Thursday, 28 March 2013

March 28, 2013

I decided I'm going to try to update as things happen. Hopefully, I'll be able to keep it up. We got Katha a walker for school.  Her teacher told us that the supervisors keep finding her laying on the ground outside of the school.  They don't know whether she is falling or just getting tired and laying down.  Either way, with the walker she can sit if she needs to and it will help keep her on her feet if she's falling.   Whenever I take her out of the house she generally wants to hold my hand to help her walk.  People stare at us funny all of the time because I'm holding my 8 year olds hand to walk and it probably doesn't help she could pass for 12.  Oh well, it just goes to show that you shouldn't judge other people, you never know the reasoning behind the things they do.

We saw Katha's paediatrician.  We ended up agreeing that because Katha is doing so well there's really not much she can do for us right now.  My heart skipped a beat when she told me this, but after thinking about it for a minute I agreed.  However, I did tell her she will become invaluable as this disease progresses. 

Her metabolic doctor told us that kids with this disease often end up dying of pneumonia.  Their immune system is diminished so as the disease progresses a simple flu could have disastrous results.  So, I made sure to inform her paediatrician that when she starts getting bad, we're going to need a doctor in Red Deer that knows Katha's history.

The Make a Wish foundation has set up Katha's going away party for April 20th.  The Collicut centre in Red Deer has donated passes for Katha and her entire class to go swimming that day.  Katha is very excited about it.  She was even wondering if we could invite Dominik's class as well.  But, I told her it's better if we just have hers.

While we were in Disneyland Katha fell in love with 2 rides.  One was in California Adventure, it was a Little Mermaid ride where you get into a little clam shell and go through the story of the little mermaid.  The other was in Fantasy Land and a ride we are all familiar with, it was the Dumbo ride.  I have told Katha repeatedly that while we will get to go on the Dumbo ride at Disney world, they won't have the Little Mermaid ride.  After looking around the Disney world website I realise that they have recently put in the Little Mermaid ride.  Not only that, they have put it almost next to the Dumbo Ride.  When I told Katha this her whole face just lit up!  I have a feeling we will be spending a lot of time in that little corner of Fantasy land.  And it will be totally worth it.

I love being able to talk to other parents on facebook that have kids with Niemann-Pick.  They are so supportive and amazing and know exactly what you are going through.  The downside is at least twice a month there is a notice of whose child has had to succumb to this terrible disease.  So, at least every other week your heart breaks for a family that is going through the worst situation imaginable.  And I dread the day it is us.  Sometimes, you really do need to remind yourself to enjoy it.  Even the hard parts, because it's not going to last forever, or even a long time.

Sometimes, it's just hard.  Thank God for the people in my life.

So onto the symptoms:

Enlarged liver:  Still enlarged.

Enlarged spleen:  Ditto

Ataxia (unsteady gait):  Snow and ice are not Katha's friends.  In fact, she is desperately afraid of ice on sidewalks and will avoid having to walk through snow like it's the plague. I cannot wait for the winter to be over!  She tries so hard to keep up with her friends.  I think she finds it easier to keep up with the kindergartners at her school.  I think it will be that way for a while.

Dysarthria (slurred speech):  Katha can be very difficult to understand but she tries her very best.  We have really been focusing on Jarrome's pronunciations, and Katha tries to help.  It's really quite funny to watch her try to correct Jarrome when she can't even say the word she's trying to teach him correctly.

Dysphagia (trouble swallowing):  Katha has good days and bad days with this.  Some days she will tell she no longer likes a food she has loved her entire life.  Then, the next day she will eat it again.  Her weight is still an issue, but she is holding steady at her current weight.  She is in the 88th percentile for height and only about the 60th for weight.  So, we are looking into supplements.  Hopefully we will be able to find one that she likes.

Basal Ganglia (holding limbs at awkward positions):  Katha tries so hard to keep her writing strong.  She apparently had a good day yesterday, which is awesome.  She has a hard time with writing and with playing the Wii because of this.  The reason the Wii is hard is because you have to point the controller at the screen and she can't keep her hand where she needs to to be able to do this.

Dementia (memory loss):  I think this is improving.  It has gotten a lot better since her aid got her a "me book" in which we help her write about both her day at school and her day at home.  The nice thing about this is instead of just asking "how was your day" I can ask "did you have fun playing with this friend?"  Which is just what she needs in order to be able to recall most of her day.

Seizures:  Still no seizures.  Although, last night I had a dream she had her first one, was I ever glad to wake up.

Gelastic Cataplexy (falling down in response to a large emotional outburst):   This happens quite a bit. If Katha starts to find something funny she generally looks for a place to sit down too.  It's good she knows to do this, but kind of sad that she has to.  But, the wonderful thing is, she still laughs, no matter what.

Sleep related disorders:  Katha can get to sleep usually at a fairly decent time, but she does tend to wake up early.  When she is home, if she can lay down in the afternoon, it generally helps.

Sensitivity to touch:  Katha has started to ask for family cuddles.  For her, this is huge considering just a few months ago she wouldn't let anyone but me touch her.  When we do have family cuddles we usually go to our room and it usually ends up in a tickle war.  Katha is always the first one in the room.  She also loves to be tickled.

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.