Thursday, July 17, 2008

Genetic Test Results

I got a call Tuesday from my doctor that my genetic test results were in... and sure enough I have a genetic mutation on one of the key genes in carrying a child. There was some confusion about how serious it is, but apparently I have another test to determine the severity. I will have more information after my appointment on the 25th. All I really know now is that this mutation causes miscarriages and genetic disorders on the baby (anything from down's syndrome to turner's) and also very high risks of preeclampsia.

I've told a few people and they don't seem to think much of it. I am very aware that miscarriages can happen to anyone but I have a 58% with PCOS alone and now this. So it is a big deal!! I kind of want to give up talking to people about it because no one understands.

I'm laying low today, trying to get caught up on cleaning and laundry. I need some motivation!!

Time to go take half of my 13 pills a day!

EDIT: Dr. Goff just called (yes, at 7pm... he is the shit) my exact mutation is MTHFR c677t. He was getting ready to tell me the name of it and hesitated and then said "there is an abbrievation for it..." and I said, "Is it MTHFR?" and he said, "haha yes it is." So bam... I'm smart.

1 comment:

Texas Lisa said...

So what does the DR suggest you do as far as ttc?