An update on Cindy Lou Who

Tomorrow morning we go into Phoenix Children's Hospital for Izzy to have minor surgery on her eyes.  The ophthalmologist is concerned that her crossed eyes are keeping her from seeing clearly, as well as making it harder for her to figure out depth perception.  All of this may be making her fine motor skills harder for her to figure out.  Also, there is a problem with her tear ducts.  So, they are going to go in and fix those problems and we should be home by mid-day.  Whew.  Still makes me nervous however. 

I took Isabelle to see the developmental pediatrician this week.  It was a hard visit.  It's only been a little more than a month since Isabelle was diagnosed and we're still trying to digest the information, to take it all in.  I go back and forth from feeling calm and knowing Heavenly Father has a plan for my beautiful baby girl and panicking as I worry about what her future will be like - will kids in make fun of her?  Will she be lonely?  What will happen when Isaac and I die?  Who will take care of her?  Will she be able to care for herself?  Will she be happy?  The questions are endless and there are no answers.  At least, not now.  So instead I'm trying (not too successfully, but I'm trying) to just see what I have right now.  And right now, what I have is a baby girl who is the greatest blessing in our home.  You could not ask for a happier, more loving, content baby.  People in our ward are always commenting on how happy and smiley our baby is.  She couldn't be happier and we couldn't love her more. 

I'll write more about what the developmental pediatrician said later.  I'm not up for it tonight.  I also want to post some great pictures from our trip to Oregon,  and write about Eli, because I promise he is still here!  It's easy for us to get caught up in worrying about Isabelle, taking her to her appointments, running all over trying to get her into programs, make things happen for her.  Sometimes it's too easy for Eli to get overlooked (although he does everything he can to make sure that doesn't happen!) in the stress and shuffle of it all.  Just one more that I worry about.  Man, I've got to stop worrying!

Thanks to everyone for all the emails, calls and prayers.  I appreciate it more then you'll ever know.  It is so easy to feel alone amidst all that is going on, or to feel so overwhelmed and discouraged.  I've gotten so many lifts from the phone calls and the emails and the support.  Thank you.

Family birthday party for all the Feb./Jan. birthdays - My mom, dad, cousin Nick, Izzy and my grandma!

Isabelle in her cute birthday outfit from Aunt Dodi.

More 1 year old pictures

I think she looks like Cindy Lou Who in these pictures!

Our Beautiful Baby

Here are some pictures from Isabelle right after her birthday.  

Our good news is that she finally got accepted into Arizona's Long Term Health Care Cost Containment Program - whew, that's a name and a half.  Anyway, the benefits to being in this program are amazing.  So many new places she can now go to receive medical care, that our insurance wouldn't cover before.  It also means that she can start receiving therapy in the home.  Since she gets therapy 5 times a week, it is so nice to have the therapists come to us.  It works as a secondary insurance for co-pays as well as offers respite services who will come and watch Isabelle, so that I can run errands, take Eli somewhere or just get a break. There are more things that it will offer as well as she gets older.  

Getting into the program is a huge blessing, and we are so happy about it.  

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!".