Tuesday, November 10, 2009

You've Heard of the Bubble Boy

And here is the Bubble Belle!

Yep - that's Elle Belle underneath all that plastic. It's a rain cover for her stroller but also works as a germ shield! We spent practically all day at the hospital yesterday and with the outbreak of swine flu and seasonal flu - it is better to be safe than sorry. I don't want strangers breathing on her or touching her. I am always so surprised by the number of people that reach their hands in to touch her - even though she is usually holding or chewing on her tiny hands sign that says "please wash your hands before touching mine." It drives me crazy! When I was pregnant - it was perfect strangers coming up to rub my belly and now it's perfect strangers trying to play cute with my child!! I'm perfectly fine with smiles from afar but reach your hand into her stroller and you might come out with a nub!
We had 3 wonderful doctor visits yesterday. The first was with our fabulous audiologist Dr. E - I just love her! If I didn't have 2 more appointments follow our appointment with her (and if she didn't have an extremely busy schedule) I could probably stay and chit chat with her all day. Elle loves her too so that makes these visits something to look forward to. She adjusted the volume in Elle's hearing aids and put in her new ear molds. Elle really didn't seem to mind one bit and as we were leaving and getting on the elevator, she pulled the string on one of her toys that plays music and stared up at it in amazement - the same way she did the first time she heard music with her hearing aids in. There were 2 other people in the elevator and both were smiling and laughing at her wide eyed stare at the toy. I think they were just as excited and happy as she was! Our next appointment was with the Genetics doctor and Lee met us for this one. The last time we saw Dr. L was in the NICU - 6 months ago. I think she was pretty impressed with our crazy kid! Since Elle is now officially a mover and a shaker - she was going a mile a minute on the exam table. Lee was standing at one end of the table, Dr. L was at the side and then walls were on the other side and at the head of the table. Elle was a baby ping pong ball - rolling from Lee to Dr. L to the wall and back to Dr. L and then back to the wall and then to Lee...for an hour! She never stopped! At some point - she discovered the paper on the exam table - grabbed hold - and rolled - ripping the paper. She did that a few times until there really wasn't any paper left. At that point she started grabbing whatever she could to put into her mouth. Here we are, trying to have a serious conversation about Elle's issues and we can't stop laughing because of her antics! I don't think the smile left any of our faces (including the doctor's) during our meeting with her. The doctor didn't give us any news that Lee and I hadn't already read about in CHARGE Syndrome literature. Elle has now been officially diagnosed as having CHARGE syndrome - where as before all her paper work said "possible CHARGE syndrome." There's no "possible" about it now - she's official. This is actually a good thing because now that she has an official diagnosis, it means she can now get support/help from Texas Deaf/Blind outreach and various other entities. One of the things to watch out for in CHARGE kids is that they have a very high pain tolerance. We've already kind of noticed that in Elle. She doesn't cry when Lee or I accidentally bump her head on her car seat handle or when the dogs tails smack her in the face - she actually laughs. I was emailing some of my girl friends later in the day and i said " lee and I are going to have that kid that says "hey guys, watch this!" For some reason, that phrase sounds oddly familiar because I distinctly (or not so distinctly) remember saying it a few times right before sliding down the staircase in the KA house in a trashcan lid (and at our own house in laundry hampers) or using cookie sheets to slide down the massive hill we had in our backyard in one of the houses I lived in in college. White house girls - that little memory is for you! Dr. L also gave Lee and I the talk regarding future children. There is a 2-3% chance our next child with also have CHARGE. Just like the birth rate of kids with this syndrome is 1 in 10,000 - there will always be that risk. Unfortunately, there is no way to determine if our next child with have the syndrome since both Lee and I already tested fine. There may be a possibility of mosaicism in either Lee or myself. Mosaicism is a condition in which cells within the same person have a different genetic makeup. This condition can affect any type of cell, including blood cells, egg and sperm cells, and skin cells. If I do get pregnant again, we will do a lot more testing to determine if the baby with have CHARGE. Although, it's not going to really matter...just like it didn't matter with Elle. We go back to see Dr. L when Elle is about a year old. She wants to see where she is developmentally and track her progress. Our last appointment was an impromptu appointment with our favorite pedi surgery nurse, Kathy. It's time for Elle to get a new button (in her stomach for her feeds) and since we were at the hospital already, Kathy worked us in. Unfortunately, the button that was sent up to her was the wrong kind - so we go back next week to have it replaced.

Waiting for her nurse Kathy - about to use the wall as a starting point for some major rolling across the table

By the time we finally made it home, I was exhausted but Elle was totally refreshed because she slept in the car ride home. Since she had been cooped up for part of the day in her carrier, I put her on her stomach to work on tummy time and she shocked me by putting weight on her arms! It was the first time I have seen her do that! She also used her head, arms, and feet and scooted her way across the blanket I had her on. It was pretty funny to watch - but she was only doing it to get to the remote. I definitely would not call what she did "crawling" but I know that when the time is right - she is going to be one active little girl (she already is!).
Our interview with Channel 2 news is in the morning. I am so nervous about it. I would not be one bit surprised if my Texassippian accent comes out. Living in Mississippi for 5 years, I somehow acquired a very Southern accent that only comes out when I'm really nervous (and maybe after a weekend with my friends from the deep south!)
Only a few more days until the Wee Dream golf tournament! Lee and I are actually going to play in it - it has been 8 month since I last picked up my clubs. I stopped playing when I was 8 months pregnant. Maybe I should get out there and practice a little bit! Thank you so much to everyone that has shown their support for this amazing foundation. I received an email today that put both my dad and myself in tears. The overwhelming support is truly, TRULY amazing. Thank you all so much!!

1 comment:

Andi said...

You sound so positive and brave and I know I try to be that way and it gets easier, eh? I am so impressed and proud of Elle! What a big girl she is! And I really appreciate your sweet words to me on my blog! I love following you guys and it looks like we may be in the same circles for a long time! Best wishes always, Andi