Catch 22

Last Tuesday the 26th was the big meeting with some of Amber's specialists. The metabolic geneticists, his nurse practitioner, pulmonary specialist, orthopedic surgeon, cardiologist, palliative care team and the complex coordinated care team were all there.  

Friday we had a meeting to discus the meeting. It was us, the metabolic geneticist, his nurse practitioner and the palliative care team. We didn't discuss anything new and if anything it's only made our decision making harder.  

There's a lot to it so I'll keep you all focused by throwing some pictures in.

Here's a great one I forgot to put in yesterday! She's a low fat cow :)

First of all I'll start with the chest expansion surgery. She can not have it. Which is fine with us because we had already decided against it. It would be too much of a shock to her system and it would be too long/painful of a recovery. 

Second is the heart. This is a tough one. She definitely needs heart surgery. However it would be open heart surgery and they are very concerned that her lungs would not be able to handle the procedure. On top of it I-Cell babies have a lot of issues with intubation and while she did really well last time there is no guarantee that she'll do well again since she has shown some progression in the disease. The risk of death is very high but we know her quality of life will go down greatly without it and her life span will be even shorter. We're still very undecided about it, not great seeing how we need to do it sooner than later. 

I believe that's it for surgeries. 

This photo melts my heart, he's such a great daddy!!

Treatment. 

This is a tough one. I think I've mentioned before that there is no cure for I-Cell and really no treatment either. The Dr's are still counseling us towards a stem cell transplant (either a donor cord blood or bone marrow), but there really isn't much information on it. They've seen the progression of the disease really slow down, especially with the heart. The down side is the areas that are already affected in her will not change, the progression may slow down but they will always be the way they are and will continue to be issues for her.  What this means for Amber is if she gets it she would probably grow a little more this would be great because it would put some space between her lungs and stomach and she would also fit equipment better. The major down side is the transplant wouldn't change whats already bad with her  lungs and heart and they would not be able to handle a bigger body. However if we don't do the heart surgery her body would not be able to handle the intensity of the transplant, even without it it might be too much for her. 

For other treatment; if we don't do the heart surgery it would be more medication as she gets worse. The palliative care teams seems very confidant in what they can do for her because they've worked with another family who has two I-cell kids. 

She's so curious about everything these days!

So, if you're a little lost by now don't worry! I'm not sure how helpful the meeting was. I don't know what I was expecting since I know by now that they'll never give us a straight answer on what we should do for her. We're kind of stuck in a loop now and here's how it goes;

Her heart needs fixing but her lungs can't handle it,

Her lungs need fixing but her heart can't handle it,

The transplant might work but everything needs fixing before for it to work best 

and that starts us back to the beginning!

They have offered to send us to a hospital in Minnesota and PA who have seen more I-Cell patients and have done treatment/surgeries with them to get a second opinion on what would work best with Amber. We aren't sure if we'll do it. It's also a hard decision because it's a lot of traveling during flu/cold season which is not really the greatest time of the year to travel but if we want someone else's opinion especially on  the heart surgery we have to do it pretty much now. 

I was really hoping that after this meeting we would be set in a direction that we want to go in terms of surgical interventions or not but I think we're actually more confused! 

In other new news her geneticist cleaned out her ears and discovered that it was an ear infection that was causing her sickness and not a reaction to the MMR vaccine! So she's on antibiotics and seems to recovering; her fever is gone but she's still acting off. The other crappy news is her liver is even bigger, it's doubled in size in a little under a month. We aren't sure if this is just the progression of I-Cell or if it's a build up of blood because her heart is working so hard....I'm not sure which would suck more. The only good news is she's not showing signs of any serious liver issues, her skin and eyes are still a good color. 

I think that's all...  This was supposed to get out for today (Tuesday) but I think it will be out for Thursday, I'm not very good at multitasking these days! 

Unexpected Everything

So basically everything lately hasn't been going quite like we expected. More so than usual!

First of all Amber was supposed to have her heart, brain MRI's and her heart catheterization last Friday. Well that didn't happen! We got there bright and early Thursday morning (ugh 8am) for our meeting with the palliative care team. That didn't really happen we ended up being really late so we started our day super stressed out. We were able to register early and get her x-rays and paperwork out of the way. Unfortunately whoever was being discharged on the cardiac pre-op floor took forever so we waited a good 9 hours till we were able to go upstairs to her room. I'm not even at the worst yet! The Dr's and whoever was in charge of Amber didn't look over her charts/previous medical history before they brought us in. This super sucked because they finally realized, after looking through her history and talking to specialists that they could not do any of her tests because she would need to be intubated for all of them and would also need an ICU room to recover in and none of the ICU's had any open beds. So they sent us home! We spent 12 hours there for nothing it was so frustrating. It was also good in a way because we were really stressed out and worried about her being intubated. As far as rescheduling the tests go we aren't sure, it's going to talk more talking about amongst her specialist and a few new people.

This Tuesday was supposed to be the big meeting between all of Amber's specialists. Well it still went on only we were no longer able to go. I guess since none of them had meet together before they wanted one meeting together to talk about things without us....without explaining everything to us. It was very disappointing to hear because I have a lot of questions I would like to ask certain specialist while other specialists are there to back me up! Tomorrow morning we'll go see her metabolic geneticist and the palliative care team to hear what they discussed at the meeting and start making some decisions.

If you were wondering about her elusive glasses, they came in on Tuesday but they weren't the right prescription. This means they have to be sent out and remade.....so probably another two months.

The worst unexpected thing this week was Amber being really sick. It started Monday with a fever in the 100's and her throwing up a lot. On Tuesday she looked like death, we had to turn her oxygen up and her fever got all the way up to 102.6 it was awful. We ended up taking her to the Dr's and they told us it was a reaction to her MMR vaccine. I was really confused since she had the shot two weeks ago but that's apparently how that vaccine rolls. She still had a fever yesterday but thankfully today she didn't have a fever but still looked a little under the weather.

Poor thing : ( 

Things have definitely been off, which always makes thing extra stressful but we're looking forward to relaxing this weekend and hope next week is better! I'm predicting super cute pictures to come after Sunday ; )

Insert Witty Title Post Here

I think I should get the worst blogger award! I don't know whats up with me but I just haven't had the motivation to blog in the longest time! I have half put together posts about our trips and interesting things but I just can't get myself to sit down and finish them. 

I will admit I've been a bit distracted trying to quilt Amber a little snuggle blankie for Christmas. To tell you the truth it's not working out to well. Quilting requires basic math skills....skills that I lack so it's a bit frustrating. Making your own pattern is also something I don't recommend if you've never done it before either. I have a bad habit of biting off more than I can chew on every project I take on.  

What else is going on? Well Amber's glasses are still not in. Our giant meeting is still on for the 26th of this month but I still don't have a time of day.

 Thursday morning we'll be having a meeting with the palliative care team that I would rather eat nails than go to. After the meeting we get to register with the hospital and temporarily move into the cardiology floor. Friday (at some point) Amber will be put under and have her heart catheterization and both MRIs. We've been told that it will take at least 6 hours and we might go home on Saturday/Sunday. I can not even express to you how much I'm not looking forward to this. When it comes to surgeries I feel more at peace because I know it's something she really needs and she'll benefit from. This just makes me feel uneasy. I know they need more data to err on the side of safety but I also know the answer isn't going to change. Even if  the tests show her heart isn't as bad as they thought it was right now/the next few months is the best time frame to do surgery. We know she did well in June and they're guessing not much has changed in 4 months but in 6 months to a year things might not go as well. I really just wish it was next Monday...maybe. 

I have been motivated to work out the last two days. I'm not expecting to see any results since my diet consists of large portions of comfort food and desserts/candy :)

Amber has been getting in on the action too. This was her first taste of a Kit Kat.

 She seemed a little wary at first. 

Either that or she was telling us to give her a break!

(sorry I'm a sucker for puns)

 Making sure she didn't gage herself 

 She LOVED it!

She's so smart too she sucks the chocolate off one end and then flips it over and sucks the chocolate off the other end! I think she gets her chocolate eating skills from her mama's side of the family!

Here is the other reason why I should get the horrible blogger award! I've been so caught up in my moodiness about this week and my failed project that I completely forgot to tell you some of the biggest news ever! 

1) The other day Amber moved her head side to side while on her tummy!

2) While on her tummy I lifted her under her chest and she put her arms out in front of her and supported her  

     head (for less than a minute)

3) Today in the car and the other morning she said "MUMMY"!! It's more like Bubby kind of like how she   

    said Ayee before Daddy

4) Sunday morning she rolled over! She was laying on a towel on the table so she had a lip to roll off of. She 

    did not like it at all by the way!

I think that's it, I can't believe I almost forgot to tell you! Now that it's almost Wednesday I think I'll go to bed and forget about proof reading this. And you all have permission to send me hate mail if I forget Wordless Wednesday again :) 

Back To Blogging!

Yikes, it's been longer than I thought since I've been on here!

 Our little family has been traveling all over the place. We headed up to North Conway NH the Thursday after my last post and stayed a couple of days, it was so nice to get away just the three of us! Then we had a lazy week at home before we headed out for a long weekend visiting our PA family. Well the long weekend turned into a whole week for Amber and I, it was so great to say the least! In a perfect world I would have been blogging daily about all our fun! Instead I selfishly chose to savor each day and have tons of fun and not tell you all about it ;) Don't worry I'll sit down and give them all the full post they deserve, mostly because I know Blogger won't be cool with all those cute photos in one post!

Here's a snippet of our trips!

It hasn't been all fun and games though, we've had two appointments this week. I know I usually go in order of the days of the weeks but one needs more explanation than the other so I'm going to be a little crazy and go out of order.
Tuesday she had a follow up with her eye dr. It should have been to see how her new glasses are working but  thanks to our lovely insurance it's going to be another week till they come in. I'm not complaining too badly since I'm pretty sure they're mostly covering them and they haven't given us any crap in a very long time! There isn't much else to say Amber was in a very grumpy mood and cried the entire time. What he did tell was he thinks the cornea clouding is actually better! Yeah it makes no sense, he said it should be either the same or worse but not better. We're trying to not get our hopes up too much since it could have been because she was crying, but still YAAY!! Other other yay news from them is we don't have to go back till January!! Well only to pick up her glasses but I'm not counting it.

Wednesday we had a cardiology appointment with her new cardiologist in Boston. We love him! He actually gives us all the information and gives us his opinion! He's also seen other patients with ML although I think based on what he's said it's type 3. His news wasn't really great though. Amber's heart is working harder and deteriorating faster than they expected even with the mitral leak and the left side being very dilated. He told us that if we don't do anything surgically, even using medication, in the next year her quality of life will greatly diminish and at best she might have another 2 years. Right now she is at borderline emergency level for needing her heart repaired. Next Thursday she will have a heart catheterization and the MRI on her heart (and brain) to get more information on how soon we need to do the surgery. We are really hesitant about these procedures because she will have to be sedated/intubated for them. Her Dr's are concerned but not too worried because she did so well with intubation in June, it will also give them an idea as to whether or not she'll be able to handle intubation along with a surgery. We are praying as always for the best but still can not help being uneasy about it.

In good news the wonderful nurse practitioner from our metabolic geneticist set up the mother of all meeting with pretty much all of Amber's specialist! I could pee from excitement! It's something I've dreamed about but never thought was possible like unicorns! Can you tell how excited I am! To be honest it's very exciting but also bitter sweet since we won't be talking about very wonderful things like; what's the most important things we need to do to keep her quality of life good, what is actually going to happen with her, what they can and can't do with her and their roles in her life now. The guest list is; metabolic geneticist, his lady, pulmonary superman, the dread orthopedist, the new cardiologist, the never before met new neurologist, the P.A.C.T team (palliative care people), possibly our early intervention ladies and whoever I'm forgetting (other than us of course!).

 Here this is a good face to represent her grumpiness all week!

Since I know some of you are not cool with me missing "Wordless Wednesday" I squeezed them into the post. Can you guess what the title might have been?

Well that's all for now folks! 

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.

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!

Best Case Scenario

I just want to start by saying thank you all so much for your constant prayers and support we really really appreciate it!
Amber's surgery went better than they expected! The surgeon said it was the biggest morgani type hernia he's seen, and seen a lot of them! They had told us because it was so big it would probably need a patch which could cause an infection. Thankfully she did not need the patch! Her diaphragm was good and strong so it only needed to be stitched up and they do not believe it will re-open!
Going into the surgery she had a low blood level (they had issues taking blood the night before and took more than usual) and they thought she would need a transfusion during the surgery but ended up not. This morning they did give her a transfusion because her levels were low and they were taking more blood. She's doing a lot better since the transfusion, her hear rate is better and she looks better.
The pulmonary specialist visited today and was amazed at how well she is doing. He said it looks like they'll be able to take the breathing tube out tomorrow and get started on feedings through her g-tube. This is better than the best case scenario! We aren't getting too excited about this because they said it could change or they might have to put the tube back in. She is doing soo well though its very encouraging!
Amber had another echo-cardiogram done today. It showed that her mitral valve leak has gone from the mild range to the mild to severe range. They are not too worried about it they said that based on how dilated the left side of her heart is this is something she's been dealing with for months. They are going to start her on some medication for it and follow up on it in a few months.
Right now Amber is still pretty sedated, she actually has an epidural. She wakes up when they do things to her, as of this afternoon she seems more with it and alert when she's awake. She also seems relatively happy when she is up she even gave her PA Grammy a squinty smile!!
Everyone seems amazed at how well she is doing and how fast she is recovering. We know that this is just the amazing power of prayer! God has really blessed us and little Amber in that He has given us all the right people to care for her and all the right tests at the right time to catch everything that seems to have been troubling her.  Thank you all so much for the prayers you've been giving her. Please pray that whatever happens tomorrow is the best for Amber's recovery in regards to her breathing tube coming out or not. You can also pray that I have a better sense of peace about the whole g-tube issue.
Thanks again I hope you are all enjoying the great weather we've been having and have a lovely weekend!

Today's The Day

Amber's surgery in scheduled for 1:15 today. We're praying that the hernia is an easy fix, that there is no scar tissue or any other issues that will complicate things. Their major concern right now is still with the anesthesia. Because of her small chest shape they are worried that she will have issues clearing the fluid from the anesthesia. They've told us they will be shocked if she is able to come off of the breathing tube this weekend. It's looking like we will be here for a few weeks at the longest.
The newest news is that they've decided to put a g-tube in when she has the hernia fixed. This will be a "permanent" thing meaning she'll be coming home with it. They're hoping it will help with her overall development.  I'm not thrilled about it but it is what it is.
The hardest part right now is that Amber is not allowed to eat so she's very upset. The other hard part is not being able to nurse her, my supply is going down and it really is just an added stress I don't need.
Right now we're waiting to go to surgery so we're on the Pedi recovery floor. It's very loud and crowded, we have a very fussy roommate. After surgery we'll be in the ICU. I'm hoping for Amber's sleeping sake that we have a room to our selfs. Depending on Amber's condition it sounds like we'll be staying in the ICU till we go home.
Hopefully I'll be able to update again either tonight or tomorrow morning, it will depend on how Amber is doing. Right now Amber is playing and still smiling some...until she realizes how hungry she is!

Thank you for all your prayers and support we really appreciate it!

We Have A Date!!

This is a horrible picture! But we had a great birthday party for the boy! Despite the rain we still had fun inside playing the wii. It was very funny to watch my 85 year old grandparents learn how to bowl! We also had a very lovely dinner just the two of us.

I finally got the call today! We are all set for this week. Amber will be admitted on Wednesday afternoon and she will have her surgery at some point on Thursday. There are still some concerns from the anesthesiologist so hopefully things get worked out. I really don't have any information about how they will be doing the surgery. She will be in for a minimum of 4 days. Depending on how things are going I may or may not be updating.

Please be praying for us. We still have a few things to get set/altogether before we will be ready to go.

We Have A Date (kind of)

When you have a lot of Dr's its like the game telephone in the end the message is not what it sounded like when you started. After much to do and lots of explaining we finally have a surgery consult date set up for little Amber. We've changed insurances (ugh) and we're going to Children's (at the demand of our pedi.). Our date? Well its this Friday the 19th. Sounds familiar right? Its the same day as our long awaited appointment with a different geneticist who thinks she might have cracked the code. We're not sure when we'll get rescheduled, they pulled some strings last time I guess we'll just have to wait and see.

The good news is after talking to our main geneticist it sounds like her hernia is not that bad and this will be a one time permanent fix. Other than causing her difficulty to breath the hernia has not impacted the growth of Amber's lungs! It's yet to be decided if the hernia is the main cause of Amber's chest shape and poor weight gain. It could be a magic fix or it could just puzzle them more. The Dr did say that its almost guaranteed that it will fix her breathing issues. Our anesthesia fears have not been put to rest yet, especially after being informed that they will be deflating her lungs for the procedure. We still have a lot of unanswered questions that won't be addressed until we have our meeting with another geneticist who specializes in diaphragmatic hernias, the surgeon and the anesthesiologist.

On x-ray news the skeletal survey went well. It was shorter than last time and they did not have to retake any of! Thanks to daddy who has mad skills :) The full reports on her chest x-ray and skeletal survey are not in but so far nothing else bad has been found. The only new oddity with her is the rib bones look wide and spread out......yeah they have no idea what this means or if its a bad thing.

Crazy stuff but we're hanging in there. Amber has been in the best mood the last couple of day its been so much fun! Can't wait for this weekend!