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.
Thursday, 16 May 2013
Sunday, 12 May 2013
Disneyworld
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!
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.
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.
Tuesday, 23 April 2013
April 23, 2013
So, this past weekend we had Katha's Bon Voyage party. It was a pool party at the Collicutt Centre. This was put on by Make-A-Wish and we got to invite Katha's class. About 17 kids turned up, and it was snowing, so we were pretty happy with that. Katha went down the water slide twice by herself. She was very proud of herself and I was proud of her too!
At the end of the party Jaclyn and Kirby (the women in charge of making Katha excited for her trip) gave us a package for our trip which includes our itinerary. I spent the rest of the day looking through that package, that's how big it was!
I cannot say enough good things about Make-A-Wish. Seriously, the next time you're looking for a charity to donate to, I would recommend Make-A-Wish. They thought of everything and have been so kind and generous to us. I feel like we're taking advantage.
Last week, I finally started to get a hold of Alberta Aids Daily living to get some help with Katha's supplies. After calling 5 different people they told me I need to have another assessment done to find out Katha's mental age. The last assessment only told us what percentile she is performing at compared to her peers. I don't know if I mentioned it before so Katha has the cognitive ability under the first percentile in relation to her peers. So, that means, most kids her age are at about 50% she is under 1%. However, she currently performs between 20 - 25%.
The people that administered the assessment were actually amazed at how hard she tries to keep up. Which gave me some peace of mind, one of my biggest fears is I'm not expecting enough from her, and not pushing her hard enough to keep up.
Jarrome actually got an assessment done today to see if he will get into Pre-K. The results are not supposed to be in for another three weeks. But, after explaining our situation with Katha and being worried about Jarrome she let me know that he is doing alright. Pretty average for his age, he is ahead in some things and behind in others. She thinks he will get into Pre-K, which would be awesome because then Dominik wouldn't have to go to school alone anymore when Katha is sick.
Katha has a cold and I kept her home yesterday thinking that she would feel better with more rest. She woke up like she was going to get on the bus, and didn't have a nap all day. So, today I thought "that's it, you're going to school!" The teacher called by 10 AM to ask if I would come pick her up. Because of Jarrome's assessment she ended up staying at school and they told me when I got there that she was actually a lot better now. But, as soon as she saw me, she wouldn't leave my side.
We don't get on the air plane for Florida until 5 minutes to midnight. So, that afternoon I've booked a meeting with Katha's teachers and her doctor. He is actually driving in from Calgary for this meeting at the school. I must say, I was shocked that a doctor who has a 6 month waiting list would take off an entire afternoon just for us. Anyways, at this meeting I plan to ask him about supplements because Katha is still losing weight, and I think it's time we start seriously considering this.
We got a letter back from the government that we can now claim Katha as a disabled dependant on our taxes. We can also write off any medical expenses, and we can go back to when she was born and re-file her as being disabled. Hopefully, this will help with future medical expenses.
Other than that, I can't think of anymore updates, so onto her symptoms:
Enlarged liver: Still enlarged, still the same size, as far as I know.
Enlarged spleen: Same as the liver
Ataxia (unsteady gait): Katha still falls down a lot. The other day she fell onto her back and started SCREAMING "I DON'T KNOW WHERE I AM!" over and over again until Amory finally helped her up. The next day she fell on her side and immediately said "it's okay, I know where I am." It was in the middle of Jarrome's birthday party and I immediately burst out laughing because that was her greatest concern when falling. We went on a bike ride the other day and I have to push her from behind because her thigh muscles aren't strong enough to do it by herself.
Dysarthria (slurred speech): Katha's speech is still hard to understand but she tries really hard. Although, a lot of the time, she's just too quiet to understand. It gets frustrating when she won't talk above a whisper, but I think she does this because she is worried that someone won't understand her when she is speaking loud enough.
Dysphagia (trouble swallowing): She choked on a piece of steak the other night. I have been so worried because she won't cough properly. Luckily, she got it up all by herself. We have been cutting little bitty pieces for her ever since, and she hasn't had another problem.
Basal Ganglia (holding limbs at awkward positions): I noticed her doing this just walking down the stairs at the doctors office today. I think when she's doing something that is more difficult for her such as walking on ice or going downstairs, her limbs just tend to get held at awkward positions.
Dementia (memory loss): Her memory is affected, but it's not as bad as it could be. She was playing a memory game today and she kept picking the same tile over and over again because she wouldn't be able to remember what it was otherwise.
Seizures: Still no seizures.
Gelastic Cataplexy (falling down in response to a large emotional outburst): This is starting up again more and more. Hopefully, it will keep itself down enough that she won't need additional medication for it.
Sleep related disorders: Katha seems tired most of the time right now. Yet it takes a while for her to go to sleep. Any physical exertion seems to drain her. Although with her losing weight, the fact that she's not often physically coordinated enough to run without falling, and that she often just wants to be alone, I don't push her to get up and be overly active anyway. The boys on the other hand never stop moving.
Sensitivity to touch: Katha still enjoys her cuddles with both Amory and I. She will also shake people's hand and hug other family members.
A lot of these things will be bad one day and good another. Keeping track of her digression will not be as easy as I thought it would be.
At the end of the party Jaclyn and Kirby (the women in charge of making Katha excited for her trip) gave us a package for our trip which includes our itinerary. I spent the rest of the day looking through that package, that's how big it was!
I cannot say enough good things about Make-A-Wish. Seriously, the next time you're looking for a charity to donate to, I would recommend Make-A-Wish. They thought of everything and have been so kind and generous to us. I feel like we're taking advantage.
Last week, I finally started to get a hold of Alberta Aids Daily living to get some help with Katha's supplies. After calling 5 different people they told me I need to have another assessment done to find out Katha's mental age. The last assessment only told us what percentile she is performing at compared to her peers. I don't know if I mentioned it before so Katha has the cognitive ability under the first percentile in relation to her peers. So, that means, most kids her age are at about 50% she is under 1%. However, she currently performs between 20 - 25%.
The people that administered the assessment were actually amazed at how hard she tries to keep up. Which gave me some peace of mind, one of my biggest fears is I'm not expecting enough from her, and not pushing her hard enough to keep up.
Jarrome actually got an assessment done today to see if he will get into Pre-K. The results are not supposed to be in for another three weeks. But, after explaining our situation with Katha and being worried about Jarrome she let me know that he is doing alright. Pretty average for his age, he is ahead in some things and behind in others. She thinks he will get into Pre-K, which would be awesome because then Dominik wouldn't have to go to school alone anymore when Katha is sick.
Katha has a cold and I kept her home yesterday thinking that she would feel better with more rest. She woke up like she was going to get on the bus, and didn't have a nap all day. So, today I thought "that's it, you're going to school!" The teacher called by 10 AM to ask if I would come pick her up. Because of Jarrome's assessment she ended up staying at school and they told me when I got there that she was actually a lot better now. But, as soon as she saw me, she wouldn't leave my side.
We don't get on the air plane for Florida until 5 minutes to midnight. So, that afternoon I've booked a meeting with Katha's teachers and her doctor. He is actually driving in from Calgary for this meeting at the school. I must say, I was shocked that a doctor who has a 6 month waiting list would take off an entire afternoon just for us. Anyways, at this meeting I plan to ask him about supplements because Katha is still losing weight, and I think it's time we start seriously considering this.
We got a letter back from the government that we can now claim Katha as a disabled dependant on our taxes. We can also write off any medical expenses, and we can go back to when she was born and re-file her as being disabled. Hopefully, this will help with future medical expenses.
Other than that, I can't think of anymore updates, so onto her symptoms:
Enlarged liver: Still enlarged, still the same size, as far as I know.
Enlarged spleen: Same as the liver
Ataxia (unsteady gait): Katha still falls down a lot. The other day she fell onto her back and started SCREAMING "I DON'T KNOW WHERE I AM!" over and over again until Amory finally helped her up. The next day she fell on her side and immediately said "it's okay, I know where I am." It was in the middle of Jarrome's birthday party and I immediately burst out laughing because that was her greatest concern when falling. We went on a bike ride the other day and I have to push her from behind because her thigh muscles aren't strong enough to do it by herself.
Dysarthria (slurred speech): Katha's speech is still hard to understand but she tries really hard. Although, a lot of the time, she's just too quiet to understand. It gets frustrating when she won't talk above a whisper, but I think she does this because she is worried that someone won't understand her when she is speaking loud enough.
Dysphagia (trouble swallowing): She choked on a piece of steak the other night. I have been so worried because she won't cough properly. Luckily, she got it up all by herself. We have been cutting little bitty pieces for her ever since, and she hasn't had another problem.
Basal Ganglia (holding limbs at awkward positions): I noticed her doing this just walking down the stairs at the doctors office today. I think when she's doing something that is more difficult for her such as walking on ice or going downstairs, her limbs just tend to get held at awkward positions.
Dementia (memory loss): Her memory is affected, but it's not as bad as it could be. She was playing a memory game today and she kept picking the same tile over and over again because she wouldn't be able to remember what it was otherwise.
Seizures: Still no seizures.
Gelastic Cataplexy (falling down in response to a large emotional outburst): This is starting up again more and more. Hopefully, it will keep itself down enough that she won't need additional medication for it.
Sleep related disorders: Katha seems tired most of the time right now. Yet it takes a while for her to go to sleep. Any physical exertion seems to drain her. Although with her losing weight, the fact that she's not often physically coordinated enough to run without falling, and that she often just wants to be alone, I don't push her to get up and be overly active anyway. The boys on the other hand never stop moving.
Sensitivity to touch: Katha still enjoys her cuddles with both Amory and I. She will also shake people's hand and hug other family members.
A lot of these things will be bad one day and good another. Keeping track of her digression will not be as easy as I thought it would be.
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.
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.
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.
Monday, 4 February 2013
February 4, 2013
Well, as I posted on my Facebook page, we have found out that Katha won't be getting into the cyclodextrin trials. Honestly, this was a huge blow after talking with her doctor and him telling us this was the one chance we have at extending our daughters life at all.
I left this in God's hand knowing he would know what is best for Katha. Sometimes, giving things up to God is really hard when you don't get the answer you were expecting. But, I have faith that God knows more than I do, and knows what's best for my daughter.
Yesterday I got a call from Katha's teacher that the aid is starting today. So, I drove Katha and Dom to school and met her. She seems really nice and I can't wait to work with her more in the future. I haven't seen her interact with Katha yet, but as she is going to be working with her every morning I'm sure they will develop a relationship quickly.
I told her that I really want Katha to like school again. Her two biggest complaints is that the classroom is too noisy and she doesn't have any friends. I also told her that I have noticed that whenever I'm at the school, her classmates all really make an effort to say "hi" to Katha but she doesn't seem to notice.
I think part of the problem is that everything moves to quickly for her, so to cope with that she withdraws and thinks that the world is withdrawing from her. I'm hoping that if she can have someone who can help slow things down for her she will be able to interact with her peers more.
Also, when I got home, there was a message from the Make a Wish Foundation. I had recently applied on their web-site for Katha, and today it was acknowledged that she is eligible. Then this afternoon they called and her doctor had mentioned that the sooner we get our wish the better. It sounds like they will be sending us to Disney World, but they will be doing an interview with Katha when she gets home from school to see if that's the best option for her.
We have also started to plan a trip to B.C. for this summer so Katha can see the ocean for the first time. Amory's dad was telling us there's a mini-reunion in Ontario this year. So, we asked Katha if she would like to go to the ocean, to Montana or to Gramma and Grandpa's. Her initial concern was that she would have to swim with whales in the ocean. Once we told her that there would be no whale actually touching her in the ocean, she voted that one.
So far, we've only been looking at cabins, but thanks to some friends on Facebook, we have started finding reasonably priced places.
For the past few weeks Katha stomach has been really bad. She has been having a lot of accidents. It was to the point last week that she missed three days of school. What has been most frustrating was that she is still on her lactose free diet. I thought that maybe fresh fruit was causing her problems, but after making sure she wasn't having any of that she was still having problems.
So, on Friday I called her doctor who told us to start her dosage of Zavesca all over again. Because she was going to the bathroom every hour they were worried she would start loosing weight if we let that go on too long. If lowering the dosage of the medication doesn't work we will have to take her off of the Zavesca. I would like to avoid this because I honestly think it's helping. Katha has been becoming increasingly aware of her surroundings and hasn't fallen down at home in nearly as much.
She has already started having less trouble with her stomach, and is in school today, so we will see how that goes.
I plan to call Katha's doctor next week because the boys test results should be in by that time to let us know if they have Niemann-Pick as well. I can honestly say I'm scared. It's really tough trying to be strong for one of your kids, but thankful you have two healthy ones. It would be a real blow to find out you have more sick kids than healthy ones.
I know that other Niemann-Pick parents go through exactly that, and I admire them for that. I also know that if one or both of the boys have it we will deal with it. I just pray we don't have to.
I don't think there's anymore updates. Hopefully, the next one will be a happy one saying both the boys are fine!
Here are the symptoms as they stand now:
Enlarged liver: Still enlarged
Enlarged spleen: Still enlarged
Ataxia (unsteady gait): Katha still walks on her toes constantly. In the snow her hand needs to be held constantly because she just doesn't have the balance to navigate the snow.
Dysarthria (slurred speech): Katha still speaks very slowly. She has, however, been able to express herself more clearly and even tells us stories once in a while.
Dysphagia (trouble swallowing): I've been noticing Katha has been having more trouble eating. Not only is it getting harder for her to feed herself, she has trouble swallowing bigger pieces of food. When she coughs, it's like she can't fully cough, which scares me if she ever really chokes.
Basal Ganglia (holding limbs at awkward positions): Katha still does this quite a bit. It makes it difficult to hold her hand when helping her walk. After being on facebook with other Niemann-Pick moms some have mentioned that giving them a gait belt. Which is a belt you can hold onto while they walk to ensure they won't fall down. I think this might be something we invest in soon.
Dementia (memory loss): Katha has been improving in this area. She is starting to remember things that happened a couple days ago. Where before, if it wasn't something big, she probably wouldn't remember it. However, recently she has recalled small things that have happened in day to day life. Things such as which toy she was playing with which day. Small things that we would think nothing of remembering is a big deal for her.
Seizures: No seizures, hopefully it stay that way!
Sleep related disorders: Katha still has trouble going to sleep and waking up. But, all of my kids seem to have that problem.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha hasn't had a really bad episode of this since January. I hope it stays that way.
Sensitive Touch: Katha has started initiating hugs with other people again. She will give her grandparents hugs hello and goodbye.
I left this in God's hand knowing he would know what is best for Katha. Sometimes, giving things up to God is really hard when you don't get the answer you were expecting. But, I have faith that God knows more than I do, and knows what's best for my daughter.
Yesterday I got a call from Katha's teacher that the aid is starting today. So, I drove Katha and Dom to school and met her. She seems really nice and I can't wait to work with her more in the future. I haven't seen her interact with Katha yet, but as she is going to be working with her every morning I'm sure they will develop a relationship quickly.
I told her that I really want Katha to like school again. Her two biggest complaints is that the classroom is too noisy and she doesn't have any friends. I also told her that I have noticed that whenever I'm at the school, her classmates all really make an effort to say "hi" to Katha but she doesn't seem to notice.
I think part of the problem is that everything moves to quickly for her, so to cope with that she withdraws and thinks that the world is withdrawing from her. I'm hoping that if she can have someone who can help slow things down for her she will be able to interact with her peers more.
Also, when I got home, there was a message from the Make a Wish Foundation. I had recently applied on their web-site for Katha, and today it was acknowledged that she is eligible. Then this afternoon they called and her doctor had mentioned that the sooner we get our wish the better. It sounds like they will be sending us to Disney World, but they will be doing an interview with Katha when she gets home from school to see if that's the best option for her.
We have also started to plan a trip to B.C. for this summer so Katha can see the ocean for the first time. Amory's dad was telling us there's a mini-reunion in Ontario this year. So, we asked Katha if she would like to go to the ocean, to Montana or to Gramma and Grandpa's. Her initial concern was that she would have to swim with whales in the ocean. Once we told her that there would be no whale actually touching her in the ocean, she voted that one.
So far, we've only been looking at cabins, but thanks to some friends on Facebook, we have started finding reasonably priced places.
For the past few weeks Katha stomach has been really bad. She has been having a lot of accidents. It was to the point last week that she missed three days of school. What has been most frustrating was that she is still on her lactose free diet. I thought that maybe fresh fruit was causing her problems, but after making sure she wasn't having any of that she was still having problems.
So, on Friday I called her doctor who told us to start her dosage of Zavesca all over again. Because she was going to the bathroom every hour they were worried she would start loosing weight if we let that go on too long. If lowering the dosage of the medication doesn't work we will have to take her off of the Zavesca. I would like to avoid this because I honestly think it's helping. Katha has been becoming increasingly aware of her surroundings and hasn't fallen down at home in nearly as much.
She has already started having less trouble with her stomach, and is in school today, so we will see how that goes.
I plan to call Katha's doctor next week because the boys test results should be in by that time to let us know if they have Niemann-Pick as well. I can honestly say I'm scared. It's really tough trying to be strong for one of your kids, but thankful you have two healthy ones. It would be a real blow to find out you have more sick kids than healthy ones.
I know that other Niemann-Pick parents go through exactly that, and I admire them for that. I also know that if one or both of the boys have it we will deal with it. I just pray we don't have to.
I don't think there's anymore updates. Hopefully, the next one will be a happy one saying both the boys are fine!
Here are the symptoms as they stand now:
Enlarged liver: Still enlarged
Enlarged spleen: Still enlarged
Ataxia (unsteady gait): Katha still walks on her toes constantly. In the snow her hand needs to be held constantly because she just doesn't have the balance to navigate the snow.
Dysarthria (slurred speech): Katha still speaks very slowly. She has, however, been able to express herself more clearly and even tells us stories once in a while.
Dysphagia (trouble swallowing): I've been noticing Katha has been having more trouble eating. Not only is it getting harder for her to feed herself, she has trouble swallowing bigger pieces of food. When she coughs, it's like she can't fully cough, which scares me if she ever really chokes.
Basal Ganglia (holding limbs at awkward positions): Katha still does this quite a bit. It makes it difficult to hold her hand when helping her walk. After being on facebook with other Niemann-Pick moms some have mentioned that giving them a gait belt. Which is a belt you can hold onto while they walk to ensure they won't fall down. I think this might be something we invest in soon.
Dementia (memory loss): Katha has been improving in this area. She is starting to remember things that happened a couple days ago. Where before, if it wasn't something big, she probably wouldn't remember it. However, recently she has recalled small things that have happened in day to day life. Things such as which toy she was playing with which day. Small things that we would think nothing of remembering is a big deal for her.
Seizures: No seizures, hopefully it stay that way!
Sleep related disorders: Katha still has trouble going to sleep and waking up. But, all of my kids seem to have that problem.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha hasn't had a really bad episode of this since January. I hope it stays that way.
Sensitive Touch: Katha has started initiating hugs with other people again. She will give her grandparents hugs hello and goodbye.
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