Wednesday, April 11, 2012

MTHFR Mutation

Wow, where do I even start? Before I start talking about MTHFR let me tell you how I got here. Before we decided on a IVF doctor we decided to do our research. After much research we found our self going back and forth between two facilities. After reviewing data, and researching everything possible we made our decision. Until today. I had to get some immunology blood tests done at clinic A and I recieved the results which came back as me have a MTHFR mutation. Now at first my heart sunk to the floor and tears flooded my eyes. I felt lost, what was this. Why me? After much research and talking to my RE I found out the following about my mutation gene.

First off, its not an abbreviation for a swear word. Trust me at first I wanted to think it was. MTHFR is an acronym for Methylenetetrahydrofolate reductase. It is both the name of a gene, and the name of the enzyme which that gene produces. Individuals with a mutated copy of this gene produce an enzyme that is less effective at breaking down the amino-acid homocysteine. The mutation can occur at one of two sites on the gene. Since we receive two copies of each gene, one from our father and one from our mother, there are a few different possibilities for the disorder. The C667T mutation can be heterozygous, one mutated copy, or homozygous, with both genes having the mutation. The same is true for the A1298C mutation. Compound heterozygotes have a single mutation at both the C and A locations. A person with the homozygous C mutation can only produce the defective MTHFR enzyme. These individuals are at the highest risk for developing hyperhomocysteinemia - an excess of homocysteine in the blood, especially if their dietary intake of folate is low. High levels of homocysteine damage the blood vessels, leading to an increased chance of developing blood clots, which in turn elevates the risk of deep vein thrombosis, pulmonary embolism, heart attack and stroke.

So having this MTHFR mutation means you don't absorb folic acid, B6 or B12 correctly. At first, you may think well who cares, but this is huge! You need all of these to have a successful pregnancy and to be able to hold the pregnancy long term without miscarriage. I mean this is huge. Many women out there have this mutation and have no clue. After much talking to a couple great ladies out there who had this mutation gene and have been able to have successful pregnancies, I have great hope. I just have to make sure I get a cocktail of medications before and during. Basically, I can't take over the counter folic acid but a much higher dose.

I'm glad to have found this out now and not much later.


Tommalie said...

That's very interesting. Just another reason why getting pregnant is like rocket science!

Jamie And Courtney said...

Wow! Science is great :) I'm happy you were able to figure this out now & take the right road to a safe & healthy pregnancy!

I am hoping my thyroid issues aren't anything super serious & that we can manage everything with a simple medicine cocktail too :)

Lexi & Sarah said...

I agree getting pregnant is rocket science! Its amazing what we can find out now days. I think that this test should be a prerequisite for women going through any TTC journey!

Anonymous said...

So if you don't mind my asking what did the dr have you on for mthfr? Did you have to take shots to prevent blood clots and what types of supplements did you take? We're needing to do IVF and I have mthfr but am worried that I'll miscarry or have birth defects due to mthfr were you required to fix the folate levels before trying ivf

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