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.