Test Results

Well, I guess I've procrastinated long enough with all the drama that's happened in the last week about Lillian's genetic testing. It's just so much easier to put it in the back of my mind if I don't have to talk about it. So this is going to be short and sweet.

There are three known ways to develop PWS (all of them having something to do with the paternal chromosome 15). One is by deletion of the paternal chromosome 15. This happens in about 70% of diagnosed PWS kids. The other most common is when the child gets 2 copies of chromosome 15 from mom (instead of getting one from mom and one from dad). This happens in about 25% of diagnosed PWS kids. The third is an imprinting defect in the paternal chromosome 15. This happens in about 5% of diagnosed PWS kids and there is a 50-50 chance that any child the father has will receive the chromosome with the defect instead of the one that’s working correctly.

All three tested negative.

How is that possible you ask? Because it did. I'm still not quite sure. But basically it was a type of imprinting defect (yeah, the bad one) that made its way onto the 15th chromosome passed down by Phil, from his mother. So basically a tiny part of that chromosome is still female (from his mom), which resulted in PWS. (Yeah, my daughter has more grandma in her than we bargained for)

What does this mean? I don't know. One genetics doctor says it's a low chance for recurrence, and the other says it's as much as 50/50. The "Debbie Downer" geneticist, as I so loving call her, is still unsure about the results and is waiting to speak more with the lab that conducted the tests. Her advice to us was to "be careful" regarding conceiving any time soon. THANKS A LOT LADY. That's stellar advice.

So worse case scenario we get pregnant, have prenatal genetic testing done, and if the embryo has PWS, we decide whether it's cruel to bring that child into this world and abort, or decide that the life we created is just that, a life, and continue on with the pregnancy.

Who wants to walk in these shoes? Don't everyone volunteer at once...

We're meeting with some (optimistic) doctors in Florida in about a week and a half to see if we can get any more details on the odds that we are up against.

So that's the low down. And here's my attempt to change the subject....

*Did you notice the blog makeover? Of course you did :). It was a great way to procrastinate actually writing this post. (Denial much)

*Lillian rolled over for the first time Saturday and the second time Monday. I got the second one on video, but because her clothes are hardly hanging on and she looks a mess, I might not post the video. Shallow? Maybe. But she'll thank me when she's older.

*I picked up a few new crafting hobbies - pictures to come.


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