Izzy is 1!

Today is Isabelle's first birthday.  I can't believe my baby girl is 1.  What a crazy year this has been.  Definitely not what we expected when we went into the hospital a year ago.  But Isabelle has been such a blessing in our home.  How did we ever live without that sweet little girl? We had a party for her this weekend and here are some pictures.  My friend Margaret made this cute outfit and hat for her (yes, it's true, now that I have a girl, I can't get enough pink).  And my friend Becca made her this cute cake, which she picked at and tried to eat a little.  She still is working at getting to eat more solid foods.  She started feeding therapy last week, after being on wait lists for a few months and is doing really well.

 We tried for a family pictures, but Eli was not willing to stop playing to join us for a picture.

 The only picture we could get of Eli.

Update on Isabelle

Last week we took Isabelle to the geneticists at Phoenix Children's Hospital.  The doctor was hoping we would find a link tying together all the different things that have been happening with Isabelle.  After studying everything he felt 100% certain that she has Kabuki Syndrome.  It is a rare genetic disorder that only 1 in 32,000 children have and has only been discovered in the last 20 years, so it is considered fairly new. 

Heart defects, seizures, hypotonia, feeding difficulties, certain facial features that Isabelle has, gross motor delays - all these things that have been happening with Isabelle are a result of Kabuki.  Our worries are other problems that children with Kabuki have and that could occur with Isabelle - children with Kabuki are prone to infections, kidney problems, hearing loss, bladder problems, growth problems, and other problems.  What scares us the most is that 90% of children with Kabuki have mild to moderate learning and intellectual disabilities.  The doctor said it's too early to know what Isabelle will be facing, other than the difficulties she has already had, but he said we should prepare ourselves for the possibility that she will have learning problems and may never be at a stage where she can live and function independently.  We don't know yet, but he said we need to prepare ourselves for what could possibly happen. 

We only found all of this out this week, but we've spent much of the week in tears.  There are so many frightening possibilities and we weren't prepared for this at all.  It isn't a genetic disorder that Isaac or I carry the genes for and if we have more children our chances are still the 1 in 32,000 that the child will have Kabuki.  However, since Isabelle has it, if she has children, they have a 50% chance of carrying the disease. 

Right now we're just asking for everyone's prayers.  We will be continually be praying that Isabelle will have a mild form of Kabuki and that it will not affect her learning abilities and that she will be able to live a full life, without this disease holding her back.  Please pray with us for her and for us, that we will be able to deal with this and accept whatever may come as a result.  

Christmas Week

Here are some pictures from Christmas week.  Eli has been very cuddly with Isabelle lately - not necessarily soft, but cuddly.  She's getting used to loving choke holds and being used as part  of an obstacle course for him to jump over.  We're not so accepting about it and are trying to teach him to be soft and not use his sister as an obstacle in an obstacle course.

 Christmas Jammies from Nanny.  Mom always gets Christmas jammies for the kids and takes pictures in front of the Christmas tree.  

 Eli's cousin got this toy for Christmas and she was good about sharing with him. Surprisingly, he was a pretty good driver.

 Eli got a bike for Christmas and has been a maniac, riding all over the place.  Unfortunately for us, we live in an apt. complex and he sees the teenage kids doing lots of tricks on their bikes and has been trying to replicate them.  I usually end up chasing behind with Izzy in the stroller, yelling "no Eli, no!".