Monday, September 27, 2010

The Elephant In The Room (aka the diagnosis)

It's been a week since we found out. We got a call last Sunday (the day after her birthday) from the metabolic geneticist. He tried to make some small talk about her birthday but we knew it wasn't a good call. We headed in the next morning for the news.
Amber's last set of blood tests came back positive for one of the Lysosomal Storage Diseases called Mucolipidosis II or I-Cell Disease. They really tried to give us the best case scenario for her but unfortunately this is a progressively destructive disease. Right now Amber is probably the best she will ever be. Everything that  she's been struggling with from the beginning will not go away but actually continue to get worse over time. There is no cure and we can only treat problems as they arise to make her comfortable. The worst part is they told us not to expect her to live to age 8. Right now they are retesting it and doing more tests to see how sever she has it.
This is a rare disease but there are some experimental treatments we could try with her. The major one is bone marrow stem cell transplantation. It's extremely intense and really doesn't do much, it might slow down the progression but in the end everything will be the same. The transplantation will also not stop the progression to her brain. All the possible treatments we could try are intense with a lot of negative side affects. It's a hard decision to make if we want to put her through any of this with no promise that it will do anything. At the same time not doing anything makes me feel like I'm being a bad parent to her. We haven't closed the door to anything but it's definitely something we need to pray, talk about and get more counseling from Dr.s.

How does this affect whats going on with Amber now? Well, it seriously complicates things even more, to put it simply! We have been setting up Amber's chest expansion and heart surgery for sometime this fall. Now we're not sure if this is going to happen or not. Amber's disease is a progressive thing so her chest and heart would not heal right. They would continue to cause her issues and would continue to need more surgery to keep on correcting them. The other major issue with the new diagnosis and surgery is with intubation and anesthesia basically it's not supposed to be done and can cause a lot of serious issues. We aren't even sure at this point if they would still let her have these surgeries. It's a really hard thing to deal with when the last news we heard from the Dr's who want these surgeries done was that if she didn't get them they would be what gets her or at least whats going to really hold her back. The heart one at this point I'm not too worried about because she still isn't showing day to day signs that it's causing her any problems. The chest expansion one is what I'm really struggling with. Even with the inhaler and more oxygen at night Amber is still desating a lot more every night and each night it's a lower number. I have a feeling that this is going to be a no win situation.
This also means we get to see some more new specialists! On Friday we see a neurologist to discuss Amber's skull, upcoming brain MRI and probably the neurological affects of I-Cell. Then we have a magical week off but I'm hoping Amber's glasses come in and to get an appointment with the pulmonary specialist. After that we see the new cardiologist to discuss the heart MRI and if we can do surgery. The next day we'll see the ophthalmologist again to see if her cornea clouding has progressed in the month and a half and how her glasses are working (if they're in by then!). Finally at the end of October we'll have her two for one MRI and see people all over again to talk about the results. November is orthopedics and endocrinology to see if they can help us at all, I'm very skeptical of the two of them. At some point we'll meet with a neurosurgeon to check out the integrity of Amber's spine, especially her neck bones and talk to them about possible things we hope to never actually have to go through. The end of November we'll see the metabolic geneticist again to see how things are progressing and if there is anything we can do.

This has all been really shocking and rough for us. Like usual we're taking it one day at a time but it's still not easy to talk about or tell people about.

Tuesday, September 21, 2010

Happy Birthday Baby!!!

 I can't even believe it! Little Miss Amber turned 1 on Saturday!!
We had a party for Amber a few weeks ago when my dad and brother were home. 

She loved all the balloons!
 And she loved her cupcake! 
 Especially the frosting!
 She kept her party hat on the whole time we did gifts!
 She loves opening presents!
She oo'd and ahh'd over each one!
It was a gorgeous day and we had so much fun! Amber was really happy the whole time! 
We are so blessed to have her and are looking forward to celebrating this next year of her life!

Wednesday, September 15, 2010

Throw Back Thursday

Did you know that on this day last year was Amber's last ultrasound. They did this ultrasound because my bump wasn't measuring the right size. This is when we found out she had stopped growing at some point and was developmentally a 34 week old baby instead of a 37 weeker. We had a faint idea (maybe a little before then) that something wasn't right with Amber. She never was a big kicker. By the way these pictures are from Amber's 20 week ultrasound when they made sure her anatomy was all right. During that ultrasound Amber never once opened her left hand, the one she never opened until she got splints at five months.

Her profile at 20 weeks and at birth. Pretty cool!

I'm at terms with everything that's going on with Amber. I'm sad with the obvious; her daily struggles and the uncertainty of her future but I'm not dwelling on these things. I'm not happy that no one ever mentioned the possibility of Amber having any issues. Even when they told me she wasn't growing properly they never hinted that it could be an actual problem. Based on the pediatricians reactions I find it hard to believe the tech did not see anything else that was not quite right about her at her last ultrasound, which was only two days before she was born. This only upsets me because I would have liked to have been able to prepare and maybe Amber would have had help/treatment sooner or we would be closer to finding things out.

Enough on that! I didn't mean to sound like a Debbie Downer! 
I am thanking God every day for her and thanking Him for everyday He gives us with her.
She really is a miracle; how far she's come and how well she's doing. I can't even begin to tell you how amazed every Dr is with her. Not only because she is so unique but the fact that she should have had a much harder year. 
At 6 weeks they found out she had extremely brittle bones. Shockingly she has never had one single broken bone. It is also very hard to get vitamin D levels up and hers shot up only a month after she started treatment for it. 
 Amber may not be as far along muscle tone wise as we were hoping she would be at this point. She has made leaps and bound though since her early days. Her head control is much better and she is really trying hard to lift her head when she is on her tummy. Even though she can't touch her toes she can really lift her legs now. The range of motion in her arms is so much better, we're almost there! Gone are my worries of whether or not she would ever be able to brush her hair! We are really starting to feel muscle working hard in her trunk these days and hoping that the chest expansion surgery will give her the boost she needs to start sitting on her own.
 It really is amazing how much she has grown and changed over the year.
Amber hands have responded so well to splints. She can now open both hands completely and has only a slight bend to her middle and ring finger on her left hand. She can hold toys and grab things like a champ all without the tendon release surgery they thought she was going to need.
Generally children with her shaped chest constantly have sever upper respiratory infections, spend months in hospitals and usually end up having a trach. Amber's first upper respiratory infection happened when she was 8 months old and now only requires very little oxygen assistance. 
Her eye sight is poor, her speech is delayed. She's still kind of skinny but gaining good weight. 
Her sleep skills are horrible they drive me insane. I think I was going somewhere with this but my brain crashed. Anyways I wouldn't change anything about her, she is so much fun and the greatest joy in my life!

I would like to thank all of you for all of your prayers and support for Amber this past year. A lot of you have been praying for her from the very, very, very beginning and we greatly appreciate it. There is no doubt in my mind she is doing so well today because of all of your prayers. 

Edit: This was supposed to be posted before midnight but it's been a rough night. Amber's unlucky day is September 15th, that's the day I'm talking about in the first section. 

Tuesday, September 14, 2010

She Keeps Us On Our Toes!

Lately it's been all night running in and out of her room. Not for just the usual sleepless reasons or for pump issue reasons, well for those too. The main reason lately has been alarms going off for low oxygen saturation. This really, really bugs me because she's been on half a liter of oxygen at night since May with no problems! We even got to the point where we thought she would be off the oxygen soon or, at least at a lower flow. It feels like we've taken three steps back.

To give you some history Amber's monitor will alarm if the her level is below 92. They would like her to stay at 96 and above. If her levels do drop at all to cause the alarm to go off it's called desating. When she was sick back in May her level was in the 80's which is very bad news.

Our problems started a few nights ago. The alarm went off I went in and Amber had taken her nose cannula out and her level was 70! It has never, ever been that bad! I put her cannula back in and (thankfully) she went back up to her normal level at a pretty good rate.
The next night she desated a few times for barely a minute, most times I didn't get in her room fast enough to see the number. Over the next few days it happened more and more during the night. What really bothered me about it was each time her cannula was in her nose. I even watched her to make sure she wasn't pulling it out and putting it back in, something she's been known to do.

So, I called her pulmonary specialist. We're concerned but not overly concerned because she doesn't seem to be in distress when it happens, it doesn't happen for long and her heart rate isn't elevated. He told us to increase her oxygen flow at night to 1 liter, which is really sad because we were hoping to decrease it not increase it. He also started her on an inhaler every 4 hours that she's awake. He'll be seeing her sometime soon and was not happy we didn't have a surgery date yet.  Oh and he's having us run pedialite through her g-tube at night because she's still throwing up a lot!

She sure does like to keep us on our toes!!
By the way it's hoodie season!
 I love this one! She wore it a ton last year but I can't seem to find a picture.  

Tomorrow won't be a wordless Wednesday but a throwback Wednesday, don't worry there will still be a lot of pictures!

Monday, September 13, 2010

A Grand Day Out!

I'm finally catching up on some fun posts of things that happened while my dad was visiting!

I just love those bright eyes!
After one of our appointments a few weeks ago we headed over to the Boston Public Gardens. 
It was a beautiful day! 
Amber had so much fun looking at all the trees and people.
  We showed her the "Make Way For Ducklings" statues. 
She wasn't totally thrilled at first.`
But then she warmed up to them!
Our little family (minus two) and the duck family!

Then we walked over to the pond for a Swan Boat ride!
 Grampy telling Amber all about the swan boats.
I think she misses him.
 She had so much fun!
I don't really like this picture but if you look in the background it's a nice shot of what the boats look like.

It was such a great day! 
It was the perfect day for Amber's first visit to the gardens and first ride on a Swan Boat! Swan Boat rides with my dad is one of my favorite childhood memories so it was especially special to have my dad with us. I'm looking forward to doing this again this spring!

If you're not acquainted with Boston here is some information on "Make Way For Ducklings" and here is the official website and some great history on the Swan Boat rides.

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!

Thursday, September 2, 2010

Speaking nutrition, G-tube 101

We’ll start with nutrition. Nutritionists have their own language; a mix of medspeak, mathspeak and if you’re lucky momspeak too.  They give us goals for daily calorie and liquid intake and then we hash out the reality of what she will really tolerate.  It’s a lot of give and take until we’re all happy with an outcome.

Two weeks ago we changed her feeding routine. We were doing 16 hours continuous through the pump at a rate of 24 ml/hr (an ounce is 30 mls) with as many 2 or 3 ounces bottles as we could during the time off of the pump (I think the goal was 8 ounces daily).  Now we’re supposed to be doing 4 oz bottles every 3 hours and bolus feeding her whatever she doesn’t take by mouth. Bolus means the rate is the ounces she needs multiplied by an hour so if she needs just an ounce the rate is 30ml/hr. Our goal was to get her to take the bolus feeds in half hour time. Needless to say this didn’t work at all. She got way too full and starting having a difficult time breathing and a higher heart rate. Nothing too serious but still not cool.

Last week our schedule was: 9am 4 ounce bottle, 12 pm 2 ounce bottle, 1pm 4 ounces bolus feed over two hours, 6 pm 2 ounce bottle, 8pm 8 ounces continuous at 30ml/hr. This worked pretty well for a few days but then she started to have really bad reflux from it. We’re still trying to recover from the reflux and get her to tolerate a bolus feeding during the day.
Needless to say I’ve unofficially given up on bolus feedings. It’s unofficial because I don’t have the nutritionist blessing but so far (it’s been a week) she’s still gaining weight so I’m not worried.  Now we’re doing the 8 ounce night bit and trying to get her to take around 10 ounces during the day by mouth. She’ll tolerate the bottle feedings because she can control how fast she fills up and can stop when she feels too full, an option she doesn’t have with pump feeding.

She’s still battling minor infections and granulation tissue around her g-tube site. We just use an ever growing concoction of topical antibiotics, antifungal and other things to keep it somewhat in check. Her issue is the usual all because of her odd body placements (sorry that’s the best I can explain it in a sentence). In other words her chest shape makes her lung expand where her stomach should be. When they placed her g-tube they moved her stomach over to the correct spot. Now her lungs hit her stomach and “rock” the g-tube from the inside in turn irritating the site (also the reason she has breathing issues when she gets too full). It’s a pain because there is nothing we can do about it. She can get “rocking” irritation from the outside too (just from movement) so we have it all secured to help prevent some irritation. The bad news of this is she’s allergic to tape so she constantly has hives on her stomach.  To combat the hives we us hydrocortisone cream, but prolonged use burns the skin. The whole situation rivals the lady who swallowed the fly! We’re just praying she does some more length growth so she gets some space between the lung and stomach.

Yikes, I didn’t intend for this to be a long post! I am writing these posts on lack of sleep with a very full brain so please feel free to ask me questions if something doesn’t make sense!

I'll try and give you a picture reward for reading all these long updates! :)

Wednesday, September 1, 2010

When It Rains

It Pours!! I'm not talking about the weather. I'm talking about the amount of Dr appointments Amber has had lately. It's been crazy busy here. We have seen or will be seeing every specialist that we have and some new ones. We also have some new tests coming up as well. Unfortunately this means I have a ton of new information that will turn your brain to mush just like mine :)

So my question is did you like the way I did it last time? A separate post for each appointment. Or do you want it all in one lump?

I will warn you it looks like this fall is going to be a busy one. Possibly busier than last years if you can believe that! Unfortunately this fall is making me feel the same way the last one did too.

She has never slept on her tummy ever!