Monday 3 December 2012

Dec. 3/12

So, we have gotten home from our Disneyland. The kids all had a wonderful time and best of all, there were no medical emergencies!  I spent most of the bus ride from Anaheim to LA just thanking God for taking care of us on our trip.

Before we left we found out Katha's medication is in.   We got a phone call on the Friday before we left asking us for all of our insurance information.  The pharmacist let us know that just this batch we're getting is worth $20,000.  I haven't heard back from them.  So, I'm guessing that the payment when through.  She told us if there was a problem she would call back.

Katha had such a great time in Disneyland.  Amory and I started calling her "perma-grin" because she just wouldn't stop smiling, which made all of us happy.

We didn't send Dom or Katha to school today.  Dom got a cold while we were there because it rained on Friday.  He's, of course, milking it for all he can.

I think it kind of shocked Mom and Dad to see Katha having to deal with her illness on an everyday level.  Simple things that she could do a few months ago she can no longer do. 

The wheelchair was a life-saver.  There was no way Katha would have lasted more than a couple hours if we didn't have it.  But, if we weren't going to be walking to much (down to a restaurant or something) we would make her walk.  Plus, she hasn't touched it since we've gotten home.

We did a journal of the whole trip and I saved whatever I could so the kids could make a scrapbook out of it.  I hope this will remind all of them of the trip for years to come.

Before we left we went to Bashaw to see Beauty and The Beast.  My cousins Connie and Kristy both had their kids in it.

They heard we were coming and about Katha being sick and really went above and beyond.  She not only got a front row seat but they gave her a pillow, a Christmas ornament, programs, a picture book, a bow, a rose, and a t-shirt.  She was in seventh heaven.  In fact, when we met Belle at our character breakfast she told her that she liked the other Belle better.  Luckily, the Disney Belle didn't exactly understand her, lol.

I posted a lot of pictures on my facebook of everything.  I still haven't gone through all of Amory's pictures, and he took a lot more than I did.

Auntie Donna and Jenna met us at the airport when we got back.  Auntie Donna had even found chocolate chips that are lactose free and made Katha some chocolate chip cookies.  She could barely wait until we got home to try one.  Her whole face lit up when she took a bite.

We also got an e-mail while we were in California from the NIH.  They will be doing the cyclodextrin trials.  They are still hoping to start in January, but they are now accepting applicants.  From what I got in the e-mail there are a couple things that worry me.

They are putting the 9 patients in groups of 3 and are doing dosages according to the group.  So, if in your group the NIH decides they want to up the dosage, you are not allowed to say no.  From what I gather, we are going to have to sign something that won't let us back out of testing once we enter.

I have spoken to some other NPC families and from what I gather the NIH doesn't have your kids best interest at heart.  In fact, they treat them like lab rats.  So, this caused Amory and I to have a very serious discussion on the way home about whether or not we even want to be part of the trial anymore.

After receiving the e-mail I sent it straight to Dr. Khan with the request to be able to see him on Dec. 5th, when we will be down in Calgary for an ultrasound.  I haven't heard back from him yet.  But, I think we're going to apply but since they are only accepting 9 people and most likely wanting Americans to cut down on expenses, there's little chance we'll get in.

I will re-update after we've been on the Zavesca for a while to see if there's much difference if any on Katha symptoms.  So, as of today they are:

Enlarged liver: Same

Enlarged spleen: Still 6cm below her ribcage.

Ataxia (unsteady gait):  Katha continues to fall down a lot.  The need for a wheelchair is become more and more evident.  Luckily, she seems to like the wheelchair, but is still willing to walk if it is not too great of a distance.

Dysarthria (slurred speech):  Katha is becoming harder to understand.  Unless you are around her a lot, you sometimes have a great difficulty making out what she is trying to say.  This causes Katha to not want to talk to strangers a lot.  It also causes her great frustration when you have to ask her to repeat herself.

Dysphagia (trouble swallowing):  Katha's drooling is becoming more of a problem.  But, she still rarely chokes and still has a good appetite.

Basal Ganglia (holding limbs at awkward positions):  Katha's finger are often curled and her small motor skills are all but gone because of it.  She now asks for a sippy cup rather than a regular cup because she can't hold a cup very well.  If she can't get a sippy cup she wants a straw.  Her printing (although always sloppy) is almost unreadable now.

Dementia (memory loss):  Katha needs a lot of reminders throughout the day.  I noticed this most when doing the journal.  I would ask her about her day and she simply wouldn't remember.  However, when I would remind her what we did that day, she would have a conversation about it.

Seizures:  Katha still has not had a seizure and we're hoping to keep it this way for a while.

Sleep related disorders:  She often comments on how tired she is.  When asked if she wants to go to school she will often say she doesn't want to because she is too tired.  I don't know if this is just an excuse or she really is exhausted.  Honestly, I think it's a little of both.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  The wheelchair was great for this as well.  I could finally make her laugh without fear that she would hurt herself.  It was great to hear her really laugh again.

Sensitive Touch: We noticed that Katha doesn't really like anyone but me touching her anymore.  We wondered if this was because of her increased sensitivity to touch.  I worry how long it will be until she doesn't want me touching her anymore either.

Bladder control:  Katha was in pull-ups our entire trip but kept them dry most of the time.

Hearing Loss: Dr. Khan should be testing for this very soon but I honestly wonder if it wasn't just my imagination because she seems to hear things I don't think she should be able to.

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