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.
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.