All About Amber

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.

And Baby Makes 4!

We are very happy to announce the arrival of Charles Luke "Charlie", he made his debut on Christmas Eve! Weighing in at 4lbs 13oz and 18" long. 

He had issues in the beginning with regulating his temperature and blood sugar but nothing compared to what they were expecting. His breathing is good. He has some apnea issues because of his receded chin. It causes his tongue to fall back into his mouth occluding his airway. He has more pronounced gingival hyperplasia than Amber did as a newborn, which makes feeding a little difficult but he is not showing any signs of aspiration! He is already up to 6lbs 4oz at 5 weeks! His echo at birth was very good, his only issues is his heart squeezes on the lower end of normal. He will have a repeat echo at the end of this month. He is already showing corneal clouding especially in his right eye, Amber's did not start clouding until she was 8 months. He also had the same brittle bones/low vitamin D problems that Amber had from birth. The major difference between the two of them is their muscle tone. Amber has always had severe low muscle tone and because Charlie moved less inutero we were really concerned about his. He however has high muscle tone! Meaning he can already lift his head when you hold him against your chest! The problem is he holds his appendages in very tightly against himself, especially his legs. This could cause contractures later on. On that note he currently has no contractures! He also does not have as severe/prominent of a chest shape as Amber did, it is narrow though. 

At birth Charlie was not really showing signs of being as severe as Amber was or really many signs of having I-Cell. Gradually over his first month we've discovered the high tone, bone issues, more pronounced cornea clouding and now liver enlargement. It will be interesting to see if his heart has changed as well. We are also still waiting for all of the genetic testing to come back to see his enzyme levels etc.. There was some talk when he was born about redoing the test to see if he had I-Cell but now that he is showing more features there is definitely no question that he has it and I don't believe we will. 

He only stayed in the NICU for 5 days and is in a regular car seat!

He loved snuggling his I.V. board, it was so cute!

Except for his hands and feet he has very petite features!

Having him in the NICU was a good choice health/help wise but for me it was not easy. My room was 4 floors above him when we were in the hospital. Once I was discharge traveling back and forth was heartbreaking. Amber didn't like us leaving and leaving Charlie was so hard. 

He is a very sweet baby and loves to be held and snuggled all the time! When he is awake he is very alert and makes the cutest faces. He's not quiet all the time though he's got a pretty good set of lungs and upsets more easily than his sister did.

 Amber loves him dearly it is so sweet to watch. When he cries she will talk to him in a very high sweet voice or try and pat his head. Although sometimes she mimics his cry or laughs at him! She insists on kissing him good night first every night. She also has to have "Charlie time" every day, where she gets to "play" with him on her blanket. She already tries to say Charlie and lights up every time he's near her. I'm not sure Charlie is always too thrilled about how much she loves on him, she's not always gentle! 

Life with the two of them is not always so sickeningly cute though! We have days and times where they both want Mommy at the same time or Amber is not so thrilled about sharing me. It helps that she loves him so much but it can be very stressful for me because I never want Amber to be upset or unhappy. Needless to say they both keep me very busy! I'm not sure if I'll every sleep, leave the house or have personal time ever again! This also goes without saying that my brain is like mush these days so I'm sorry if this makes no sense (I'm also not going to proof read!) but I figured it was high time I introduced the little guy!

Slow But Steady

I've got a quick update on how our little man is doing and then I promise the next post will be all about Amber!

 Just to recap at 24 weeks he was in the 31% and then at 28 weeks he was in the 7%. Our Ob was worried ect.. I'm very happy to say that as of this past Wednesday at 31 weeks he was in the 8%. I know it doesn't sound great but we're expecting him to be small and the fact that he's staying on his own growth curve is very good! Our Ob has finally calmed down and we're no longer talking about an early induced delivery (yay). 

I do have to go in next Wednesday for a non-stress test because he hasn't been a big mover/grower. These are supposed to become a weekly thing but I'm hoping he'll do so well we can skip them. Then in two weeks (on the 30th) and every two weeks till he comes we'll have an ultrasound to check his growth.
On December 8th we'll have a NICU consult. Not that we're expecting him to be early or have any serious issues but because of his known diagnosis he will need different/more assessment at birth and possibly some special care.

I can't believe how much his 24 week ultrasound looks like newborn Amber!

It will be interesting to see what he looks like. I can't believe how close it's getting!!

A Surprising New Journey

We are adding to our family! 

Although I'm not sure how much of a surprise this is. 

Most of you who read this already know and I've already updated the page with a ticker and it's on the little calender thing. 

It's been kind of a roller coaster ride, because nothing is simple in this house! 

We are due January 14th. So, yes that means I'm almost 31 weeks and I've about 65ish days left!

Here's a hopefully short synopsis of what's been going:

We found out near the end of May that we were expecting again.

We had our first ultrasound at 13 weeks. I honestly can't remember why they did it, maybe to get a better idea of the exact due date or to help monitor future growth. Things looked really good at this point, lots of movement. 

Since Luke and I are both carriers for I-cell and we went about getting pregnant "in the usual way" at 15 weeks we had to see a prenatal geneticist for a consult. There is a 25% that any of our children will have I-cell but this also means there is a 75% that they would be healthy.

At 15 weeks we opted to have an amniocentesis done. We also had another ultrasound at this point to check growth and to look for any possible abnormalities. We got a big surprise that day and found out that we are having a BOY! I had wanted the gender to be a surprise this time around but he had other ideas and made it very obvious to us! Things looked really good at this ultrasound too, he had a lot of strong movement so much that the tech could feel it too! The amnio itself was pretty painful and much to Amber's dismay made me take it easy for a couple of days.

20 weeks is when things really changed for us. Up until this point we had a really good, positive feeling about this pregnancy;over all everything was going well, he looked good on all the ultrasounds and I was feeling a lot of strong movement. Then we got the call that we were not expecting. He also has I-cell. We were devastated, it was just so unexpected. Things were so different when I was pregnant with Amber it was very hard and had so many complications. I always felt like maybe there was something wrong with her and I ended up being right. This time around has been so easy and uncomplicated that the diagnosis was really a shock to us.
 I think I prefer knowing now before he's born than finding out afterwards like we did with Amber. Although I can't really say it's been any easier getting this diagnosis a second time. Especially since we technically knowingly gave this child I-cell, it tends to make one feel like a bad person/parent. 

At 20 weeks we finally told the rest of our family and all friends that we were expecting, we wanted to wait until after we had the amnio results. At this point we also switched to a high risk ob office in Boston. We also had another ultrasound that showed everything looked good  and he was on track growth wise.

 We had another appointment and ultrasound at 24 weeks. I also had my glucose test, no gestational diabetes for this chick! He was still on track growth wise and looking good.

Per the request of Amber's cardiologist, who will also be this little man's cardiologist, we had a fetal echo done. This was at 26 weeks, I don't have any pictures from it but I'm happy to say at this point his heart looks totally perfect. It's in the right spot, all the valves and everything else looks good. This doesn't mean he's totally in the clear for no heart problems unfortunately. If you remember Amber's heart status/severity changed rapidly in the first year. 

This is the baby's face....

At 28 weeks things changed for us again. Our ultrasound showed that he is now behind in growth. It really wasn't that much of a surprise to us. We knew it was a matter of time and we went through the same thing with Amber. However with Amber we caught it later in the pregnancy and she actually came (unexpectedly) 2 days after we found out so never had the chance to monitor it. The little man had quite a big drop in size in the 4 weeks between appointments. At our 24 week appointment he was in the 31st percentile and at 28 weeks he had dropped to the 7th. Our Ob is/was very concerned, especially since he doesn't move a ton (also something we went through with Amber) and at this appointment told me that she didn't expect him to make it to the end of the pregnancy and they would consider delivery if he were a "normal" baby. Of course I am concerned about his drop in size and I would like to monitor it but I am not concerned that he might not make it. Unfortunately when there is a lack of information on a disease you tend to run into these types of situations, like Amber's last E.R. visit. It's your classic case of if the OB listened to me/Amber's geneticist or read the chart they might not have said those things.

We had another appointment yesterday at 30 weeks which confirmed (much to our Ob's surprise) that our little man was indeed alive! This means, starting tomorrow, I'll be going in weekly or so for ultrasounds to check on his growth. As long as he doesn't have anymore significant drops and stays on his own growth curve we can continue on like normal. 

 We have learned to much from Amber and she brings so much joy to our lives that we can't wait to see what our little man has in store for us. It's going to be in interesting new journey for us!

Someone Turned 2!!

Little Miss Amber Skye turned 2 this September!!

 I'm having serious issues coming to terms with the fact that I have a 2 year old. I don't feel old enough to have a 2 year old and I sure don't feel like she should be that old already! Where did my snugly baby go? Let me tell you she may still look like a baby but by no means did the terrible two skip over us. They do not discriminate against the globally delayed or medically fragile, aren't they nice! Don't get me wrong 2 isn't totally bad. We are really enjoying Amber's personality develop and her sense of humor. Her want to find a way to communicate is also finally coming along which is a very important thing to help avoid tantrums. I'm trying to not complain about tantrums because they are no where near as loud/violent as your average 2 year old.

Birthdays with I-cell are not always the funnest of times. We were very excited to celebrate Amber's 2nd birthday because 2 is a fun age and birthdays are fun. We were also excited to just be celebrating because so many people didn't expect her to make it to this birthday (us included at some points in the past year). I wanted Amber's birthday to be something big, special and memorable. Unfortunately when it comes to I-cell and birthdays or any special event there is always that horrible, horrible thought of "this could be her last one". 

On top of the uncomfortable conglomeration of emotions her birthday brings there are also the unfortunately realization of not being able to celebrate her birthday in a "normal" way. Most birthdays involve cake. Well Amber does not do well with baby food and can not swallow/eat pieces of anything food type or not. The worry of her aspirating and getting pneumonia or worse, kind of takes the fun out of birthday cake. Then there is the question of the party. Amber loves people and other kids and would really enjoy a huge party. Unfortunately Amber's birthday is at the beginning of the cold/flu season meaning most people are sick or around too much sickness to be around Amber. We would love to make her happy with a big party but again the risk of her catching something really takes the fun out of it. I had such a hard time with all of this this year that I almost didn't do anything for her birthday and then that lovely thought of it possibly being her last popped into my head and made me feel even worse.

So we found some middle ground! We decided to go places for Amber's birthday. We planned a Zoo and a Farm Zoo trip. Both outside with little to no risk of her catching anything and thankfully the weather cooperated (not too hot not too cold) so she was able to be comfortable being outside! It was the perfect solution she loved seeing the animals and people and best of all she did not get sick!!! We also had two little family parties for her with our MA and PA families. We did do cake; well cake at one party, cupcakes at another. Amber stuck her hands in the frosting but didn't eat any of it so she didn't have any issues. It also helps that Amber is so stinking adorable, loves to be the center of attention and loves opening presents! I think she could make any situation fun!

I would like to also thank everyone who stuck with me through my hiatus. I believe I'm ready to return now and please excuse any awkwardness in my posting I think I've almost lost my knack for writing coherently! 

Oh Hi Blog!

So it's been quite a long long time since I've blogged. So long in fact that apparently blogger has changed it's layout. I've got a lot to re-learn and I'm hoping this post comes out alright. I've got a lot to fill you in on but thankfully it's pretty much all good news! I'll focus just on Amber in this one and then finally post a bunch of half posts that I've got, yes I really had no excuse for not blogging.

I left you all in June in a rather downer of a mood. Amber had been suffering from pneumonia pretty much non stop since Easter. She would be horribly sick for a week (usually less) before we could get her on an antibiotic. Then she would stay horribly sick for another week or two before finally getting over it. She would be off of her antibiotic for a week before she was sick all over again. We felt like the cycle would never end. Pneumonia is probably one of the worst things an I-cell baby could get and unfortunately usually how they go. Thankfully as of the beginning of July Amber has been pneumonia free and we're going on two months of her being off of an antibiotic! We're praying she can continue to stay healthy.

I'm also happy to say that not only is Amber staying healthy she is doing incredibly well right now. As of right now her Dr's are not seeing any significant progression in her lungs or heart. This is great news especially after all the work the pneumonia put them through. Her gum overgrowth has progressed some but it's still not affecting her day to day quality. Her cornea clouding is a little worse but not really affecting much and her eye sight has improved some!

Physically Amber is also doing really really well! She is starting to sit unsupported for very short periods of time! Last year Amber started rolling onto her tummy but not very easily or very much. She is now rolling on to stomach a lot and twice now she's rolled herself back onto her back! She has also been trying to reach far for things while on her tummy and she's starting to lift her butt up. I wouldn't be surprised if she figures out her own way of crawling soon. Her other new thing is when she's in her walker instead of pushing back with both feet at the same time she pushes back one foot at a time, like you would to walk forward but only to move backwards. I'm also excited to say that her gait trainer has been approved by insurance and has been ordered!!

Overall Amber has really been surprising us with new things and doing so well! She's even been sleeping through the night, of course since we started night nursing! We could not be happier and we're praying she can stay like this for as long as possible!

Return Of The Zombie Mom

I really did mean to blog again before the NSTAR walk!!

 Unfortunately for you this means I have a lot to catch you up on. 

 We had a wonderful stay in PA. All of the pictures in this post are from our stay in PA but these are not all our pictures!  We were able to see a lot of family and have a lot of fun! Amber and I were supposed to stay for two weeks and unfortunately had to cut our trip a few days short because Amber got sick again. 

 We brought Amber to her pediatrician almost as soon as we came home and were told that she had pneumonia in both lungs. This was really scary because we're constantly told that an un-treatable pneumonia is most likely the way she will go. Thankfully since we caught it so quickly the antibiotics were able to do their job pretty much right away.

 Amber was back to her almost her normal self quickly but her lungs have taken a very long time to clear out. She finally sounded "alright" last week and is totally back to herself this week.

 We've finally started home nursing!! We've had a nurse during the day the last two days and I've loved it! I've been able to bake Luke's birthday cake stress free, get laundry done, do some much needed re-organizing to Amber's binders and blog! 

 Once "training" is done we'll have a nurse for 2 nights and 2 days. I know I've really been fighting bringing them it but it will be nice to have a little bit of a break, be able to sleep and get some much needed things done around the house. It will especially nice to have them the next time Amber is sick.

 I think that's all other than a few nightmares with our oxygen company and a few of Amber's prescriptions. I do have to say I'm not quite a Zombie Mom at the moment. This last round of Amber being sick was really rough though I had totally lost my mind hence why I wasn't blogging and I was putting the phone in the fridge. Thankfully Amber has been sleeping well for almost a week now (of course since we're going to be bringing someone in) and I can slightly turn my brain off when the nurse is here. 

 I do have a bunch of posts "in the pipeline" and I promise the next one will be about the NSTAR let's just say it went amazingly well!! Amber is appointment free until July!! We're praying that she can stay healthy she's been off the antibiotic for a week now. Last time she only had a week off before she got sick again, she's got to stay healthy so she can be a flower girl for July 2!!

I do have to say... YAY BRUINS!!!!!( Sorry to our canadian I-Cell families.)