Friday, March 5, 2010

Did She Just Do That?

This has been quite an eventful week and I'll admit I'm exhausted!
The most exciting news is that Amber is now starting to wave, clap and laugh! She does it in her own way so its easy to miss but she's really doing them!! Of course like any other baby she won't always do it when you want her too so I have yet to capture it on video to share with you all!!
Bear with me here I have a ton of information and events to tell you about. I should start doing updates more than just once a week when I have crazy weeks like this!
Monday ~ My mom left to go visit my dad. We headed to an appointment for me. Amber decided to show off and waved at my Dr! What a nice relaxing day :)
Tuesday ~ We headed to Amber's genetic appointment. It went really well! We had some very nice discussions with the geneticist and found out some interesting things. The results of her general metabolic and general genetic test came back. They are both normal! Its good but it makes things more complicated for her Dr's. The geneticist is now toying with the idea that it might be Juene Syndrome It seems like it would be a good explanation of Amber's chest shape, slight breathing problems and issues gaining weight. However its not a perfect fit. She has very long fingers, contracted fingers, osteopenia and pretty normal length arms and legs. Anyways our geneticist is sending us to her friend as Mass General for a second opinion.
Wednesday ~ The early intervention lady and developmental nurse came to visit Amber. It was a great session!! Amber was in the mood for showing off; talking, waving, clapping, imitating the works! By the way at her age she shouldn't really be imitating so they were very impressed! When they visit they do a mini neuro exam and she scored above average! For a fun experiment they want us to teach her some simple signs. As of right now she just thinks its really funny but won't do them. Her daddy did teach her the fist bump (in one day!) so maybe the signing will be his job.
Thursday ~ We had our first pulmonary appointment. This wasn't supposed to be until later in the month. We were really happy that they were able to see us sooner. Recently she has been choking a lot during and not during feeding, she also has episodes at night where she does her in pain cry randomly the developmental nurse and us think its possibly reflux, her soft pallet causing an obstruction or apnea. The pulmonologist right now wants to figure out why her chest is that shape. He said one reason could be Juene syndrome or something like that or because of her soft bone issue the diaphragm muscle could be pulling her chest walls in. It sounds bad but her pulse/oxygen levels at rest are ok and her pulse/oxygen levels during feeding go down lower than they should but its not low enough to cause any intervention or major concern at this point. He did order another full body x-ray and upright chest x-ray. I guess vitamin d makes the bones look different so they could have missed something last time and it will give them a better idea if her chest shape has actually become worse. Our geneticist check in on us while we were waiting and it sounds like she might go ahead and order a sleep and swallow study. The pulmonologist seems great but I'm not thrilled about his wait and see attitude. So after that loong afternoon at the dr's we came home to a dead water pump :( ugh so we packed up and slept at my grandparents for the night.
Friday ~ We were supposed to go to the endocrinologist but had to cancel to deal with the pump. Unfortunately we won't see him again until June, we're praying they can give us a cancellation like our pulmonary appointment. I made amber's mass gen. appointment! It wasn't supposed to be until July 2nd (!) but (thanks to her being famous and loved by all the geneticists in our region) we were moved up to March 19th!!!!!! Oh and my mom found a happy apple in with some old toys!!
Well that's our crazy week! I think this sums up how we all feel

yup she feel asleep while I was feeding her
(we finally got her a real highchair! it seems to work really well)
I think this runs in the family

He's such a cutie :)
Have a good weekend its supposed to be nice and warm here yaay!!!


  1. Ahh, that's how I feel too!! I'm so amazed how much she changes in such a short time. I love the sleeping high chair pictures, how adorable. God is faithful - who would imagine a July 2nd appointment would be moved to 14 days from now!!! We'll pray you through tracking down all her records that will be needed for that appointment.

  2. I miss babies falling asleep while trying to feed them. Keep up the posts this is the best way for me to keep up on the baby's health and your opportunities

  3. Thanks for the post Skye...I have read it about a dozen times is really helpful for me to read what goes on in your lives from week to week. Thank you for your thoughtfulness! Praying that God will direct you and Luke day by day..and I keep trusting that He knows exactly what is best for Amber!
    The pics crack me up!! Luke did that quite often..and he would occasionally force his eyes open and say a little something and laugh and then go back to sleep! The pic of Amber is just tooo cute!
    love you all...!