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!