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!

5 comments:

Kerry said...

That is so GREAT Ava will be in on the study.. maybe she will be on the sinside scoop on new info going out. How exciting!!

It sounds like she is doing so well, and her smile is infectious! She is so beautiful I cna understand your joy just being around her :) What a great Grandma you are!

Nancy said...

Thank you for the update! I'm glad your appointment went well and that you are so involved in Ava's life -- you are a VERY important part. I know my parents are in Erik's, and he thrives with their loving care.

Keep us updated on the study and everything else.

Anonymous said...

Kim,
Ava and I love you so much! This blog means alot to me, so thank you for loving us so and being part of our life :)

Love
Laura and your beautiful grandbaby Ava Mae

Every minute counts.... said...

Thank you for the update...here's to wishing you good luck on Fri....

Noel

Teresa & Shawn said...

That's neat about the study. Genetics is so fascinating.

Clare LOVES singing into the toy microphone as well. I heard her singing one day and went in there and she was doing it in the mike. Ava is so cute - I love looking at her photos!