Friday, December 4, 2009

What a Week! Everyone needs a Med student :)

What a week it's been! We started a little rough but it seems like we're back to better than normal! Its been quite some time since I've seen Amber smile but she gave me a few today and a pretty good attempt at a laugh! She also slept completely through the night last night!! She went from 9 ish to 7! It was probably due to a stressful day but fingers crossed it happens again tonight... she just fell asleep :)
To start Tuesday we had Amber's 2 month appointment. She is now 6lbs 11oz (13oz on Thursday) and 21 inches! That puts her in the 10th percentile for height and the 3rd percentile for weight. The good news is she went from the 3rd to the 10th percentile for head size! She has a little impetigo around her mouth but thanks to some antibiotics its almost cleared up.

At our appointment we met a med student, as part of her training she needed to follow a family who has a child with a on going condition. So she got to come with us to all of our appointments on Thursday. It was nice she asked a lot of questions we wouldn't have known to ask and they told her "Dr things" they wouldn't normally say around us.

We had our joint appointment with our geneticist and orthopedist. It went ok we really didn't find out anything new except that they both really think its Beals syndrome (which they had mentioned from the beginning) Beals is very rare but our orthopedists has had one other patient with it who turned out fine (yay!) They told us was her bones are very very brittle (more brittle than someone with brittle bones disease) a startle could break her thigh bone :( they were very surprised she hasn't had a break yet. By looking at the x-rays she had they could tell the Vitamin D has been working, the bad news is it's making the top of her leg bones ossify (this is bad because ossifying doesn't happen until the bones are done or almost done growing).
The other bad news is she started with very low levels of vitamin D and now she has very high levels of it. So her endocrinologist stopped her vitamin D and calcium treatment. She'll have her levels tested again in January and then in March after that we'll go from there. Its hard news to hear because we came from one Dr's appointment where they said the treatment was working but we still had a long way to go to another Dr who says no she can't have the treatment anymore but hadn't even looked at her x-rays yet. The good news is the orthopedists thinks that since we started Early Intervention and the stretches so soon the joint and muscle problems she has should be fixed without surgery or splinting! The other good news is the ultrasound on her soft spot came out perfectly normal! So I'm not sure but I think that means we can cancel our Jan. neurology appointment!

We won't see the geneticist or orthopedist until February and we'll continue to see them together. Our geneticist is conferencing with other geneticists this weekend about Amber so hopefully at our next appointment we'll get some better answers, I don't think we'll get any diagnosis until Easter at the soonest.

I'm so thankful that we have the holiday season off from Dr appointments so we can focus on spending time with our family and enjoying the holidays! You can expect some cooking and holiday fun blogging coming soon! Lol I was supposed to start some cookie making tonight but sadly that hasn't happened....I'm not even sure this post makes sense! Yikes I really need to upload some new pictures of the peanut too!


  1. WOW - your own personal med student?! How cool is that?! God is good & He can be seen so clearly in the details of our lives. Praying for wisdom for all involved in Amber's care.

  2. It does make sense. Its weird how you can feel like things are so crazy that you aren't making any sense. Looking forward to pictures :)