Archives for February 2009

We got a copy of the report that Dr. S., the world-reknown Gaucher’s specialist, sent to our genetics doctor.  He was very thorough — 2-1/2 pages!

Here are some general abnormal exam findings:

• There was no clear facial dysmorphism that is seen in typical type 2 and some type 3 patients.
• Liver was enlarged at 7 cm below costal margin and spleen’s tip was in the pelvic region 11 cm below left costal margin.
• Eyes seemed normally aligned although epicanthal folds are large.
• She now has supranuclear gaze palsy.
• She alerted to noise but did not turn head towards the noise.
• She does not yet have a pincer grasp.

Impression:
Hannah has neuronopathic Gaucher disease based on saccadic eye movements paresis…It is not possible to determine the prognosis at this stage.  It is possible that she may turn out to be a so-called mild type 2 Gaucher patient, but it is generally too early to tell.  The early systemic presentation and the saccadic paresis that is also vertical suggest a more severe form of neuropathic Gaucher disease, but it is best just to describe the abnormalities seen at this stage.  A form of chornic neuronopathic (type 3) Gaucher disease cannot be excluded at this point. 

Hannah is even a mystery to him…

I was chatting with my neighbor after we got back from the hospital, and she is going to help me put together a fundraising walk to raise money for the Children’s Gaucher’s Research Fund and to get our MOUSE!  I was so touched and grateful!!  We are going to meet next Thursday night (3/5) to brainstorm ideas, and I’m going to invite a few other moms over to see if they can help us come up with a game plan as well, because I know that as much as I would probably try to do it on my own, I just can’t do it.

We were thinking about a walk, a kid’s walk, and perhaps a silent auction and/or raffle, and obtaining local sponsors and donations.  Such an overwhelming concept, but if I can get some others to help me, this is actually doable!!

It only took two attempts at an IV this time, thank goodness!  As soon as we got to the infusion center, the nurse handed me a bag with IV, flushes, tape, etc., and tells me to go straight upstairs and have Jenyce do it.  She is the awesome nurse that was able to get it quick and easy last time.  I’m grateful!  Even though it took two attempts, Jenyce really is a pro!

It was a noneventful treatment, and for that, I am so thankful!!  No complications, no surprises, just a normal infusion.  Hannah slept for almost 3-1/2 hours straight (except for about 30 minutes when it was over), but now she is wide awake at home and playing in her exersaucer.  I wonder if she even remembers it!

Phew…two down.

Two weeks flew by — I feel like so much has happened since Hannah’s first Cerezyme enzyme replacement therapy infusion.   I hope the nurses can get the IV in on the first attempt this time!!    I’ll update when we get back.

I’m not as nervous this time, but I am still anxious.  It is still such a new procedure for us.  I know it will become a “way of life” soon, but I’m not there yet.

I finished the script for Hannah’s video last night. It was very depressing trying to write a script that would share her story, what she has been through, and if we can’t find a treatment, what she has in store for her. I was very depressed when it was over.

Since I need to have the video done by February 28th, World Rare Disease Day, I started working on it today. I’ve made it about 20% of the way through before I started tearing up. And I’m not even at the “real” part of the video yet, just the introduction. I have to keep playing the pictures over and over again with the text, and it is almost like each time I have to view it to edit it, I am getting stabbed in the heart.

Heck, I’m blogging right now because I need a break from it. Right now, Hannah is sitting with Daddy on the living room floor (on the blanket), and Daddy, Big Boy E, and Little Girl A are attempting to play the game of Sorry. I say attempted because Little Girl A has no idea how to play, and it just really isn’t working out. Nothing like a little family chaos to bring me back to a place where I feel a bit better…