Wednesday, May 19, 2010

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!


  1. Oh Schuyler, thank you so much for taking the time to post this update. It is so good to see pictures of Amber, although I can see that she is pale and can tell she does not feel well. I am glad she liked her package...a girl can never have too many binkies! or maybe I should say a momma can never have too many binkies when her baby is very attached to them!
    I appreciate the car seat pic..and I pray that it will work out for her. will be a long while til she will be able to travel to Pa to see us!! Maybe she was just so touchy in it because she was on the verge of being sick. I hope that she will be comfy in it and especially safe.
    Thank you for the info concerning appointments. It always helps me comprehend your Dr visits when I can read the things you write here. I am sure I will be revisiting this page many times to see Ambers sweet face and to reread what you have written.
    I miss you all so much, and wish that I could be there to lend a hand when needed. I am very thankful that you are there with your mom, and I appreciate all her care for you and Luke and Amber.
    Love you all..thank you Skye, and I pray Amber will be well soon.

  2. Hi MommaSkye ... so sorry to hear Amber's been feeling so yucky. Thanks much for the update. Helps me know how to pray more specifically for you guys. You are one amazing momma! Really! I admire you so very much.

  3. It certainly has not been fun lately but you amaze me at how well you care for her. I could never use the blue sucker to help her when she is choking and clogged up with mucous. I am grateful you can.

    She is so alert and aware now. We have some pictures and videos to burn and send to her far away Gramma and Grandpas!! It was so cute to see her with her package from her Pennsylvania Gramma. As sick as she was, she was still so interested. What timing that it arrived when she was sick!!

    Praying she will get over this soon!