Thursday, September 9, 2010

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!


  1. Schuyler - You have been so brave through this whole thing and I really admire that. Good luck with your beautiful little girl. I hope good news comes your way soon :)

    - Angela Shannon

  2. Dear Skye, What a loving mama you are. We are aching along with you. Sending our love and praying often for you, Luke and your precious Amber. Cindy Heacock

  3. Thank you Skye, for posting when I know your brain must be on are so good at grasping and reiterating what the Drs have to are an awesome mom and wife!!
    Amber...I love you like the day is long! I love everything about you from your head down to your precious little tootsies. I wish I were there, I would eat you up with Gramma kisses! Have I ever told you how hard it is to be away from you? But just like God has a perfect plan for your life, He has one for mine too and I will just trust Him. Watch for a special package in the mail today!
    Love you Luke and are always in my thoughts and prayers!

  4. okay, this is frustrating, I posted a comment last night to have it wiped out. Ummmm....

    Any way - I want you to remember that God is there walking step by step (or carring you all step by step)with you. You know that footprint poem -well it is true. Sometimes it seems like we are walking on our own- when actually he is carring you.

    I love her pig tails and barretts so cuteeeeeeee!!!!!!

    I think we need to go to the Lindt Chocolate factory and stock up. Have you heard the song (chocolate, chocolate, chocolate) well if not- I will sing it for you this afternoon -for a REAL treat. rotflol......

    Love and hugs see ya soon. oxoxox

  5. Hi MommaSkye...knowing what you are praying for makes it that much easier to know how to pray for you! Praying for that peace that only God can impart here ... & while I'm at it, I'm throwing in a special request too --- that He will fill you & Luke with an extra generous measure of all of His attributes to help you on each & every step of the journey ahead.

  6. Amber has such a such a sweet spirit and such a loving and supportive family. 'Quality of life' sounds so trite, but a child being loved and cared for and a parent showing unconditional love shines for all the world to see. We are praying for you all, for an extra measure of God's amazing GRACE, faith, hope and love to carry you as you walk this journey. Amber is truly blessed to have such a wonderful family and you are truly blessed to have a wonderful supportive family and to know the God who cares. We love you.

  7. Hi Schuyler,
    May our Prince of Peace, Who knows every in and out of your precious baby girl, be nearer to you than the noses on your faces. I know that He IS that close.... and I pray that you experience His presence in undoubted ways.... When you know for sure that HE is with you... you can walk through anything!!!
    I am so impressed with how you ingest and assimilate soooo much information from sooo many doctors...specialists..etc... and that you're then able to articulate it with such clarity! You're amazing! Amber is so blessed to have a Momma that is able to stay on top of things the way you can!! Know that you, Luke and your precious girl are in my prayers.
    I LOVE LOVE LOVE the pictures that you post. Amber's personality shines from the inside out... and looking at her pictures just warms my heart and makes me LOL at her abundant adorable-ness! (yea... I just made that word up)
    Thanks for allowing me to sort of invade in on your blog...and into your lives... while I don't really know you... you are very special to me.
    My continued prayers are with you!
    Paula Keller

  8. Poor little peanut! But it's always darkest before the dawn. I'm hoping things will start looking up for you all! If you ever need anyone to talk to, let me know!