Thursday, January 28, 2010

The Heart of It

***Please Excuse All Incoherent Ramblings ~ my brain is a tad too full**


I just want to point out how cute these two are.
Yesterday was Amber's cardiology appointment and its left my head spinning. I went in fully expecting that this appointment would be like our neurology one; go in find nothing make the Dr's happy that we can rule out something. On the other hand I'm not really surprised that they did find something.

As usual they didn't hear anything alarming and she had a normal EKG. Then she had an hour long ultrasound on her heart; I didn't get to see it but she watched the whole thing, it was really cute! The ultrasound showed that her mitral valve has a mild leak. This could be happening for two reasons.

1) it is common for people with Marfan syndrome to have a distorted mitral valve and leakage. 2) it could be caused by her abnormally shaped chest (which is a symptom of marfans and beals)

The good news is its not that serious so it doesn't need to be treated or fixed at all. They will be checking on it yearly to make sure its not getting any worse. We really don't know how this will affect her in the long run, if it could get worse or how it affects any permanent diagnosis for her. So this is why my head is full, I'm not quite sure how I feel about it yet. On one hand it would be nice to have a definitive diagnosis but on the other hand if her chest is causing growth problems for her heart now it seems like it could only get worse as she gets bigger. I guess we'll cross that bridge if/when we get there.

What I've really learned from everything so far is that its not worth getting worked up about something that you don't know about. We're taking everything a day at a time and focusing on the positive and what she's accomplished so far!
Remember This Guy?

Fisher Price's "Happy Apple" Well the developmental nurse had one and she's letting Amber borrow it. Its so great she loves talking to it, hitting it and hearing the bell! I can't even begin to say how great it is to see her acting like babies her age!
What Else is Going On?
  • Well we had a great meeting with her Early Interventionist and the Developmental Nurse!
  • On the 4th we have another joint appointment with our geneticist and orthopedist
  • I have to make an eye dr. appointment for Amber (and I)
  • After talking to different people we're going to make an appointment at Children's to get a second opinion
In the non Medical world of our lives (yes we do have one!)
  • WE'RE GOING TO PA! we've been trying forever to get some time to get back down to visit the hubby's family so we're going for a few days at the start of next week!
  • yeah that's about it.....
But I would like to remind you all that February 5th is "National Wear Red Day" (goredforwomen.org) Raising awareness for heart disease is very important because its the number 1 threat to women. I would really like to encourage everyone who reads this blog to wear red that day and take some time to look into the affects of heart disease in women and what you can do to prevent it.
* Now I'm off to enjoy this snowy day and maybe do some baking!*

Saturday, January 23, 2010

What a big baby!

Amber is now 7lbs and 13oz!! Its crazy to think that at 4 months she's the size of a newborn! She's is 22 inches now too (I think she's about the same size her daddy was when he was born!)
She is making so much progress physically with Early Intervention and is becoming such a chatterbox too!
At our appointment on Thursday we were told that the geneticist is pretty certain that she has Beals Syndrome. So this Wednesday we are seeing the cardiologist and we're making an appointment to see an eye Dr. This makes a total of 6 Drs we are seeing for her! We'll see how our appointments go the beginning of Feb. but I really think we'll be going to Children's for a second opinion (I just really don't feel like its Beals).
We've started cereal! The only problem we've had is she likes to talk to us while she eats it and then ends up choking. But other than that she seems to like it. I have some videos of her eating it but I can't seem to get them up.
My mom comes home on Tuesday and I can't wait to have her back. We've survived but it gets lonely here without her. Amber's also gone back to sleeping through the night and napping!! I'll try to post some videos and pictures later but its time to feed the little monster again!!

Wednesday, January 13, 2010

Happy New Year?

It's been kind of a bitter sweet start to the year for us. Christmas was wonderful it was so nice to spend time with my family and have my dad and brother home. Here's Amber in her Christmas jammies giving her Christmas doll a hug! I'm not sure if she meant to do this or not. She did it a few times before she started eating the dolls arm :)
videoGood News: Amber is showing a lot of progress. She is using and opening her hands more, I even saw her open her thumb up to grab at a toy!! Her head control is way better. She is well on her way to supporting it herself! Her neurology appointment went really well. The Dr said that she had no reason to believe any of Amber's delays were brain related and she thinks the seizure like episodes she was having were due to bad acid reflux (sounds really weird but apparently that can affect the brain stem) She had her blood level re-tested (she's been off her meds for a month now) and the levels are normal! She'll have them tested again in February and we'll have more x-rays then too.
The Not So Great News: At her last appointment she was only 7 pounds :/ its not a great weight gain and I really thought she would be closer to 8 by now. Her 3 month well baby appointment is next week so hopefully she's gained more weight. My hope is that once she starts on solids she'll gain more and gain steadily.

She is becoming such a smiley girl and so talkative too! Here she is checking out her hands.

We spent a lot of last year preparing for this day but its not really something you can prepare for. Second time around and its still just as hard. We'll spend all of this year waiting for him to come home. At the same time we'll be missing my brother who deploys any day now. We did get to spend a lot of time with them before they left and had a lot of fun together.
It does seem like everyone is leaving. My grandparents, aunt and mom are all in Florida. Its very weird and quite here :/ at least I've still got my hubby here!! Well I'm not completely abandoned we still have family and friends helping out but there's nothing like a mother.
On A Lighter Note!! Are you wondering what happened to that to the gingerbread house?
It's hard to see but here's its fate:
video It's being eaten! The fluffy culprit is Jada. She's not the only one Mr. Pickles has been helping eat it too. All the coconut snow is gone! Who would have thought cats would eat something like this!
Hope you all had a wonderful Christmas and a blessed New Year!