Thursday, 16 May 2013

May 16, 2013

Katha had her first appointment with the G.I. clinic in two years today.  So, obviously, this was her first appointment with them since her diagnosis.  They had really good news.

We had taken an ultrasound of Katha's liver and spleen back in October.  Her liver was a normal size and her spleen had shrunk 2 cm.  Katha didn't start her medication until December so that means we were seeing positive results even before her neurological symptoms were improving.

Also, her blood work showed that her liver is functioning near normal.  So, her doctor feels that the disease is probably not affecting her liver and spleen at this point.  It may in the future, so they will keep her file open, but for now they are completely handing us over to the metabolic specialist.

Then we saw the metabolic clinic.  Her gaze has improved slightly, her speech is quiet and slurred, and she wasn't as interactive with the doctor this time.  However, she had been sleeping in the car, not to mention she had some cataplexy in the parking garage. That always freaks her out quite a bit.  Also, I had mentioned to her that she may have to get blood work because the G.I. clinic had ordered some to keep track of her liver functions.  So, she wasn't really into trusting doctors right at that moment. (I find if I warn her she's getting blood tests she handles it better).

The metabolic doctor also advised us that Katha can slowly start re-introducing lactose into her diet.  He said that a good place to start would be things like cooked cheese.  He suggested pizza.  THAT made Katha happy.  She hasn't had pizza for 6 months.  So, when we stopped for supper she almost jumped out of her seat when she saw pizza on the menu.  I've decided to keep her home tomorrow just in case it was too much too fast. She ate most of the individual sized pizza.

Enlarged Liver:  Is a normal size and functioning close to normal.

Enlarged Spleen:  Is currently 13 cm and functioning well.

Ataxia (unsteady gait): Katha has started to walk without turning in her feet which has resulted in fewer falls.  She has also started jumping on the trampoline again and running.

Dysarthria (slurred speech):  Katha speaks very quietly and slurs.  She is often very difficult to understand.  However, she has started getting louder, sometimes even yelling.

Dysphagia (trouble swallowing):  A clinic from Lacombe called to say that we have been referred to them for a swallowing assessment.  They are sending out a bunch of forms to fill out before we can be booked in for an appointment.

Basal Ganglia (holding limbs at awkward positions):  This is definitely one of the problems that the medication is not touching.  Katha does this a lot.

Dementia (memory loss):  Katha has recently started playing games that require some memory which has helped improve her memory.

Seizures:  Katha still has not had a seizure.  In fact, as I was unpacking our suitcases from Disney World I realised we had accidentally packed her seizure medication in the suitcase instead of the carry-on.  Thank goodness she didn't have a seizure on the plane.

Gelastic Cataplexy (falling down in response to a large emotional outburst):   This still happens quite a bit.  The doctor offered us medication to try to control this but I declined because it doesn't happen often enough for it to be a big enough concern.

Sleep related disorders: Katha has been sleeping in a little bit.  Hopefully this is a sign of her getting back to her regular sleeping patterns. 

Sensitivity to touch:  Katha is not big on people touching her but that could just be her because as soon as an employee at Universal asked if she could hug her Katha hugged anyone who would stay still long enough to accept a hug.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  I have failed to mention this symptom before.  Katha has trouble looking up.  In fact, there are days she can't look up at all.  Today, she looked up farther than I have seen her able to in months.  Even the doctor was impressed.

Sunday, 12 May 2013


Well, we're back.  What a week!!  We were treated like royalty the entire week.  Give kids the world was amazing.  Just to warn you, there isn't much for Katha's symptoms in this one, this is simply a run down of Katha's wish coming true and then some.  It was an incredible week.  Please, don't feel bad if you don't read this one, it's mainly just me reminding my future self of everything I can think of.

May 4th:

We landed at the airport and after meeting Roger from Give Kids the World, we started off for the resort.  When we got there we were all very tired and hungry.  So, we were sent to breakfast.  I've got to say, I've never been so pampered in my life. 

They treat you so well at Give Kids the World.  They cook, they clean, and they see to your every wish.  It was truly touching that everyone who works there (both employees and volunteers) top concern was our comfort and happiness.

The place was amazing!  We stayed in a two bedroom, two bathroom villa.  Even with 7 of us, it was more than enough space.  Once we were settled in we decided to have a quiet day at the resort.  They were having horseback rides when we got there.  But, by the time we were ready to go, they were over.  It was SO hot and muggy!

The kids and I decided to go for a walk and get to know the area.  We found Amberville.  It had a massive train set and  you could push buttons to make trains go, or buildings light up.  We sat there and played with that train set for probably 30 minutes.  Then we played in the arcade with all of the old video games.  We could have spent all day just in Amberville.  There were also boats in a real moat outside that had the remote controls to inside, so you could race the boats.

We also went to see the ice cream palace that served ice cream from 7 AM to 9:30 PM.  They even had lactose free ice cream for Katha!  She was in seventh heaven!  They also had a huge water park with a swimming pool and a mini-golf course.  However, the kids really enjoyed the park that had a life-sized Candyland board in it.  Katha immediately jumped up and ran the entire board.  In fact, we had quite a time keeping her in her wheelchair all week.  It was great to see considering in November she rarely left her wheelchair in Disneyland.

We were all still so tired that night that we ordered supper in and went to sleep.

May 5th:

We went to Universal Studios' Adventure Island.  We started off with Dr. Seuss.  Katha loved 1 fish, 2 fish, red fish, blue fish.  It was a ride just like Dumbo only there was fish on the sides that sprayed water on everyone.  Katha thought it was hilarious to get Mommy all wet.  Every time we went through a sprinkler I kept covering up Katha so she wouldn't get wet.  When I realised she was trying to get me wet I thought I should let her get wet, but it was natural instinct to cover her. 

We also went on the Cat in the Hat ride.  It spun around and Dominik HATED it.  In fact, he was done with Seuss Landing altogether.  But, we talked him into going on the little train through the rest of the island.

Then we walked through another island, but there wasn't anything we wanted to see there.  We did end up stopping for a magic show that turned out to be a very long commercial for some Magic kits.

Then we got to the Magical World of Harry Potter.  Anyone who knows me knows what I was like here.  We went into a couple stores.  I took more time taking pictures of everything than buying anything.  I ended up getting a chocolate frog and some Bertie's every flavoured beans.  Then we stopped at the 3 broomsticks for lunch.  I tried butterbeer, which I expected to be disgusting but it was delicious.  Even Mom liked it!

Then I bought some shirts for me and a friend who is just as obsessed with Harry Potter as I am, if not more, then we moved onto Hogwarts.  Amory and I took a ride through Hogwarts and it was really good!  Amory wanted to go back, but because of the type of ride it was, I wasn't feeling very good after that.

The rest of the family went on a Spider-man ride then we actually met Spider-man.  He was awesome, in fact when we saw him a little while later, he remember Katha's name and told her to always be amazing.

It was very crowded at Universal and Katha and I  weren't feeling that well, so we decided to call it a day after that.

May 6th:

We went to the Magic Kingdom.  We headed straight for Dumbo, Goofy's roller coaster, Tomorrowland's Speed way, then the Ariel ride. We soon realised just how fearless Jay is.  We could take him on any ride he is tall enough for.  We got Katha a stuffed Dumbo that turns into a pillow.  The way she latched onto that thing, it was the best thing we may have ever bought her.  We stopped at Story time with Belle where kids act out the story with Belle.  Katha got to be Maurice, Dom was silverware and Jay got to be the Beast.

Then we stopped for lunch, then proceeded to the Pirates of the Caribbean, Country Bears, Mickey's Philharmagic, Aladdin's Magic carpets, the Haunted Mansion, Space Mountain, Buzz's ride, Astro Orbiter, Monster's Inc Laugh Floor, and the Carousel.  We also went on Stitch's ride, Dom got so mad at that ride he was near tears.  We also stopped for a Dole Whip because I had read on several blogs that they are the must have food of Disney world.  We had to wait over an hour in line for them.  So, they weren't all they were cracked up to be.

Then we headed back over to Dumbo and the Speedway.  Then we got on the train, went to the front of the park and watched the electrical parade.  By that time it was pretty late so we went home.

May 7th:

Katha had her makeover at 1 so we slept in a little.  We went to downtown Disney, got Katha's makeover where she was the "window princess".  She got her makeover done right in the window of the store.  It was pretty cool.  She was originally going to be Princess Aurora (sleeping beauty) but they didn't have a dress in her size.  So, she decided to Merida (Brave).  I was glad because she looked awesome in the Merida dress.

After that we headed back to Universal Studios.  We got there and went to the Despicable Me ride first thing.  All 3 of the kids loved it.  Dom and Jarrome loved the actual ride and Katha loved the dance party afterwards.  Then we went on the Shrek ride.  Then back on the Despicable Me ride where we saw someone else from Give Kids the World.  Dom had watch E.T. at school so we went on that ride.  We talked Dom onto the Woody the Woodpecker roller coaster.  He was not Daddy's biggest fan after that.  Barney was closed and we tried to go see the Blue Man Group but we would have had to pay extra for that.  So, instead mom and dad took the kids back to the Despicable Me ride while Amory and I went on the Mummy ride twice because it was so much fun.  I was so glad we did this because we seriously thought about skipping the Universal Park altogether.

May 8th:

We had the character lunch.  We got to Epcot first thing and took the Test Track.  Dom actually liked this ride which was a miracle all in itself.  Then we headed over to the restaurant. We had to wait so we went on Maelstrom because it was right beside the restaurant.  Katha got to meet Snow White, Ariel, Aurora and Cinderella.  All the kids got to do a Conga line through the restaurant with the princesses.  Katha wore her Merida dress and all 4 princesses commented on how much she looks like Merida.

Then we went to Soarin', the Nemo ride, Universe of Energy, Spaceship Earth.  We tried to go on the 3 Caballeros ride but we couldn't find the entrance.  Dad and Amory went on Mission: Space.  They both seemed to like it.

Then we headed over to Hollywood Studios.  We had a whole bunch planned but everything was closing or closed by the time we got there.  So, we went on just the rides but not most of the shows.  We went on the Toy story ride, saw Ariel's show, Star tours, the Muppet Show (we saw Phineas and Ferb but they took a break just as we got into line), and went to the Honey I Shrunk the Kids playground which all three of the kids loved!

By that time we were all wiped and went home.

May 9th:

We went to the ocean.  To Cocoa Beach to be exact.  The kids were in their element.  We pushed the wheelchair out onto the beach but because it wasn't built for the beach that was a BIG mistake.  Amory had to practically pick it up and carry it out to where we were sitting.  When we left Give Kids the World it was 94 degrees and muggy.  When we got to the ocean it was only 87 with a beautiful wind.  We swam, we collected shells, it was perfect.  The kids didn't want to leave but I was worried about being out in the heat too much with my little red-heads.

After that we went to a pirate dinner show.  The show wasn't too bad.  It was loud, overly expensive, and the service was horrible.  However, the kids really liked it so it was definitely worth it.

May 10th:

We went back to Hollywood studios and went on all the things we couldn't a couple of nights before.  This included the Beauty and the Beast show, the Indiana Jones show, the Lightening McQueen stunt show, the Toy Story ride again, Disney Junior Live on Stage.  We also went back to the Honey, I Shrunk the Kids playground.

After that it was so hot we decided to go home and take a swim.  Once the sun set and because it was Friday, and the park was open later, we decided to go back to the Magic Kingdom.  This was one of the best decisions we ever made.

We walked into the park just before the parade started and it was wall to wall people.  We cringed and talked about turning around and going home.  As soon as we turned the corner to Adventureland it was clear of people.  We got on all the rides we wanted to do again.  We even got to go on Dumbo twice without even having to get back in line.

May 11th:

We had to be out of our Villa by 11 AM.  It was also another horseback riding day.  Everyday at Give Kids the World, while we were out at the parks a gift fairy would come in and leave the kids gifts.  They left so much that we had to go out and buy 2 more suitcases to be able to get all of our stuff home.   So, while Amory was buying suitcases, I took the kids on horseback rides.  All three of them like it a lot.  Also, they gave them cowboy hats which hardly came off for the rest of the day.

Once we checked out Amory went mini-golfing with the boys and Katha and I played some video games at Amberville.  Then we all went mini-golfing (on their really cool, dinosaur themed, interactive mini-golf course), and then for ice cream. 

After that we went swimming one last time then headed for the airport.

This has been just a not-so-quick review of some of the things we did for our week.  Other things worth mentioning, Katha was constantly dancing and running.  Every time we were in the car she made sure we were either playing I spy, thinking of words that began with certain letters, telling jokes or guessing who each other were (mostly we were Disney princesses).  It was amazing to watch her try to keep her brain active. 

When we went to Disneyland in November Katha was all smiles, but that was about it.  This time, this trip, she was the life of the party.  At least 5 times a day I would have to remind her to sit down.  She would laugh with everyone else when we were making fun of Amory's navigating skills (he would get us lost every time he sat in front).  I posted SO many photos and videos on facebook because I never want to forget this week.  This blessed week that will leave me with so many memories for so long.

Every time I was holding Katha and thinking "just close your eyes and remember this moment with everything you have" she would feel me getting emotional and crack some kind of joke.  It was awesome.  I thank God for giving me this week, it was so much more than I could have ever expected or prayed for.

If you've stuck with me for this long, thank you.  I can't believe you read this entire blog that is pretty much a list of rides!  If you are ever looking for a charity to give to I highly recommend Give Kids the World and Make a wish.  They both really go above and beyond!

Friday, 3 May 2013

May 3, 2012

Today I had a meeting with a huge group of people.  It was with everyone that works with Katha.  Her doctor from the metabolic clinic even took the morning off and came to the school to discuss strategies on how to work with Katha.  Most of the information was stuff we already knew.  Mostly, what was said is that the more active we keep her, the better she will do.

There were also several other things discussed.  Her doctor was saying that she is the mildest case of NPC he has ever seen.  He also doesn't expect her to go downhill very fast with how well she is responding to the medication.  He kept saying how he expects her to be okay for the next year. He can't guarantee anything, but from what he has seen, he feels that Katha will have a fairly slow progression of the disease.

There was a lot of good things that were brought up.  I guess the biggest change is that because Katha is still loosing weight we are going to start supplementing her with some formula for her drink at meals so that she might gain a little of it back.

Also, he recommended not to try any kind of supplements without checking with him first because we don't know how it will effect her neurological symptoms as well as how it will react with the medication she is on.

The school has noticed her gelastic cataplexy is getting worse again as well.  The doctor specifically asked about it and her aid wasn't sure what it was.  When I explained it's when she falls down because of a large emotional outburst you could see the light bulb go on in her aid.  She even said "That's what that is?!"  So, I'm glad to have confirmation that it is getting worse.  But, according to her doctor, that doesn't necessarily mean her decline is becoming more apparent.  It's just that the miglastat doesn't treat the cataplexy.  Which, was good to hear.

Her teachers said that Katha's reading is improving.  I don't see much of that, but I'm still glad they think so.  She is still learning and according to her doctor, that is a big deal.

They also mentioned how Katha has been using a walker to get to and from the bus at school.  The doctor was very supportive of this so the physio therapist said she would start proceedings on getting Katha fit for her own walker which would be great.

Onto the symptoms:

Enlarged liver and spleen:  According to the doctor some of Katha's mobility and weight loss issues could be caused by this.  With mobility, if she has to lay on her stomach, it could be harder for her because her liver and spleen could actually get in the way.  Also, some of the weight loss could be from her liver and spleen getting smaller.

Ataxia (unsteady gait):  Katha continues to struggle with this.  Although, I watched her run voluntarily for the first time in what seemed like forever.

Dysarthria (slurred speech):  Katha continues to be hard to understand as well as slow in her speech but she tries hard.  She is getting a new speech therapist who is looking into a communication device to help her when she looses her speech altogether.

Dysphagia (trouble swallowing):  I mentioned to the doctor today that Katha has started choking when eating and drinking.  Her teacher and her aid immediately said they had noticed that she will usually choke when drinking as well.  The nurse coordinator said they would set up a swallowing assessment through the children's hospital.

Basal Ganglia (holding limbs at awkward positions):  Katha does this quite a bit again.  Usually whenever she is sitting, she is holding her hands awkwardly.

Dementia (memory loss):  Katha still needs cues to remember events but once she does she loves to tell stories to anyone who will listen.  Katha having a wonderful sense of humour was mentioned by almost everyone who works with her.  The doctor was encouraged by this because it means Katha still has a lot of cognitive function.

Seizures: Still no seizures.  The doctor was telling us today that a seizure is a real sign of the disease progressing to the point that Katha may no longer be able to go to school.

Gelastic Cataplexy (falling down in response to a large emotional outburst):   As I mentioned earlier, this is getting worse.  It scares Katha and causes her not to laugh as much.

Sleep related disorders:  Katha still has trouble getting to sleep.  However, she is finally over her cold and will hopefully be less tired for a while.  The doctor mentioned today that Katha will take a while longer than most kids to recover from illnesses.  Both Katha's teacher and I have noticed how long it takes Katha to get over a simple cold.

Sensitivity to touch:  Katha is still doing well with this.  She allows people to hug her and still wants to cuddle as much as possible.  Often, when just sitting near me, she will reach over and grab my hand.

The doctor recommended getting Katha's hearing checked again to see if it's overly sensitive.  We are still waiting for the opthemologist appointment as well as the metabolic psychologist.