This Is Where I Woo You With Pictures Cause I Don't Have A Lot To Say....

First of all sorry for the general lack of posting but...

 the peanut is sick again.

 It seems like just a cold but the congestion is really getting to her.

 She's needed to be held most nights just so she can breath right. 

So you can imagine how tired I am!

She is quite the amazing child...

 Even though she's been so sick she's taught herself how to sit on a lap with no help!

 She's really happy about trust me!

Amber saw her neuromuscular neurologist this past week. They agreed she has been doing really well for being so sick and recommended she get more PT. As much as everyday (yikes) or as little as twice a week. They also want her to get into an aqua therapy program and a hippo therapy (horses) program. 

I've looked into a few places. So, this week and next we'll be talking about it more with her pedi and EI person and hopefully making some decisions about it. I'm also praying since she grew that half inch we can get  her walker!! 

Amber's new trick is, if you hold her while you're eating she steals your food.

 This is new favorite thing to steal.

 Yup that's mushy half of Peep.

She doesn't really eat it eat it but more sucks on it till it's really gross. 

 We've also been doing a lot of spring cleaning around here!

 We rearranged the living room and all the baby stuff has ended up here : )

Amber's toys are now in the bottom two shelves and a basket next to the book shelf. Her books are now on the shelf she's laying on in the picture. I also did some major cleaning in her bedroom! It was really sad going through all of her clothing. Her preemie clothes used to be so big to me and now they're unbelievable tiny, especially the socks!! I don't have any pics of her room I need to make her some curtains and then I'll finally have some finished nursery pictures to show you all! (It's only taken me a year and a half) 

This is something else that's on my "To Do" list;

 take some nice pictures of Amber in all of her beautiful dresses! Oh and get her another hair cut!

I think that's all!

This is how she keeps tabs on all of us

Busy Busy Busy!!

We've been so busy this week and things aren't going to slow down until sometime after the new year!
We've been madly cleaning and rearranging to accommodated family coming home and holiday decorations.

Friday was a very busy day. Amber had an appointment in Boston. We headed in early to meet with a few people and do blood work before hand. It was a good thing we were so early because Amber threw up at some point on the ride in and it took me quite some time to get it all cleaned up!
Amber's full DNA sequencing finally came in! Which will be an entire post by itself but we were able to meet with the nurse practitioner to get the write up of it and talk about it a little bit. Now that we have all of Amber's information the hubby and I were able to have our blood taken that day to see if we are both carriers or not.
Children's at Christmas is absolutely beautiful! They have a giant tree, huge wooden train set in the lobby and everywhere is decorated beautifully. They also have a lot of gift donations this time of year. It was so cool to see carts overloaded with presents headed up stairs to the inpatients. Due to Amber's condition she was on the list to receive a gift.  Whoever had her name was more than generous and we are very thankful!
Her appointment that day was with a resident and senior neuromuscular neurologist. I was extremely pleased they were very thorough in the appointment and very helpful after words. Since we know what Amber has we already have an idea of what to expect from her in terms of what she is going to be able to do physically. Which is why I was so happy with them, they easily could have had no interest in us know that we already knew everything. They are going to work on getting Amber into aqua therapy, since regular stretching can be so painful for I-cell babies. They also want her to get communication therapy and a full hearing test. I'm also happy to say that they are very excited to join her team of Dr.s!

Friday night we took Amber to the Nutcracker that was being put on by the group I used to dance with. Amber loved it, she was also enthralled with one of the camera men! At intermission we took her back stage and I don't know who was more excited to see each other, her or the dancers. The weirdest part was seeing girls that I taught as 3 year olds all grown up. Watching it really made me miss dancing and I still hope that one day Amber will be able to.

Saturday Luke was back at the eye Dr. His eye is healing up nicely and he's on new drops now. Amber also had her first salon haircut! She was so well behaved and now looks so adorable! I promise I'll get pictures up once things settle down. We were able to visit with my grandparents again. I'm happy to say they were in very high spirits and it sounds like my grandma should be home early this week!

Today (Sunday) we enjoyed a lovely Christmas Cantata. Amber's love of music never ceases to amaze me.  We finally got our Christmas tree today!! Amber loves it she was so excited to see it go up this afternoon.

And now I'm off to do some baking and start decorating this tree! 

This is from last week at the nursing home Amber loved these dolls. And yes this is where we had our family Christmas card picture taken, talk about some serious multitasking! 

A Rather Poopy Day ~ The Epic Update You've All Been Waiting For

Well I really thought the other way of updating was going to work. We've had so many appointments the information is starting to snowball so I'm going to give it to you all at once. 

A little more on feeding, this picture really fits it! Amber is not tolerating any of her feedings. Meaning she is throwing up a lot on oral and tube feedings. This week she lost a pound so in a way she's lost two because she had been gaining a pound a week. (she loves "driving" the tractor!)

Last week we had an eye appointment. It was supposed to be a quick follow up to the one she had in February. At the last appointment they said she was really farsighted, but most babies are. We all thought since she did so much growing everything would be all set at and normal at the follow up. Not the case, she's now extremely farsighted and will be getting glasses. Very cute clear/purple ones! They also noticed that the whites of her eyes are now cloudy. I can't quite remember what it's called Cornea something with a d, she has diffusion in the middle layer of her cornea called the stroma, don't worry I don't even know what it means except that is what's causing the clouding. Depending on how bad it progresses we're looking at loss of sight over time and extreme sensitivity to the slightest bit of light. This new finding fits with exactly with the new information below.

Another geneticist! Yup Cedar-Sinai told us they don't think it's Jeune syndrome anymore but most likely a metabolic disorder and some other type of genetic disorder or syndrome. So now we're seeing a metabolic geneticist on top of our other geneticists. We meet with them yesterday and absolutely love them! They are pretty positive Amber has a metabolic disorder. What they're looking into has a very broad spectrum of severity but no matter what level of it she has it is progressively destructive. In our cells we have things called lysosomes that act like the liver for our cells breaking things down and using them ect. In Amber her lysosomes don't work right so things get stored all over her body and cause build up of tissues or bone deformities. This explains some of her unusual anatomy but not all of it so thats why they're thinking its more than just a metabolic issue. Needless to say Amber had a lot of blood work done yesterday. As much as I would like to have some sort of diagnosis for her this really wasn't the type we were expecting. If it is this it will mean that things will always be hard for Amber and unfortunately things will only get worse not better. What we are hoping is that the test will come back negative or at least say that she has a treatable type. I really don't like wiki but here is a good description of pretty much everything I'm trying to tell you. This one is more the family they're looking into. 

Since I'm on a roll I'll give you more not wonderful news. Amber finally had another echo done and it showed that her mitral leak is still sever and the left side of her heart is still enlarged. This means that she will be getting a heart MRI sometime soon. Depending on what the MRI shows, in terms of how much is actually leaking, Amber will have her mitral valve repaired or worst case scenario replaced. By the way we are also finally switching to a cardiologist in Boston.
I'm not sure if you all remember this post about our visit with the new orthopedic surgeon. Well after our last appointment with pulmonary they've decided to push having her chest repaired sooner than later. She will be having a pulmonary infant function test soon to determine how well she actually breaths and then they will set up a surgery date from there.
It looks like both the chest and heart surgery will be done this fall probably at the same time. It's not great to think about but since Amber did so well with her last set of surgeries they have high hopes that she will do well with these.
Amber will also be getting a brain MRI at the same time as her heart one to check out some weird lumps and bumps on her head. She will probably also end up getting a cat scan on her head as well but we're not sure if that will happen before or after her neurology appointment. At this point due to the lumps and bumps everyone is worried that sutures in her skull are starting to fuse, the fact that other parts of her are ossifying doesn't make anyone feel any better about it. The scary part is if her head is fusing that will stunt the growth of her brain, apparently this is not very uncommon with the disorder.

Lately it seems like every appointment we go to we get worse and worse news. It all really sucks but we're continuing to pray for the peace that God had given us since the first news that something might be wrong with Amber. We take one day at a time.

I hope you enjoyed the pictures! They're teasers to some much more positive posts I'll be getting out soon!

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 :)

Good 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:
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!