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! 

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!

The Vegetable Garden That Could (and of course stuff about Amber!)

I had pretty much given up on the vegetable garden that I decided to start this year.

So I'm completely shocked at whats happened with it!

This is the first squash we picked!

 More squash growing.

 Something green.

 Cucumbers!

 The overall garden.

 More cucumbers.

 The pumpkin plants.

I can not really take any credit for this garden or these pictures (except the first one of the squash). My husband built the frame, put the loam and llama poop in, set up sprinklers and ended up planting the plants (while we were in the hospital). I did however spread the poop, mix wood ash in and pick out the plants, but that's it. My mom has done some weeding, manned some sprinklers and took the other pictures. I'm not sure how this garden got to be so monstrous, a few weeks ago it was pretty dead! The zucchini are starting to slowly come in and the pumpkins are huge and flowering but no actual pumpkins yet. It looks like we will have a huge crop of squash and cucumbers though! Today we picked three more squash and two cucumbers. The cucumbers tasted great and they made the whole house smells like cucumbers! I think we'll be having a dinner of squash tonight. 

In other news I've actually been motivated the last couple of days! I've finally done some long overdue cleaning and organizing. Sadly I'm no where near done. I should be catching up on my sleep today because Amber has a sleep study tomorrow night! I will have to fill her feeding bag, do medications and get her back to sleep by myself tasks that we usually divvy up at home but they only allow one person to stay overnight with her. Hopefully we can get some good answers from it!

Today we saw Amber's cardiologist and it was a bummer of an appointment. In Boston they stressed that she needs almost weekly echo's to monitor how her heart medication is working and that she would need an MRI soon to see how much her heart was actually leaking. They really stressed getting her heart fix (possibly surgically) because they felt that it's one of the major contributors to why she is so far behind and so small. At the appointment today the Dr felt that it was too soon to see any changes so Amber did not get an echo, they'll do one in a month but it didn't seem like it was a big deal. This Dr also thinks that we should wait till Amber is 5 or 6 before she has an MRI. Hmmm seems to me the last time someone said that (in regards to her diaphragmatic hernia) it got worse a lot sooner than they expected and Amber was the one left struggling physically. I really don't understand how one group can stress the importance of monitoring her and getting an answer and the other just wants to let things run it's course and not find out whats really going on. At this point my best option is to tell C.C.S. who's heard the first group's opinion on her heart and see what they can tell me. 

The goon news of today is Amber had a great Early Intervention session! Other than sitting, standing, walking,  crawling Amber is doing everything she is supposed to be doing at her age. Of course we couldn't help but show off that she does "raspberries" on command.  

And finally because it is "Wordless Wednesday" I give you; A Girl And Her Cat (what this post was going to be called!)

We're Home!

We finally got home around 9 last night! It was a rough night trying to figure out all of the tubing, feedings and battling an oxygen probe that still doesn't work right (waiting for new ones on back order ugh). I think Amber is glad to be home. She definitely missed sitting in her bouncy seat, that seems to be her favorite thing since we got back. When we came home from her first hospital stay she reacted to every toy like it was her long lost friend. This time she looks skeptically at them like they might bite her and prefers the toys she had in the hospital.
It is definitely going to take  time to adjust to the new schedule of feedings and medication, I'm sure in a few weeks it will feel like normal. What will be hard is organizing the boxes and boxes of medical supplies and assessing what we have and what we still might need.

Here is kind of an update on what's all going on/what went on by body parts:

Diaphragm: She actually had two central holes/hernias in her diaphragm they were both easily repaired no patch was needed. She has a small (maybe as long as my thumb) incision with dissolvable stitches, they're covered with steri strips (looks like gauze but similar to glue will fall off on they're own) but no special care is need and it looks really good. Her two week follow up is scheduled for next Friday the 9th

Heart: A post op echo cardiogram showed that her Mitral valve leak is no longer mild but severe and the left side of her heart is dilated. She also has high blood pressure. They have her on a blood pressure medication that seems to be working ok and she will have a follow  up echo done soon. As long as the echo shows that the medication is working she won't need surgery.

Throat: Her swallow study showed that she aspirates on baby food, regular liquids and nectar thick liquids. This means she is only safe to have liquids/foods that are as thick as honey. It also showed that she has silent aspiration meaning she's getting whatever she's eating in her air way even if she's showing no outwardly physical sings of it. During the study they thought her vocal cords were not coming together properly. They did a scope of her vocal cords and everything was fine. They would like to do a more conclusive test but they are in no rush to do it because her scope was fine and the test has to be done under anesthesia. So far Amber is doing amazing with the honey thickened breast milk (I know tmi sorry!!) but she is not sweaty (thanks to heart meds) and she is not choking at all!! It seems like a miracle.

Stomach/Feeding: This is the most complicated one. Amber's G-tube site seems to be healing alright, she does have a small bit of drainage and she's been having some weird bleeding the last few days. We're keeping a close eye on it and the Dr will take a look at it at her surgical follow up on the 9th. Because Amber is so small and not used to eating a lot we've been having a rough time with her g-tube feedings. When we were on the surgical floor they tried to increase her feedings too fast and we ran into a lot of really scary trouble. Thankfully CCS deals with kids like Amber all the time and they seem to have gotten a handle on her feedings now. It's not exactly the amount everyone would like to see her get but it a start. She is getting 24cc per hour of 26 calorie formula for 20 hours a day through her g-tube. She is also getting a minimum of 51/2 ounces (2 ounces at a time) of 26 calorie honey thick breast milk a day by mouth. The goal is that the combination of g-tube and mouth feedings will be at least 640ml per day (of course it would be more if she takes more by mouth however it can not be less that this). Everyone would like to see her be able to do more by mouth feedings, the problem is she burns a lot of calories to eat by mouth that she really wouldn't be gaining what she needs to develop properly. We have a follow up with nutrition on the 7th and hopefully at that appointment we will have  a bigger picture/plan of Amber's feeding.  All of the feeding is major life changing, more than they led us to believe when they "sold us" the g-tube, and it's definitely going to be a hard adjustment to make and a lot of levels.

We're taking everything one day at a time and trying to keep things as normal as possible. It is so nice to be home but I do miss having other moms like me to talk to and nurses to help. I was more comfortable bringing her home from the hospital when she was first born than I am now. I am very thankful though to have my mom, husband, friends and family (some who even have g-tube/special needs experience!) to help with all of her care. Of course the fact that she's so darn cute helps make everything better too!

Thank you again for all your thoughts and prayers while we were  in the hospital it really means a lot to our little family :)

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!

The Heart of It

***Please Excuse All Incoherent Ramblings ~ my brain is a tad too full**

I just want to point out how cute these two are.

Yesterday was Amber's cardiology appointment and its left my head spinning. I went in fully expecting that this appointment would be like our neurology one; go in find nothing make the Dr's happy that we can rule out something. On the other hand I'm not really surprised that they did find something.

As usual they didn't hear anything alarming and she had a normal EKG. Then she had an hour long ultrasound on her heart; I didn't get to see it but she watched the whole thing, it was really cute! The ultrasound showed that her mitral valve has a mild leak. This could be happening for two reasons.

1) it is common for people with Marfan syndrome to have a distorted mitral valve and leakage. 2) it could be caused by her abnormally shaped chest (which is a symptom of marfans and beals)

The good news is its not that serious so it doesn't need to be treated or fixed at all. They will be checking on it yearly to make sure its not getting any worse. We really don't know how this will affect her in the long run, if it could get worse or how it affects any permanent diagnosis for her. So this is why my head is full, I'm not quite sure how I feel about it yet. On one hand it would be nice to have a definitive diagnosis but on the other hand if her chest is causing growth problems for her heart now it seems like it could only get worse as she gets bigger. I guess we'll cross that bridge if/when we get there.

What I've really learned from everything so far is that its not worth getting worked up about something that you don't know about. We're taking everything a day at a time and focusing on the positive and what she's accomplished so far!

Remember This Guy?

Fisher Price's "Happy Apple" Well the developmental nurse had one and she's letting Amber borrow it. Its so great she loves talking to it, hitting it and hearing the bell! I can't even begin to say how great it is to see her acting like babies her age!

What Else is Going On?

• Well we had a great meeting with her Early Interventionist and the Developmental Nurse!
• On the 4th we have another joint appointment with our geneticist and orthopedist
• I have to make an eye dr. appointment for Amber (and I)
• After talking to different people we're going to make an appointment at Children's to get a second opinion

In the non Medical world of our lives (yes we do have one!)

• WE'RE GOING TO PA! we've been trying forever to get some time to get back down to visit the hubby's family so we're going for a few days at the start of next week!
• yeah that's about it.....

But I would like to remind you all that February 5th is "National Wear Red Day" (goredforwomen.org) Raising awareness for heart disease is very important because its the number 1 threat to women. I would really like to encourage everyone who reads this blog to wear red that day and take some time to look into the affects of heart disease in women and what you can do to prevent it.

* Now I'm off to enjoy this snowy day and maybe do some baking!*