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.

Throw Back Thursday

Did you know that on this day last year was Amber's last ultrasound. They did this ultrasound because my bump wasn't measuring the right size. This is when we found out she had stopped growing at some point and was developmentally a 34 week old baby instead of a 37 weeker. We had a faint idea (maybe a little before then) that something wasn't right with Amber. She never was a big kicker. By the way these pictures are from Amber's 20 week ultrasound when they made sure her anatomy was all right. During that ultrasound Amber never once opened her left hand, the one she never opened until she got splints at five months.

Her profile at 20 weeks and at birth. Pretty cool!

I'm at terms with everything that's going on with Amber. I'm sad with the obvious; her daily struggles and the uncertainty of her future but I'm not dwelling on these things. I'm not happy that no one ever mentioned the possibility of Amber having any issues. Even when they told me she wasn't growing properly they never hinted that it could be an actual problem. Based on the pediatricians reactions I find it hard to believe the tech did not see anything else that was not quite right about her at her last ultrasound, which was only two days before she was born. This only upsets me because I would have liked to have been able to prepare and maybe Amber would have had help/treatment sooner or we would be closer to finding things out.

Enough on that! I didn't mean to sound like a Debbie Downer! 

I am thanking God every day for her and thanking Him for everyday He gives us with her.

She really is a miracle; how far she's come and how well she's doing. I can't even begin to tell you how amazed every Dr is with her. Not only because she is so unique but the fact that she should have had a much harder year. 

At 6 weeks they found out she had extremely brittle bones. Shockingly she has never had one single broken bone. It is also very hard to get vitamin D levels up and hers shot up only a month after she started treatment for it. 

 Amber may not be as far along muscle tone wise as we were hoping she would be at this point. She has made leaps and bound though since her early days. Her head control is much better and she is really trying hard to lift her head when she is on her tummy. Even though she can't touch her toes she can really lift her legs now. The range of motion in her arms is so much better, we're almost there! Gone are my worries of whether or not she would ever be able to brush her hair! We are really starting to feel muscle working hard in her trunk these days and hoping that the chest expansion surgery will give her the boost she needs to start sitting on her own.

 It really is amazing how much she has grown and changed over the year.

Amber hands have responded so well to splints. She can now open both hands completely and has only a slight bend to her middle and ring finger on her left hand. She can hold toys and grab things like a champ all without the tendon release surgery they thought she was going to need.

Generally children with her shaped chest constantly have sever upper respiratory infections, spend months in hospitals and usually end up having a trach. Amber's first upper respiratory infection happened when she was 8 months old and now only requires very little oxygen assistance. 

Her eye sight is poor, her speech is delayed. She's still kind of skinny but gaining good weight. 

Her sleep skills are horrible they drive me insane. I think I was going somewhere with this but my brain crashed. Anyways I wouldn't change anything about her, she is so much fun and the greatest joy in my life!

I would like to thank all of you for all of your prayers and support for Amber this past year. A lot of you have been praying for her from the very, very, very beginning and we greatly appreciate it. There is no doubt in my mind she is doing so well today because of all of your prayers. 

Edit: This was supposed to be posted before midnight but it's been a rough night. Amber's unlucky day is September 15th, that's the day I'm talking about in the first section. 

A Rather Poopy Day ~ The Epic Update You've All Been Waiting For

Well I really thought the other way of updating was going to work. We've had so many appointments the information is starting to snowball so I'm going to give it to you all at once. 

A little more on feeding, this picture really fits it! Amber is not tolerating any of her feedings. Meaning she is throwing up a lot on oral and tube feedings. This week she lost a pound so in a way she's lost two because she had been gaining a pound a week. (she loves "driving" the tractor!)

Last week we had an eye appointment. It was supposed to be a quick follow up to the one she had in February. At the last appointment they said she was really farsighted, but most babies are. We all thought since she did so much growing everything would be all set at and normal at the follow up. Not the case, she's now extremely farsighted and will be getting glasses. Very cute clear/purple ones! They also noticed that the whites of her eyes are now cloudy. I can't quite remember what it's called Cornea something with a d, she has diffusion in the middle layer of her cornea called the stroma, don't worry I don't even know what it means except that is what's causing the clouding. Depending on how bad it progresses we're looking at loss of sight over time and extreme sensitivity to the slightest bit of light. This new finding fits with exactly with the new information below.

Another geneticist! Yup Cedar-Sinai told us they don't think it's Jeune syndrome anymore but most likely a metabolic disorder and some other type of genetic disorder or syndrome. So now we're seeing a metabolic geneticist on top of our other geneticists. We meet with them yesterday and absolutely love them! They are pretty positive Amber has a metabolic disorder. What they're looking into has a very broad spectrum of severity but no matter what level of it she has it is progressively destructive. In our cells we have things called lysosomes that act like the liver for our cells breaking things down and using them ect. In Amber her lysosomes don't work right so things get stored all over her body and cause build up of tissues or bone deformities. This explains some of her unusual anatomy but not all of it so thats why they're thinking its more than just a metabolic issue. Needless to say Amber had a lot of blood work done yesterday. As much as I would like to have some sort of diagnosis for her this really wasn't the type we were expecting. If it is this it will mean that things will always be hard for Amber and unfortunately things will only get worse not better. What we are hoping is that the test will come back negative or at least say that she has a treatable type. I really don't like wiki but here is a good description of pretty much everything I'm trying to tell you. This one is more the family they're looking into. 

Since I'm on a roll I'll give you more not wonderful news. Amber finally had another echo done and it showed that her mitral leak is still sever and the left side of her heart is still enlarged. This means that she will be getting a heart MRI sometime soon. Depending on what the MRI shows, in terms of how much is actually leaking, Amber will have her mitral valve repaired or worst case scenario replaced. By the way we are also finally switching to a cardiologist in Boston.
I'm not sure if you all remember this post about our visit with the new orthopedic surgeon. Well after our last appointment with pulmonary they've decided to push having her chest repaired sooner than later. She will be having a pulmonary infant function test soon to determine how well she actually breaths and then they will set up a surgery date from there.
It looks like both the chest and heart surgery will be done this fall probably at the same time. It's not great to think about but since Amber did so well with her last set of surgeries they have high hopes that she will do well with these.
Amber will also be getting a brain MRI at the same time as her heart one to check out some weird lumps and bumps on her head. She will probably also end up getting a cat scan on her head as well but we're not sure if that will happen before or after her neurology appointment. At this point due to the lumps and bumps everyone is worried that sutures in her skull are starting to fuse, the fact that other parts of her are ossifying doesn't make anyone feel any better about it. The scary part is if her head is fusing that will stunt the growth of her brain, apparently this is not very uncommon with the disorder.

Lately it seems like every appointment we go to we get worse and worse news. It all really sucks but we're continuing to pray for the peace that God had given us since the first news that something might be wrong with Amber. We take one day at a time.

I hope you enjoyed the pictures! They're teasers to some much more positive posts I'll be getting out soon!

Adventure Update 1 Testing

It’s been a while since I’ve updated about where we are in finding a diagnosis for Amber. We haven’t been in to see her geneticist since May. It was actually the week before she was admitted for respiratory problems.  Amber’s geneticists did come to visit us when we were in for her hernia repair but at that point had no new news for us. In case you don’t remember, because it feels like it was a long time ago. The last time we saw her (the geneticist) she had sent Amber’s x-rays out to Cedar-Sinai in CA to have them compare Amber’s x-rays to all of theirs in their big skeletal dysplasia bank.  She also did some blood work on Amber to check for Jeune Syndrome and UPD 14. I was waiting for more information before I talked about it but I haven’t had any so to make things slightly easier I’ll let you know this much now. Here is an e-mail I received from her almost a month ago (I added everything in black):

Dear Mr. and Mrs. Amick, (still so weird to see that!)

I wanted to let you know that I heard back from the Skeletal Dysplasia Registry at Cedars-Sinai Medical Center.  They let me know that based upon the information they received that Amber’s case needs more extensive review before a diagnosis can be made.  They hope to be able to finalize the case in the next few weeks.  I will be sure to let you know as soon as I have heard back from them. (I hate waiting!!)

As you may recall, we sent out genetic testing to look for genetic causes of Jeune syndrome and this testing was normal (IFT80 and DYNC2H1 gene sequencing).  As only 20% of cases of Jeune syndrome are caused by mutations in these genes, the normal results do not yet allow us to rule out this diagnosis. (Not exactly what I was expecting to hear but doesn’t send us back to square one)

We also did a test called Uniparental Disomy 14 (when both copies of chromosome 14 have been inherited from one parent) and these results were also normal. (Exactly what I expected to hear!)

I will be back in touch once I have heard back from Cedars Sinai but please let me know if you have any questions before then. (yes, please tell them to hurry their butts up!)

I hope you and Amber are doing well and she is doing well with her g tube feeds.

Sincerely,

Dr. Lady

I would really be surprised if they came back saying it was not a form of Jeune Syndrome because so far she fits this one the best.  I’m praying for patience and trying not to go crazy waiting to hear from them. We had an appointment with a new orthopedic surgeon who told us that only recently are they realizing these syndromes have genetic markers to them, before they were solely diagnosed based on appearances.  I guess that’s why only 20% of them have the positive blood work.  Hopefully we’ll have more information soon or maybe even a diagnosis (I won’t hold my breath). 

This is also a month old. (the picture not princess chubby cheeks)

We're Still Alive!

Although we feel like death.

We had a very busy week and now we have a touch of the flu. Poor baby I think she started to come down with it Friday. Towards the end of Friday she started to get very fussy and not wanting to eat, Saturday was worse. On Sunday she felt really hot when we came home from church, she had a fever of 101.8. She seemed to have more labored breathing than usually so we were sent to the ER at UMass. It was just for safety sake and after a urinalysis, blood work, x-rays and hours checking her pulse ox she's alright, just a cold. The night was bad, Monday her fever was still high, she cried non stop all day and had diarrhea twice. Monday night was better she slept with us. Tuesday she slept most day her fever was better but she had diarrhea four times. Today is alright, no fever but she's back to being fussy and very congested. She's been sleeping on and off but she threw up once and she's had diarrhea three times in the two hours she's been up. It's very unnerving since has very labored breathing normally and since she's not wanting to eat now. Its comforting to know that everything turned out alright on Sunday but I think we'll be talking to her Dr again today. The good thing is she's getting a lot of sleep so I've been able to finally get caught up on mine. It was also nice to see how the UMass ER works. I will feel very comfortable going there again if for some reason we have a real emergency. They're waiting area is like a hotel lobby and they have a whole separate, very attentive section just for kids.

Nothing is better when you're sick than getting a package from Grammy!

She is such a sweetheart even though she felt so awful she still tried to be her normal happy self.

She was very interested in her package.

And she loves the new binkies!

She had a brief moment of feeling better so she played with them.

What We've Been Up To;

We've been working at mastering a sippy cup! She's doing better at it but still prefers to be feed by someone else. (she's not sick in this picture by the way)

She's also finally become un-constipated. I won't show you that picture, the poor thing! We saw her Dr on Thursday about her weight and constipation. He's not too concerned about her weight but he does want us to see the surgeon again and this time talk to his nutritionist too. He's put her on a daily stool softener that will be mixed in with a formula bottle. So far she hasn't been too happy about the formula. She hasn't had either of them wile she's been sick. The stool softener for obvious reasons and the formula because she's refusing it and all other solids. Hopefully (once she's better) the two of them will help her become more regulated and help her gain some more weight.

4th Times A Charm!

She's finally finally finally passed her car seat challenge!! The 1st time in the new car seat she screamed for the whole hour! Her pulse ox numbers were in the low 90's and her breathing rate was between 14-20. The 2nd time she slept for the last 15 min and her numbers were in the mid 90's and between 40-50. (b.t.w. they fail if the numbers go below 90) Ironically most babies numbers are worse when they are asleep.

Here she is in her new car seat!! We're still not completely sold on how good of a thing this is for her. She still seems to be having a lot of difficulty breathing in it and she screams if you go over any bump. She has odd shaped vertebrae so we're not sure if she's in pain when we go over bumps. Even though she's really padded in there she still jiggles around a lot and with her low muscle tone she has a lot of difficulty keeping her self upright and secure. I think we would feel a lot more comfortable if she were in something different but there is nothing on the market that really works for her. I've been looking into adaptive equipment so hopefully it will just be a case of adding more padding and support than having to get another new car seat.

Trot Trot To Boston

On Friday we went into Boston to see our geneticist there. So far all of the testing they've done has come back normal. So normal metabolism, no marfan and not the syndrome similar to marfan. We had a orthopedic specialist look at her who has treated Juene syndrome before. He doesn't think it's Juene's at least not a sever form of it. Right now her DNA and x-rays are out in California at a place that deals with the most Juene cases. They'll be able to do some testing and tell us if it's a form of Juene's or not. The newest thing they are looking at is some thing that abbreviates to UPD14. For some genes you need a copy from each parent. Sometimes something goes wrong and you get two copies from one parent and none from the other. In Amber's case she fits the description for getting two copies from her dad. So on Friday the hubs and I got out blood tested to see if this is what she has. I'm being vague about this one because it usually has mental retardation along with it and Amber is the exact opposite, this is why the Dr isn't convinced it's what she's has. Basically it's more wait and see. In the mean time she is trying to get us in to see pulmonary and endocrinologist specialists at Children's.

The biggest news we got was that they were both very surprised she hadn't broken any bones or been really sick. As we're finding out her being sick isn't like other babies. She doesn't have the reserve to fight things off, she can't expand her lungs like us to cough or clear mucus. It's very hard to watch her choke and sputter and not be able to do anything about it.

I've got to get back to taking care of this sick baby. Hopefully our life will go back to our normal sometime soon!

A quick update

Yes she is getting tubby!

Sorry to keep you all in the dark but Amber has not been sleeping lately and I haven't had the brain power to share any updates!

Our surgery consult went really well. The surgeon sees more diaphragmatic hernias in a day than most people see in a year, so he really knows his stuff. He told us there are two types and she has the less severe type. Amber's is coming up right under her breast bone (sternum) and going over the heart. It sounds horrible but he said the heart unlike the lungs is a strong organ that doesn't mind having the bowels in front of it. The best news from the visit is that Amber (at least for now) will not have to have surgery. He would like to wait and find out what is going on with her genetically because he is not convinced that fixing her hernia will fix her weight/growth problem. I'm completely fine with this, I'd rather her not have the surgery if she doesn't really need it. When we were in the waiting room there was a 7 month old boy the same size as Amber (he was a little shorter than her) but it was so nice to see another baby like her!

We also saw another geneticist Friday, at Children's. Yes she makes number 3! She and a specialist looked at Amber. They were really convinced she had a syndrome similar to Beals and Marfan but she is still not a fit for this one either. They were just as confused with her as everyone else has been. They took a whole bunch of blood to test for some more things but we won't hear any results for at least 6 weeks. We'll be seeing them again but we're not sure when. We still haven't heard any results from her skeletal scan, we probably won't until the 1st of April. It could either give us a positive or rule out Juene Syndrome and possibly some other things.

Today was Amber's 6 month appointment. It went pretty well she is 8lbs 10oz and 23 inches!! She is getting soo big! She officially does not fit her car bed anymore, this is great but she has a hard time breathing in her upright car seat. The Dr is trying to get us in to have her take the car seat challenge again. It's really uncharted territory, usually when a preemie who needs a car bed reaches the time they would have been born they are transitioned into an upright car seat and they do not need to take another car seat challenge. It will be really weird to have her in with newborns. Our other exciting news is we're supposed to start her on veggies! I'm not sure how I feel about it. If it helps her sleeping that would be great but if its going to make her choking worse I'm not excited about it.

I'm really sorry if this doesn't make sense Amber has been hardly sleeping. She will do 1 1/2 hour to 2 hour stretches at the most but she's getting up at 1am and not going back to sleep till 6 or later and not napping. The two of us were able to nap for almost 4 hours today but she got three vaccines so she probably won't sleep through the night. The poor thing you can't even brush her leg without her screaming.

We'll I'm off to bed praying Amber sleeps tonight, our warm weather comes back and we can get back to walking!

Did She Just Do That?

This has been quite an eventful week and I'll admit I'm exhausted!

The most exciting news is that Amber is now starting to wave, clap and laugh! She does it in her own way so its easy to miss but she's really doing them!! Of course like any other baby she won't always do it when you want her too so I have yet to capture it on video to share with you all!!

Bear with me here I have a ton of information and events to tell you about. I should start doing updates more than just once a week when I have crazy weeks like this!

Monday ~ My mom left to go visit my dad. We headed to an appointment for me. Amber decided to show off and waved at my Dr! What a nice relaxing day :)

Tuesday ~ We headed to Amber's genetic appointment. It went really well! We had some very nice discussions with the geneticist and found out some interesting things. The results of her general metabolic and general genetic test came back. They are both normal! Its good but it makes things more complicated for her Dr's. The geneticist is now toying with the idea that it might be Juene Syndrome It seems like it would be a good explanation of Amber's chest shape, slight breathing problems and issues gaining weight. However its not a perfect fit. She has very long fingers, contracted fingers, osteopenia and pretty normal length arms and legs. Anyways our geneticist is sending us to her friend as Mass General for a second opinion.

Wednesday ~ The early intervention lady and developmental nurse came to visit Amber. It was a great session!! Amber was in the mood for showing off; talking, waving, clapping, imitating the works! By the way at her age she shouldn't really be imitating so they were very impressed! When they visit they do a mini neuro exam and she scored above average! For a fun experiment they want us to teach her some simple signs. As of right now she just thinks its really funny but won't do them. Her daddy did teach her the fist bump (in one day!) so maybe the signing will be his job.

Thursday ~ We had our first pulmonary appointment. This wasn't supposed to be until later in the month. We were really happy that they were able to see us sooner. Recently she has been choking a lot during and not during feeding, she also has episodes at night where she does her in pain cry randomly the developmental nurse and us think its possibly reflux, her soft pallet causing an obstruction or apnea. The pulmonologist right now wants to figure out why her chest is that shape. He said one reason could be Juene syndrome or something like that or because of her soft bone issue the diaphragm muscle could be pulling her chest walls in. It sounds bad but her pulse/oxygen levels at rest are ok and her pulse/oxygen levels during feeding go down lower than they should but its not low enough to cause any intervention or major concern at this point. He did order another full body x-ray and upright chest x-ray. I guess vitamin d makes the bones look different so they could have missed something last time and it will give them a better idea if her chest shape has actually become worse. Our geneticist check in on us while we were waiting and it sounds like she might go ahead and order a sleep and swallow study. The pulmonologist seems great but I'm not thrilled about his wait and see attitude. So after that loong afternoon at the dr's we came home to a dead water pump :( ugh so we packed up and slept at my grandparents for the night.

Friday ~ We were supposed to go to the endocrinologist but had to cancel to deal with the pump. Unfortunately we won't see him again until June, we're praying they can give us a cancellation like our pulmonary appointment. I made amber's mass gen. appointment! It wasn't supposed to be until July 2nd (!) but (thanks to her being famous and loved by all the geneticists in our region) we were moved up to March 19th!!!!!! Oh and my mom found a happy apple in with some old toys!!

Well that's our crazy week! I think this sums up how we all feel

yup she feel asleep while I was feeding her

(we finally got her a real highchair! it seems to work really well)

I think this runs in the family

He's such a cutie :)

Have a good weekend its supposed to be nice and warm here yaay!!!

The Heart of It

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

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

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

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

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

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

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

Remember This Guy?

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

What Else is Going On?

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

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

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

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

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

What a big baby!

Amber is now 7lbs and 13oz!! Its crazy to think that at 4 months she's the size of a newborn! She's is 22 inches now too (I think she's about the same size her daddy was when he was born!)

She is making so much progress physically with Early Intervention and is becoming such a chatterbox too!

At our appointment on Thursday we were told that the geneticist is pretty certain that she has Beals Syndrome. So this Wednesday we are seeing the cardiologist and we're making an appointment to see an eye Dr. This makes a total of 6 Drs we are seeing for her! We'll see how our appointments go the beginning of Feb. but I really think we'll be going to Children's for a second opinion (I just really don't feel like its Beals).

We've started cereal! The only problem we've had is she likes to talk to us while she eats it and then ends up choking. But other than that she seems to like it. I have some videos of her eating it but I can't seem to get them up.

My mom comes home on Tuesday and I can't wait to have her back. We've survived but it gets lonely here without her. Amber's also gone back to sleeping through the night and napping!! I'll try to post some videos and pictures later but its time to feed the little monster again!!