Wednesday, August 18, 2010

Welcome Home

The house once again feels like Grand Central Station with people coming and going! My brother recently returned from a 7 month training deployment and gave us a whirlwind of a visit. He flew in late Friday night and left early Saturday morning. We were able to visit a little bit but it definitely wasn't enough time! Hopefully we'll see him again soon.

Today my Dad flew in for a 15 day leave!

It's so great to see him again, it's also been 7 months! Amber was so happy to see him again. She gave him big smiles and coos! This visit won't be all fun and games Amber does have a few appointments that we'll still have to bring her to but hopefully we'll be able to make a fun day of it! 

I'm predicting fun posts to come!!

Sunday, August 15, 2010

Adventure Update 3 Early Intervention

 Early Intervention! What’s going on? Not much. Amber’s range of motion is getting so much better. She’s lifting her legs more and higher. She can’t quite grab her toes but it’s still a big improvement. She’s lifting her arms higher too. She can almost pull her bows out now. Her neck muscles are getting stronger. She does much better at stabilizing her head when she’s held. Her trunk is slowly, slowly, slowly coming along. She still becomes a puddle in her bouncy seat and car seat but it takes longer. She doesn’t slump as much and she can pull herself back up straight a few times before getting too tired. We’re working on supported sitting in a bean bag chair right now and it’s going pretty good!

 In case you were wondering her bean bag chair has a hedgehog face on it and little feet

She's also getting to be a champ at holding her own bottle!

Saturday, August 14, 2010

Adventure Update 2 Appointments

On Tuesday (the 10th) we went into Boston for a C.C.S. follow up and an appointment with a new orthopedic surgeon. It was a long trip for not a lot of information.

C.C.S went really well again. Amber weighed in at 11lbs 13oz and measured 24inches!!! This was nice weight gain that we weren’t expecting since we reduced the time she’s on her feeding pump and since she’s not taking her total required oral feeds. Don’t even get me started the length! It seems like a miracle. I think it’s been almost 5 months since she grew and never a whole inch at once! We went over all of Amber’s problem areas and since there was nothing new there wasn’t anything to discuss. They told us we still have referrals/requests in for the new specialists and test for the fall but no dates yet. They did have some test results though. Her vitamin D is up a little bit, this is great news! Her blood gas is getting better, meaning oxygen weaning is going to happen soon and will be easier! They also had our sleep study results. Apparently the only good thing they did was get the results in fast. The study showed (big surprise!) she still needs oxygen but, other than that they didn’t find anything. It concerns me a little bit because she really didn’t have a normal/usual night so I really hope they didn’t miss something. C.C.S. did call me today to tell me that they spoke to Amber’s pulmonary specialist who said that we could turn Amber down to 1/4th liter of oxygen during the day but to keep her at the ½ at night.

Our other appointment was with a new orthopedic surgeon. They had communication issues so we didn’t really get great information from them. They did x-rays of Amber’s hips that showed both her leg bones are finally in the sockets right. The only other comment on her hips was that “they’re definitely funny shaped” but nothing about if it would be a problem, the two leg lengths or about the ossification issue. He wrote her a prescription for new hand splints and thankfully we can go back to the lady who did her first ones! He told us her back is fine (there were previous discussions of scoliosis) and her chest shaped is caused by deformed ribs (duh) and not a problem with how they’re attach to her spine. He looked at her chest, previous chest x-rays and pictures of it before she got the nice layer of chub and actually discussed fixing it! It would probably be with spacer type things so she needs to be bigger before she can have it done but on the other hand they don’t want to wait too long in case she gets sick or has more breathing problems. He’ll be able to tell us more once he’s talked to Amber’s pulmonary specialist and his colleague who deals with Jeune babies/lateral chest expansion surgeries (who we’ve actually seen off the records in a genetics appointment and love!).

She's such a goof! She loves to wear these glasses!

Friday, August 13, 2010

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.
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)

Thursday, August 12, 2010

We Took A Little Trip

Hello all! It’s been rather crazy here lately and I just haven’t had time to sit down and blog about it. Rather than overwhelm you, like I have a tendency of doing, I’m getting it all written down tonight and I’ll post it over the next couple of days.
We actually went on a little trip! All three of us! We left last Friday afternoon and we came back late Sunday night. It was way to short but so nice to see all of our PA family! 

This was Amber’s first trip on oxygen and her first on the g-tube as well.  Even though it wasn’t a long trip it was really stressful getting everything together to go. I’m ashamed to think that I used to stress out about packing enough diapers, outfits, ect… for her.  Things that I could have picked up at the local store or just wash. Running out of oxygen…not an easy fix! Thankfully we had more than enough oxygen for our trip. We called almost a month in advanced and had a big tank and a few little ones delivered to my in-laws house and we brought 4 of our own little ones.  We didn’t have any problems with her g-tube either! I’m finally getting really good at setting up the pump and getting it set up for running in the car. I actually did it all on the side of the road going down! Medically everything went smoother than I expected! The only bummer was Amber seemed a little under the weather but she still had plenty of smiles, giggles and stories to tell everyone. 

Our trip itself was way too short.  We had so much fun catching up and hanging out with family and friends all day on Saturday.  Saturday night we went to a beautiful wedding for my husband’s cousin (I wish I had taken pictures!).  It was so nice seeing extended family who we haven’t seen since November! Sunday we slept in late and then had more family and friends over for catching up/a joint Birthday party for my mother in-law and I.  I don’t think we could have asked for a better trip but that’s to be expected when you have such great family (I really lucked out!!). 

Amber of course was hardly spoiled the whole time ;)