Saturday, May 2, 2009

Visit with the geneticist

We finally got to visit the geneticist at the end of April. She was very nice and seemed pretty knowledgable. She was not concerned about the MTHFR gene mutation because of my specific mutation and lack of trouble with my homosysteine levels.

The Prothrombin Factor II is more of a risk though and is worth talking with doctors about the aspirin recommendations.

She also was concerned with the triploidy from our first loss. Apparently there are two ways an egg can be fertilized twice. Either two sperm fertilize the same egg or one sperm fertilizes it and then the egg also fertilizes itself. This can sometimes happen where an egg will fertilize itself in the absence of a sperm. It's then considered a molar pregnancy. The strange thing is that molar pregnancies increase your risk (forever) of a certain type of cervical cancer. So the geneticist thinks I will always need to test my pregnancy hormone (take a pregnancy test) to make sure I don't get a false positive. If I ever got a false positive it would mean I have the cancer. Obviously - this is another point for more research.

I was also told to talk with all of my family members about the importance of talking with their doctors about the gene mutations - since all of us can have the same mutation.

On another note, after going over Mike's family history, (pretty much everyone on his maternal side has had recurrent pregnancy loss) she recommended a chromosome test on him just to see if there are any issues there. It is surprising to me how little attention they pay to the father's role in any of this.

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