So, a few things have happened since I last posted. Katha is doing well, and we are really grateful for that. We are worried, however, that seizures have started, kind of. Most people know seizures from what they show in movies and television. Someone falls on the floor and "shakes" for the lack of a better word. Well, that's not what Katha is doing at all. We think she is having "absence seizures". Which is when someone kind of spaces out. The difference between a seizure and someone in la la land, is that you can't bring someone in a seizure out of it.
Katha will "space out" for a few seconds and you can't call her back. I'm not overly worried yet because they don't seem to have any lasting effect. Afterwards she gets really tired and sometimes will complain of a headache, but she is still doing well developmentally.
We have also done the applications so that we can get some respite care when we will need it. After Christmas, we can start looking for a nurse who would be willing to help us out maybe once a week. They will also come in and help me bathe her because it is getting harder. Katha has a hard time getting in and out of the bath, and with my back it's hard for me to lift her in and out all of the time. She also has trouble getting in and out of the vehicle.
Last night was a long one, which is why I decided to post. For the last month at least Katha hasn't had any vertigo which has been a real blessing. However, last night as I was putting her to bed she had one of the worst ones yet, and kept screaming that she couldn't breathe. After waking up several times last night grunting (I think she may have been having seizures but by the time I got there she was sleeping again) she woke up vomiting and with a headache. Now she is afraid to go back to bed.
So, with the all of this happening Amory and I have decided to really make it our goal to get her back to Disneyworld one last time in September while she still can. She lights up on vacation and we just want to be able to do that with her one last time.
Her assessment is finally getting done in the new year, which is great because we will be able to know for sure if these episodes are having any effect of her developmentally.
Well, onto the symptoms:
Enlarged Liver and Spleen: Still the same as far as I know.
Dysarthria (slurred speech): I only catch about 75% of what Katha is saying, but can usually figure out what she is trying to say from that.
Dysphagia (trouble swallowing): Well, as I was getting an up close look at her stomach contents this morning I was noticing she has been eating a lot of food that is easy to swallow and she doesn't need to chew much (which she doesn't!) TMI, I know.
Basal Ganglia (holding limbs at awkward positions): The more tired, or the harder Katha is trying to walk, the more her arm goes almost behind her.
Dementia (memory loss): Katha gets confused easily and forgets quite a bit. The other day she was having a really bad memory day and forgot where the seat belt is in the car. Luckily, she is an easy going child and doesn't get easily frustrated from forgetting things she ought to know.
Seizures: As I mentioned above, we believe these have started.
Gelastic Cataplexy (falling down in response to a large emotional outburst): We try not to make Katha laugh when she's standing anymore. It's a guaranteed fall. Oreo scared her the other day and she took a pretty rough fall. I was actually scared from the way she fell that she might have broken her wrist. So, when she got up I asked if anywhere hurt, she pointed at the very tip of her finger and with a cry said "here". My response was, you're fine, carry on, and she did.
Sleep related disorders: Katha still has trouble getting to sleep but not having a set time she has to get up helps tremendously. On days she has to be up at a certain time (doc appointments, etc.) it is generally not a good day.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): It is best just to assume at this point, Katha can no longer look up. However, she can on her good days. She will also complain fairly often that she "can't see". I believe her vision is starting to fade in and out. Her EA noticed this too. The other day Katha had to find her wheelchair by sound because it seemed she couldn't see at all.
Medication: We still haven't been cut off. The drug company in the states recently tried to cut all the Americans off their drug program but the NIH (National Institute of Health) got involved and had the drug company change it's mind. Hopefully, that makes the |Canadian chapter think about not cutting us Canadians off too!
Thank you everyone for all of your prayers and support. I really do appreciate all of it. I'm always so amazed at people's kindness and generosity!
Monday 22 December 2014
Sunday 19 October 2014
October 19, 2014
So, not too much to update everyone on. Katha is continuing to do well since starting school. She sleeps most of her weekends away but she likes getting out as well.
On October 14, we went to a Neurologist appointment. Everything was great, it was really just a catch up to see how she is doing. As the doctor said, if Katha was to have a seizure sometime in the next few months, it's good to know how she was fairly recently.
We have recently applied for respite care (even though the forms were sent to me back in April, bad mom!). We should hear about that soon.
Katha is sticking to the wheelchair pretty consistently outside of the house. However, at home, we are thankfully keeping her out of the wheelchair. She needs help in and out of the van and bathtub now. So, I'm starting to have to lift her more.
As far as getting to and from school is going, it's going well. Every Wednesday is hot lunch day and they let Katha hand it out to her class. Even though I have explained that if we are at school at 10 like usually Katha is still up and raring to go at 7:30. We have even beat the teacher to school a couple times on Wednesdays.
So, onto the symptoms:
Enlarged Liver and Spleen: No Change.
Dysarthria (slurred speech): Katha is hard to understand most days but she still insists on telling stories. So, even if I don't understand everything she is saying, I enjoy the fact that at least she is still trying.
Dysphagia (trouble swallowing): Katha is almost guaranteed to choke at least once a day. But, she isn't needing help recovering from it yet.
Basal Ganglia (holding limbs at awkward positions): It can be awkward to hold Katha's hand as she walks because of the way she is holding her arm. Her limbs are quite weak, though, so it's definitely best to use the wheelchair whenever possible. If for some reason we have to leave it behind and she falls down, she is quick to tell me how this is "ALL MY FAULT!" (She may be losing the ability to walk and talk but she sure hasn't lost her attitude, ha ha)
Dementia (memory loss): Katha often forgets what day it is (unless it's Wednesday or Friday). She often refers to things that happened months ago as going to happen any day now. She can get quite confused, but can easily be distracted if it starts to upset her.
Seizures: Still no seizures!
Gelastic Cataplexy (falling down in response to a large emotional outburst): As I told the neurologist, Katha laughs and we dive. We were offered medication for this again, but I turned it down again. I worry about the side effects and the fact there will be a day when she will be taking an outrageous number of pills. I want to hold that day off as long as possible. Plus, as long as she is in her wheelchair, this isn't really an issue as she just slumps in her wheelchair for a second.
Sleep related disorders: Katha has been having trouble getting to sleep again, but she wakes up just fine. Often coming out of her room as I get the boys on the bus at 7:30.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): You don't realise how often you need to look up until you can't. Katha hasn't looked up in a while. She still gets very upset if she is asked to lay on her back or tilt her head back. I really think these two things are related.
Medication: I haven't heard anything from anyone other than to refill the prescription. I'm taking it as no news is good news. A friend on facebook sent me a link to a charity that helps people with these kinds of things when no other funding is available. If push comes to shove, I may have to go that route eventually.
On October 14, we went to a Neurologist appointment. Everything was great, it was really just a catch up to see how she is doing. As the doctor said, if Katha was to have a seizure sometime in the next few months, it's good to know how she was fairly recently.
We have recently applied for respite care (even though the forms were sent to me back in April, bad mom!). We should hear about that soon.
Katha is sticking to the wheelchair pretty consistently outside of the house. However, at home, we are thankfully keeping her out of the wheelchair. She needs help in and out of the van and bathtub now. So, I'm starting to have to lift her more.
As far as getting to and from school is going, it's going well. Every Wednesday is hot lunch day and they let Katha hand it out to her class. Even though I have explained that if we are at school at 10 like usually Katha is still up and raring to go at 7:30. We have even beat the teacher to school a couple times on Wednesdays.
So, onto the symptoms:
Enlarged Liver and Spleen: No Change.
Dysarthria (slurred speech): Katha is hard to understand most days but she still insists on telling stories. So, even if I don't understand everything she is saying, I enjoy the fact that at least she is still trying.
Dysphagia (trouble swallowing): Katha is almost guaranteed to choke at least once a day. But, she isn't needing help recovering from it yet.
Basal Ganglia (holding limbs at awkward positions): It can be awkward to hold Katha's hand as she walks because of the way she is holding her arm. Her limbs are quite weak, though, so it's definitely best to use the wheelchair whenever possible. If for some reason we have to leave it behind and she falls down, she is quick to tell me how this is "ALL MY FAULT!" (She may be losing the ability to walk and talk but she sure hasn't lost her attitude, ha ha)
Dementia (memory loss): Katha often forgets what day it is (unless it's Wednesday or Friday). She often refers to things that happened months ago as going to happen any day now. She can get quite confused, but can easily be distracted if it starts to upset her.
Seizures: Still no seizures!
Gelastic Cataplexy (falling down in response to a large emotional outburst): As I told the neurologist, Katha laughs and we dive. We were offered medication for this again, but I turned it down again. I worry about the side effects and the fact there will be a day when she will be taking an outrageous number of pills. I want to hold that day off as long as possible. Plus, as long as she is in her wheelchair, this isn't really an issue as she just slumps in her wheelchair for a second.
Sleep related disorders: Katha has been having trouble getting to sleep again, but she wakes up just fine. Often coming out of her room as I get the boys on the bus at 7:30.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): You don't realise how often you need to look up until you can't. Katha hasn't looked up in a while. She still gets very upset if she is asked to lay on her back or tilt her head back. I really think these two things are related.
Medication: I haven't heard anything from anyone other than to refill the prescription. I'm taking it as no news is good news. A friend on facebook sent me a link to a charity that helps people with these kinds of things when no other funding is available. If push comes to shove, I may have to go that route eventually.
Monday 1 September 2014
Sept. 1/14
Okay, so it's been a while. But, that's a good thing! Summer was awesome. Katha slept most of July, and that is not an exaggeration. There was one point where she slept 2 days straight. She would only get out of bed to eat and then it was straight back.
However, August rolled around and we went to Montana like we do every year. It was amazing to see the transformation of my little girl the moment we arrived. She started talking more, and getting involved in what was going on. She's walking straighter and doesn't fall down immediately when she laughs.
But let's go back. Katha made a new friend this summer. Her name is Clover. She is a doll from Bamboletta Dolls. My cousin Karen saw that they were giving away blessing dolls for kids who deserve them and she nominated Katha. Katha and Clover have been inseparable ever since Clover arrived in the mail. It was great for July because Clover slept beside her all the time. In fact, Katha is quite protective of Clover and won't let anyone else touch her.
So, after sleeping most of July, we went to Montana and the difference was amazing. She came alive, which leads me to believe that we should just constantly vacation, you know, for Katha's sake (ha ha!)
Then, last night we finally went to see Katy Perry. Katha watched the whole thing very intently. I didn't think it was too loud but she pulled out the earplugs I had brought and asked me to put them in. Which worked out, because if I had tried without her consent, I'm pretty sure it would have been a fight.
After a little while she said it was too bright and wanted to leave. Luckily, I had brought her sunglasses because I was worried how the light would affect her. So, I gave them to her and she sat through the rest of the performance.
So far, the response has been the concert was okay. I think maybe we should stick to movies. Don't get me wrong, Katy Perry puts on a fantastic show! I just don't think concerts are Katha's cup of tea. They are too over whelming for her. But, she was the coolest dude at the concert.
There were a couple times that I was moved to tears during the show. Katha, after months of getting mad whenever I so much as try to brush her hair out of her eyes reached over and held my hand during the concert. It was such a small gesture, but it meant a lot. Knowing that this would probably be the only time I would have an opportunity like this with my little girl was amazing. So, even if Katha wasn't overly impressed, it will be a night I cherish for the rest of my life.
The Rexall Place staff was amazing. Twice we were led to the front of the line. First to get into the building and again to get Katha a t-shirt. Both lines would have taken us at least an hour. Also, when we got inside, I found a staff member who led us directly to our seats.
Of course, I got lost getting to Rexall Place but once I figured out that Google will talk you through driving directions on your phone, I was fine. It was even better finding my way out of Edmonton. I'm sorry people of Edmonton, but your roads have an identity crisis. You stay on the same road and it goes by 3 different names after driving on it for 10 minutes and your exits are confusing and I suck, lol!
So, onto the symptoms:
Enlarged Liver and Spleen: No change that I know of.
Ataxia (unsteady gait): This changes quite a bit. Some days she runs, some days she can't walk straight at all. Right now, it seems she walking pretty darn straight and will often walk long distances instead of using her wheelchair. But she is going to start using her wheelchair all the time at school because she can't look up to use the walker but it's too hard to navigate the halls full of kids by herself.
Dysarthria (slurred speech): Katha loves to tell stories, but is really hard to understand. I miss a lot of what she says and I'm the best at understanding her because I spend the most time with her. We are happy to say that we are getting her EA back this year which is wonderful and Katha is actually looking forward to school and it's all because of that wonderful woman!
Dysphagia (trouble swallowing): Katha chokes and doesn't have a strong cough. It almost sounds like she faking, but she isn't. It's like she wants to cough but simply doesn't have the muscle strength to do it. But, she manages and it hasn't slowed down her eating.
Basal Ganglia (holding limbs at awkward positions): She does do this still but I haven't noticed it as much.
Dementia (memory loss): Katha gets confused quite a bit. In July we went swimming a lot at the new Abbey Centre down the road. One day while we were there we saw her best friend from school. Katha didn't recognise her and was a little upset that some strange girl was hugging her and following us around. The amazing part was she just kept hanging out with us until Katha decided she was alright. That little girl is fantastic! Her parents deserve a medal for raising a little girl that is so amazing!
Seizures: Still seizure free.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha has improved on this slightly. She catches herself again! You can see it start to happen and she will try to find a seat as fast as possible.
Sleep related disorders: Katha has been sleeping sound for the first time in a long time. The other night we forgot to change her before she went to sleep. I was able to change her without her waking up. Usually, I can't even open the door without her waking up.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): She can't look up and still gets panicked having to move her head up to look up.
Medication: We have received calls from both the metabolic doctor and the drug program that they are trying to find a different program that will pay for our medication through the government. I am expecting to get cut off for a while very soon. Which causes some panic, but the drug program that we are on right now are still promising not to cut us off until something else is in place. Hopefully, they stick to this promise.
However, August rolled around and we went to Montana like we do every year. It was amazing to see the transformation of my little girl the moment we arrived. She started talking more, and getting involved in what was going on. She's walking straighter and doesn't fall down immediately when she laughs.
But let's go back. Katha made a new friend this summer. Her name is Clover. She is a doll from Bamboletta Dolls. My cousin Karen saw that they were giving away blessing dolls for kids who deserve them and she nominated Katha. Katha and Clover have been inseparable ever since Clover arrived in the mail. It was great for July because Clover slept beside her all the time. In fact, Katha is quite protective of Clover and won't let anyone else touch her.
So, after sleeping most of July, we went to Montana and the difference was amazing. She came alive, which leads me to believe that we should just constantly vacation, you know, for Katha's sake (ha ha!)
Then, last night we finally went to see Katy Perry. Katha watched the whole thing very intently. I didn't think it was too loud but she pulled out the earplugs I had brought and asked me to put them in. Which worked out, because if I had tried without her consent, I'm pretty sure it would have been a fight.
After a little while she said it was too bright and wanted to leave. Luckily, I had brought her sunglasses because I was worried how the light would affect her. So, I gave them to her and she sat through the rest of the performance.
So far, the response has been the concert was okay. I think maybe we should stick to movies. Don't get me wrong, Katy Perry puts on a fantastic show! I just don't think concerts are Katha's cup of tea. They are too over whelming for her. But, she was the coolest dude at the concert.
There were a couple times that I was moved to tears during the show. Katha, after months of getting mad whenever I so much as try to brush her hair out of her eyes reached over and held my hand during the concert. It was such a small gesture, but it meant a lot. Knowing that this would probably be the only time I would have an opportunity like this with my little girl was amazing. So, even if Katha wasn't overly impressed, it will be a night I cherish for the rest of my life.
The Rexall Place staff was amazing. Twice we were led to the front of the line. First to get into the building and again to get Katha a t-shirt. Both lines would have taken us at least an hour. Also, when we got inside, I found a staff member who led us directly to our seats.
Of course, I got lost getting to Rexall Place but once I figured out that Google will talk you through driving directions on your phone, I was fine. It was even better finding my way out of Edmonton. I'm sorry people of Edmonton, but your roads have an identity crisis. You stay on the same road and it goes by 3 different names after driving on it for 10 minutes and your exits are confusing and I suck, lol!
So, onto the symptoms:
Enlarged Liver and Spleen: No change that I know of.
Ataxia (unsteady gait): This changes quite a bit. Some days she runs, some days she can't walk straight at all. Right now, it seems she walking pretty darn straight and will often walk long distances instead of using her wheelchair. But she is going to start using her wheelchair all the time at school because she can't look up to use the walker but it's too hard to navigate the halls full of kids by herself.
Dysarthria (slurred speech): Katha loves to tell stories, but is really hard to understand. I miss a lot of what she says and I'm the best at understanding her because I spend the most time with her. We are happy to say that we are getting her EA back this year which is wonderful and Katha is actually looking forward to school and it's all because of that wonderful woman!
Dysphagia (trouble swallowing): Katha chokes and doesn't have a strong cough. It almost sounds like she faking, but she isn't. It's like she wants to cough but simply doesn't have the muscle strength to do it. But, she manages and it hasn't slowed down her eating.
Basal Ganglia (holding limbs at awkward positions): She does do this still but I haven't noticed it as much.
Dementia (memory loss): Katha gets confused quite a bit. In July we went swimming a lot at the new Abbey Centre down the road. One day while we were there we saw her best friend from school. Katha didn't recognise her and was a little upset that some strange girl was hugging her and following us around. The amazing part was she just kept hanging out with us until Katha decided she was alright. That little girl is fantastic! Her parents deserve a medal for raising a little girl that is so amazing!
Seizures: Still seizure free.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha has improved on this slightly. She catches herself again! You can see it start to happen and she will try to find a seat as fast as possible.
Sleep related disorders: Katha has been sleeping sound for the first time in a long time. The other night we forgot to change her before she went to sleep. I was able to change her without her waking up. Usually, I can't even open the door without her waking up.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): She can't look up and still gets panicked having to move her head up to look up.
Medication: We have received calls from both the metabolic doctor and the drug program that they are trying to find a different program that will pay for our medication through the government. I am expecting to get cut off for a while very soon. Which causes some panic, but the drug program that we are on right now are still promising not to cut us off until something else is in place. Hopefully, they stick to this promise.
Tuesday 27 May 2014
May 27, 2014
Wow, I suck at keeping this blog updated. So much has happened since the last I updated.
First, we have been working a lot more with the talker. We had to take back the attachment that held the talker to the walker. It is very heavy and Katha has a lot of difficulty carrying back and forth to school. So, since we mostly understand her at home, she takes it to school on Monday and brings it back home on Fridays. I haven't done anymore voice recording. Honestly, I think I missed my window of opportunity.
Then, we finally got her wheelchair. The people that ordered it didn't realise that they needed to order the seat cushion separately, so that was a bit of a headache. But, we got it all figured out.
We use the wheelchair every time we are out now. Katha can still walk fairly well. Usually, she needs assistance so optimally she would be using a walker. However, she can't look up to see where she is going. She has been running into people with the walker so it's easier to use the wheelchair. She has figured out how to move herself around in the wheelchair but still runs people over because turning is tricky. So, we generally only let her wheel herself around in open areas. Although, she does like to take off on me if I'm not watching her closely. Of course, she's giggling the entire time she's "running" away.
We had the opportunity to go on a very special tour of a fire station through my cousin Scott. It was awesome and no ordinary tour. He brought little fire man uniforms for the boys and all of the kids got to spray the hose, sit on the ladder from the ladder truck (Katha was too scared to), sit in the engine and an ambulance. Jarrome, who has recently decided to become a fireman, had an absolute blast and has reaffirmed that this will be his life's passion. It was an amazing experience that we will not forget. Katha even let Scott hold her hand and push her wheelchair. This is a big deal because she rarely let Amory hold her hand anymore.
Over the past few months I have been noticing Jarrome getting more and more clumsy. Of course, every time he falls down, my heart plummets and I go into panic mode. I was doing alright thinking that I am just being overly paranoid until he had a pretty big accident and ended up getting glass in his eye.
One of my first thoughts after this accident was "shouldn't he have had the reaction time to close his eye before the glass got in it?" So, I called up Katha's doctor in Calgary who already took Jarrome's blood and asked him if it would be worthwhile to run the test on Jarrome and he agreed. They informed me the test would take 3 months.
Yesterday, we had a doctors appointment. When we got there the nurse immediately told me that Jarrome's test results are in, but she is not allowed to give me the results. The doctor's visit was about an hour long (I'll get more into what was discussed in a minute) and I watched him flip by the results at least four times. Each time I wanted to snap the letter out of his hands and read it for myself but thought better of it. Finally, at the end of the appointment, as he was closing up the file, I asked about Jarrome's results.
That's when he remembered(!) that he still hadn't talked about that and told me that the results came back negative. He does have one of the mutations but that only makes him a carrier. When he is older and wants to get married, they can test his wife for mutations and that way they can be fore-warned if their children are at risk for NPC. From what I understand from the doctor, if they are, the doctors can actually genetically engineer the baby to ensure that the kid won't get NPC and it will all be covered through Alberta Health because of the risk to the baby. I could be wrong, but that's how I understood it.
So, after the appointment, I went out to where my mom, my aunt, Dom and Jay were waiting. I called Jay over and after some coaxing gave him a HUGE hug and with tears rolling down my face told him he wasn't sick. He didn't understand and couldn't care less but I looked over at my Aunt and my mom and both of them were crying too. We were sitting there crying and hugging when the nurse came out and shouted "Happy Day!" Then informed us there were still more people to see.
So, back to how Katha has been. Since March I have watched Katha slowly slip down a gradual decline. She has been so tired that as soon as she gets home from school, she goes straight to bed and would stay there the entire weekend if I would let her. When we do go out she can barely handle getting through church and going out for a meal before she's begging to go home to bed. As you can imagine, it has worried me to no end.
About 3 weeks ago, Katha got really sick and has hardly spent any time at school. She slept pretty constantly for the first week or so. Then, all of the sudden, she perked up in a way I haven't seen in months. She goes outside and jumps on the trampoline, she plays with her brothers and for the first time since we got him almost a year ago, she actually played with Oreo. It has been amazing! People are starting to understand her again!
Of course, this got me thinking that maybe we are too worried that she is getting to school. Even though Katha uses the wheelchair a lot at home, she is still using the walker at school. So, even before this revelation that Katha needs more sleep, I was starting to figure out that she is going to need to be transported in her wheelchair next year.
I got on the phone with the handi-bus to find out if I would have to send the boys and Katha separately next year or if they would be allowed to take the handi-bus with Katha to school. To my shock, the bus doesn't come out to our town that early in the morning because it is too busy and no one else near us needs a ride that early in the morning. So, they are unwilling to even come get Katha. Which means, I will have to drive her myself next year to and from school.
However, since realising Katha just needs more sleep I have come up with a plan with the school to send the boys on the bus, and bring Katha in around 10:00, which then allows her a little extra sleep. She rarely sleeps past 8 o'clock so this would allow her just a little time to relax in the mornings rather than being rushed and becoming discombobulated. Which, to Katha is a HUGE deal.
Her doctor yesterday seemed almost outraged that the handi-bus refused to come pick her up but I reassured him that I believe that this is a best-case scenario for all involved.
When discussing this with the school I also found out that Katha's EA has to end school early for personal reasons. We were heartbroken because Katha's EA is a tremendous woman who Katha loves dearly (even with the rocky start at the beginning of the school year). However, it has been brought to our attention that there is a very good chance that she will be able to return again next year to be Katha's EA again.
We could not be happier with this news. As I said above, we just love her and she treats Katha the same way I do. She compassionate and loving but she doesn't put up with Katha's attitude and temper tantrums either. Katha gets that stability that she so desperately needs! It is absolutely prayers answered.
Katha has gotten a few more nosebleeds so the doctor ordered some tests to do a platelet count to find out if it is just a side effect of the medication or something more serious.
We have also been dealing with nightly headaches. Almost every night, Katha comes out of her room complaining that she can't sleep because of a headache. I usually give her a quarter to a half dose of children's Tylenol and she goes to sleep within the hour. My concern with this has been that Tylenol damage the liver and Katha already has a weak liver. So, I asked the doctor if it was possibly better to switch to children's Advil. He informed me that this was a possibility however, it could cause her nose to start bleeding with a good chance it wouldn't stop for 24 hours and there would be no way anyone could stop it.
Also, he informed me that while Katha's liver isn't normal, the Tylenol (if kept in moderation) won't harm her liver enough to be a concern. So, I guess we stick with Tylenol.
On one of her days home sick we came to the conclusion that the medication and pineapple don't mix. This was a very sad day for Katha because she love fresh fruit, especially pineapple. We FINALLY convinced her to stop crying when she realized that she could still have watermelon. So, I asked the doctor if there are any more fruits that would react the same way pineapple did with the medication. Guess which was the only other fruit he mentioned? Yep, watermelon. However, because it doesn't seem to be causing stomach problems in her yet, we can continue letting her eat it. Hopefully, it won't upset her tummy and she will still at least be able to eat watermelon.
While discovering the new no pineapple rule Katha dropped a plate on her toe. At first the nail turned purple, but I didn't think too much of it. The next day the whole nail was purple, but she still seemed alright. The day after that she didn't complain about the toe at all so I assumed it was getting better (stupid mom!) The following day she came home with a note from her new EA (her other one has already finished for the year) sent home a note in her agenda to say that she had been complaining her foot hurt. So, I immediately checked it and it was TERRIBLE! There was a huge blood blister and her whole tip of her toe was purple. I felt awful and immediately took her to emerg in Lacombe.
They X-rayed it and it wasn't broken (thank goodness). They could relieve the pressure by drilling a hole in the nail and letting it drain. But, as soon as the doctor said anything about even touching it Katha started screaming and we all decided it was better to just let it heal naturally so we've been covering it with neosporin every morning and night and just watching it for infection.
She also had her first communion. She did fantastic! She walked up the stairs and stood at the top while they handed out the first communion to all the boys and girls. When they handed her the wine she took one sniff, said "ew, gross, no!" and that was it. But she looked fantastic and was very well behaved. Most importantly, she didn't drop the host, which is what I was most afraid of. If you are not catholic, it's a BIG deal if someone drops the host.
After our doctors appointment we had to go see the psychologist for a quite update. She asked Katha if she is still having fun in school and Katha informed her "if you think I can have fun in Grade 2, then you don't know Grade 2!" I almost fell off my chair laughing!
We have also come to the realisation that we will have to sell our house. Amory and I are upset by this because we love our house. However, it's a bi-level and the only way to get her in the house in a wheelchair would be through the back door. This winter, we were unable to get in the back alley because of the snow. If that happens again, we wouldn't be able to get Katha in the house until the snow melts. So, we would have to find somewhere else to stay until the snow melted. So, if anyone hears of someone trying to sell a bungalow home, with 4 bedrooms, a walk-in shower, main floor laundry, hardwood floors in the Blackfalds area for cheap, let us know. At this point we are thinking it would be easier to build. But, lots around Blackfalds sell for $250,000 and up, which causes us a huge problem. So, I ask my family and friends to pray for us to find a suitable solution to this problem.
I can't think of anything else for now so onto the symptoms:
Enlarged Liver and Spleen: This hasn't changed although, it's hard for the doctor to measure these organs when Katha can't lay on her back.
Ataxia (unsteady gait): This is very prominent but Katha deals with it in a spectacular fashion. It doesn't slow her down, she just deals with it.
Dysarthria (slurred speech): Katha has started telling stories again and loves to sing. She is still very hard to understand but since getting some energy back will often come sit in the living room and babble about anything and everything. I can't always get every word, but I get the generally idea of what she is trying to communicate.
Dysphagia (trouble swallowing): Katha has trouble with liquid once in a while and she's not quite as hungry as she used to be. But, she still eats really well.
Basal Ganglia (holding limbs at awkward positions): With Katha in the wheelchair more, I don't notice this as much. It happens mostly when she's walking around without support.
Dementia (memory loss): This has been more of a problem especially when Katha is tired. She has forgotten the layout of the school like where the bathroom that she has been going to all year is. She often thinks that her cousin has slept over the night before when her cousin hasn't been here in weeks or even months. She will forget how old she is or what month it is thinking she hasn't had her birthday yet. But, since getting more sleep, this has been happening less.
Seizures: Still seizure free.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Since being in a wheelchair Katha can't fall completely down because of Cataplexy, she just sort of slumps. Which, is really a saving grace. This happens every time she really laughs.
Sleep related disorders: Katha has still not had another night terror. She still has trouble getting to sleep and will generally wake up early. Hopefully, we will be able to figure out the optimum sleep pattern to get her to perform at her best.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): Katha was unable to look up at all yesterday. She has been having trouble keeping any kind of eye contact but still tries, and that's all we can really ask of her.
Medication: The doctor has informed us that it's probably a matter of time because the funding for our medication gets cut off again because no drug company is going to be happy losing all this money. He told us to be sure to come directly to him when this happens and he will do everything he can to help us sort this out. The drug company calls at least once a month to find out if I have any more information regarding the rare disease drug program or if they have found any other programs that might be willing to help with at least partial funding. At this point, the drug company promises me that they will not cut us off until they can find funding through other means.
Thanks for reading everyone! If you have any questions or comments feel free to contact me either through here or facebook!
First, we have been working a lot more with the talker. We had to take back the attachment that held the talker to the walker. It is very heavy and Katha has a lot of difficulty carrying back and forth to school. So, since we mostly understand her at home, she takes it to school on Monday and brings it back home on Fridays. I haven't done anymore voice recording. Honestly, I think I missed my window of opportunity.
Then, we finally got her wheelchair. The people that ordered it didn't realise that they needed to order the seat cushion separately, so that was a bit of a headache. But, we got it all figured out.
We use the wheelchair every time we are out now. Katha can still walk fairly well. Usually, she needs assistance so optimally she would be using a walker. However, she can't look up to see where she is going. She has been running into people with the walker so it's easier to use the wheelchair. She has figured out how to move herself around in the wheelchair but still runs people over because turning is tricky. So, we generally only let her wheel herself around in open areas. Although, she does like to take off on me if I'm not watching her closely. Of course, she's giggling the entire time she's "running" away.
We had the opportunity to go on a very special tour of a fire station through my cousin Scott. It was awesome and no ordinary tour. He brought little fire man uniforms for the boys and all of the kids got to spray the hose, sit on the ladder from the ladder truck (Katha was too scared to), sit in the engine and an ambulance. Jarrome, who has recently decided to become a fireman, had an absolute blast and has reaffirmed that this will be his life's passion. It was an amazing experience that we will not forget. Katha even let Scott hold her hand and push her wheelchair. This is a big deal because she rarely let Amory hold her hand anymore.
One of my first thoughts after this accident was "shouldn't he have had the reaction time to close his eye before the glass got in it?" So, I called up Katha's doctor in Calgary who already took Jarrome's blood and asked him if it would be worthwhile to run the test on Jarrome and he agreed. They informed me the test would take 3 months.
Yesterday, we had a doctors appointment. When we got there the nurse immediately told me that Jarrome's test results are in, but she is not allowed to give me the results. The doctor's visit was about an hour long (I'll get more into what was discussed in a minute) and I watched him flip by the results at least four times. Each time I wanted to snap the letter out of his hands and read it for myself but thought better of it. Finally, at the end of the appointment, as he was closing up the file, I asked about Jarrome's results.
That's when he remembered(!) that he still hadn't talked about that and told me that the results came back negative. He does have one of the mutations but that only makes him a carrier. When he is older and wants to get married, they can test his wife for mutations and that way they can be fore-warned if their children are at risk for NPC. From what I understand from the doctor, if they are, the doctors can actually genetically engineer the baby to ensure that the kid won't get NPC and it will all be covered through Alberta Health because of the risk to the baby. I could be wrong, but that's how I understood it.
So, after the appointment, I went out to where my mom, my aunt, Dom and Jay were waiting. I called Jay over and after some coaxing gave him a HUGE hug and with tears rolling down my face told him he wasn't sick. He didn't understand and couldn't care less but I looked over at my Aunt and my mom and both of them were crying too. We were sitting there crying and hugging when the nurse came out and shouted "Happy Day!" Then informed us there were still more people to see.
So, back to how Katha has been. Since March I have watched Katha slowly slip down a gradual decline. She has been so tired that as soon as she gets home from school, she goes straight to bed and would stay there the entire weekend if I would let her. When we do go out she can barely handle getting through church and going out for a meal before she's begging to go home to bed. As you can imagine, it has worried me to no end.
About 3 weeks ago, Katha got really sick and has hardly spent any time at school. She slept pretty constantly for the first week or so. Then, all of the sudden, she perked up in a way I haven't seen in months. She goes outside and jumps on the trampoline, she plays with her brothers and for the first time since we got him almost a year ago, she actually played with Oreo. It has been amazing! People are starting to understand her again!
Of course, this got me thinking that maybe we are too worried that she is getting to school. Even though Katha uses the wheelchair a lot at home, she is still using the walker at school. So, even before this revelation that Katha needs more sleep, I was starting to figure out that she is going to need to be transported in her wheelchair next year.
I got on the phone with the handi-bus to find out if I would have to send the boys and Katha separately next year or if they would be allowed to take the handi-bus with Katha to school. To my shock, the bus doesn't come out to our town that early in the morning because it is too busy and no one else near us needs a ride that early in the morning. So, they are unwilling to even come get Katha. Which means, I will have to drive her myself next year to and from school.
However, since realising Katha just needs more sleep I have come up with a plan with the school to send the boys on the bus, and bring Katha in around 10:00, which then allows her a little extra sleep. She rarely sleeps past 8 o'clock so this would allow her just a little time to relax in the mornings rather than being rushed and becoming discombobulated. Which, to Katha is a HUGE deal.
Her doctor yesterday seemed almost outraged that the handi-bus refused to come pick her up but I reassured him that I believe that this is a best-case scenario for all involved.
When discussing this with the school I also found out that Katha's EA has to end school early for personal reasons. We were heartbroken because Katha's EA is a tremendous woman who Katha loves dearly (even with the rocky start at the beginning of the school year). However, it has been brought to our attention that there is a very good chance that she will be able to return again next year to be Katha's EA again.
We could not be happier with this news. As I said above, we just love her and she treats Katha the same way I do. She compassionate and loving but she doesn't put up with Katha's attitude and temper tantrums either. Katha gets that stability that she so desperately needs! It is absolutely prayers answered.
Katha has gotten a few more nosebleeds so the doctor ordered some tests to do a platelet count to find out if it is just a side effect of the medication or something more serious.
We have also been dealing with nightly headaches. Almost every night, Katha comes out of her room complaining that she can't sleep because of a headache. I usually give her a quarter to a half dose of children's Tylenol and she goes to sleep within the hour. My concern with this has been that Tylenol damage the liver and Katha already has a weak liver. So, I asked the doctor if it was possibly better to switch to children's Advil. He informed me that this was a possibility however, it could cause her nose to start bleeding with a good chance it wouldn't stop for 24 hours and there would be no way anyone could stop it.
Also, he informed me that while Katha's liver isn't normal, the Tylenol (if kept in moderation) won't harm her liver enough to be a concern. So, I guess we stick with Tylenol.
On one of her days home sick we came to the conclusion that the medication and pineapple don't mix. This was a very sad day for Katha because she love fresh fruit, especially pineapple. We FINALLY convinced her to stop crying when she realized that she could still have watermelon. So, I asked the doctor if there are any more fruits that would react the same way pineapple did with the medication. Guess which was the only other fruit he mentioned? Yep, watermelon. However, because it doesn't seem to be causing stomach problems in her yet, we can continue letting her eat it. Hopefully, it won't upset her tummy and she will still at least be able to eat watermelon.
While discovering the new no pineapple rule Katha dropped a plate on her toe. At first the nail turned purple, but I didn't think too much of it. The next day the whole nail was purple, but she still seemed alright. The day after that she didn't complain about the toe at all so I assumed it was getting better (stupid mom!) The following day she came home with a note from her new EA (her other one has already finished for the year) sent home a note in her agenda to say that she had been complaining her foot hurt. So, I immediately checked it and it was TERRIBLE! There was a huge blood blister and her whole tip of her toe was purple. I felt awful and immediately took her to emerg in Lacombe.
They X-rayed it and it wasn't broken (thank goodness). They could relieve the pressure by drilling a hole in the nail and letting it drain. But, as soon as the doctor said anything about even touching it Katha started screaming and we all decided it was better to just let it heal naturally so we've been covering it with neosporin every morning and night and just watching it for infection.
She also had her first communion. She did fantastic! She walked up the stairs and stood at the top while they handed out the first communion to all the boys and girls. When they handed her the wine she took one sniff, said "ew, gross, no!" and that was it. But she looked fantastic and was very well behaved. Most importantly, she didn't drop the host, which is what I was most afraid of. If you are not catholic, it's a BIG deal if someone drops the host.
After our doctors appointment we had to go see the psychologist for a quite update. She asked Katha if she is still having fun in school and Katha informed her "if you think I can have fun in Grade 2, then you don't know Grade 2!" I almost fell off my chair laughing!
We have also come to the realisation that we will have to sell our house. Amory and I are upset by this because we love our house. However, it's a bi-level and the only way to get her in the house in a wheelchair would be through the back door. This winter, we were unable to get in the back alley because of the snow. If that happens again, we wouldn't be able to get Katha in the house until the snow melts. So, we would have to find somewhere else to stay until the snow melted. So, if anyone hears of someone trying to sell a bungalow home, with 4 bedrooms, a walk-in shower, main floor laundry, hardwood floors in the Blackfalds area for cheap, let us know. At this point we are thinking it would be easier to build. But, lots around Blackfalds sell for $250,000 and up, which causes us a huge problem. So, I ask my family and friends to pray for us to find a suitable solution to this problem.
I can't think of anything else for now so onto the symptoms:
Enlarged Liver and Spleen: This hasn't changed although, it's hard for the doctor to measure these organs when Katha can't lay on her back.
Ataxia (unsteady gait): This is very prominent but Katha deals with it in a spectacular fashion. It doesn't slow her down, she just deals with it.
Dysarthria (slurred speech): Katha has started telling stories again and loves to sing. She is still very hard to understand but since getting some energy back will often come sit in the living room and babble about anything and everything. I can't always get every word, but I get the generally idea of what she is trying to communicate.
Dysphagia (trouble swallowing): Katha has trouble with liquid once in a while and she's not quite as hungry as she used to be. But, she still eats really well.
Basal Ganglia (holding limbs at awkward positions): With Katha in the wheelchair more, I don't notice this as much. It happens mostly when she's walking around without support.
Dementia (memory loss): This has been more of a problem especially when Katha is tired. She has forgotten the layout of the school like where the bathroom that she has been going to all year is. She often thinks that her cousin has slept over the night before when her cousin hasn't been here in weeks or even months. She will forget how old she is or what month it is thinking she hasn't had her birthday yet. But, since getting more sleep, this has been happening less.
Seizures: Still seizure free.
Gelastic Cataplexy (falling down in response to a large emotional outburst): Since being in a wheelchair Katha can't fall completely down because of Cataplexy, she just sort of slumps. Which, is really a saving grace. This happens every time she really laughs.
Sleep related disorders: Katha has still not had another night terror. She still has trouble getting to sleep and will generally wake up early. Hopefully, we will be able to figure out the optimum sleep pattern to get her to perform at her best.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): Katha was unable to look up at all yesterday. She has been having trouble keeping any kind of eye contact but still tries, and that's all we can really ask of her.
Medication: The doctor has informed us that it's probably a matter of time because the funding for our medication gets cut off again because no drug company is going to be happy losing all this money. He told us to be sure to come directly to him when this happens and he will do everything he can to help us sort this out. The drug company calls at least once a month to find out if I have any more information regarding the rare disease drug program or if they have found any other programs that might be willing to help with at least partial funding. At this point, the drug company promises me that they will not cut us off until they can find funding through other means.
Thanks for reading everyone! If you have any questions or comments feel free to contact me either through here or facebook!
Monday 3 March 2014
March 3, 2014
So we now have been a couple times to see ACETS at the children's. They have given us a "talker" for Katha. We had to start calling it that because after telling her it's like a I pad she got mad at it for not playing games. I recorded Katha's voice for about 20 minutes and then edited it to the words I needed. Unfortunately, it was too quiet and I couldn't use any of it to put on her talker so that after she looses her ability to speak, we could still hear her voice.
So, instead, I have to record her voice directly on to the machine. However, she's not great at just repeating what I say directly after I say and loud enough. So, it usually takes us a few tries and she gets frustrated easily. Which, is understandable because I'm asking her to repeat the same word over and over again. Then, she finally screams it at me, which finally makes it loud enough. So, she reaches her breaking point after about 10 words and she won't do it again for a couple days.
I jokingly told someone that by the time I get all of the words recorded, I will have to give the machine back. But, I have gotten everyone's pictures on there, so that is good.
I had to take Katha to emergency a couple of weeks ago because she kept waking up in the middle of the night screaming for me. She was essentially having one of her panic attacks with no provocation that I could figure out. After doing this two nights in a row I called Health Link and told them I was worried about her having a seizure while she was sleeping and then afterwards she would wake up panicked. They agreed with me and told me to head into Red Deer emergency as soon as possible.
So, I woke up the boys and called Amory at work. Amory immediately came home and stayed with the boys which was a huge help. Katha and I got to the emergency room and the doctor almost immediately dismissed the seizure idea. I asked whether it could be sleep apnoea that's causing her distress and he sluffed that off too. He ran some blood work but because that didn't show anything out of the ordinary he concluded that it was night terrors and that there wasn't anything they could do for her. In fact, he informed me that all that could be done is comfort her when it's happening.
Not a week before this happened she had a massive nosebleed at school that was unprovoked as well. Apparently it was so mad she had trouble breathing and it was coming out of her mouth a little as well. It took them about half an hour to stop it. But, by the time I got there she was fine. I brought a new set of clothes and she was fine at the school for the rest of the day.
So, it's been an active couple of weeks. I have spoken to her doctor several times about these new symptoms and he assures me that it's a fluke and not something to worry about. We'll see, I have started leaving a bag out that is now our "hospital bag" so that we can get out of the house a little quicker if something else pops up.
I also heard from the place that is sending us Katha's wheelchair and it should be here any day now. Also, the people at ACETS set up a holder that attaches directly onto her walker so she can walk and talk at the same time. It's a pretty neat gizmo.
Onto the symptoms:
Enlarged Liver and Spleen: As far as I know this hasn't changed.
Ataxia (unsteady gait): I see a steady decline in Katha's walk. She is falling down a lot again. Simple things like when she is sitting on her chair she will suddenly loose balance and fall.
Dysarthria (slurred speech): Katha is getting very quiet again and slurring quite a bit. She is hard to understand and has definitely put an acceleration on wanting to get the talker all set up for her. She has to take the talker back and forth to school and it is quite heavy. She manages, but it's tough.
Dysphagia (trouble swallowing): Katha still chokes every once in a while when drinking. However, this has not slowed down her appetite at all for which we are very grateful.
Basal Ganglia (holding limbs at awkward positions): This has absolutely started to surface more. As well as sucking on fingers and such. I don't know if this is a comfort thing, but it seems to calm her, so I'm not too worried about it.
Dementia (memory loss): Katha tries to remember as much as she can and some things she does really well at. She keeps telling people that we are going to Disneyland for her birthday (I wish). I don't know if this is because she has forgotten our other trip or wishful thinking but when reminded that we are not going she is not visibly upset, she simply remembers.
Seizures: Still seizure free?
Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha, in the past, when having the Cataplexy was usually able to catch herself before she hit the ground, especially if she has the walker. However, I have witnessed her fall completely to the ground a couple times now because of an emotional outburst such as laughing or getting scared.
Sleep related disorders: As mentioned above the doctor is telling me that Katha is having night terrors. However, she hasn't had another episode since I took her into the hospital. I'm praying that it stays like that. When she was having them she would sleep for approximately 3 hours and then be up every half an hour after that screaming again. From what I have heard and seen this isn't what a night terror usually is, but considering her body is not normal, maybe that's all this was. Other than that she still stays up late and wakes up early. However, she tends to stay in bed as long as you let her.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): Katha has been looking up fairly well lately. She still can't tilt her head back, but her eyes themselves will look up with a bit of difficulty.
Also, as far as medication goes, the Zavesca program called because they heard of the rare disease drug program that our government has. They informed me that if I can get coverage through that I have to try that avenue. They said they will not cut us off but they do need us to look into it. After calling several places and getting put on hold a bunch because no one had ever heard of the program, I got a hold of someone who could tell me if we could get on the program. Niemann-Pick is not one of the diseases covered so far, nor is Zavesca a covered medication. But, to get put on the program you have to take it all the way through the government from what I understand. Katha's doctor had already started this process and it is being put in front of some Minister. So, I called the Zavesca program back and they were happy with that for now but will be checking in once a month. I told them that by the time this goes through we probably will no longer be taking the medication and they understood that.
I'm sure I'll think of other things but that's all I can think of for now. Thank you for all your thoughts and prayers. We certainly see amazing things happen all around us and I truly believe that all those prayers are what's getting us through.
So, instead, I have to record her voice directly on to the machine. However, she's not great at just repeating what I say directly after I say and loud enough. So, it usually takes us a few tries and she gets frustrated easily. Which, is understandable because I'm asking her to repeat the same word over and over again. Then, she finally screams it at me, which finally makes it loud enough. So, she reaches her breaking point after about 10 words and she won't do it again for a couple days.
I jokingly told someone that by the time I get all of the words recorded, I will have to give the machine back. But, I have gotten everyone's pictures on there, so that is good.
I had to take Katha to emergency a couple of weeks ago because she kept waking up in the middle of the night screaming for me. She was essentially having one of her panic attacks with no provocation that I could figure out. After doing this two nights in a row I called Health Link and told them I was worried about her having a seizure while she was sleeping and then afterwards she would wake up panicked. They agreed with me and told me to head into Red Deer emergency as soon as possible.
So, I woke up the boys and called Amory at work. Amory immediately came home and stayed with the boys which was a huge help. Katha and I got to the emergency room and the doctor almost immediately dismissed the seizure idea. I asked whether it could be sleep apnoea that's causing her distress and he sluffed that off too. He ran some blood work but because that didn't show anything out of the ordinary he concluded that it was night terrors and that there wasn't anything they could do for her. In fact, he informed me that all that could be done is comfort her when it's happening.
Not a week before this happened she had a massive nosebleed at school that was unprovoked as well. Apparently it was so mad she had trouble breathing and it was coming out of her mouth a little as well. It took them about half an hour to stop it. But, by the time I got there she was fine. I brought a new set of clothes and she was fine at the school for the rest of the day.
So, it's been an active couple of weeks. I have spoken to her doctor several times about these new symptoms and he assures me that it's a fluke and not something to worry about. We'll see, I have started leaving a bag out that is now our "hospital bag" so that we can get out of the house a little quicker if something else pops up.
I also heard from the place that is sending us Katha's wheelchair and it should be here any day now. Also, the people at ACETS set up a holder that attaches directly onto her walker so she can walk and talk at the same time. It's a pretty neat gizmo.
Onto the symptoms:
Enlarged Liver and Spleen: As far as I know this hasn't changed.
Ataxia (unsteady gait): I see a steady decline in Katha's walk. She is falling down a lot again. Simple things like when she is sitting on her chair she will suddenly loose balance and fall.
Dysarthria (slurred speech): Katha is getting very quiet again and slurring quite a bit. She is hard to understand and has definitely put an acceleration on wanting to get the talker all set up for her. She has to take the talker back and forth to school and it is quite heavy. She manages, but it's tough.
Dysphagia (trouble swallowing): Katha still chokes every once in a while when drinking. However, this has not slowed down her appetite at all for which we are very grateful.
Basal Ganglia (holding limbs at awkward positions): This has absolutely started to surface more. As well as sucking on fingers and such. I don't know if this is a comfort thing, but it seems to calm her, so I'm not too worried about it.
Dementia (memory loss): Katha tries to remember as much as she can and some things she does really well at. She keeps telling people that we are going to Disneyland for her birthday (I wish). I don't know if this is because she has forgotten our other trip or wishful thinking but when reminded that we are not going she is not visibly upset, she simply remembers.
Seizures: Still seizure free?
Gelastic Cataplexy (falling down in response to a large emotional outburst): Katha, in the past, when having the Cataplexy was usually able to catch herself before she hit the ground, especially if she has the walker. However, I have witnessed her fall completely to the ground a couple times now because of an emotional outburst such as laughing or getting scared.
Sleep related disorders: As mentioned above the doctor is telling me that Katha is having night terrors. However, she hasn't had another episode since I took her into the hospital. I'm praying that it stays like that. When she was having them she would sleep for approximately 3 hours and then be up every half an hour after that screaming again. From what I have heard and seen this isn't what a night terror usually is, but considering her body is not normal, maybe that's all this was. Other than that she still stays up late and wakes up early. However, she tends to stay in bed as long as you let her.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): Katha has been looking up fairly well lately. She still can't tilt her head back, but her eyes themselves will look up with a bit of difficulty.
Also, as far as medication goes, the Zavesca program called because they heard of the rare disease drug program that our government has. They informed me that if I can get coverage through that I have to try that avenue. They said they will not cut us off but they do need us to look into it. After calling several places and getting put on hold a bunch because no one had ever heard of the program, I got a hold of someone who could tell me if we could get on the program. Niemann-Pick is not one of the diseases covered so far, nor is Zavesca a covered medication. But, to get put on the program you have to take it all the way through the government from what I understand. Katha's doctor had already started this process and it is being put in front of some Minister. So, I called the Zavesca program back and they were happy with that for now but will be checking in once a month. I told them that by the time this goes through we probably will no longer be taking the medication and they understood that.
I'm sure I'll think of other things but that's all I can think of for now. Thank you for all your thoughts and prayers. We certainly see amazing things happen all around us and I truly believe that all those prayers are what's getting us through.
Friday 17 January 2014
January 17, 2014
Well, we had an appointment today. It was with ACETS, which is a communication device that Katha can use as her symptoms get worse. It will be a great help but this was just the first step in several. All of which we're hoping to complete by the end of June.
So, Katha has her medication and the pharmacist assured me that she has never heard of anyone being denied coverage after getting on the compassionate grounds program with any medication, not just this one. Which was great to hear that it's more than likely that we won't have to worry about this medication again.
We talked briefly to the doctor about trying medications with the Zavesca. However, because there has been no research done on how anything else will react with her current medication he doesn't feel that's a risk we should be willing to take. Considering how much he goes above and beyond for us, I was more than willing to take his advice on the subject. Also, he knows a lot more about it than I do.
Katha has show signs of regression again. She has started falling down a lot more again, her speech is slurred and she is having problems going to the bathroom on time. She has also had a couple more panic attacks.
We are hoping she is just having a bad few weeks and will bounce back better than ever. This probably isn't going to happen but it doesn't mean it's straight down hill from here either. She will have good days and bad days like she always has.
With any luck we will hear from the psychologist soon so that we can at least have some idea if we can do anything to help her with panic attacks. Simply because they are so draining on her and when she has them it's impossible to send her to school because they usually end with her getting physically ill.
With the other issues, unfortunately there is nothing the doctors can do but sit back and see what happens. We could put her on medications for the cataplexy (which is when she falls down because of an emotional outburst) but I have asked that we wait and see because it's not happening enough to put her on another medication.
Katha is continuing to draw back into herself like she always does when her speech slows down again. It's sometimes hard to remember that she won't include herself in anything unless you make a point to get her to participate. Even then, she doesn't often have the energy to participate long. I find she has the most energy right before bed and then ends up staying up later than she should.
Symptoms:
Enlarged Liver and Spleen: As far as I know this hasn't changed.
Ataxia (unsteady gait): Katha uses her walker now whenever we leave the house. Although, when out, if she finds something that excites her, she will run off, leaving her walker behind. When this happens it's kind of fun to watch other people's faces. I think that they think they just witnessed a miracle, ha ha ha.
Dysarthria (slurred speech): Katha has started speaking very quietly and slowly again. Because of this she doesn't like talking to very many people unless they are willing to take the time to listen to her. (If they can understand her at all).
Dysphagia (trouble swallowing): When drinking Katha will often choke briefly. However, this hasn't effected her eating at all.
Basal Ganglia (holding limbs at awkward positions): Katha sometimes does this. You can see it if you're looking for it but it is far from constant.
Dementia (memory loss): Katha still forgets things but is easily reminded. If she hasn't seen you fairly constantly, she won't remember you. So, don't take it personally, it's just part of the disease.
Seizures: Still seizure free!
Gelastic Cataplexy (falling down in response to a large emotional outburst): She has had a couple really bad falls, not always from this, but this doesn't help. However, it is not frequent enough that I feel she needs to be medicated for it.
Sleep related disorders: Katha loves to sleep, however, she has a tough time going to sleep and a rough time waking up.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): Katha has a difficult time looking up and I'm starting to wonder if when she does it can cause a panic attack. (Her last panic attack was after she had fallen down the stairs and then after recovering looked up to take her ski pants down and then started screaming "MOM! I'M FREAKING OUT!" Which scared me but made me giggle when I though about it later.
So, Katha has her medication and the pharmacist assured me that she has never heard of anyone being denied coverage after getting on the compassionate grounds program with any medication, not just this one. Which was great to hear that it's more than likely that we won't have to worry about this medication again.
We talked briefly to the doctor about trying medications with the Zavesca. However, because there has been no research done on how anything else will react with her current medication he doesn't feel that's a risk we should be willing to take. Considering how much he goes above and beyond for us, I was more than willing to take his advice on the subject. Also, he knows a lot more about it than I do.
Katha has show signs of regression again. She has started falling down a lot more again, her speech is slurred and she is having problems going to the bathroom on time. She has also had a couple more panic attacks.
We are hoping she is just having a bad few weeks and will bounce back better than ever. This probably isn't going to happen but it doesn't mean it's straight down hill from here either. She will have good days and bad days like she always has.
With any luck we will hear from the psychologist soon so that we can at least have some idea if we can do anything to help her with panic attacks. Simply because they are so draining on her and when she has them it's impossible to send her to school because they usually end with her getting physically ill.
With the other issues, unfortunately there is nothing the doctors can do but sit back and see what happens. We could put her on medications for the cataplexy (which is when she falls down because of an emotional outburst) but I have asked that we wait and see because it's not happening enough to put her on another medication.
Katha is continuing to draw back into herself like she always does when her speech slows down again. It's sometimes hard to remember that she won't include herself in anything unless you make a point to get her to participate. Even then, she doesn't often have the energy to participate long. I find she has the most energy right before bed and then ends up staying up later than she should.
Symptoms:
Enlarged Liver and Spleen: As far as I know this hasn't changed.
Ataxia (unsteady gait): Katha uses her walker now whenever we leave the house. Although, when out, if she finds something that excites her, she will run off, leaving her walker behind. When this happens it's kind of fun to watch other people's faces. I think that they think they just witnessed a miracle, ha ha ha.
Dysarthria (slurred speech): Katha has started speaking very quietly and slowly again. Because of this she doesn't like talking to very many people unless they are willing to take the time to listen to her. (If they can understand her at all).
Dysphagia (trouble swallowing): When drinking Katha will often choke briefly. However, this hasn't effected her eating at all.
Basal Ganglia (holding limbs at awkward positions): Katha sometimes does this. You can see it if you're looking for it but it is far from constant.
Dementia (memory loss): Katha still forgets things but is easily reminded. If she hasn't seen you fairly constantly, she won't remember you. So, don't take it personally, it's just part of the disease.
Seizures: Still seizure free!
Gelastic Cataplexy (falling down in response to a large emotional outburst): She has had a couple really bad falls, not always from this, but this doesn't help. However, it is not frequent enough that I feel she needs to be medicated for it.
Sleep related disorders: Katha loves to sleep, however, she has a tough time going to sleep and a rough time waking up.
Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down): Katha has a difficult time looking up and I'm starting to wonder if when she does it can cause a panic attack. (Her last panic attack was after she had fallen down the stairs and then after recovering looked up to take her ski pants down and then started screaming "MOM! I'M FREAKING OUT!" Which scared me but made me giggle when I though about it later.
Subscribe to:
Posts (Atom)