Thursday, 20 August 2015

August 20, 2015

Since I really should have updated sooner, I will try to be brief with all that has happened. 

First, the renovations.  It is overwhelming how much time, effort, love and support went into our home.  There is hardly a room in our house that went untouched by the amazing people at Neighbours. 

Katha loves her room so much that she hardly comes out of it. 

The boys have nicknamed their room the DJ cave.

 I love everything about our house.  The main floor laundry is awesome. 

We no longer have to worry about people parking in front of our house because they put in a driveway. 

I love baking on our new stove and the other day when Katha had a huge accident, it was so much easier to deal with it in our HUGE bathroom.

The kids all got Smart TV's with surround sound put in their rooms.  They sorted out the cables so you can't see them in the living room.  We have a new kitchen table and chairs.  Amory especially loves the new deck that's 2 to 3 times bigger than our old one.

And of course, the ramp and lift so that we can get Katha into the house is amazing!

The whole experience was just spectacular and the incredible people I have had the privilege to meet has been fantastic.

Katha has been pretty good these last few months.  I always worry about her not being as active during the summer because we have consistently been told that the more active she is the slower the progression of her disease will be.  Katha LOVES to swim and with the Abbey Centre right down the road, I figured, it would be a good way to keep her going this summer.  The very first visit there this summer I paid for a month membership.  After we got into the pool a man and a woman approached us and gave us another month membership.  It was amazing and I'm so appreciative to have this opportunity.

Katha's tremors are becoming worse and it makes it difficult to eat.  I often have to help her finish her meal because she just can't get smaller pieces into her mouth.  Her speech is becoming more and more difficult to understand.  On a good day I would say I catch about 50% of what she says which is usually enough to figure out what she is trying to say.  She still sings quite a bit but prefers to have a hair brush to sing into as a microphone. 

Her walk is shaky at best and I think it won't be long until she is in a wheelchair full time.  The smallest errands outside the house require a wheelchair and we now have a commode on wheels to get her to and from the bathroom in the morning because she has a hard time when she first wakes up.

Katha's cataplexy is consistent now.  If she laughs, she falling.  In fact, one of her favourite games is to try to race me back to her room.  I now have just enough time for her to turn around and start running to jump out of my chair and catch her before she falls going into the hallway towards her room.  Because she knows I'll catch her, this is still one of her favourite games.
So, in November we are planning a trip to Disney World with Grant and his girls, as well as Mare and Emma.  Katha is so excited about the opportunity to go on rides with her cousins.  Unfortunately, Dan and his family can't join us because they have a new adorable addition.  Because of this trip we were not going to go to Montana this summer in order to save money for the Disney trip.  Well, with all that was going on we forgot to cancel the rooms we booked in Montana last year.  So, mom, dad, Katha, Dom, Jay, Emma and I all decided to go down for a week.

Last year when we went to Montana we noticed a huge difference in Katha's behaviour.  To put it in the simplest terms, she lights up.  Her speech gets better, her walk get better, she laughs more, she talks more, she's just better.  When we noticed this last year we contributed it to a change in her medication.  This year, we noticed the same difference without a change to her medication.  I don't know if it's because we are all more relaxed and slow down, so she can just keep up or something else but it's an amazing transformation to witness. 

To give an example, she only used her wheelchair once while in Montana and it was at a mall where we were on our feet for an hour.  She had full conversations again and she hugged people voluntarily as well as giving me a kiss which she hasn't done in probably 2 months.

Here is an example of how well she was talking:

Me:  Katha, we have to go home the day after tomorrow.
Katha (starting to cry):  Why?!
Me:  Because this is someone else's house and they need it back.
Katha:  But, I'll take care of it.
Me: So, should I leave you here for the next family?
Katha:  No, they'll speak Ruff, Ruff.
Me:  You mean they'll speak a different language?
Katha:  Yeah, like Oreo.
Me:  Well, we are going to go to Church tomorrow.
Katha:  But tomorrow isn't Sunday.
Me:  Yes, but we'll be driving all day Sunday and we don't want to stop to go to Church.
Katha:  Which church are we going to, because there are like 4 around here.
Me:  The one in town, so it will only take us a couple minutes to get to it.
Katha (to a reflection of herself):  Save your breath, Katha, she doesn't know what she is talking about.

As you can imagine, I was killing myself laughing by the end of this conversation.  Usually, I'm lucky to get a yes or a no out of her.

She has been pretty confused this summer.  She is convinced that she has been missing a boat-load of school.  Everyday she asks if she's going to school today and if it's her birthday.  So, I've started a countdown to the beginning of school.  However, she ALWAYS knows the day of the week.

Amory was laid off for 3 months before getting back to Evraz (except for the month he spent at Ledcor), who in the meantime switched Health Insurance providers.  Since the switch, the new insurer has decided to cover Katha's medication again.  So, for the past few days, I've been trying to figure that out.  Katha is apparently almost 100 pounds and just under 5 feet tall.  This is going to increase her dosage.  So now, her medication is going to cost $15,000 a month instead of $10,000.  According to the provider there is no limit on the coverage of this medication, but that's what the last one said so we'll see how long they will cover it.

Because the medication is so expensive the pharmacy here doesn't want to order it in case the insurance provider won't cover the medication before it's ordered which is often the case.  I can't say I blame them, they are a small business in a small town.  It sounds like we are going to try to keep getting the pharmacy that is sending it to us now to keep sending it.  If that doesn't work for whatever reason, we'll have to get it through the Alberta Children's Hospital again.

We have also recently noticed that Katha is going through an early puberty.  After consulting with doctors, pharmacists, talking with other NPC parents and reading some studies on line we have found out that this  is fairly common in NPC patients.  Although, they are not sure if it's caused by the medication or the disease itself.  This has presented us a with few problems, mostly with the fact that Katha has been becoming increasingly frustrated more easily and will throw small temper tantrums.  She is easily diverted and we are learning how to avoid these situations as best we can.  Another concern was Katha taking Midol or children's Tylenol with Zavesca.  The pharmacist is looking into which medications will have the least side effects on Katha.

Sorry this has been so long.  I think that's the end of our update.  I'm impressed if you have gotten through this massive wall of text.  Onto the symptoms:

Enlarged Liver and Spleen: Still the same

Dysarthria (slurred speech): I am honestly impressed when someone understands her anymore.  I only get about 50% of what she says which causes her to become frustrated but she will usually just point to what she wants or start getting it herself until I come to help her.

Dysphagia (trouble swallowing):  She chokes easily but recovers quickly.  Still downing that steak whenever she can get her hands on it though.  Seriously, if you ever want to win Katha over, just bring her a big, juice steak and she'll love you forever.  (Or at least until she finishes the steak, lol)

Basal Ganglia (holding limbs at awkward positions):   Katha's arms are becoming very stiff with her hands curled towards her body.  It makes washing her hands difficult because she is unable to straighten them most of the time.

Dementia (memory loss):  Katha can't tell you what month or day or even year it is.  But, boy can she tell you what day of the week it is and when her and Emma's birthday is.  Katha can no longer count to 10.

Seizures:  No seizures that we are aware of.

Gelastic Cataplexy (falling down in response to a large emotional outburst): She took a big spill on the concrete at the pool because she got scared.  Poor Emma tried to catch her but she's nearing 100 pounds now.  She got pretty scraped up but luckily that's when the dementia kicks in and she forgets it even happened.

Sleep related disorders:  Katha stays up pretty late and gets tired really easily.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Katha doesn't really look up anymore.  Every once in a while she has a good day and will look me directly in the eye.  Other than that her eyes will roll a lot and stay on the ground.

Medication:  Amory's work is going to cover it again for a while.  We have in writing that it's until next June and they say that's without limits.  We'll see how long this lasts.  We are also upping the dose from 400 mL a day to 600 mL a day.

Sunday, 17 May 2015

May 17, 2015

So, I have to start this post by saying "God is good".  I know some of you don't believe as I believe and that's great for you but I have seen God bring amazing people into our lives and for the past few weeks, our lives have been one miracle after another.

It all started a couple weeks ago when we found out we had been nominated for some renovations for our house through a charity called "Neighbors" through "A Better World Canada".  One of the families at the kids' school had been nominated last year and wanted to nominate someone else this year.  So, they asked at the office, and the amazing office staff recommended us.

A few days later Neighbors contacted us and told us that we were one of three families being considered.  They came to our house and sat down with us to find out what our needs would be.   Then they told us that we would know if we have been chosen by the end of the week.

Well, the end of the week arrived and we got another call telling us that they needed to bring out a plumber to figure out if our needs are feasible.  Then we got another call telling us they needed to bring out an electrician to find out if our renovations were feasible.  However, when they showed up at the door there was no electrician.  There was however a video camera, streamers and balloons.  They told us we have been chosen for the renovations! 

They will be here most of June and will be figuring out a way for Katha to get into the house in her wheelchair (so either a lift or a ramp or a combination of both), turning the boys room into a bathroom with a walk-in shower and turning the main bathroom into a main floor laundry.  The boys will have to move downstairs into Katha's old room, which they are very excited for.

During all of this Katha's EA sent me a text telling me about a family whose looking to sell their wheelchair accessible vehicle for a very reasonable price.  I immediately contacted the person who had sent out the e-mail and told her that we would definitely be interested.  She put me in contact with the gentleman who was actually selling the vehicle.  We called back and forth a few times and today they stopped by so we could see the vehicle.

Well, they stopped by to let us look at it and then GAVE us the van.  So, I say again, God is good.  I am so amazed with people's generosity.  It wasn't 2 months ago where I was crying to Amory asking what we are going if Katha has a seizure and needs to be in a wheelchair full time immediately.  His answer was "trust God" and boy, was he ever right!

So, Amory is still laid off from Evraz, but he has found a new job painting lines on the highways.  He started last Monday.  The downside of this job is that he will be away for 24 days at a time.  For the past 2 months I have been working at the movie theatre in Red Deer.  It was an interesting 2 months but Katha did not react to it very well.  She started hitting her brothers more, not cooperating with her EA as well, she even bit me once, which she has NEVER done before.  So, once Amory got the new job, I immediately quit my job and everything is starting to settle down once again.

Katha's memory has been slipping more recently.  The other day she forgot Jarrome's name and one day she came home from school I asked her what she did with (her EA's name) that day and her response was "THAT'S HER NAME!"  When she realises she has forgotten something she gets really frustrated and starts to cry.  So, she has been crying a lot easier lately, but we're working on her using her words rather than resorting to crying.

She has a little cold right now and I have come to realise that she can still cough but as soon as she thinks "I have to cough", out comes this extremely fake cough/grunt thing that makes me giggle. 

Enlarged Liver and Spleen: Still the same

Dysarthria (slurred speech): Katha is very hard to understand.  Most people have to look to me or her EA for a "Katha translation".  I, on the other, find I can understand most little kids, whether they are familiar to me or not.

Dysphagia (trouble swallowing):  Katha's kisses are very slobbery, but they are also very rare.  So, I guess you take what you can get.  She still chokes quite a bit but she also recovers by herself just fine.

Basal Ganglia (holding limbs at awkward positions):  This is pretty constant now especially when walking or trying to do something difficult.

Dementia (memory loss):  This is definitely becoming more prevalent and it's frustrating her.  I think we're heading into a transition period for Katha and I hope it's not too difficult for her.

Seizures:  No seizures that we are aware of.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  This has still stuck to mostly just laughter, which we are very thankful for.

Sleep related disorders:  Katha has been sleeping in a lot lately.  She has also been known to wake up several times a night.  If she is up in the middle of the night she generally sings herself back to sleep. (Not the worse thing in the world to wake up to.)

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Katha has good days and bad days with this.  Some days it's hard for her to look anywhere but straight forward, she only has a little difficulty looking around.

Medication:  I got a call from the drug company on Thursday and there is a group that advocates on behalf of patients with rare diseases to have their medication funded through the Alberta government.  Hopefully, they will be able to get the bill passed before the drug company decides to cut us off to make things progress.

Again, thank you for all the love, prayers, hugs and everything that so many of you have done for us.  It truly means more to us than I can possibly put into words.  I only hope that one day I can return the same amount of love and generosity that has been shown to us to others.  My family, friends, neighbors and even strangers are amazing beyond all measure.

Wednesday, 4 March 2015

March 4, 2015

Well, we finally got finished with her assessment.  It was exactly what we expected it to be but we'll get to that in a minute.

If any of you follow me on Facebook, you'll remember a while ago I posted a video of "Katha's radio show".  If you watched past the first minute (it was a 7 minute video, and I don't blame you if you skipped it entirely!) during one of her songs she just spaces out for a minute.  About 5 seconds later, I say her name, she smiles and continues doing what she was doing before she spaces out.  No big deal, right?  Well, we took that video to her doctor today and he thinks we are right, they are seizures.  I will call her neurologist and we'll hopefully get another EEG done to see if that's actually what they are.

They happen about every 2 weeks, which, for anyone who has experiences with seizures knows that this is no big deal.  Seizure medication has a lot of side effects and often takes a long time to get right, so we will try to keep her off of them for as long as we can because she had to take some once and didn't react well to it.

During our talk we found out that if this assessment shows that she's declined a lot while on the medication the government will not fund any future medication.  Right now we are receiving her medication through the drug company on compassionate grounds.  Therefore, it wouldn't affect us immediately but it could be detrimental in the future.

So, we went to get the results of the assessment.  Katha actually did better than what we were expecting.  Her results showed that there hasn't been much change in her cognitive skills in the last two years.  Now, the last test was right before we got her on her medication.  If you remember, not long after we put her on Zavesca she improved, greatly.  So, what this shows is that really, she has had a decline, but she's back to where she started before going on the medication.

So, as far as her medication is concerned, this proves that it has held off any degeneration that is expected with Niemann-Pick type C.  Which, will help us if the drug company decide to cut us off until the government will help us get her medication.

The assessment showed her steepest decline is in her "independent living."  Which, really, we knew because Katha has a hard time doing anything by herself anymore.  She dresses herself, but really, that's about it.  So, what this tells us is that her motor skills has been the most affected by the disease so far.  Which, can't really come as a surprise considering she has gone from walking to in a wheelchair 75% of the time. 

Katha's birthday is on Saturday and she is looking forward to it so much.  We haven't decided yet what we are going to do for it, but it will probably be fairly low key.  Which, for Katha, isn't a problem usually.  She likes laying low.

So, onto the symptoms:

Enlarged Liver and Spleen: Her liver is still 8 cm too large.

Dysarthria (slurred speech):  Katha is still hard to understand, but according to her assessment, she understands a lot more than she can communicate.

Dysphagia (trouble swallowing):  She still chokes a bit when drinking but it doesn't seem to slow her down.

Basal Ganglia (holding limbs at awkward positions):  I noticed she is doing this even when sitting down now.

Dementia (memory loss):  The assessment showed that Katha can remember up to 4 numbers at a time.  Katha is constantly surprising me with how much she can actually remember.

Seizures:  I'll let you know what the neurologist has to say.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  If Katha's laughing, she's falling.  That's just how it is.  I was impressed today as one of the nurses came up on her fairly quickly and scared her.  She started to cry but what I was impressed with was she actually said to the nurse "you scared me" then started to cry.  Usually she has trouble telling people what it is that has made her upset.

Sleep related disorders:  Katha has trouble going to sleep, but most days she wakes up either singing or giggling.  It's one of my most favourite parts of the day, hearing her wake up.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  It's definitely difficult for her but she manages.

Medication:  We still haven't been cut off and we pray every day that she won't.  We were supposed to get one month through Amory's insurance but they called to say that we are still technically over our limit and they will be giving her absolutely no drug coverage this year.  So, here's hoping we can stay off seizure medication for that reason too.  Although, I do honestly believe that she's better off without it for now.

Thanks again for all the love and support.  We could use some more prayers.  Amory has his last shift on Sunday because he has been laid off and I am going to be going back to work.  The last time we tried this I ended up needing back surgery.  Please pray that my back is stronger this time than 5 years ago and that Amory will be back at work soon and that Katha takes to this transition well.  Thank you again!