one from my mom, one from my dad), one copy is normal, and the other copy is mutated. From what I have read, this means that the body functions influenced by this mutation operate at 60-70% capacity. If you have a homozygous mutation, or a mutation in both copies of the MTHFR gene, your functioning is significantly lower. From my reading, it is important that your homocysteine levels are checked in conjunction with your MTHFR genes, as MTHFR transfers homocyteine into another compound in the body (I can't remember the details), but its common for your homocysteine levels to be elevated, which can lead to cardiovascular problems and body inflammation.

This sounds pretty scary but the treatment is actually pretty easy. For me, all of my other values were normal, so I just have to supplement with a prescription called Folgard. Its a high dose of folic acid, with some B vitamins thrown in. For individuals with a more severe mutation or abnormal values, methylfolate and B vitamins are prescribed, however, your lab values should be carefully monitored to make sure that you don't go from under-treating to over-treating as these vitamins come with significant side effects when on inappropriate doses.

So, another diagnosis to add to the list and I haven't had even a fraction of the tests that Mr. New RE wants to prescribe. If I had a dollar for each infertility diagnosis...I could pay for an entire IVF cycle! 

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