Amber watching TV with a kitty buddy, from over the summer don't worry I don't let her go pant less in the winter!
It's been far too long since I've done a post just about Little Miss Amber! So much has changed with her, good and bad, even if I wrote everyday it would be hard to keep up with!
Without further ado here is a condensed update on what's going on with her.
Amber is still doing pretty well with her sitting and playing in a seated position. This week she finally figured out how to color sitting up and loved it! Unfortunately she's not sitting for a very long period of time and recently she's been sitting less because it's becoming too much work (breathing wise) for her. I'm hoping it's due to her being a little more constipated lately, there's not room for much in her trunk!
Unfortunately this year our holidays were a bit off and so most of my update can be centered around them.
Halloween was off because we had a huge snowstorm and trick or treating was postponed a week late! Amber doesn't go trick or treating but she does enjoy handing out candy, although it was a little too cold for her to be outside this year. Amber dressed up as a fairy princess, she loved playing with her dress!
Health wise Amber has had a pretty mild fall. We haven't seen much progression of her disease except with her gingival hyperplasia. It truly is crazy to think that most of her Dr's did not think that she would still be living when we saw them over a year ago. Even though it was exhausting to go to all of the appointments that we've been to in the last two years it has been so worth it to get her on the medications that she's currently on. She is no longer having any night apnea issues and she's at the point where most nights she sleeps through the night completely!
She has only been sick once this fall. Which brings me to our Thanksgiving, or lack there of. Thanksgiving morning Amber woke up very sick. She had a fever of 103, was super congested and spent the day sleeping on her daddy and I.
Friday and Saturday she seemed to be getting better. Sunday morning around 2am Amber's pulse oxygen level dropped into the 70's (she's supposed to stay above 96) and would not come up. After increasing her oxygen we consulted with our palliative care and hospice team we put Amber on her comfort care meds to help with her breathing. From Monday to Wednesday morning Amber was in really rough shape, the only other time I have seen her work so hard to stay alive was when she was extubated. It was the worst week of our lives and I personally haven't fully recovered from it.
The syringes from the yellow to the bottom white two are what she's on daily (minus one and not including inhalers/nose spray) and from the clear to the top white is what she's on when she's very sick. It's a lot to keep track of! Thankfully Amber has recovered nicely from being so sick, much to the amazement of her Dr's. She has been on "house arrest" since and thankfully has not been sick again.
Of course until the last couple of days but I'm pretty sure it's just a little cold.
Amber's big news is she now has TEETH!!!
She's only been working on cutting them for two years now!
It is no easy task trying to cut teeth through the amount of gums she has. I can't imagine how some of the other I-Cell children must feel, her gums are not as overgrown as most.
Its a little hard to see but this is her with her first tooth, that came in shortly after her birthday. She now has two very big front teeth! She also has one that's mostly in on the bottom left side and it looks like more will be coming through on the top. As exciting as it is for her to finally have teeth it opens up a whole new can of worms....as in issues and more Drs. She will now be seeing a special dentist because with the gingival hyperplasia comes a high risk of infection and unfortunately the quality of her teeth might not be very good. There are surgical options that are recommended but unfortunately Amber would not be able to tolerate them.
Everyday Amber is getting better and better in her gait trainer. She is walking forward so well and enjoyed being able to get at the Christmas tree this year! Recently she has become very purposeful about where she is going and stopping herself before she runs into something. It's so awesome to see her be able to get around and interact with her surroundings on her own terms.
Our little girl is really growing up. There is no questioning that she is two and a toddler! She is so much more expressive and tries desperately to communicate with us. In March she will be seeing a communication specialist, we're really hoping to find a system for her to be able to tell us what she wants with ease. It's heartbreaking to see her get so frustrated with her limitations.
Which brings me to another heartbreaking topic. Amber is very aware of her surroundings and is realizing more and more that she does not eat food like we do. It has gotten to the point were it is almost impossible to eat in front of her. She signs for our food, tries to verbalize, cries, gives us the most heartbreaking looks, tries to steal it or will park her walker right at your plate. She mimics eating sounds and movements and I think once Charlie starts to eat baby food it will be very hard for her. Because Amber has such bad aspiration issues it's very hard to even let her taste anything without her having problems. She will be having another swallow study and hopefully between the results and help from our new nutritionist we can find a way to give her food.
On the topic of eating Amber has been losing weight. She's not expected with her disease to be very big and all her life she's gained at not a steady rate but decent enough for us. Whenever we discuss Amber's weight we don't look at age or other I-Cell kids even we look at her and base it on her height and her tolerance. Tolerance meaning how her lungs and heart are, at a year when she was not quite 13lbs her heart and lungs could only tolerate that weight. Since then they have become stronger and can tolerate up to 14lbs. She has also been growing she's a little over 26 inches now. So between the growth and the weight loss Amber actually needs some help. We would like her to get back to 14lbs or at least stop loosing weight. To make things more difficult Amber is at her max tolerance of volume. Meaning Amber only has so much room at a time in her trunk, if you fill her up to much even over the course of a day she has issues breathing and her heart works too hard. We've started her on a powder (yes something more to add to her bottle) to get in an extra 32 calories. Even with this it could fill her up too much because of her slow digestive track (thank you low muscle tone). I hate changing anything with Amber's diet we wait till it's absoluetly necessary, it's such a delicate scale that can easily be tipped and usual for the worse.
The next couple of months will be busy for Amber. She has a cardiology follow up and will absolutely be getting another echo at the end of the moth. There is some worry her heart could have become worse because she was so sick and her heart rate was scary high. She has her dental appointment, GI (yes her button is acting up again), speech and possibly pulmonary. What we will be very busy with month and till September is Amber's transition out of Early Intervention and into some sort of school program. Yes I'm having an anxiety attack just typing this. The thought of her turning three, oh boy that is a whole 'nother story.
Amber also has an eye appointment next month. Thankfully! Since she got sick her left eye has been turning in a lot and both eyes have been crossing on their own. She has also figured out how to cross her eyes on her own and it's her favorite new past time. She furrows her eye brows, crosses her eyes, laughs and waves her fingers in front of her face. It's adorable but she does it so much she makes me dizzy sometimes, it really doesn't help that Charlie's eye have been crossing a lot lately as well.
I believe that is all, although I'm probably forgetting something! I spoke to our genetic's nurse practitioner half way through this and she informed me that Amber's labs look amazing. She is very stable her vitamin D is a little high, her white blood cells are finally normal, or other blood labs are a little low but normal for her and actually better, she is showing no signs of any infections and her C02 levels are a little better! The last is very good news we were expecting them to be more elevated than usual after her sickness. The other good news is that her kidneys are doing their job keeping her pH level good, when you have high C02 your blood can become acidic and thankfully hers is not.
When I think back to when we were told that her bones were more brittle than someone with brittle bones disease and yet she never had a broken bone. When we were told last year her heart was so bad she needed emergency surgery but wouldn't survive it or any sicknesses and she has. She survived 10 months with no pneumonia aspirating everything. With all of her skeletal dysplasia and low muscle tone we were told she would never do much movement of any kind. Now she's walking around in her gait trainer, sitting on her own for little bits of time, rolling around and jumping in her jumper.
Amber is truly amazing, she has done so much and come so far with what she's been given.
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