Thursday, June 30, 2011

Are you a good boy?

Well, all the results from the Noonan's genetic tests came back. They were all negative. I was depressed and pretty discouraged. Our genetic counselor said at this point we're in the land of diminishing returns as far as a genetic answer goes, and she kept calling William's case a complex case. We met with our endocrinologist though and she said about 50% of her Noonan's cases don't have the genetic back up. She kept using this term for a diagnosis that doesn't have genetic back up. When I was googling the next day trying to figure out what that term was, I learned quit a bit. The cases that do have genetic back up are quite a bit more severe and generally come with heart defects and mental retardation. Once I learned all that I was so grateful we weren't showing up on any genes. I've come to peace with the fact that we really just need to wait for the science to catch up. 15 years ago there wasn't any sort of genetic testing on these kinds of things. And just since about March, they found a new gene that Noonan's was carried on. I think in about 4 or 5 years there will be better science. And when we move to VA and start going to Johns Hopkins hospital we might stumble upon a geneticist that has seen a case like William's before. I've laughed all along that there may be a Torres syndrome at the end of this. However, it's looking more and more likely at this point. But William, is doing really well. He's grown another inch in a month. He's putting on weight and he's hitting his milestones left and right. I've always been excited for him to start really talking. However, now that he is, I just wish he'd be quiet for ten minutes. I'm really proud of everything he's doing. Even if he is drawing on the walls, climbing things that terrify me and driving his big sister nuts.

Finally, Lucy is potty trained. She caught on really fast. We're still working on pooping in the potty, but we've had 4 or 5 successes. We've had several days where we've been out of the house all day and not only has she stayed dry, she's used the big potties.

The other night our cats were sick. We had our babysitter come over to watch the kids so we could take the cats to the vet. We have an amazing babysitter. Not only did she make them dinner, paint their nails, play games with them, she also cleaned up the living room. She is the sister in law of the kids' God Mother. She has been such a blessing to have come into our lives. When we came home she hung out for a little while. She brought brownie mix to make with the kids and we didn't have any good eggs. Lee went to the store for diapers and he picked up eggs, so she stayed to make brownies. When Lucy kept getting walked on by Will, Lucy went not to her mummy for kisses better, but to Christie. :)

That night, when Will was sitting in his chair I asked him if he was a good boy. He answer "No! I William!" Well okay then.

I feel like we're starting to get in a groove as a family, so I'm hoping that my blog posts will be far more frequent now.