Monday 11 March 2013

March 11, 2013

Wow!  So much has happened since I last posted.  Katha has started on full dosage of Zavesca, and she has started to have some stomach problems again.  However, we also missed a couple of times, and it didn't get better.  I'm thinking she actually has a virus, and this will pass in a few days.

We saw her doctor in Calgary a little while ago.  He was amazed with her progress with her medication.  When we first met the doctor a few months ago, Katha sat quietly and didn't say much.  Her talking, walking, and small motor skills were very lethargic and choppy.  This time, Katha told him stories about her upcoming birthday, and what had happened that weekend. 

We were at the doctor to talk about whether or not to continue Zavesca.  After seeing her progress on the medication, he wants to keep her on it.  So, for now all we can really do is watch her.  He was also saying that because of the medication Katha will get loose bowel movements more often.

Also, she has lost almost 10 pounds since we were there last.  However, she has grown almost an inch.  Apparently, this is another side effect of the medication.  If she looses much more we are going to have to look at getting her on a supplement to help boost her caloric intake to help her gain weight. 

I have also found out that the doctor decided not to run the tests on the boys.  He has instead frozen their blood samples and if they ever start showing symptoms then and only then will he run the tests.  He did this for moral reasons, which, I get.  Even if they do have NPC it could be years before they start showing symptoms and the doctors wouldn't  treat it until they were showing symptoms.  It's just frustrating because every time they fall or don't clue into something right away, I'm left to wonder if it was a symptom or just a kid being a kid.

We also found out that we are going to Disney world through Make-a-Wish.  When they asked Katha if she could have anything in the world what would it be, her immediate response was "2 sisters".  We all laughed and they told her they couldn't give her sisters.  Then she said toys, and I was left hoping they wouldn't send her a bunch of toys she didn't want or need.  Finally (after a bit of prompting) she asked to go to Disney world.  Luckily, she was very excited by this, so hopefully they know it's not me that wants this trip but Katha.  (Although, I'd be lying if I said I wasn't excited as well!)

They are letting us take Mom and Dad with us.  We could sure use the extra help and we love having them for company.  They are also letting us stay at a resort called Give Kids the World.  It's a place that all the Make-a-Wish type foundations send kids that are going to Disney world, so it's very tailored to special needs kids.  They even have all different flavors of lactose free ice cream.  Katha is very excited about the ice cream.  They also have a life-sized Candyland board.  So, I went out and bought the game.  The kids love it so much we've played almost every night since I bought it.

Katha also had her birthday.  We were originally planning a birthday party with mom and dad, sisters and brothers and cousins.  When mom got home from Mexico it turned into a birthday party with 80 people that was princess and knight themed.  People came dressed up, and it was awesome!  Katha had such a great time.  The girls got princess make-overs and the boys got to make their way through knight school.

It was amazing to actually see all the people who show us so much support in one room.  Everyone got her princess stuff and she had SO much fun opening it.  We are slowly opening the boxes so that it can extend the excitement of her birthday.  The Rushton side gave Katha an Ipad, which she hasn't really put down since.  The Ipad was recommended to us by her speech therapist because when Katha can no longer talk she will still be able to flip through pictures on the Ipad and point to what she wants.

So far, she pretty much plays games and watches Netflix on it.  But, she still loves it and is getting used to using it.

Our friend Janine Glasier did a fund raiser for us.  As well, Katha's school, St. Teresa did a fundraiser for us as well.  When faced with such a challenge like Niemann-Pick it amazes me we can find blessings.  The people in our lives are definitely a prime example of this.  They all put in a great amount of hard work and raised a lot of money and we really appreciate everything they have done for us.

I apparently have to update more, because I'm sure I'm leaving things out!  Well, onto the symptoms:

Enlarged liver:  When we saw Katha's doctor both her liver and spleen had shrunk slightly.  Which we didn't think was even possible at this point. 

Enlarged spleen:  They had shrunk about 2 cm, which truly is amazing.

Ataxia (unsteady gait): Katha still walks on her tip-toes but can walk a straight line and hasn't fallen down much at all.   At her birthday party she was running(!) and didn't fall down until she his some ice at the end of the night while she was exhausted.

Dysarthria (slurred speech):  Katha's speech is still slurred and slow but everyone can understand her now.  She even was comfortable enough to thank everyone for coming to her party.  It warmed my heart to see her try like that and, I think, shocked a few people at the party.

Dysphagia (trouble swallowing):  We are having trouble getting Katha to eat.  Which is especially not good considering she is already loosing weight because of the medication.  I'm thinking she may be having trouble swallowing.  Although, often she tells us that food she has loved for years no longer tastes very good.  Perhaps she just doesn't know how to articulate that she is having trouble swallowing it.  She still drools quite a bit.

Basal Ganglia (holding limbs at awkward positions):  Katha still does this, you can tell especially when holding her hand because it is very awkward.

Dementia (memory loss):  Katha does show signs of memory loss.  If you can kind of remind her of what was going on, she will remember, but will often forget a lot of small daily things.

Seizures:  Still no seizures, although, Dr. Khan still seems convinced it's not if it's when.

Gelastic Cataplexy (falling down in response to a large emotional outburst): This still happens occasionally.  I really need to try to get this on film because so many of her specialists are interested in it.

Sleep related disorders:  Katha still has trouble going to sleep and she seems to be waking up earlier and earlier.

Sensitive Touch:  This has seemed to somewhat go away.  Before she wouldn't allow anyone but me touch her, now she freely gives hugs to people she knows.  She also shook the principal hand today, which was very nice to see her acknowledge someone like that.

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