Nightmare Of A Weekend

As a prefix to the rest of this post I would like to first inform you that Amber has been sick since Easter Sunday afternoon. Last Monday and Tuesday her fever was 102-103. By Thursday and Friday it seemed that she was getting better. 

This is her Friday afternoon playing in the sink. I put her to bed Friday night and everything seemed fine. Set up her feeding bag around 10 and checked in on her around 12:30 because she was coughing. At 2:30am she started coughing and choking so I went in to suction her. I always wrap her up tight in her blanket before suction so she can't fight me. When I pulled back her blanket she was laying in a pool of blood. I can't even describe to you how scary it was. I opened her P.J.'s and could see it was coming from the G-tube, I was a little relived because I thought she had pulled her G-tube out.

We brought her downstairs, took of her G-tube dressing and called the PACT team to help asses the situation. It took us over and hour to stop the bleeding. It was coming from the around the G-tube (aka G-tube site) but we couldn't tell what was causing it. Because she didn't continue to bleed her Dr decided she didn't need to be taken to the E.R. and as long as she didn't start bleeding again or show any signs of a more serious problem we were probably fine and should just follow up with G.I. or her pediatrician. 

Yes this is our goofy girl at 3 in the morning kicking her legs! 

The next morning she was running a fever of 100.7 which isn't a bad fever but had me worried because she had been fever free for a little over 2 days. On top of the bleeding from the night before I was worried it was a sign of a stomach infection and after consulting PACT again we decided to bring her into the E.R. to run some tests and just make sure she was ok. 

Things just got worse from here on out according to the E.R. Drs but not too bad according to the ones that know her better.

The E.R. Dr's decided the bleeding was due to granulation tissue (gross tissue overgrowth basically). This answer didn't necessarily surprise us because she's more prone to getting granulation tissues and G-tube site issue when she coughs a lot . Here is an old post the last paragraph kind of explains why this happens to her.

The G-tube trouble shooting took no time at all and we should have gone home then but they were concerned about her sickness. They called for chest x-rays and some blood work which was fine with us. They also did the blood work she should have had on Thursday, all she needed for that was whats called a venus blood gas (aka VBS) which tells you how well the lungs are removing co2. 

The x-rays showed that parts of her lungs were deflated, which can happen with bad respiratory infections but could also be the start of pneumonia. It also showed that the vertebrae in the top of her spine/neck are starting to slip, this can happen with her disease. 

A normal VBS is around 40, Amber's is usually 50 Saturday night hers came in at 68/71 (they drew it twice). 

Needless to say this was not good news. The E.R. Dr's seriously overreacted.  They wanted to rush her to ICU and intubate her, something that Luke and I have decided against. After telling them intubation was out of the question they were trying to push us to still go to ICU and put her on a CPAP or BPAP machine but couldn't promise that she would ever come off of it. They also told us that if we were to take her home that night we should be firm in our decision because she wouldn't make it through the night. Yeah, we were shocked. We know her disease is progressing but we were not expecting to hear news like this this soon.

We decided to have her admitted to the C.C.C. (complex coordinated care) floor for overnight observation and if her breathing did indeed worsen we would decided what intervention to go with. She had a normal sick night. Meaning she had coughing, choking and some oxygen saturation drops but nothing seriously life threatening. 

Like any nightmare things were better in the morning. We got to talk to the PACT team and hear from her geneticist and pulmonologist. The first thing they told us was she could definitely go home! They said that although the chest x-ray looked like the start of pneumonia it looked more like a viral or bacterial infection but would start her on a heavy duty antibiotic just to be on the safe side. They also said that the results of the VBS were not surprising, show that her disease is progressing and they feel that (like being in the 50's) it's something that her body is adapting to.

Where do we go from here?

First of all Amber got a new G-tube! Oh yeah, the whole reason we were there was for the G-tube issue! This is the old gross, icky, nasty one in the picture. G-tube are pretty interesting (to me) and therefore one of my next posts will be about them. 

Second the spinal slipping. Isn't a great thing but it's another thing that shows she has I-Cell (as if the blood work and everything else wasn't enough). At this point until she sees her orthopedist were not sure what this means for her. It could mean her car seat could change (again) but we already handle her with extreme care. Any surgical fix like always is out for her.

For the sickness and breathing difficulties we'll need to follow up with her pediatrician and see her pulmonologist again.  It's definitely frustrating that we can't really do anything more for her. I'd love to tell you she's feeling better already but it's hard to tell. Yesterday she had more energy today she didn't and her fever was back to 101.9 tonight. Her cough is definitely not getting any better and it's a little worse than it was this weekend. We're just praying the antibiotic kicks in and she can get over this!

The best part of this weekend was Amber by far. Even though she is/was so sick she was being so silly. One of the best moments was; she was laying on the bed in the E.R., looking up at the ceiling, talking and laughing. After about 20 minutes I looked up to see what she was being so friendly to and saw this red balloon! 

She's also turned into a huge flirt she gives everyone (and somethings things) kisses!

I think I'll stop here for the night! I'm sorry about the information overload!

Tomorrow Amber has an evaluation with Early Intervention, we're praying she's healthy enough to cooperate. Friday we have an interview with a nursing agency we're thinking about brining into our home. 

Amber's New Wheels!!

Yesterday Amber started her trial with a Rifton Mini Pacer Gait Trainer!

It's soo tiny!

 It took a lot of hands to get her all set up. 

From the left; Amber's early intervention therapist, me, my dad, the equipment vendor and Amber.

 Amber's taking a break here and we're learning about all the adjustments we can make.

 It took us almost an hour and a half to get her fitted right but once she was comfortable she loved it!

It has a ton of available adjustments which is perfect for Amber's strange shapes, you can't even tell one of her legs is shorter!

 It forces her to be in a standing position, something she's not totally used to.

Because of this it's going to be more work for her until she's used to it but she's already doing really well.

 It has a ton of "accessories" to help positioning. 

Amber is using the chest prompt, the hip positioner with pad and hand holds. Since this is the trial version it also has ankle prompts, hand loops and the guide bar attached (in previous pictures). 

 It's designed to grow with her and also change as she strengthens.

Everything can be removed so it can also be used as a regular push walker.

She really likes it and since the wheels can swivel and go sideways she's already able to move and go places she can't in her regular walker. Amber is still pretty much going backwards. The wheels have settings to change how easy/hard they roll and you can also put breaks/locks on so she can only move forward.

I took this video at the end of the day, so Amber's a little tired. She can move around with her body straight and her head upright. At this point she had just discovered that she could see the floor so she wouldn't look up at all. Sorry it's kind of long but you know how kids are as soon as I stopped videoing her she would move! I did miss her two tiny steps forward but I'm sure in no time she'll be all over the place!

We have the walker for about three weeks and then the therapist and us will have to decide how beneficial to her and her development it would be. 

The Ever Amazing Amber

Apparently Amber missed the memo that's she's not supposed to be able to do most things that "normal" babies do. In my last post I talked about how she had started sitting unassisted on our laps. I've seen other babies use a boppy to help them learn how to sit. So this morning I  thought I'd give it a try with Amber. 

Yes she's SITTING! Something we never thought she would do! This is her second try. At first she was really excited about throwing herself backwards but once she got over that she did really well! 

We also played around with sitting her on her squishy pillow with the boppy behind her.  In this position she can put some weight on her feet to help stabilize herself and hopefully reduce any pain she might have in her back (something we've had issues with before). She did really well in this setup too. 

On the floor she's forced to have her back straighter. We thought this would be more uncomfortable for her. Actually she seems to breath better this way and it seems that she can get her balance better too. She sat this way for a little over 20 minutes! The more she sat the better she was at it. She caught herself from falling back and was able to play with a few different toys. 

She loves it and did not want to take a break!!

I think this accomplishment and the fact that she's feeling/sleeping a lot better is the best way to start out our busy week:

Tuesday, we have a home visit with our PACT team (the palliative care people)

Wednesday, Amber starts her trial with her gait trainer (walker)!!! 

Friday, Amber has a 18 month Well-Baby visit/follow up to being sick

We're looking forward to a productive week!!!

Miss Amber: "I am not a baby"

Can you believe that our little Miss Amber is going to be 18 months on Friday!!!! 

I can't! 

Amber would like everyone to know that even though she looks like a little baby she is no baby!

When she's not feeling sick she is quite the energetic, busy bee!

She plays her own games and thinks everything is funny.

 Anything she can get her hands on she'll play peek-a-boo with, including her oxygen cord.

 She recognizes people in pictures (She's looking at a picture of her, Grammy and Pappy).

We're working on a new form of communication using pictures of her things. She's supposed to pick the picture of the thing she wants to get that item but right now she is more interested in playing with the pictures than playing with or using that item. 

She is getting so strong! She's sitting really well on the couch and on laps. Her body control when you're holding her has improved so much. We really don't have worry as much when we hold her. She can spend a long time in her jumper now and usually prefers to be more upright during the day. She is also doing really well in her walker. She is still only going backwards but can now turn herself to the side and rock back and forth in it. One night before she was sick she backed herself into the bathroom off our kitchen about three times and was very content to sit in there and talk to herself, it was so funny!

This is one of Amber's favorite things. A "taggy" blanket made by one of my cousins. 

Somehow she always manages to get that certain loop in her mouth. 

She loves to stuff a loop and a bunch of the blanket in her mouth and talk to us.

Her other new favorite toy is a baby bottle. She loves to feed her baby and this puppy.

 However Pooh Bear does not get a bottle. 

She makes the funnies "No mommy" face when I feed Pooh Bear this way or tell her to.

She still loves her "beads". Her fine motor skills are really coming along. 

When she first got this toy at Christmas she would hit the beads to move them or try to move them with her hand closed.

Now she grabs a bead, pulls it to the top and lets it fall.

Sometimes it takes a few tries but she's so happy when she does it right!

She finds humor in everything!

 She squeals and screams in happiness now, I have to get it on video because it is so adorable! 

Everyday she seems to be doing or saying something new, I can't seem to update quick enough!

Her speech is improving. She has so many sounds and "Amber words".

She really is more of a toddler than baby now. When I'm changing her diaper I'll ask her to lift her legs or put them down and she will! She knows where eyes, nose, mouth, feet and hands are on us, baby and herself. She just needs to learn "no" :)

She is moving on the floor more too! She can plant her feet and lift up her butt, which doesn't really move her too much but it's really cute! Her rolling back and forth, leg lifting and stretching is really impressive now too. 

What a difference between this year and last year!

Tomorrow we're in Boston for a follow up genetics appointment. Our break has ended and we'll following up with all the specialists this month and next.

Thanks for reading!

Back From Vacation

Hello! We had a wonderful time visiting our family in PA and had a very hard time leaving!

Amber loves being the center of attention and having so many people to play with her. We were there around Valentine's Day and had tons of fun making valentines and decorating cookies! Luke surprised us and came down for the weekend! 

Amber loved watching her aunt and uncle's basketball games and making friends with the other little kids there.

We always enjoy spending time with our family but it never seems like enough time! 

We've been back for about two weeks now. Our first week back is always hard. Amber gets so used to not being by herself and sharing a room with mommy that it takes her a while to be happy by herself again! 

Last week my parents came back! 

Unfortunately Amber came down with a really nasty virus last week and had a really rough weekend. Thankfully she seems to finally be getting better. 

I feel really bad that I took most of February off! Amber has so many new cute things she's been doing that I have to fill you in on. We also have a lot of follow up appointments to go to this month and next.

Hello Blog Did You Miss Me?

Can you believe it's been a month since I've posted anything. I feel really bad in a way but I just haven't felt like blogging. There hasn't been much excitement here. We had a great New Years with our PA family and had a lot of fun but it was way to short. Honestly this has been a pretty boring month, it's been cold, people are sick so we're staying in!

So you're probably wondering whats going on with the little princess. She is very talkative, she can even say her name now!! She's still gaining muscle strength and even got fitted for a gait trainer! We're looking into water therapy programs for her, to increase her strength and get her stretching in in a more comfortable environment. Amber is definitely not a baby anymore! Everyday she acts more and more like a toddler and big girl.  The only bummer of the month is she's been running a fever on and off and de-sating a lot at night, since she has not other sickness symptoms it's a tad concerning to her Drs'.

For upcoming appointments she has an eye appointment tomorrow and a genetics appointment on Friday (weather permitting).  Our other upcoming appointment is a week long trip to PA!

You might have seen this on facebook but I think it's good enough to repost!

Ring Those Christmas Bells!

I am so happy to say that Amber made it to the church yesterday and was able to be in the Sunday School Christmas Program! It was a really rough morning for her but she pulled through and didn't have any issues until we were ready to leave church!

She was so cute! We sat her in her Bumbo seat in front of the other children and it worked perfectly! The teachers sang "Gospel Bells"  while the kids rang their bells. They were supposed to be singing too but it was hard enough to get them to ring the bells!
Amber was one of the first to be handed her bells and she started ringing them madly! When I stepped away from her and she saw all the people she got stage fright and stopped ringing them. Even when she saw me she wouldn't shake them again, just gave me a "deer in the headlight" look! Finally when she saw one of the leaders (who happens to be one of her great aunts) she started ringing them again, only after she stopped being enamored with her singing and ringing bells too.
I was so proud of her! She did so well, didn't have any issues and then sat quietly on my lap and watch the rest of the show! She really is a very good baby!

She was actually happy the rest of day too! Since she's been sick seeing her happy and herself is a rare thing. We took advantage of it and tried to get some cute Christmas photos!

This was another miracle of the day, that she actually sat in the rocker! Of course the non skid stuff under her butt and the fact that the rods in the back of the chair cradled her head helped a lot too. None the less she was so happy to sit in it and find out that she could rock it! I would just like to know where my little baby went! She is looking and acting so grown up these days.

Finally something that I know you wanted to see!

Ringing her bells! 

I'm really hoping that I can get a copy of the program from someone who tapped it! A lot of Amber's family were unable to see her (including her daddy) and I know that they would love to see it!

Hope you all had a merry weekend! I've got quite a lot to do this week, someone very special is coming home very very soon!!

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.

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!