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.
Monday, 4 February 2013
Monday, 14 January 2013
Jan. 14, 2013
So, on January 10th, we went for an EEG. For those of you who don't know what that is (which I certainly was unsure) they take a bunch of little wires and stick them to your head using what looks like a mix of Vaseline and wax and try to find out if you are susceptible to seizures.
They want you to sleep through this test. So, they had us keep Katha up until midnight and get her up at 4 am and keep her up until the appointment at 8 am. Which, actually, was a lot easier than I even thought it would be. I rented a hotel room for the night because my thoughts were, the shorter the drive, the easier it would be to keep her awake. I think it was a good idea because the roads were TERRIBLE because we were in the middle of a blizzard. In fact, the technician was late because of the roads.
Katha got to the test exhausted, and the technician was having a bad day, I think. Katha was absolutely sure this guy was going to hurt her in some way. So, when he went to measure her head to figure out were to put the wires, she FLIPPED. She broke down in a way I haven't seen her break down in a while. He also only tried for about 2 minutes before he threw his pen and went for help.
The woman he brought back to help him was a godsend because she almost immediately got Katha settled down and got her head measured out and the wires on. However, the guy was still the one to run the test. Katha, still convinced the guy was out to get her, refused to go to sleep. She kept saying that he was just waiting for her to fall asleep to put needles in her head. I felt so bad, but she was not going to listen when I told her she was fine.
Exhaustion finally won out and she fell into a light sleep for about 10 minutes. Then they put on a strobe light and flashed it in her face for about 5 minutes.
After the test we went to see her neurologist. Katha was excited about that part because she loves her neurologist. The test showed that Katha did not have a single sign of having a seizure. Dr. Smyth also told us that she has been doing a lot of research about NPC and found out there's a 50% chance that she will never have a seizure and that's apparently on the pessimistic side.
That news was like a great weight taken off of our shoulders because we were informed that it was just a matter of time until her first seizure. To find out she may never have one?! It was hope where there was none before and that's a wonderful feeling.
Other than that, the doctor noticed she hadn't regressed anymore since our last appointment. Which is also a big deal because she was. I really think the Zavesca is helping. She walks a lot better, and hasn't really fallen in a couple weeks. Although, the day of her test she was so tired that she wasn't doing anything. It was like she was in a trance. You would call her and she would just look through you. It was scary.
Also, the day we went for the test my mom showed me an article in the Stettler paper that my cousin wrote about our experience with the Bashaw Community Theatre. It was amazing. If you have access to a Stettler or Bashaw paper, I highly recommend it. It's all about the benefits of living in a small town and the example of the generosity of the theatre group shown to Katha. It really was an experience I will never forget.
I got an e-mail from the cyclodextrin trial. It was on hold because the FDA was concerned the medicine and the tube that goes into their head is not compatible, but apparently they have resolved that. Hopefully we will know whether or not Katha is in the trial in the next month or so (fingers crossed and lots of prayers).
So, onto her symptoms:
Enlarged liver: Still enlarged
Enlarged spleen: Still enlarged
Ataxia (unsteady gait): That walks on her toes all of the time. However, she is no longer stomping when she walks and hasn't fallen down in a while.
Dysarthria (slurred speech): She still talks really slowly (slower I think) and is still quite hard to understand. However, she seems to be more "with it" and able to communicate what she's thinking more. If your willing to let her take her time to say what she needs to say, she can carry on quite a conversation. But, you have to be very patient.
Dysphagia (trouble swallowing): She still drools, and it happens quite a bit. When she coughs or chokes, it's like she can't cough very hard. I don't know whether she's trying to do that or whether it is a symptom.
Basal Ganglia (holding limbs at awkward positions): I still notice her doing this once in a while, but it's not constant anymore. She also has gained some more small motor skills. She still prefers her drinks in something with a lid because she still has some trouble holding things.
Dementia (memory loss): I thought this was becoming a problem, but recently she has started talking about things that have happened in the past. Which, she wasn't for a while. I think her memory is improving slightly as well.
Seizures: No seizures, hopefully it stay that way!
Sleep related disorders: Katha hasn't been as tired after school when she does go. She has been more alert since starting the Zavesca, but has continued to stay up later than usual.
Gelastic Cataplexy (falling down in response to a large emotional outburst): This has definitely improved. She is able to laugh again! At her appointment the doctor wanted to see it and since she was tired, I thought she might do it, but I couldn't get her to fall. Of course, the next morning while mom and I were giving her a bath, she did it. That was mom's first time seeing it.
Sensitive Touch: Katha has started letting other people touch her again, even if it's just holding her hand or a quick hug. She still doesn't really liked to be hugged by people other than Amory, the boys and I, but she will do it.
Bladder control: This remains to be a problem. It's better when she goes to school, and she doesn't have nearly as many accidents at home anymore but it still happens. Of course, the day of her test she had the worst reaction to the Zavesca I seen her have yet. In fact, I had to stop at home from Calgary to mom's to get more pants because something she ate must have had milk in it. She had 3 accidents because of loose bowels in the hospital but after that she was fine.
They want you to sleep through this test. So, they had us keep Katha up until midnight and get her up at 4 am and keep her up until the appointment at 8 am. Which, actually, was a lot easier than I even thought it would be. I rented a hotel room for the night because my thoughts were, the shorter the drive, the easier it would be to keep her awake. I think it was a good idea because the roads were TERRIBLE because we were in the middle of a blizzard. In fact, the technician was late because of the roads.
Katha got to the test exhausted, and the technician was having a bad day, I think. Katha was absolutely sure this guy was going to hurt her in some way. So, when he went to measure her head to figure out were to put the wires, she FLIPPED. She broke down in a way I haven't seen her break down in a while. He also only tried for about 2 minutes before he threw his pen and went for help.
The woman he brought back to help him was a godsend because she almost immediately got Katha settled down and got her head measured out and the wires on. However, the guy was still the one to run the test. Katha, still convinced the guy was out to get her, refused to go to sleep. She kept saying that he was just waiting for her to fall asleep to put needles in her head. I felt so bad, but she was not going to listen when I told her she was fine.
Exhaustion finally won out and she fell into a light sleep for about 10 minutes. Then they put on a strobe light and flashed it in her face for about 5 minutes.
After the test we went to see her neurologist. Katha was excited about that part because she loves her neurologist. The test showed that Katha did not have a single sign of having a seizure. Dr. Smyth also told us that she has been doing a lot of research about NPC and found out there's a 50% chance that she will never have a seizure and that's apparently on the pessimistic side.
That news was like a great weight taken off of our shoulders because we were informed that it was just a matter of time until her first seizure. To find out she may never have one?! It was hope where there was none before and that's a wonderful feeling.
Other than that, the doctor noticed she hadn't regressed anymore since our last appointment. Which is also a big deal because she was. I really think the Zavesca is helping. She walks a lot better, and hasn't really fallen in a couple weeks. Although, the day of her test she was so tired that she wasn't doing anything. It was like she was in a trance. You would call her and she would just look through you. It was scary.
Also, the day we went for the test my mom showed me an article in the Stettler paper that my cousin wrote about our experience with the Bashaw Community Theatre. It was amazing. If you have access to a Stettler or Bashaw paper, I highly recommend it. It's all about the benefits of living in a small town and the example of the generosity of the theatre group shown to Katha. It really was an experience I will never forget.
I got an e-mail from the cyclodextrin trial. It was on hold because the FDA was concerned the medicine and the tube that goes into their head is not compatible, but apparently they have resolved that. Hopefully we will know whether or not Katha is in the trial in the next month or so (fingers crossed and lots of prayers).
So, onto her symptoms:
Enlarged liver: Still enlarged
Enlarged spleen: Still enlarged
Ataxia (unsteady gait): That walks on her toes all of the time. However, she is no longer stomping when she walks and hasn't fallen down in a while.
Dysarthria (slurred speech): She still talks really slowly (slower I think) and is still quite hard to understand. However, she seems to be more "with it" and able to communicate what she's thinking more. If your willing to let her take her time to say what she needs to say, she can carry on quite a conversation. But, you have to be very patient.
Dysphagia (trouble swallowing): She still drools, and it happens quite a bit. When she coughs or chokes, it's like she can't cough very hard. I don't know whether she's trying to do that or whether it is a symptom.
Basal Ganglia (holding limbs at awkward positions): I still notice her doing this once in a while, but it's not constant anymore. She also has gained some more small motor skills. She still prefers her drinks in something with a lid because she still has some trouble holding things.
Dementia (memory loss): I thought this was becoming a problem, but recently she has started talking about things that have happened in the past. Which, she wasn't for a while. I think her memory is improving slightly as well.
Seizures: No seizures, hopefully it stay that way!
Sleep related disorders: Katha hasn't been as tired after school when she does go. She has been more alert since starting the Zavesca, but has continued to stay up later than usual.
Gelastic Cataplexy (falling down in response to a large emotional outburst): This has definitely improved. She is able to laugh again! At her appointment the doctor wanted to see it and since she was tired, I thought she might do it, but I couldn't get her to fall. Of course, the next morning while mom and I were giving her a bath, she did it. That was mom's first time seeing it.
Sensitive Touch: Katha has started letting other people touch her again, even if it's just holding her hand or a quick hug. She still doesn't really liked to be hugged by people other than Amory, the boys and I, but she will do it.
Bladder control: This remains to be a problem. It's better when she goes to school, and she doesn't have nearly as many accidents at home anymore but it still happens. Of course, the day of her test she had the worst reaction to the Zavesca I seen her have yet. In fact, I had to stop at home from Calgary to mom's to get more pants because something she ate must have had milk in it. She had 3 accidents because of loose bowels in the hospital but after that she was fine.
Friday, 21 December 2012
Dec. 21, 2012
So, we have now been on Zavesca now over 3 weeks. We picked up the medication at the Children's hospital and discovered there were only 180 pills. That means that this medication was much more than we anticipated. We thank God everyday that it is covered. I have noticed a few changes in Katha, but not a lot. Which the doctor said would be pretty much what would happen.
Christmas is just around the corner, and I think I'm completely ready for it. We had the kids Christmas concert last night and while Katha was up on stage, all I could think was "is this the last Christmas concert she's going to be well enough to be in?" I try not to think of these things too often. It makes me cry.
We had someone come out to make some suggestions for what we will need for renovations to the house for when Katha becomes immobile. They suggested tracks along the roof, a walk-in shower and a lift for the back deck rather than a ramp. They also let us know that the lift alone will cost us $6000. That's installed but without any of the prep work that would have to be done before they could install it. We would have to landscape to raise the ground beneath it 4 inches because the largest lift available is 6 feet, and our deck is 6 feet 4 inches.
We also went to look at how a walk-in shower works. It's kind of awesome. Imagine a walk-in closet turned into a shower, because that's exactly what the one we went to look at was. I think it will be do-able in that room. Which is good.
Amory and I have been talking a lot about the renovations. We are going to start them in the spring hopefully. I told him that I think we shouldn't build a separate room in the basement because I'm sure the boys would rather share a room down there. Also, by the time this is all over, I'm not sure we'll be staying in this house. Too many memories. Amory figures I won't want to move because of all the good memories. I honestly could see it going either way.
Katha has lost all interest in school. It worries me because last year she would cry if I made her stay home because she was sick. This year she cries if I make her go. I spoke with the special needs teacher at Katha's school, and she's going to start going to the special needs classroom for language arts and math. Her principal also told me that she is going to start having an EA full time just for her starting in January. We're hoping to get Katha to start liking school again. Hopefully, then she will start making an effort again.
Katha has also mentioned several times that she has no friends at school and that the kids are too loud there. Her teacher is going to let her wear earphones in class, and when I went to see the special needs teacher Katha wasn't there for more than 2 minutes when a little girl named Emily came up, shook Katha's hand and asked her if she wanted to play. I think the special needs class might be the place for Katha, but I'm going to see if the EA can do something with her in the New Year because I'm pretty sure that if she goes into the special needs class there will be no EA for her.
Anyways, onto the symptoms:
Enlarged liver: According to our last ultrasound, it is slightly enlarged
Enlarged spleen: The same ultrasound revealed the Dr. Khan was right, and it is enlarged quite a bit.
Ataxia (unsteady gait): Katha is slightly more steady on her feet since starting the medication. She hasn't had a bad spill at school for about a week.
Dysarthria (slurred speech): Her speech is still quite slurred. She is very shy about it, so won't talk very loudly because of it. So, when she is in a crowed place ends up yelling because I just can't hear her.
Dysphagia (trouble swallowing): Katha still drools quite a bit, but her eating is still normal.
Basal Ganglia (holding limbs at awkward positions): Since starting the medication Katha's dexterity has been the most notable improved. She isn't dropping things as much, and writing has become a little easier.
Dementia (memory loss): Katha forgets much more than I realised. She has started forgetting certain movies she used to watch all the time, or she won't remember when or where she got a toy. She also struggles to remember certain words.
Seizures: I don't think Katha has had a seizure. She has an EEG on January 10th that will let us know for sure.
Sleep related disorders: Katha has started to stay up really late at night (11 or 12) I don't know if she's trying to go to school or if the medication or disease is effecting her.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Amory thinks this is getting better, I don't. I still see her fall down a lot when she is laughing. Amory swears he can tickle her once in a while now without her falling down. We'll keep an eye on this one.
Sensitive Touch: Katha is still very affectionate with me, and she has been more affectionate with Amory lately. During the Christmas concert the girl behind Katha kept touching her back and you could tell Katha didn't know whether to laugh it off or get mad. I don't know if this had anything to do with it but it made me giggle.
Bladder control: Katha is in a pull-up full time but still makes it to the bathroom regularly. Even with the medications main symptom being loose bowels Katha has yet to have a bad accident because of it.
Hearing Loss: We finally got Katha tested and her hearing is perfectly normal. Now, because of her complaining about loud noises we're worried her hearing might be overly sensitive.
Christmas is just around the corner, and I think I'm completely ready for it. We had the kids Christmas concert last night and while Katha was up on stage, all I could think was "is this the last Christmas concert she's going to be well enough to be in?" I try not to think of these things too often. It makes me cry.
We had someone come out to make some suggestions for what we will need for renovations to the house for when Katha becomes immobile. They suggested tracks along the roof, a walk-in shower and a lift for the back deck rather than a ramp. They also let us know that the lift alone will cost us $6000. That's installed but without any of the prep work that would have to be done before they could install it. We would have to landscape to raise the ground beneath it 4 inches because the largest lift available is 6 feet, and our deck is 6 feet 4 inches.
We also went to look at how a walk-in shower works. It's kind of awesome. Imagine a walk-in closet turned into a shower, because that's exactly what the one we went to look at was. I think it will be do-able in that room. Which is good.
Amory and I have been talking a lot about the renovations. We are going to start them in the spring hopefully. I told him that I think we shouldn't build a separate room in the basement because I'm sure the boys would rather share a room down there. Also, by the time this is all over, I'm not sure we'll be staying in this house. Too many memories. Amory figures I won't want to move because of all the good memories. I honestly could see it going either way.
Katha has lost all interest in school. It worries me because last year she would cry if I made her stay home because she was sick. This year she cries if I make her go. I spoke with the special needs teacher at Katha's school, and she's going to start going to the special needs classroom for language arts and math. Her principal also told me that she is going to start having an EA full time just for her starting in January. We're hoping to get Katha to start liking school again. Hopefully, then she will start making an effort again.
Katha has also mentioned several times that she has no friends at school and that the kids are too loud there. Her teacher is going to let her wear earphones in class, and when I went to see the special needs teacher Katha wasn't there for more than 2 minutes when a little girl named Emily came up, shook Katha's hand and asked her if she wanted to play. I think the special needs class might be the place for Katha, but I'm going to see if the EA can do something with her in the New Year because I'm pretty sure that if she goes into the special needs class there will be no EA for her.
Anyways, onto the symptoms:
Enlarged liver: According to our last ultrasound, it is slightly enlarged
Enlarged spleen: The same ultrasound revealed the Dr. Khan was right, and it is enlarged quite a bit.
Ataxia (unsteady gait): Katha is slightly more steady on her feet since starting the medication. She hasn't had a bad spill at school for about a week.
Dysarthria (slurred speech): Her speech is still quite slurred. She is very shy about it, so won't talk very loudly because of it. So, when she is in a crowed place ends up yelling because I just can't hear her.
Dysphagia (trouble swallowing): Katha still drools quite a bit, but her eating is still normal.
Basal Ganglia (holding limbs at awkward positions): Since starting the medication Katha's dexterity has been the most notable improved. She isn't dropping things as much, and writing has become a little easier.
Dementia (memory loss): Katha forgets much more than I realised. She has started forgetting certain movies she used to watch all the time, or she won't remember when or where she got a toy. She also struggles to remember certain words.
Seizures: I don't think Katha has had a seizure. She has an EEG on January 10th that will let us know for sure.
Sleep related disorders: Katha has started to stay up really late at night (11 or 12) I don't know if she's trying to go to school or if the medication or disease is effecting her.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Amory thinks this is getting better, I don't. I still see her fall down a lot when she is laughing. Amory swears he can tickle her once in a while now without her falling down. We'll keep an eye on this one.
Sensitive Touch: Katha is still very affectionate with me, and she has been more affectionate with Amory lately. During the Christmas concert the girl behind Katha kept touching her back and you could tell Katha didn't know whether to laugh it off or get mad. I don't know if this had anything to do with it but it made me giggle.
Bladder control: Katha is in a pull-up full time but still makes it to the bathroom regularly. Even with the medications main symptom being loose bowels Katha has yet to have a bad accident because of it.
Hearing Loss: We finally got Katha tested and her hearing is perfectly normal. Now, because of her complaining about loud noises we're worried her hearing might be overly sensitive.
Monday, 3 December 2012
Dec. 3/12
So, we have gotten home from our Disneyland. The kids all had a wonderful time and best of all, there were no medical emergencies! I spent most of the bus ride from Anaheim to LA just thanking God for taking care of us on our trip.
Before we left we found out Katha's medication is in. We got a phone call on the Friday before we left asking us for all of our insurance information. The pharmacist let us know that just this batch we're getting is worth $20,000. I haven't heard back from them. So, I'm guessing that the payment when through. She told us if there was a problem she would call back.
Katha had such a great time in Disneyland. Amory and I started calling her "perma-grin" because she just wouldn't stop smiling, which made all of us happy.
We didn't send Dom or Katha to school today. Dom got a cold while we were there because it rained on Friday. He's, of course, milking it for all he can.
I think it kind of shocked Mom and Dad to see Katha having to deal with her illness on an everyday level. Simple things that she could do a few months ago she can no longer do.
The wheelchair was a life-saver. There was no way Katha would have lasted more than a couple hours if we didn't have it. But, if we weren't going to be walking to much (down to a restaurant or something) we would make her walk. Plus, she hasn't touched it since we've gotten home.
We did a journal of the whole trip and I saved whatever I could so the kids could make a scrapbook out of it. I hope this will remind all of them of the trip for years to come.
Before we left we went to Bashaw to see Beauty and The Beast. My cousins Connie and Kristy both had their kids in it.
They heard we were coming and about Katha being sick and really went above and beyond. She not only got a front row seat but they gave her a pillow, a Christmas ornament, programs, a picture book, a bow, a rose, and a t-shirt. She was in seventh heaven. In fact, when we met Belle at our character breakfast she told her that she liked the other Belle better. Luckily, the Disney Belle didn't exactly understand her, lol.
I posted a lot of pictures on my facebook of everything. I still haven't gone through all of Amory's pictures, and he took a lot more than I did.
Auntie Donna and Jenna met us at the airport when we got back. Auntie Donna had even found chocolate chips that are lactose free and made Katha some chocolate chip cookies. She could barely wait until we got home to try one. Her whole face lit up when she took a bite.
We also got an e-mail while we were in California from the NIH. They will be doing the cyclodextrin trials. They are still hoping to start in January, but they are now accepting applicants. From what I got in the e-mail there are a couple things that worry me.
They are putting the 9 patients in groups of 3 and are doing dosages according to the group. So, if in your group the NIH decides they want to up the dosage, you are not allowed to say no. From what I gather, we are going to have to sign something that won't let us back out of testing once we enter.
I have spoken to some other NPC families and from what I gather the NIH doesn't have your kids best interest at heart. In fact, they treat them like lab rats. So, this caused Amory and I to have a very serious discussion on the way home about whether or not we even want to be part of the trial anymore.
After receiving the e-mail I sent it straight to Dr. Khan with the request to be able to see him on Dec. 5th, when we will be down in Calgary for an ultrasound. I haven't heard back from him yet. But, I think we're going to apply but since they are only accepting 9 people and most likely wanting Americans to cut down on expenses, there's little chance we'll get in.
I will re-update after we've been on the Zavesca for a while to see if there's much difference if any on Katha symptoms. So, as of today they are:
Enlarged liver: Same
Enlarged spleen: Still 6cm below her ribcage.
Ataxia (unsteady gait): Katha continues to fall down a lot. The need for a wheelchair is become more and more evident. Luckily, she seems to like the wheelchair, but is still willing to walk if it is not too great of a distance.
Dysarthria (slurred speech): Katha is becoming harder to understand. Unless you are around her a lot, you sometimes have a great difficulty making out what she is trying to say. This causes Katha to not want to talk to strangers a lot. It also causes her great frustration when you have to ask her to repeat herself.
Dysphagia (trouble swallowing): Katha's drooling is becoming more of a problem. But, she still rarely chokes and still has a good appetite.
Basal Ganglia (holding limbs at awkward positions): Katha's finger are often curled and her small motor skills are all but gone because of it. She now asks for a sippy cup rather than a regular cup because she can't hold a cup very well. If she can't get a sippy cup she wants a straw. Her printing (although always sloppy) is almost unreadable now.
Dementia (memory loss): Katha needs a lot of reminders throughout the day. I noticed this most when doing the journal. I would ask her about her day and she simply wouldn't remember. However, when I would remind her what we did that day, she would have a conversation about it.
Seizures: Katha still has not had a seizure and we're hoping to keep it this way for a while.
Sleep related disorders: She often comments on how tired she is. When asked if she wants to go to school she will often say she doesn't want to because she is too tired. I don't know if this is just an excuse or she really is exhausted. Honestly, I think it's a little of both.
Gelastic Cataplexy (falling down in response to a large emotional outburst): The wheelchair was great for this as well. I could finally make her laugh without fear that she would hurt herself. It was great to hear her really laugh again.
Sensitive Touch: We noticed that Katha doesn't really like anyone but me touching her anymore. We wondered if this was because of her increased sensitivity to touch. I worry how long it will be until she doesn't want me touching her anymore either.
Bladder control: Katha was in pull-ups our entire trip but kept them dry most of the time.
Hearing Loss: Dr. Khan should be testing for this very soon but I honestly wonder if it wasn't just my imagination because she seems to hear things I don't think she should be able to.
Before we left we found out Katha's medication is in. We got a phone call on the Friday before we left asking us for all of our insurance information. The pharmacist let us know that just this batch we're getting is worth $20,000. I haven't heard back from them. So, I'm guessing that the payment when through. She told us if there was a problem she would call back.
Katha had such a great time in Disneyland. Amory and I started calling her "perma-grin" because she just wouldn't stop smiling, which made all of us happy.
We didn't send Dom or Katha to school today. Dom got a cold while we were there because it rained on Friday. He's, of course, milking it for all he can.
I think it kind of shocked Mom and Dad to see Katha having to deal with her illness on an everyday level. Simple things that she could do a few months ago she can no longer do.
The wheelchair was a life-saver. There was no way Katha would have lasted more than a couple hours if we didn't have it. But, if we weren't going to be walking to much (down to a restaurant or something) we would make her walk. Plus, she hasn't touched it since we've gotten home.
We did a journal of the whole trip and I saved whatever I could so the kids could make a scrapbook out of it. I hope this will remind all of them of the trip for years to come.
Before we left we went to Bashaw to see Beauty and The Beast. My cousins Connie and Kristy both had their kids in it.
They heard we were coming and about Katha being sick and really went above and beyond. She not only got a front row seat but they gave her a pillow, a Christmas ornament, programs, a picture book, a bow, a rose, and a t-shirt. She was in seventh heaven. In fact, when we met Belle at our character breakfast she told her that she liked the other Belle better. Luckily, the Disney Belle didn't exactly understand her, lol.
I posted a lot of pictures on my facebook of everything. I still haven't gone through all of Amory's pictures, and he took a lot more than I did.
Auntie Donna and Jenna met us at the airport when we got back. Auntie Donna had even found chocolate chips that are lactose free and made Katha some chocolate chip cookies. She could barely wait until we got home to try one. Her whole face lit up when she took a bite.
We also got an e-mail while we were in California from the NIH. They will be doing the cyclodextrin trials. They are still hoping to start in January, but they are now accepting applicants. From what I got in the e-mail there are a couple things that worry me.
They are putting the 9 patients in groups of 3 and are doing dosages according to the group. So, if in your group the NIH decides they want to up the dosage, you are not allowed to say no. From what I gather, we are going to have to sign something that won't let us back out of testing once we enter.
I have spoken to some other NPC families and from what I gather the NIH doesn't have your kids best interest at heart. In fact, they treat them like lab rats. So, this caused Amory and I to have a very serious discussion on the way home about whether or not we even want to be part of the trial anymore.
After receiving the e-mail I sent it straight to Dr. Khan with the request to be able to see him on Dec. 5th, when we will be down in Calgary for an ultrasound. I haven't heard back from him yet. But, I think we're going to apply but since they are only accepting 9 people and most likely wanting Americans to cut down on expenses, there's little chance we'll get in.
I will re-update after we've been on the Zavesca for a while to see if there's much difference if any on Katha symptoms. So, as of today they are:
Enlarged liver: Same
Enlarged spleen: Still 6cm below her ribcage.
Ataxia (unsteady gait): Katha continues to fall down a lot. The need for a wheelchair is become more and more evident. Luckily, she seems to like the wheelchair, but is still willing to walk if it is not too great of a distance.
Dysarthria (slurred speech): Katha is becoming harder to understand. Unless you are around her a lot, you sometimes have a great difficulty making out what she is trying to say. This causes Katha to not want to talk to strangers a lot. It also causes her great frustration when you have to ask her to repeat herself.
Dysphagia (trouble swallowing): Katha's drooling is becoming more of a problem. But, she still rarely chokes and still has a good appetite.
Basal Ganglia (holding limbs at awkward positions): Katha's finger are often curled and her small motor skills are all but gone because of it. She now asks for a sippy cup rather than a regular cup because she can't hold a cup very well. If she can't get a sippy cup she wants a straw. Her printing (although always sloppy) is almost unreadable now.
Dementia (memory loss): Katha needs a lot of reminders throughout the day. I noticed this most when doing the journal. I would ask her about her day and she simply wouldn't remember. However, when I would remind her what we did that day, she would have a conversation about it.
Seizures: Katha still has not had a seizure and we're hoping to keep it this way for a while.
Sleep related disorders: She often comments on how tired she is. When asked if she wants to go to school she will often say she doesn't want to because she is too tired. I don't know if this is just an excuse or she really is exhausted. Honestly, I think it's a little of both.
Gelastic Cataplexy (falling down in response to a large emotional outburst): The wheelchair was great for this as well. I could finally make her laugh without fear that she would hurt herself. It was great to hear her really laugh again.
Sensitive Touch: We noticed that Katha doesn't really like anyone but me touching her anymore. We wondered if this was because of her increased sensitivity to touch. I worry how long it will be until she doesn't want me touching her anymore either.
Bladder control: Katha was in pull-ups our entire trip but kept them dry most of the time.
Hearing Loss: Dr. Khan should be testing for this very soon but I honestly wonder if it wasn't just my imagination because she seems to hear things I don't think she should be able to.
Friday, 9 November 2012
Lots of good news
Since I last updated there has been a lot of good news. First, we found out that Amory's work insurance will cover Katha's medication with no limit. They also don't require us to be reimbursed. Which means the medication that would have cost us $60,000/year according to the doctor is now virtually free to us.
We also got a wheelchair for Katha to use whenever she is walking a long way. Which will be very helpful when we go to Disneyland. We got it from the Lending Cupboard in Red Deer. They allow us to keep it for as long as we need it, and they didn't charge us anything for it.
Dr. Khan when we were in his office told us that kids with NPC often end up dying of pneumonia because their lungs fill up with fluid and their little bodies aren't strong enough to fight it off. When we went to get our flu shots the health nurse mentioned that there is a new pneumococcal shot that protects against 23 strains of pneumonia instead of the 7 Katha originally got. So, we updated that shot. Although, Katha was REALLY not happy with us.
We still cannot find travel insurance for Disneyland, but I think I found a company that will insure us if we get into the cyclodextrin trials.
I also just heard from Dr. Smyth (the neurologist) that they are willing to give us a prescription for a medication we can give Katha if she starts having seizures while we're in the States. It will stop the seizure until we can get back to Canada and have her checked out.
Last, but certainly not least, we completed her evaluation and her cognitive skills are under the first percentile. If she was a normal kid, they should be near the 50th. However, she is currently keeping up to the 25th or 30th percentile in her work. This means that she is working her butt off everyday to do as much as she can and I am so proud of her. What this means for me is that I'm not simply letting her slack off. Which, honestly, is a huge concern of mine because I want to give her as much as I can. Which, includes the best education she can handle.
At the evaluation one of the women mentioned that they have never had someone come in with a fatal diagnosis. She was amazed that I was just like any other mother. I'm not quite sure what she meant, I think she expected me to be a basket case. I feel like that a lot, actually. That people expect me to be a wreck and are shocked when I'm not. Don't get me wrong, I have my moments, but I feel like I've already been dealing with this for 3 months. 3 months ago, I was an absolute wreck every time I was by myself. It took me 2 weeks to be able to look at any of my kids without wanting to break down and cry. But, when she asked me how I was able to be so strong, I told her the truth, it is the incredible support from my family and friends, but also the fact that I know God is giving me strength to get through this.
Honestly, the waiting was a very difficult part. Especially because I didn't want to tell anyone about it until we had a confirmed diagnosis. Now, being able to talk to people about it, that has helped a great deal.
Anyways, onto the symptoms:
Enlarged liver: Same
Enlarged spleen: Still 6cm below her ribcage. (Your spleen should be completely hidden by your ribcage.
Ataxia (unsteady gait): Katha continues to fall down a lot. When speaking with her teacher we both agreed to keep her out of her wheelchair and keep her walking as much as we can.
Dysarthria (slurred speech): She still slurs, and talks slowly. But has been singing and telling more stories, especially about Disneyland.
Dysphagia (trouble swallowing): Katha's drooling is getting worse. She is having trouble drinking out of a regular glass because she can't tilt her head back and because of worsening small motor skills can't hold onto the glass. She is quite happy when given a sippy cup because she can't spill. But, I'm thinking a water bottle with a straw top would work better for her.
Basal Ganglia (holding limbs at awkward positions): Katha dexterity is becoming seriously compromised. She can hardly do any small task anymore and is easily frustrated when she can't. But, really, who can blame her. Her fingers seem like they can't completely close against her hand anymore, which makes handling small objects impossible.
Dementia (memory loss): She simply seems to have a bad memory. New things you try to teach her don't seem to stick around long.
Seizures: She still has not had a seizure. We are going to have the presciption for her neurologist hopefully soon to help deal with this when it does happen.
Sleep related disorders: Katha sleeps 12 hours a night, and still often requires an hour nap during the day.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha falls down a lot because of this. Whenever she scared or happy. The fact that the medication for it has a lot of bad side effects and only works some of the time, this is something we're just going to have to deal with from here on out.
Sensitive Touch: This definitely did not help having to get a needle this week. She hasn't shown as many signs of her sensitive touch this week.
Bladder control: Katha is trying very hard to make sure this does not become a serious issue.
Hearing Loss: Dr. Khan should be testing for this very soon.
We also got a wheelchair for Katha to use whenever she is walking a long way. Which will be very helpful when we go to Disneyland. We got it from the Lending Cupboard in Red Deer. They allow us to keep it for as long as we need it, and they didn't charge us anything for it.
Dr. Khan when we were in his office told us that kids with NPC often end up dying of pneumonia because their lungs fill up with fluid and their little bodies aren't strong enough to fight it off. When we went to get our flu shots the health nurse mentioned that there is a new pneumococcal shot that protects against 23 strains of pneumonia instead of the 7 Katha originally got. So, we updated that shot. Although, Katha was REALLY not happy with us.
We still cannot find travel insurance for Disneyland, but I think I found a company that will insure us if we get into the cyclodextrin trials.
I also just heard from Dr. Smyth (the neurologist) that they are willing to give us a prescription for a medication we can give Katha if she starts having seizures while we're in the States. It will stop the seizure until we can get back to Canada and have her checked out.
Last, but certainly not least, we completed her evaluation and her cognitive skills are under the first percentile. If she was a normal kid, they should be near the 50th. However, she is currently keeping up to the 25th or 30th percentile in her work. This means that she is working her butt off everyday to do as much as she can and I am so proud of her. What this means for me is that I'm not simply letting her slack off. Which, honestly, is a huge concern of mine because I want to give her as much as I can. Which, includes the best education she can handle.
At the evaluation one of the women mentioned that they have never had someone come in with a fatal diagnosis. She was amazed that I was just like any other mother. I'm not quite sure what she meant, I think she expected me to be a basket case. I feel like that a lot, actually. That people expect me to be a wreck and are shocked when I'm not. Don't get me wrong, I have my moments, but I feel like I've already been dealing with this for 3 months. 3 months ago, I was an absolute wreck every time I was by myself. It took me 2 weeks to be able to look at any of my kids without wanting to break down and cry. But, when she asked me how I was able to be so strong, I told her the truth, it is the incredible support from my family and friends, but also the fact that I know God is giving me strength to get through this.
Honestly, the waiting was a very difficult part. Especially because I didn't want to tell anyone about it until we had a confirmed diagnosis. Now, being able to talk to people about it, that has helped a great deal.
Anyways, onto the symptoms:
Enlarged liver: Same
Enlarged spleen: Still 6cm below her ribcage. (Your spleen should be completely hidden by your ribcage.
Ataxia (unsteady gait): Katha continues to fall down a lot. When speaking with her teacher we both agreed to keep her out of her wheelchair and keep her walking as much as we can.
Dysarthria (slurred speech): She still slurs, and talks slowly. But has been singing and telling more stories, especially about Disneyland.
Dysphagia (trouble swallowing): Katha's drooling is getting worse. She is having trouble drinking out of a regular glass because she can't tilt her head back and because of worsening small motor skills can't hold onto the glass. She is quite happy when given a sippy cup because she can't spill. But, I'm thinking a water bottle with a straw top would work better for her.
Basal Ganglia (holding limbs at awkward positions): Katha dexterity is becoming seriously compromised. She can hardly do any small task anymore and is easily frustrated when she can't. But, really, who can blame her. Her fingers seem like they can't completely close against her hand anymore, which makes handling small objects impossible.
Dementia (memory loss): She simply seems to have a bad memory. New things you try to teach her don't seem to stick around long.
Seizures: She still has not had a seizure. We are going to have the presciption for her neurologist hopefully soon to help deal with this when it does happen.
Sleep related disorders: Katha sleeps 12 hours a night, and still often requires an hour nap during the day.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha falls down a lot because of this. Whenever she scared or happy. The fact that the medication for it has a lot of bad side effects and only works some of the time, this is something we're just going to have to deal with from here on out.
Sensitive Touch: This definitely did not help having to get a needle this week. She hasn't shown as many signs of her sensitive touch this week.
Bladder control: Katha is trying very hard to make sure this does not become a serious issue.
Hearing Loss: Dr. Khan should be testing for this very soon.
Wednesday, 31 October 2012
Halloween 2012
So, today was the first doctors appointment with the metabolic specialist. There was lots of good news, and lots of bad news.
First we let Katha, Dom and Jay all wear their Halloween costumes. Katha was Cinderella, Dom was a knight and Jay was a pirate. They looked adorable.
So, we met Dr. Khan and he knows his stuff. Which, is awesome, because lately I've really felt like I knew more about this disease than any of her doctors. Not so with this doctor. I'll try to remember everything we talked about.
1) Treatments:
Zavesca (Miglostat) - We're going to try to put her on this first. The most prevalent side effect is loose bowels to avoid this we have to be on a Lactose free diet for 2 weeks before she is on the medication. The problem with this medication is that it only slightly slows down the effects of the disease. In fact, he said that it probably wouldn't extend her life at all, but possibly slightly raise the quality of life. It will cost between $40,000 - $60,000/ year. He is having a conference call with the drug company tomorrow to see if they would be willing to give us this medication for free.
Bone Marrow Transplant - All this would do is reduce the size of her liver and spleen and because it would have no effect on the brain/blood barrier, would have no impact on her neurological symptoms. In other words, she would go through a lot of pain with little to no result.
Stem Cell Replacement - To find matching cell for Katha, the cells would have to have NPC in them, which would mean we're replacing defective cells with more defective cells. Because this is a genetic disease, we would have to change Katha's genetic make-up. Which, they don't know how to do and won't anytime soon.
Cholesterol Medication - Has been shown to have no impact on NPC at all
Cyclodextrin - By far the most promising drug by far. On animals, it has been shown to actually improve the "patient". I have to get a hold of the National Niemann-Pick to find out if they have more information on the first human trials then the doctor said he would do whatever he could to get her in that trial.
2) The boys - we did not do the blood tests today. The doctor casually mentioned blood work in front of Katha and she had a melt down. So, he is sending the requisition forms to the Lacombe hospital and we'll do the blood work there. Dr. Khan also told us that is it not good to know if the boys are carriers of the disease even if they don't have it themselves. He told us that in families with NPC the symptoms in siblings often follow the same patterns, because the boys don't show any of the symptoms Katha does, chances are they don't have it, but they will still be tested. The problem with knowing that they are carriers is a) insurance companies can use it against them down the road and b) it can be a very heavy emotional burden to know you are a carrier of a deadly disease. Kids that have been told when they are younger that they are carriers have often told their parents later on that they wish they didn't know. So, when we do get the blood test results they will simply tell us whether or not Dom and Jay have NPC, not whether they are carriers.
3) Degeneration Progression - The doctor told us he expects Katha to live 3-5 more years.
4) What do we do now - We start the lactose free diet. Dr. Khan wants an evaluation done to know where she is developmentally now. Also, he wants a psychologist to look at her once a year from now on the see the difference. We will be doing a hearing test, vision test, EEG, abdominal ultrasound, liver function test, and several other tests to see how her body is handling the disease thus far. He wants all these tests completed before Christmas. Apparently she is more prone to infections so we have to be extremely careful around her. All of us will need flu shots, and washing our hands constantly if we are sick. If she so much as spikes a fever, we're to call either Dr. Khan or Dr. Du Plooy (her paediatrician) immediately.
5) Travel - He liked the fact that we are going on a trip to Disneyland. The only concern is that we are virtually waiting for her first seizure and there is a chance that this can happen while we are down there. So, we'll have to avoid rides with flashing lights.
Symptoms:
Enlarged liver: No change
Enlarged spleen: Apparently it's over sized by 6 cm. (Very large)
Ataxia (unsteady gait): We are thinking that we might have to put Katha into a wheelchair a lot sooner than we wanted to. Tonight while trick or treating she fell down 5 or 6 times in the same spot. Her small motor skills are diminishing as well. She often can't hold small objects and drops large ones.
Dysarthria (slurred speech): Katha's speech is getting slower, and she often forgets words. She still stutters a lot too.
Dysphagia (trouble swallowing): Katha continues to eat well, and still drools quite a bit
Basal Ganglia (holding limbs at awkward positions): No change
Dementia (memory loss): Things need to be repeated to Katha several times before she will remember it.
Seizures: Apparently, we're just waiting for her first one, still has not happened.
Sleep related disorders: Katha continues to get exhausted easily. Even after 12 hours of sleep.
Gelastic Cataplexy (falling down in response to a large emotional outburst): This is happening with more frequency
Sensitive Touch: Katha likes to be hugged but still has a hard time just being touched or rubbed on the arm, back or leg.
NEW SYMPTOMS:
Bladder control: Katha no longer seems to be able to control her bladder, we now have to put her in pull-ups all of the time.
Hearing Loss: Katha seems to have trouble hearing us. She almost walked into traffic the other day because she couldn't hear me yelling at her. Her hearing will hopefully be being checked shortly.
First we let Katha, Dom and Jay all wear their Halloween costumes. Katha was Cinderella, Dom was a knight and Jay was a pirate. They looked adorable.
So, we met Dr. Khan and he knows his stuff. Which, is awesome, because lately I've really felt like I knew more about this disease than any of her doctors. Not so with this doctor. I'll try to remember everything we talked about.
1) Treatments:
Zavesca (Miglostat) - We're going to try to put her on this first. The most prevalent side effect is loose bowels to avoid this we have to be on a Lactose free diet for 2 weeks before she is on the medication. The problem with this medication is that it only slightly slows down the effects of the disease. In fact, he said that it probably wouldn't extend her life at all, but possibly slightly raise the quality of life. It will cost between $40,000 - $60,000/ year. He is having a conference call with the drug company tomorrow to see if they would be willing to give us this medication for free.
Bone Marrow Transplant - All this would do is reduce the size of her liver and spleen and because it would have no effect on the brain/blood barrier, would have no impact on her neurological symptoms. In other words, she would go through a lot of pain with little to no result.
Stem Cell Replacement - To find matching cell for Katha, the cells would have to have NPC in them, which would mean we're replacing defective cells with more defective cells. Because this is a genetic disease, we would have to change Katha's genetic make-up. Which, they don't know how to do and won't anytime soon.
Cholesterol Medication - Has been shown to have no impact on NPC at all
Cyclodextrin - By far the most promising drug by far. On animals, it has been shown to actually improve the "patient". I have to get a hold of the National Niemann-Pick to find out if they have more information on the first human trials then the doctor said he would do whatever he could to get her in that trial.
2) The boys - we did not do the blood tests today. The doctor casually mentioned blood work in front of Katha and she had a melt down. So, he is sending the requisition forms to the Lacombe hospital and we'll do the blood work there. Dr. Khan also told us that is it not good to know if the boys are carriers of the disease even if they don't have it themselves. He told us that in families with NPC the symptoms in siblings often follow the same patterns, because the boys don't show any of the symptoms Katha does, chances are they don't have it, but they will still be tested. The problem with knowing that they are carriers is a) insurance companies can use it against them down the road and b) it can be a very heavy emotional burden to know you are a carrier of a deadly disease. Kids that have been told when they are younger that they are carriers have often told their parents later on that they wish they didn't know. So, when we do get the blood test results they will simply tell us whether or not Dom and Jay have NPC, not whether they are carriers.
3) Degeneration Progression - The doctor told us he expects Katha to live 3-5 more years.
4) What do we do now - We start the lactose free diet. Dr. Khan wants an evaluation done to know where she is developmentally now. Also, he wants a psychologist to look at her once a year from now on the see the difference. We will be doing a hearing test, vision test, EEG, abdominal ultrasound, liver function test, and several other tests to see how her body is handling the disease thus far. He wants all these tests completed before Christmas. Apparently she is more prone to infections so we have to be extremely careful around her. All of us will need flu shots, and washing our hands constantly if we are sick. If she so much as spikes a fever, we're to call either Dr. Khan or Dr. Du Plooy (her paediatrician) immediately.
5) Travel - He liked the fact that we are going on a trip to Disneyland. The only concern is that we are virtually waiting for her first seizure and there is a chance that this can happen while we are down there. So, we'll have to avoid rides with flashing lights.
Symptoms:
Enlarged liver: No change
Enlarged spleen: Apparently it's over sized by 6 cm. (Very large)
Ataxia (unsteady gait): We are thinking that we might have to put Katha into a wheelchair a lot sooner than we wanted to. Tonight while trick or treating she fell down 5 or 6 times in the same spot. Her small motor skills are diminishing as well. She often can't hold small objects and drops large ones.
Dysarthria (slurred speech): Katha's speech is getting slower, and she often forgets words. She still stutters a lot too.
Dysphagia (trouble swallowing): Katha continues to eat well, and still drools quite a bit
Basal Ganglia (holding limbs at awkward positions): No change
Dementia (memory loss): Things need to be repeated to Katha several times before she will remember it.
Seizures: Apparently, we're just waiting for her first one, still has not happened.
Sleep related disorders: Katha continues to get exhausted easily. Even after 12 hours of sleep.
Gelastic Cataplexy (falling down in response to a large emotional outburst): This is happening with more frequency
Sensitive Touch: Katha likes to be hugged but still has a hard time just being touched or rubbed on the arm, back or leg.
NEW SYMPTOMS:
Bladder control: Katha no longer seems to be able to control her bladder, we now have to put her in pull-ups all of the time.
Hearing Loss: Katha seems to have trouble hearing us. She almost walked into traffic the other day because she couldn't hear me yelling at her. Her hearing will hopefully be being checked shortly.
Friday, 26 October 2012
10/26/12
So, the call finally came. She has tested positive for NPC. It's not a big surprise. It would have been more shocking to have it come out negative.
On October 31 we as a family are heading to the children's hospital in Calgary to test Amory, Jarrome, Dominik and I for the mutations in Katha's genes. If both mutations are from either Amory or from me then it wouldn't actually be NPC. But, the doctor says that since she has almost all of the symptoms, it's just a formality to cover the doctors butts.
We're testing the boys because we want to be sure that they don't have it as well and are just not showing symptoms yet.
We found out October 24, 2012 at 3:30 p.m. I don't think I'll ever be able to forget that date and time. Afterwards, I immediately called my mom, and later that night we went over to discuss everything that was going through Amory and my head.
One of the things we started to think about was how were going to have to move. Amory wants to build but I don't know if that's such a smart idea. The reason we have to move is because with my back I won't be able to carry Katha up the stairs, so we'll need a bungalow home. I'm worried if we build that we won't have the house we need before Katha needs to be carried.
We also talked a lot about treatments at mom and dad's. We're hoping to get on the cyclodextrin trial, but that would probably mean having to go to Maryland a lot. Also, with the Zavesca the main side effect is loose bowel movements. This would probably mean that Katha would have to wear a diaper to school. I cringe thinking about the first day she has a huge accident at school. She will be devastated, but other than taking her out of school now even though she can absolutely still go, I don't see how I can prevent this from happening.
I explained to her tonight that mommy was wrong all the times I got mad at her for not going to the bathroom on time. I told her it's not her fault and that it's because she's sick, and I promised her I would never get mad at her again for not making it to the bathroom, but she still has to try. But, I also explained that she has to tell the teacher if she's had an accident. I think she gets it now, I hope so.
I told her that eventually she is going to have to wear a diaper all the time because that's what this sickness is going to do to her. I asked her if she remembered having to ride in a wheelchair after her MRI, she did and she thought it was fun. I told her that's good, because you're going to need one so you don't fall down all the time.
After discussing all of these heavy topics, mom and dad told us that they want to take us to Disneyland right away. We're leaving Nov. 26, one month from today. I had to drive to Calgary today to get the boys some passports.
So, here is where Katha is with her symptoms:
Enlarged liver: It's still the right size, she just had blood work done, and has an ultrasound booked for Nov. 15 to see how it's functioning.
Enlarged spleen: Still slightly enlarged
Ataxia (unsteady gait): Katha's walk continues to get worse. It is by far the most noticeable symptom about her. It causes her to fall 2-3 times a day. We plan to start putting her in a wheelchair if she has to walk long distances. I'm going to start researching where I can get a wheelchair from a health clinic.
Dysarthria (slurred speech): It's definitely slowing down. You can actually watch her trying to get the words out of her mouth, they just won't come. She will sometimes stutter when she is really tired as well.
Dysphagia (trouble swallowing): She drools more, but still is eating very regularly and large amounts. In other words, she still loves her food, and I thank God for that.
Basal Ganglia (holding limbs at awkward positions): She still only does this when concentrating hard on something else or really tired.
Dementia (memory loss): You have to repeat things to Katha several times before she remembers it, but still doesn't seem a huge problem yet.
Seizures: Katha still has not had a seizure.
Sleep related disorders: Katha comes home with very little energy and often is exhausted. I spoke to her teacher about this today and she is willing to let Katha take a small pillow and blanket to school so that she can have a nap if needed.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Almost every time she laughs she falls down. We no longer have to tickle her, it can happen whenever she's happy.
Sensitive Touch: She still has trouble touching fuzzy things but still very much enjoys hugs and cuddles whenever she can get them. She is often very ticklish in the most unlikely places (between her shoulder blades).
On October 31 we as a family are heading to the children's hospital in Calgary to test Amory, Jarrome, Dominik and I for the mutations in Katha's genes. If both mutations are from either Amory or from me then it wouldn't actually be NPC. But, the doctor says that since she has almost all of the symptoms, it's just a formality to cover the doctors butts.
We're testing the boys because we want to be sure that they don't have it as well and are just not showing symptoms yet.
We found out October 24, 2012 at 3:30 p.m. I don't think I'll ever be able to forget that date and time. Afterwards, I immediately called my mom, and later that night we went over to discuss everything that was going through Amory and my head.
One of the things we started to think about was how were going to have to move. Amory wants to build but I don't know if that's such a smart idea. The reason we have to move is because with my back I won't be able to carry Katha up the stairs, so we'll need a bungalow home. I'm worried if we build that we won't have the house we need before Katha needs to be carried.
We also talked a lot about treatments at mom and dad's. We're hoping to get on the cyclodextrin trial, but that would probably mean having to go to Maryland a lot. Also, with the Zavesca the main side effect is loose bowel movements. This would probably mean that Katha would have to wear a diaper to school. I cringe thinking about the first day she has a huge accident at school. She will be devastated, but other than taking her out of school now even though she can absolutely still go, I don't see how I can prevent this from happening.
I explained to her tonight that mommy was wrong all the times I got mad at her for not going to the bathroom on time. I told her it's not her fault and that it's because she's sick, and I promised her I would never get mad at her again for not making it to the bathroom, but she still has to try. But, I also explained that she has to tell the teacher if she's had an accident. I think she gets it now, I hope so.
I told her that eventually she is going to have to wear a diaper all the time because that's what this sickness is going to do to her. I asked her if she remembered having to ride in a wheelchair after her MRI, she did and she thought it was fun. I told her that's good, because you're going to need one so you don't fall down all the time.
After discussing all of these heavy topics, mom and dad told us that they want to take us to Disneyland right away. We're leaving Nov. 26, one month from today. I had to drive to Calgary today to get the boys some passports.
So, here is where Katha is with her symptoms:
Enlarged liver: It's still the right size, she just had blood work done, and has an ultrasound booked for Nov. 15 to see how it's functioning.
Enlarged spleen: Still slightly enlarged
Ataxia (unsteady gait): Katha's walk continues to get worse. It is by far the most noticeable symptom about her. It causes her to fall 2-3 times a day. We plan to start putting her in a wheelchair if she has to walk long distances. I'm going to start researching where I can get a wheelchair from a health clinic.
Dysarthria (slurred speech): It's definitely slowing down. You can actually watch her trying to get the words out of her mouth, they just won't come. She will sometimes stutter when she is really tired as well.
Dysphagia (trouble swallowing): She drools more, but still is eating very regularly and large amounts. In other words, she still loves her food, and I thank God for that.
Basal Ganglia (holding limbs at awkward positions): She still only does this when concentrating hard on something else or really tired.
Dementia (memory loss): You have to repeat things to Katha several times before she remembers it, but still doesn't seem a huge problem yet.
Seizures: Katha still has not had a seizure.
Sleep related disorders: Katha comes home with very little energy and often is exhausted. I spoke to her teacher about this today and she is willing to let Katha take a small pillow and blanket to school so that she can have a nap if needed.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Almost every time she laughs she falls down. We no longer have to tickle her, it can happen whenever she's happy.
Sensitive Touch: She still has trouble touching fuzzy things but still very much enjoys hugs and cuddles whenever she can get them. She is often very ticklish in the most unlikely places (between her shoulder blades).
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