Saturday, March 17, 2007

Update



It's Friday, after 4pm, and I don't feel like working anymore. What a perfect opportunity to update you all on Miss Ava.

March 14 was a great day. I was lucky enough to take my girl to the geneticist. She sees Dr. Netzloff at Michigan State University's Endocrinology/Genetics Center. Our visit was great! Ava was in a happy mood, she looked adorable, and the weather was warm. Dr. Netzloff is a very dapper, white-bearded gentleman. Ava, of course, thought he was the cat's meow and chatted him up like he was her best friend EVER. He described her as having "a loquacious personality if I have ever seen one!" And he would be right. The kid never stops babbling! We discussed some of Ava's sensory issues, especially scratching, which she does every time air hits her bare skin. We talked about esotropia, clinodactyly, pectus excavatum, hallux valgus, "cocktail party personalities", and various other peculiarities she shares with many people with WS. It felt so great to speak with someone who actually "gets" it. And the best part is....DRs MORRIS AND MERVIS HAVE INVITED AVA TO JOIN THEIR STUDY!!!
We didn't have to seek them out; they came to us! Apparently MSU's genetics department have shared some details about Ava's family history and it piqued the good doctors' interest. They are working on proving that families whose genetic blueprint includes an inversion on the tail end of chromosome blah, blah, blah have a greater chance of producing a child with WS. Ava was chosen specifically because of her paternal aunt who had WS. Strangely enough, other family members have certain idiosyncrasies that correlate with WS symptoms. Laura's dad has pectus excavatum; Laura could only learn math by singing the problems; Laura and her dad are quite musical-you should here the beautiful voice on that girl! *proud mother-in-law grin* So, I am excited and pleased that my precious Ava can maybe help others in some way.

Laura is trying to provide opportunities for Ava to gain some social skills. Every Monday they pack up their Williams Syndrome Association backpack and head to the local library for the "Shake Your Tail Feathers Lap Sit Story Hour". They listen to stories, do crafts, sing songs, dance, and generally have a rip-roaring good time. Except Ava hates the kids. But she LOVES the mommies. After all, the world DOES revolve around Ava and wouldn't every mommy want to give Ava hugs and kisses? Oy, I see this becoming a problem someday!

We went to the pediatrician this week for her 15 month well-child visit and immunizations. Miss Ava weighs a whopping 17 lbs 11 oz, and is 29 inches long. She has low muscle tone in her arms, but her torso and legs are rock-hard. Believe me, she didn't get that from my side of the family!
The pediatrician, Dr. Jonathan Gold, feels that developmentally Ava is somewhere between six and nine months old. I agree, for the most part. However, she is learning something new every day. Who knows? Maybe soon she will start to surprise us all.

The pictures I posted are a couple of months old, but they are so Ava! The one with the pursed lips is her "Am I scaring you?" look. Check out the earrings...Laura won't allow piercings, but she grudgingly gives in to clip-ons! I am going to have to scout out old ladies' garage sales to find some bling for the baby!

Last but not least: Ava's favorite game is "SCARY MONSTER". It goes like this:

Ava: AAAAARRRRRRGGGGGGGHHHH!

Laura: Oooooh, scawy monster!

Ava: *Grin*

PS: I don't have the energy to reflect on WS anniversaries or the listserv. But the posts from those of you who have are so beautiful and heartfelt. I love you guys. Every day you make me laugh, cry, and think. Thank you:)
PPS: Ava's eye surgery is scheduled for April 6, Good Friday. The plan is to straighten just her left eye with the expectation that her right eye will straighten on its own. Wish us luck!

Monday, March 12, 2007

Granny Has Writer's Block

I haven't posted lately because I DON'T KNOW WHAT TO SAY. Every time I sit at the computer my mind goes blank. Tonight I decided the content of the post doesn't matter. It just seemed important to touch base and say "Hi".

Since I posted last I have a new office, a new nephew (actually a first cousin, once removed, but I am still Aunt Kimmy!), an extremely bad lipid profile, and a slightly deformed spine which causes me nasty aches and pains. My son's track team has started practicing, he's entered puberty-GOD HELP ME-and our phone never stops ringing. My mother is ornery, the cat has fleas, and my tires need rotating. It's a good thing they don't tell you in high school what "real life" is all about!

Ava Mae is doing really well. She is still a peanut, weighing in at a hefty 17 lbs. This week I will be taking her to her appointment with the geneticist. I am looking forward to the visit. Hopefully I will be able to quiet my mind long enough to compile a list of questions for him. I am seriously considering breaking into Dominick's Ritalin stash just to see if it will help me focus.

I have SO enjoyed reading everyone's posts. Sometimes it's the only "Me" time I get. If I get inspired sometime soon I will try to churn out a post with some substance. Wish me luck:-)