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.
2.27.2010
2.17.2010
2.14.2010
2.05.2010
What a Big Day!
The day we've been waiting for. I never heard the UPS truck in our driveway but Phil appeared in the living room with a big brown box and I just knew what was inside. Opening that box was like opening the gift of life for Lillian. We took out every item and spread them out on the floor in our living room. We read over every piece of information carefully, soaking it all in.
After we fed Lillian her dinner we both agreed it was a good time to try for the first time. She had a full belly and was perfectly content sitting on my lap while I sang to her and pretended to nibble on her fingers. Phil prepared the medicine just as the instructions listed and I distracted her as he gave her the first growth hormone injection. She wiggled around a bit and looked around as if she was trying to figure what was going on... and then it was over. We both let out a huge sigh of relief.
I can't help but feel like this is the day we gave her life. I know that God brought her into this world four months ago with a plan that is too big to understand, but I feel like what we started for her today is giving her a second chance at life. We're giving her the chance to not fall behind and whether or not it makes a big difference or a little difference, at least we are doing everything we can for her.
So now this is our new normal. We'll do this every day for as long as it takes to help her develop and grow physically and cognitively. We're so proud of her progress this far and so thankful we can help her muscles develop more so she can move and play and smile and enjoy life the way she deserves to.
Earlier this week Lillian had a swallow study to test her ability to take her bottle and to check for aspiration. The results didn't come out as we were hoping, but we know that with time her body will strengthen and she will make improvement. The doctor suggested we rub a little food on her lips and let her explore different tastes without actually feeding her the food (and the extra calories). Today she had a little taste of blueberry pomegranate applesauce :). Seeing her explore the taste and texture of this foreign substance on her lips was priceless! As difficult as it is to wrap my mind around WANTING her to eat food, it's so important to instill healthy eating habits in her. We had all intentions of feeding her veggies first, but the applesauce was already in the refrigerator and it's organic with no sugar added... so it felt OK. I might puree some veggies sometime this weekend and let Phil experience the fun of watching her explore this new sensation.
(Lillian tasting blueberry pomegranate apple sauce!)
We're still waiting to actually start feeding her solids until she's 6 months old, so I'll probably just let her experiment with this "lip gloss" method a couple times a week.
Hopefully tomorrow I'll have enough time to finish Lillian's blue and white tutu for the big Super Bowl game Sunday! We'll post pictures Monday morning after the Colts beat the Saints as a celebratory blog post :D. GO COLTS!
After we fed Lillian her dinner we both agreed it was a good time to try for the first time. She had a full belly and was perfectly content sitting on my lap while I sang to her and pretended to nibble on her fingers. Phil prepared the medicine just as the instructions listed and I distracted her as he gave her the first growth hormone injection. She wiggled around a bit and looked around as if she was trying to figure what was going on... and then it was over. We both let out a huge sigh of relief.
I can't help but feel like this is the day we gave her life. I know that God brought her into this world four months ago with a plan that is too big to understand, but I feel like what we started for her today is giving her a second chance at life. We're giving her the chance to not fall behind and whether or not it makes a big difference or a little difference, at least we are doing everything we can for her.
So now this is our new normal. We'll do this every day for as long as it takes to help her develop and grow physically and cognitively. We're so proud of her progress this far and so thankful we can help her muscles develop more so she can move and play and smile and enjoy life the way she deserves to.
Earlier this week Lillian had a swallow study to test her ability to take her bottle and to check for aspiration. The results didn't come out as we were hoping, but we know that with time her body will strengthen and she will make improvement. The doctor suggested we rub a little food on her lips and let her explore different tastes without actually feeding her the food (and the extra calories). Today she had a little taste of blueberry pomegranate applesauce :). Seeing her explore the taste and texture of this foreign substance on her lips was priceless! As difficult as it is to wrap my mind around WANTING her to eat food, it's so important to instill healthy eating habits in her. We had all intentions of feeding her veggies first, but the applesauce was already in the refrigerator and it's organic with no sugar added... so it felt OK. I might puree some veggies sometime this weekend and let Phil experience the fun of watching her explore this new sensation.
(Lillian tasting blueberry pomegranate apple sauce!)
We're still waiting to actually start feeding her solids until she's 6 months old, so I'll probably just let her experiment with this "lip gloss" method a couple times a week.
Hopefully tomorrow I'll have enough time to finish Lillian's blue and white tutu for the big Super Bowl game Sunday! We'll post pictures Monday morning after the Colts beat the Saints as a celebratory blog post :D. GO COLTS!
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