Poor Little Amber

She is still very sick :(

This picture is from last Tuesday on our way home from her appointments.

 She fell asleep while she was trying to eat the tag on her doll. 

This Tuesday she did not want to get out of bed!

The pneumonia Amber was fighting last week is gone but unfortunately over the weekend she came down with a viral infection. For Amber viral infections are bad news. There really is not much we can do for them medically, no antibiotics it just has to run it's course. This one has hit her pretty hard, it didn't help that she caught it at the end of having something else, it's been rather touch and go all week. We have her on the highest flow of O2 she will tolerate. We're keeping up on her medications to help fight secretions, fever and we have her on one of her comfort care meds to help with breathing and heart rate. We've gone to all feeds through her g-tube and feeding her only pedialyte. So far things have been going alright, it's been a struggle for her but we've been managing. 

Last night and today she went back to demanding a bottle and tolerating it pretty well. She seems like she's getting over the viral infection but unfortunately her poor little body is so tired from fighting that now she's having breathing issues. All day today she's been very lethargic and having episodes of her O2 levels dropping and some mild cyanosis. At this point we're concerned that her CO2 levels are on the rise again. There isn't much we can do for this. We could bring her in and put her on a CPAP machine, something we've ruled out before because we don't think she would cooperate with it and could make her more upset. Her levels were elevated last spring but came down on their own once she was feeling better. We're really praying that this is what's going to happen this time around. We'll be keeping an eye on her tomorrow and seeing how things go.

Feeling a little better yesterday, playing with Daddy.

This also means the appointment I made a year ago for her with the augmentative speech clinic will have to be canceled. This is really a bummer to me because I have been fighting since she was 1 for her to get speech help of any kind. I was so excited to get her into the clinic and so excited to see what they would be able to do for her. I can't explain how hard it is to not be able to communicate with your child, especially once you start to see how frustrated they get in their inability to communicate. Hopefully we can get her appointment rescheduled soon and not have to wait another year. 

Hopefully we can just get her feeling better and back to her fully happy self!!

And here is a non sick picture from a few weeks ago. Daddy with his two babies! Amber's telling Charlie some sort of story here, I know she doesn't look too happy but she was!

Amber's Latest Appointments

I'll start Amber's update back to February 18th. That Saturday morning I opened up Amber's pj's to find a very weird, very new bump on her chest. I'm not sure if you can see it in these pictures but it's off of the top left corner of the gauze. There is a slight shadow where it is, it's actually a bruise forming.

 She was not showing any signs of pain but we still brought her in for chest x-rays anyways. The x-rays showed that there was indeed a difference to her right side which wasn't there before but it was inconclusive as to why it was different. You can see it a little better in this picture.

 Fast forward to this past Tuesday. Amber had her chest x-rays repeated and again there is something not quite right in that area but we are still not sure what it is. We have ruled out hernias, it's definitely a bony protrusion and we're thinking it's a slight fracture or possibly a dislocated rib head. She has such a high pain tolerance that it just didn't bother her. We're also having them re-read because they were focused on the new findings in her lungs. It's definitely weird how fast it showed up but thankfully it's gone down in size some.

February 27th both babies had a cardiology appointment.

My two trouble makers, Amber was pulling Charlie's leads off!

 This appointment was kind of a nightmare. Neither of them were happy, they both wanted to eat as soon as we got their and were very uncooperative with what needed to happen! Amber finally got another echo! She had not had one since she was a year old, she used to get them every 6 months or so. The echo showed that she still has the severe mitral valve regurgitation and she now has mild regurgitation in her aortic valve. It was kind of disappointing to hear but I'm not surprised. This explains why her heart rate has been sky rocketing when she's sick. Thankfully she's not showing any physical signs of it being a problem so we won't be changing any medication. She is also at this time not showing any thickening in the valves, something that is common in I-cell kids and we would assume to see in her because of her other heart problems. The other bummer news we got at this appointment is that her liver size has gone from a 3 to a 5. I won't lie I'm not 100% what the number mean. I do know that the liver is bigger. This would also be another indicator that the heart changed. It's a bummer because it gives her even less room in her abdomen for what needs to be going on in there. We're also thinking this is why her stomach contents in leaking out around her g-tube more (it's pretty gross). Amber will go back the end of August for a follow up, I'm hoping they'll do another echo at that time to keep an eye on the new aortic leak.

February 29th Amber had Dental and they both saw Genetics

The dental appointment was quick. Amber has a ton of teeth in now and a ton more coming. It's so much fun! She's very cute with her teeth but she is very unhappy about cutting them. We were told the integrity of her teeth is very good this puts her at less of a risk for infection and the teeth are all coming in where they would expect them to be with her hyperplasia so no issues there! We do need to keep an eye on her tongue because she has a few coming in underneath it so they could rub/cut the tongue and cause ulcers. If this were to happen we would have her teeth shaved down, something that would be quick and be done in the office. Thankfully though they don't think her teeth are too sharp at this point and so far we're not having any issues.

Friday March  2nd Amber had a G.I. appointment

This appointment was ok, it was with a new Dr. They didn't really have any answer as to why her stomach contents have been leaking out around her tube. Sometimes she up to at least an ounce come out. The Dr did say it could be the liver and lungs pushing on the stomach. Amber has also been having really bad constipation issues again. She normally gets a 1/2 tsp of Miralax through her night feeding and this used to keep her regular. Now we're doing up to 10mls of prune juice through her g-tube during the day. We were also giving her additional Miralax during the day but this was making her extremely uncomfortable and she would through very violent tantrums. The Dr suggested giving her a probiotic called Culterelle mixed with water through her g-tube to see if it would keep her regular without the extra Miralax. This stuff has worked like a dream and I would highly recommend it to anyone who has constipation issues!!! We still have to do the prune juice and her night time Miralax but it's keeping her regular and keeping her comfortable! We finally have our happy baby back! It will also be beneficial to her while she's on her antibiotic because that causes her to go too much.  

Back to Tuesday March 6th

One of Amber's favorite toys a fortune cookie. She also got into mommy's root beer and decided it would look better on on her shirt!

As I mentioned before Amber had her chest x-rays this day. She also had a swallow study that was an epic fail. Now usually their really good with her but that day they wanted to do their routine and didn't take into consideration that Amber is a 2 year old child and not a machine. They fed her the baby food first (something that is a treat for her) and then tried to feed her a bottle. So needless to say she refused  to take the bottle. To make it worse they tried to bottle feed her straight barium (yuck) and used a regular nipple. She had to work really hard to get it out and then was really grossed out by what she got. By the time they finally listened to me and tried the barium formula mixed with her "Y" cut nipple she was beyond wanting to eat anything. They did clear her for baby food but I'm extremely skeptical because she did not eat a lot of it and it was way thicker than what we would be giving her at home. 

We get to go back in a month or two and try again. They did say the next time we come they will listen to me and they'll have it set up so that I can hold her and feed her her bottle. I'm still not sure if we'll try again or not.  We already know she has severe aspiration issues and it's very uncommon for things to get better with her disease. we might try the thickened baby food recipe our nutritionist mentioned but we're in no rush since Amber is sick. We also get to see a feeding specialist in a month or two as well. I don't really think our feeding issues are due to how were feeding Amber since her previous study showed that it was how her esophagus closes but I would be open to hearing how we could get her in a better position for the baby food feedings. 

Amber has a few more appointments coming up. This coming Tuesday she has an eye exam and this coming Friday she has her appointment with the augmentative speech clinic, so hopefully she's feeling well enough to be able to make those! Other than that she has a few here and there throughout the rest of the spring and summer. 

I'm going to try and take a nap now! 

I apologize for any repeat information but I have no idea what I even blogged about yesterday :) 

Don't forget to turn your clocks back one hour! 

Busy Bees

Things here have been busy busy busy! Both babies have had a ton of appointments and have a ton of appointments coming up.

Last week they both had cardiology and genetics and Amber had G.I., vision therapy and dental. This week they both had chest x-rays. Amber had a swallow study and Charlie had knee x-rays. We also started Amber's schooling process and Make A Wish process. Next week they both have ophthalmology and Amber has her appointment with the augmentative communication clinic. In the next couple of months Charlie will be seeing orthopedics and have a therapy evaluation. Amber will be having another swallow study, GI follow up and be seeing a feeding specialist. Not to mention our usual weekly early intervention therapy, monthly vision therapy and weekly hospice/nursing visits. Oh and any other additional specialist visits they throw in there.

On top of all of this Amber is unfortunately sick again. She seemed off on Tuesday and was having issues in her car seat. The chest x-ray she had on Tuesday showed some additional atelectasis (meaning the air sacs are not fully inflated) than her usual amount in her left lung. Normally we would assume that it's just a progression of her disease. However since we were/are hearing a lot of "crackling/wet sounds" in that area and she had/has a lot of congestion and a very high fever (up over 103) it was safe to assume she has a respiratory infection (most likely her usual pneumonia). Thankfully we caught it quickly and started her on an antibiotic Wednesday night. I think because we were able to catch it so quick she's not as bad as she was in November (I've only had to use one comfort care med once) but she is still struggling a lot and her heart rate has been really high. We switched her to a stronger medication for her secretions and increased her O2 flow which gave her a better night sleep last night. The lower part of her right lung is now sounding a little wet today but she's in a much better mood so hopefully we're on the road to recovery.

It's been non stop here lately. We unfortunately had to let our night nurse go so we'll start interviewing new ones as of tonight. Luke was in a snowboarding accident last week and got a pretty good concussion. He was laid up for a few days but is doing much better. Amber was seriously unhappy with her lack of  "daddy time".  I'm gearing up for arm surgery at the end of the month. I'll have a plate and screws taken out that have been giving me some trouble. It will be interesting to see how the babies will do with less "mommy time" for a day or two and how mommy will do with less baby time! When it rains it pours! Thankfully Charlie seems to be doing alright and thankfully Amber was not sick last week and should be healthy for my recovery.

I'll definitely have updates about their latest appointments in the next couple of days because I'm righting them up right after this :)

My Lovely Little Valentines

The babies had their Valentine's Day "photo shoot" yesterday and although they looked super cute they weren't too happy about it. This is the winning photo of the day! It took about 5 of us to keep them semi happy!

 Here are a few outtakes:

 This is probably the happiest one of the bunch!

Amber is on the verge of her grumpy face here!

The babies and I had a very good Valentines day. The morning was a little rough, we said good bye to our visiting PA family and Amber did the 3 P's for her nurse. Puke, poop and pee so she ended up in quite a few different outfits! The afternoon was just the three of us, were getting pretty good at it. Charlie had a poop explosion, he wanted to get in on the outfit changes too. The poor guy was not happy about it though and Amber patted his head very nicely for a while trying to calm him down. Well that lasted only for a little bit and she gradually got more frustrated that he was not calming down for her so her patting turned to hitting and the next thing I new he was wailing on him with her binkey! Now normally I wouldn't let it go that far but I was up to my elbows in poop literally! 

It's been a poopy day but it's been a chatty day as well. Amber in response to  one of her Kitty books very excitedly told me "kitty, kitty, kit, kit, YAAY". She also yelled "Amber" at her Daddy and signed for her bottle while he was feeding her. Charlie, not to be left out, has been really trying his hand at "cooing" today. He's also becoming infatuated with his sister, looking for her whenever he's awake and she's talking. 

I have to say I lucked out having two very cute little valentines this year!

The Best Of Friends

Amber is turning into such a great big sister. 

This week Charlie has really started to "wake up". He's more alert, starting to get interested in toys and trying to make cooing noises, well it sounds like "whoo".

Charlie was getting some therapy time in the bean bag yesterday and Amber rolled right up to see him. 

They chatted for a while. Amber talks to him in a "baby voice" like we would talk to a baby and he whoo'd back at her. I think they were deciding who would keep me awake for which part of the night! 

Amber had the first shift, Charlie got the second and they both fussed when Daddy left for work at 4.

 And we all took a well deserved long nap this afternoon!

I'm not sure how much longer they'll both fit on my lap and in my arms!

She loves her "Charlie time", tonight she was helping burp him.

 I hope Charlie grows to love his sister as much as she loves him, he's not always too keen on her "loving"!

Poor Amber looks ready for bed!

This is so dear to me, Amber and Charlie meeting for the first time!

I can't believe how much he's already changed.

So if you think I'm pretty bad at keeping up with blogging I'm even worse at keeping up with my YouTube channel. It really is a crime! I've been hording tons of cute videos of Amber, some of them are almost a year old. I finally sat down the other day with Amber's "help" and uploaded a bunch of videos. Some of them are not the greatest quality, you have to be sneaky to get what you want from her. Some of them I haven't even bothered to re-watch so hopefully what I think is on here are the right ones! 

For Amber's 2nd Birthday we took her to the Franklin Park Zoo. 

They have the coolest exhibit there where you can buy a seed stick and feed the Budgies! 

They come right up to you and will even perch on the stick!

Amber loved it!

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!