Saturday, 14 December 2013

Quick update on medication

So, today I heard from Standard Life.  They are willing to cover Decembers medication on compassionate grounds.  For January we have another $15,000 before we reach the limit, which should cover us for that month.  Until then they have a representative working tirelessly trying to find other coverage through either the government or the drug company itself.

Also, there was a computer error and that is the reason they covered us so much above the limit they were supposed to cut us off at.  They could, legally ask us to repay them the money they over spent on Katha's medication.  Thankfully, both Evraz (the company Amory works for) and Standard Life have decided not to make us repay because of their error.

Honestly, this is a best case scenario.  I didn't think I was going to get any other  answer than you are being denied, good luck on finding other coverage.  Hopefully the government approves us for coverage even though Niemann-Pick Disease is not a disease they cover so far.

Standard Life has informed us that sometimes the drug company as a compassionate use program as well.  So, even if the government says no, we are not completely out of options.

I won't go through the symptoms again as they haven't changed in the last two days.  Keep us in your prayers because they are definitely working!

Thursday, 12 December 2013

December 12, 2013

So, it's been a while and a lot has happened.  Let's start off with some good news because I like good news better than bad.  Katha has been measured for both a wheelchair and walker of her own.  We have already gotten the walker and she uses it at school.  We took the walker she had at school and brought it home.  We keep it in the car and because of the almost 3 feet of snow we have already gotten, she uses it a lot.

Onto the bad news.  Standard Life has decided to discontinue covering Katha's medication.  Actually, they have cut off all coverage for Katha.  They have told us that we have reached the $30,000/3 years limit. 

Since she has already been on the medication for a year it means she won't be covered for anything for 2 more years.  Considering her life expectancy is 2 to 4 years, that leaves us with a serious problem.

We immediately contacted her doctor in Calgary and he has started the process of getting the government to cover at least part of the cost.

What this means for Katha is simply she would start going downhill quickly.  She has already started to backslide slightly even still being on the medication. 

Like I said, Katha now uses her walker a lot.  She is having trouble being understood again, even by me.  She is also exhausted almost all of the time.  Doing little tasks has been very difficult for Katha lately and we only have about 30 days more of her medication.

The doctor seems to think we may be able to get some kind of answer from the government before we run out of medication because he has recommended that we don't lower her dosage until we find out if we will be able to get more.

The most confusing part about this is that Katha's medication is $10,000/month.  Which means we hit the limit that the insurance company has said we reached within 3 months, but they paid for the medication for a year.  Also, if you look back, we were never told about this limit until now.  At the time of getting approved for coverage for the medication they told us that there is no limit on the coverage for this medication.

Even after getting denied I got in contact with the drug company who again conference called the insurance company with me and again they told us that there is no limits on the coverage for the medication and that we simply hadn't filled out the correct forms yet and then coverage should continue.  After speaking with the drug company representative some more they informed us that it could be the company Amory works for that is telling the insurance company to deny the coverage.

The day before I was on the phone with the drug company Amory found out from his union representative that Evraz has to pay Standard Life back for all prescription coverage so they get to change which medications get covered with absolutely no notice to the employees.  So, if something costs too much they can discontinue coverage and there is absolutely nothing we can do.

In the meantime I also found out that if we were to go through something like Alberta Blue Cross, they won't cover her medication, so that is pointless.  However, there is a government program that will help us with things like nursing and child care for when Katha gets really bad or if she has an appointment we can still send the boys to school and they will send someone to look after the boys until I can get home.

Also, if we do get approved for government assistance with the medication but they will only cover 70% of the cost, this other program will help us with the other 30%.

We found out that the recommendation for an assessment for Katha's behaviour issues, her possible dyslexia and her exhaustion has been given to Aspire.  The cost of this assessment is $1400 and because Katha has no medical coverage this is all out of pocket.  So, I called Dr. Khan and he will try to get someone to come to the children's hospital to do the assessment so that the cost can be covered through Alberta Health Care.  They didn't do this initially because the psychiatrist that usually does this is no longer at the children's so they didn't think it could be done this way.  Hopefully they find a way to do this.  If not, we will use some of the donations that people have already generously given us for Katha's medical expenses.

Onto the symptoms:

Enlarged Liver and Spleen:  This hasn't been checked since my last blog, but we have no reason to believe that it's not different.  That is the Liver is normal but the spleen is slightly enlarged.

Ataxia (unsteady gait):  Like I said previously, Katha has started using a walker whenever she's not in the house.  In fact, when going out she actually asks to use it.  This is unlike her, she has always wanted to be very independent.  However, if she doesn't use it in the snow we can almost guarantee she will fall down at some point.  Also, she like to hit me in the back of the legs with the walker while we are shopping.

Dysarthria (slurred speech):  Katha speech has become very slurred.  She is very difficult to understand and sometimes I can't even understand her.  Unless she has a lot of energy and they she becomes more articulate and will tell long stories.

Dysphagia (trouble swallowing):  Katha has had a bad cold for about 2 weeks now.  She has trouble coughing hard enough to get the phlegm out and it's really affected her sleep.  However, both her brothers got the flu and she didn't.  I was very impressed considering she's the one with the auto-immune deficiency.  She still drools a little when not paying attention and will often choke on any fluids.  But she can still get a 16 oz. steak down in under 15 minutes.  So, she's not letting that get to her.

Basal Ganglia (holding limbs at awkward positions): Katha does this but not constantly.

Dementia (memory loss):  Katha's concept of time is completely off.  She will think something that happened weeks ago happened yesterday.  For example, we took her cousin Emma to Dominik's birthday party in Alix 2 weeks ago and she asked last night when we were going to pick up Emma for Dom's party.  She had completely forgotten all about it, until she was reminded and then it will come back to her.

Seizures:  Katha still has not had a seizure and hopefully she won't because any mediation will no longer be covered.

Gelastic Cataplexy (falling down in response to a large emotional outburst):   This still happens but it's a lot easier to handle with the walker because Katha can catch herself before she falls down completely.  She has also started crying randomly for no reason.  When asked why she is crying she honestly does not know.

Sleep related disorders:  Katha sleeps a lot.  She will take naps at school, then come home and just want to go to bed.   Even on weekends she will get up to eat and if we go out to do something she will but she would prefer to stay in bed.  We try to make her get up and get active as much as we can, though because otherwise she will lose the ability to get up and get going.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):   Katha can still do this occasionally but it's extremely difficult for her to look up.  Down doesn't seem to be as much of a problem.

Thursday, 3 October 2013

Oct. 3, 2013

Today was another fun-filled doctor today.  Although, to keep completely up to date, I should start at the beginning of the week.  (It's been a long week!)  On Monday Katha's teacher called in the middle of the day to let me know that they have been having issues with Katha's behaviour lately.   Apparently she hasn't been listening, getting very frustrated and crying a lot.  She also hit her EA.

If you have ever met Katha you will understand why I was shocked to learn this.  I could probably count on one hand how many times she's hit her brothers and she has never hit anyone else.  When I asked about it when Katha got home (after trying to lie about it) she finally admitted it by starting to cry and PROMISING never to do it again.  I told her the next day she must apologize to her poor teacher and promise her never to do it again.  She agreed and I was hoping that was that.

Long story short, it wasn't and we now have a system in place that will hopefully curb this behaviour quickly.  It involves her teacher or EA giving her a rating on her behaviour that day and putting it in her agenda.  Then I will reprimand her or reward her based on that rating. 

At the doctor today we learned several things.  He is going to refer Katha to the Children's Hospital Psychologist.  This is because of a few things.  First, the "panic attacks" at the pool.  Second, I have suspected for a while that Katha might have dyslexia, so they will look into that more.  Third, her drastic change in behaviour.

He also mentioned that just because she is doing so well on her medication it doesn't mean that it will improve the quantity of her expected life-span.  He reminded me that when she went on the medication he advised that it wouldn't quantity but quality of life.  In other words, the life expectancy he gave us as 3-5 years is down to 2-4.  Yes, on October 24th it will have been a year since her diagnosis.

But, Katha continues to do well.  Which we are thankful for everyday especially since realizing we've already gone through a year.  The great part is that this disease is so unpredictable that we have every hope that Katha will prove all of the doctors wrong and far exceed their expectations.

Onto the symptoms:

Enlarged Liver and Spleen:  Katha's liver is still normal sized.  However, according to the last ultrasound her spleen has actually grown slightly which has led the doctor to believe that maybe the medication isn't doing as much for Katha as we had previously hoped.

Ataxia (unsteady gait):  Katha has refused to use her walker at school lately (which has been part of the behaviour problems).  She falls down approximately once every other day which is better than the several times a day it was.

Dysarthria (slurred speech):  Katha is still difficult to understand, however, today at the doctor she was in a very talkative mood and I never had to translate for her once.  She would even clarify her stories (when telling a story about her cousin Emma she would stop and explain who Emma was to her).

Dysphagia (trouble swallowing):  Katha hasn't choked in a while.  According to the doctor this is one of the things that the medication is supposed to specifically help with.  It seems to be working.

Basal Ganglia (holding limbs at awkward positions):  Katha still does this but it is very subtle most of the time.  She also has a slight tremor but it has actually gotten better in the last few months.  This mostly effects her with eating.

Dementia (memory loss):  Katha will still forget what she is saying mid-sentence but generally she just laughs it off.  I haven't noticed a drastic improvement in her memory but it's not getting worse either.

Seizures:  Katha still has not had any seizures.

Gelastic Cataplexy (falling down in response to a large emotional outburst): This still happens when Katha is getting tired and being silly.  They are very aware of it at school and are constantly on the lookout for it.

Sleep related disorders:  Katha still has a hard time getting to sleep and generally wakes up in a panic.  However, she does seem more energetic more often.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):   She looked up today!  It was really noticeable and very exciting.

So, yeah, I'll probably think of more later because there has been a lot lately.  I'll try to include whatever I think of on the next update!

Sunday, 1 September 2013

Sept. 1, 2013

So, in a couple days Katha starts Grade 2.  We had a very busy and fun summer.  Last Sunday we went swimming.  While there, Katha had 4 episodes.  I could only describe them as panic attacks.  Now, these panic attacks aren't uncommon for Katha.  However, these ones were completely unprovoked.  It finally ended with her vomiting in the pool. 

Honestly, they scared the crap out of me.  Especially since she had spent 2 days begging going to the pool and by the time she went through the fourth episode she cried and asked to go home "where it's safe". 

Monday morning I called both her metabolic specialist and her neurologist.  The nurse from her metabolic specialist immediately told me that it was probably nothing and to keep monitoring her in case it happens again.  The nurse at the neurologist told me she would speak with the neurologist on call (because Katha's neurologist has already left the hospital) and get back to me in a couple days.

In the meantime, the children's hospital called to ask if we could come on Tuesday for the swallowing assessment because there had been a cancellation and if we didn't take it, it would probably be another six months before we could get in.

So, by the time the neurologist nurse called me back I already knew I was spending Tuesday in Calgary.  I heard from her first thing on Tuesday morning and the neurologist wanted to do another EEG to see if the panic attacks were caused by a seizure.

So, Tuesday we headed to Calgary to do the two tests.  The swallowing assessment went really well.  We found out that she tends to let food sit on the back of her tongue and that is why she tends to choke went drinking.  There is not much we can do about that and will go back for another swallowing assessment when she starts to choke more.

Then we went over to the EEG.  Now, because we didn't know that she was having an EEG until that morning she wasn't properly ready for the test.  Usually they want her to sleep through the test and be very sleep deprived, which usually helps bring on a seizure.  They couldn't get Katha to go to sleep during the test, but still got pretty good results considering everything.

Katha's brainwaves are slow, which is to be expected.  However, her EEG looked exactly the same as it did a few months ago.  So, while they cannot guarantee me that she didn't have a seizure, it doesn't look like she did.

Going forward they want me to video tape an episode when it happens again.  But, it's been a week and it hasn't happened again.  In fact, she has been acting perfectly normal, which makes me hope that it was an isolated incident.

Other than that Katha continues to improve as she has been doing all summer.  While in Idaho and Montana she even started to jump into the pool all by herself.  It was amazing and we are so blessed to see the old Katha starting to re-emerge.  She hasn't been so "with-it" in years and we thank God everyday that we have been given the opportunity to make as many memories with her as we can.  We know it won't last forever, but we are so grateful to have this amazing time with her while it lasts.

So, we will go onto the symptoms:

Enlarged liver and spleen: Still the same.  Slightly enlarged but doing really well.

Ataxia (unsteady gait):  Katha has been walking really straight (for her).  Falling down isn't inevitable right now.  Don't get me wrong, she still falls down but it has reduced a lot.  Where she used to fall 4 or 5 times a day, now she only falls every other day.  In fact, while we were in Idaho this summer at an amusement park we were waiting to use a handicap entrance and they tried to tell us it was for people who were actually handicapped.  Amory kind of snapped at the guy that said it but the rest of us took it as a compliment on how well Katha is doing.

Dysarthria (slurred speech):  I find that a lot of people are understanding Katha more and more.  She still speaks really slowly (in fact one of my nieces was just asking my mom why Katha speaks so slowly) but the fact that almost everyone can get an idea of what Katha is trying to communicate is a huge accomplishment for her.  I even find she is speaking louder.  In fact, in the past few weeks I have said that she has two volumes whisper and ear drum shattering loud.  But, the fact that I have to tell her to stop yelling is amazing. 

Dysarthria (slurred speech):  As I mentioned above, she had her swallowing assessment.  She is doing well and hopefully that trend will continue .

Basal Ganglia (holding limbs at awkward positions):  I notice this every once in a while where a few months ago it was almost constant.

Dementia (memory loss):  We still battle with this and I'm sure we always will but we like to laugh at it.  (What else are you suppose to do with an 8 year old who forgets what she is trying to say in the middle of  saying it?!)  Katha's sense of humour has been an amazing blessing to help cope with everything.

Seizures:  We will continue monitoring for more panic attacks but hopefully there are still no seizures in sight.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  This still happens quite a bit but she still catches herself most of the time.

Sleep related disorders:  Katha still has trouble getting to sleep a lot and gets up early.  On days that it's really bad she tends to have a pretty bad day that day.  The start of school will be interesting.

Sensitivity to touch:  This has all but disappeared.  I have not noticed any sign of this symptom in a while.  In fact, I will probably take it off the list until it starts reappearing.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  While this is still hard for Katha to do it is happening more and more.  In fact, at the neurologist she was mentioning that she blinks before looking up.  Which is apparently a coping mechanism for this particular symptom.  I found that interesting at least.

Sunday, 21 July 2013

July 21, 2013

So, we've had a couple of appointments in the last couple weeks.  The first one was not fun.  It was the appointment with the ophthalmologist.  It would have been no big deal, but they had to lean Katha's head back to put drops in her eyes to get them to dilate.

For those of you who don't know, Katha can't look up.  For some reason tilting her head back causes her to go into a panic attack.   So, at first the nurse and I tried leaning her chair back and that didn't work.  So, then we tried laying her on the floor but she didn't like that either.   Finally we laid her down on the chairs with her head in my lap. 

We ended up holding her down while she kicked and screamed and had a look of sheer terror on her face.  All the while she was screaming "I want my mommy" while I'm trying to hold her down.

After we had finally got some drops into her eyes we were told to go back out into the waiting room to wait for the drops to take effect.  While we were waiting I realised that Katha had bit into her lip so hard that she was actually bleeding.  Once I realised this I broke down in the middle of the waiting room.  Luckily, they were having a pre Stampede parade parade for the kids at the hospital and it was going by the windows in the waiting room.  Everyone was so pre-occupied with that that I was able to have myself a little cry while everyone was watching the parade.

Once we got all that done the doctor told me that Katha's eyesight has gotten slightly worse but nothing bad.  Also, there is some damage done to her ocular nerve which is the reason her eye movements are so slow.  She also said there is nothing they can do for that.  However, they want to see her again in October when the school can voice their concerns for Katha's eyesight as well.  The doctor also recommended we get an I-Pad so we can enlarge it or put it up to where Katha can see it for school.
The other appointment we had was a physio assessment.  That went really well because it was basically an adult playing with Katha.  She loved it.  They let me know to keep her active as much as possible, gave me a few exercises that we can do with her and told me that she is very good at knowing her own limits, but don't be afraid to push her a little.  They also probably won't be able to get her into their regular cycle until after school starts.

Other than that we have just been enjoying summer.  We had a trip out to Manitoba to see Amory's dad, Don and we will be going to Montana next month.  We are very excited for that trip!

Onto the symptoms:

Enlarged liver and spleen:  Still the same, liver is good, spleen is slightly enlarged.
Ataxia (unsteady gait):  Katha is running more, which is nice to see.  She doesn't fall down too much but is still has a very heavy walk.

Dysarthria (slurred speech):  I find most of the time people need me to help them understand Katha.  Even with myself I get one or two words and can figure out from there what she is trying to say.

Dysphagia (trouble swallowing):  Katha is choking more on water and other liquids.  We should hopefully be hearing from Occupational therapy in the next few months so that we can get a swallowing assessment done.

Basal Ganglia (holding limbs at awkward positions):  I haven't noticed a lot of this lately, although she has started turning in her feet almost all of the time.

Dementia (memory loss):  I find Katha forgets things fairly quickly now.  When we go out to a restaurant and she has to go to the bathroom, by the time we get out of the bathroom she will have completely forgotten where we were sitting.  She also forgets people she's only met once or twice or hasn't seen in a long time pretty quickly as well.

Seizures:  Katha still has not had any seizures.

Gelastic Cataplexy (falling down in response to a large emotional outburst): We are always looking out for this.  It still happens mostly when she is tired.

Sleep related disorders:  She still has a hard time going to sleep.  Although, she tends to be able to wake up not to badly.

Sensitivity to touch:  I haven't noticed any signs of her being sensitive to touch in the last few weeks.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Some days are better and some days are worse.  However, even on her good days she can't look up as high as someone normally would.

Sunday, 30 June 2013

June 30, 2013

We had an appointment with Katha's neurologist on Thursday.  Katha was having a bad day and was finally able to show the neurologist her Cataplexy.  However, she also looked up really well.  The neurologist was extremely pleased with Katha's progress since starting the medication.  She is walking better, even her reflexes are better.  She said that she believes that mentally Katha is stable and she doesn't need to see us for a year.

The bad news is that she is transferring hospitals and is not allowed to take any patients with her.  Which means, that by the time we go back (as long as there continues to be no seizures) we will have a different neurologist.  The reason this is bad news is this is the one doctor Katha would be excited to go see.  I hope her new doctor will be as awesome as this one was.

Katha has finished school for the year along with Dominik.  On Wednesday Katha and I went on her field trip.  She had a lot of fun, but is definitely excited to be done school.

She has also been getting up really early and not going to sleep again until late.  I thought this was straightening itself out as insomnia is a side effect of the medication like lactose intolerance which has been going away slowly but surely.

Katha is able to eat pizza again, along with pancakes and bagels.  She is a very happy girl.  I would like to try ice cream, but am a little worried on how her stomach would react.  However, if we could do this, she wouldn't really have any eating restrictions anymore.  It would make her very happy.

We leave for Manitoba on Friday or Saturday.  Last year right after we got back from Manitoba was when they started testing for NPC.  It will be the first time Don and Patty have seen her since she was diagnosed.  We usually would let them come here this year, but we figure this will probably be the last time Katha will be able to make such a long trip, so we'd better do it while she still can.

Onto the symptoms:

Enlarged liver and spleen:  Still the same, liver is good, spleen is slightly enlarged.

Ataxia (unsteady gait):  Katha is still Katha.  She falls down, and she gets back up.  Her walk, I don't think, will ever be normal, but she makes do.

Dysarthria (slurred speech):  Katha has good days and bad days.  Sometimes, people seem to understand her, other times I have to translate for her.

Dysphagia (trouble swallowing):  She still chokes on water.  She has an appointment in mid-July with the people who will be doing a swallowing assessment.

Basal Ganglia (holding limbs at awkward positions):  She still does this and still, unless your looking for it, I don't think you would ever notice it.

Dementia (memory loss):  Same.  We're continuing to play memory games, but her memory will still slip a lot.

Seizures:  Katha still has not had any seizures.
Gelastic Cataplexy (falling down in response to a large emotional outburst):  This happens quite a bit, especially when she is tired.

Sleep related disorders:  Like I said before, she has trouble going to sleep and is often up early

Sensitivity to touch:  Katha doesn't show much signs of this other than the puppy.  His general fluffiness doesn't sit well with Katha, but she does try.  She still likes to cuddle Oreo if he is wrapped up in a towel or something.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Katha has been doing fairly well with this.  She looked up at an air balloon the other day and said there was two of them.  So, even when she can look up, she sees double.  She FINALLY has an opthamologist appointment in July.

Hearing:  I still wonder if she has sensitive hearing.  When I get the opportunity I will have this tested.

Tuesday, 11 June 2013

June 11, 2013

So, we had an ultrasound yesterday.  This morning the G.I. clinic called to tell us that Katha's Liver is a normal size and more importantly functioning completely normally.  With NPC it often effects the liver and spleen, and although Katha's spleen is still slightly enlarged, this is really good news.  Hopefully her liver remains functioning properly.

I also had a meeting today with a nurse for the Lacombe Health Clinic.  She is AADL (Alberta Aids Daily Living) approved.  We will finally start getting some assistance with Katha's pull-ups.  We now have to go to the Shopper's Drug Mart in Lacombe for pull-ups but considering how many she is going through, it's worth it.

For those of you who follow me on facebook, you will already know, but we got a dog as well.  He is really small and only 9 weeks old.  We've only had him for just over a week but it's going well so far.  One of the main reasons we got our dog (Oreo) was so that he could be someone for Katha to cuddle with when she becomes bed ridden.  We wanted to make sure to get the dog now so that they have time to bond while Katha is still doing well.

Onto the symptoms:

Enlarged liver and spleen:  Her spleen is slightly enlarged, while her liver is completely normal.  Both are functioning normally.

Ataxia (unsteady gait):  Katha is walking pretty well.  Her cataplexy causes problems once in a while, but she is very stubborn and enjoys walking as much as she can.  In fact, if she can jog a little, she generally will.  She had her "fun day" at school.  Which is what we used to call track and field day.  She really enjoyed it and when she got home she spent half an hour showing me what kind of activities they were doing.  Just while showing me she fell on her face and hurt herself, but she keeps a great sense of humour when these things happen.

Dysarthria (slurred speech):  Katha is still quiet and often needs me to translate for her when talking to people she doesn't know.  But, with the dementia that she shows, she often talks in bits and pieces.  For example in one sentence she might have 3 different thoughts about what happened in her day and will try to express that all at once.

Dysphagia (trouble swallowing):  I have received and filled out the form.  I'm just waiting for them to call and set up an appointment.  I have already called them to tell them that I am ready whenever they are.

Basal Ganglia (holding limbs at awkward positions):  She does this, but it's not noticeable unless you are looking for it.

Dementia (memory loss):  This has remained the same.  It is affecting her, however, she deals with it well, and if you remind her of what she was trying to remember, she generally will remember.

Seizures:  Katha still has not had any seizures.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  This happens probably once every couple days.

Sleep related disorders:  Katha sleeping has evened out.  She is still quite tired in the morning but gets over it quickly.  Having the dog has helped with this by having someone new to play with she won't go lay down instead of playing in the afternoon.

Sensitivity to touch:  Katha REALLY doesn't like it when the puppy nips at her (of course!) so this does effect them bonding (which I'm sure will happen eventually).  However, she will pet Oreo if he will sit still long enough to let her.  They generally just ignore each other right now.  I got her to cuddle him after his bath last night.  I'm thinking this might have to be Katha's job right now as it's the only time he's calm enough for her right now.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  Katha has been doing pretty good with this lately.  She still has trouble looking up but sometimes she is actually able to look up slightly.

Hearing:  Although her test came back normal, the doctor put in his last set of notes that he believes that she may have sensitive hearing because of all the times she complains that places are too loud.

Thursday, 16 May 2013

May 16, 2013

Katha had her first appointment with the G.I. clinic in two years today.  So, obviously, this was her first appointment with them since her diagnosis.  They had really good news.

We had taken an ultrasound of Katha's liver and spleen back in October.  Her liver was a normal size and her spleen had shrunk 2 cm.  Katha didn't start her medication until December so that means we were seeing positive results even before her neurological symptoms were improving.

Also, her blood work showed that her liver is functioning near normal.  So, her doctor feels that the disease is probably not affecting her liver and spleen at this point.  It may in the future, so they will keep her file open, but for now they are completely handing us over to the metabolic specialist.

Then we saw the metabolic clinic.  Her gaze has improved slightly, her speech is quiet and slurred, and she wasn't as interactive with the doctor this time.  However, she had been sleeping in the car, not to mention she had some cataplexy in the parking garage. That always freaks her out quite a bit.  Also, I had mentioned to her that she may have to get blood work because the G.I. clinic had ordered some to keep track of her liver functions.  So, she wasn't really into trusting doctors right at that moment. (I find if I warn her she's getting blood tests she handles it better).

The metabolic doctor also advised us that Katha can slowly start re-introducing lactose into her diet.  He said that a good place to start would be things like cooked cheese.  He suggested pizza.  THAT made Katha happy.  She hasn't had pizza for 6 months.  So, when we stopped for supper she almost jumped out of her seat when she saw pizza on the menu.  I've decided to keep her home tomorrow just in case it was too much too fast. She ate most of the individual sized pizza.

Enlarged Liver:  Is a normal size and functioning close to normal.

Enlarged Spleen:  Is currently 13 cm and functioning well.

Ataxia (unsteady gait): Katha has started to walk without turning in her feet which has resulted in fewer falls.  She has also started jumping on the trampoline again and running.

Dysarthria (slurred speech):  Katha speaks very quietly and slurs.  She is often very difficult to understand.  However, she has started getting louder, sometimes even yelling.

Dysphagia (trouble swallowing):  A clinic from Lacombe called to say that we have been referred to them for a swallowing assessment.  They are sending out a bunch of forms to fill out before we can be booked in for an appointment.

Basal Ganglia (holding limbs at awkward positions):  This is definitely one of the problems that the medication is not touching.  Katha does this a lot.

Dementia (memory loss):  Katha has recently started playing games that require some memory which has helped improve her memory.

Seizures:  Katha still has not had a seizure.  In fact, as I was unpacking our suitcases from Disney World I realised we had accidentally packed her seizure medication in the suitcase instead of the carry-on.  Thank goodness she didn't have a seizure on the plane.

Gelastic Cataplexy (falling down in response to a large emotional outburst):   This still happens quite a bit.  The doctor offered us medication to try to control this but I declined because it doesn't happen often enough for it to be a big enough concern.

Sleep related disorders: Katha has been sleeping in a little bit.  Hopefully this is a sign of her getting back to her regular sleeping patterns. 

Sensitivity to touch:  Katha is not big on people touching her but that could just be her because as soon as an employee at Universal asked if she could hug her Katha hugged anyone who would stay still long enough to accept a hug.

Vertical Supranuclear Gaze Palsy (Trouble moving the eyes up and down):  I have failed to mention this symptom before.  Katha has trouble looking up.  In fact, there are days she can't look up at all.  Today, she looked up farther than I have seen her able to in months.  Even the doctor was impressed.

Sunday, 12 May 2013


Well, we're back.  What a week!!  We were treated like royalty the entire week.  Give kids the world was amazing.  Just to warn you, there isn't much for Katha's symptoms in this one, this is simply a run down of Katha's wish coming true and then some.  It was an incredible week.  Please, don't feel bad if you don't read this one, it's mainly just me reminding my future self of everything I can think of.

May 4th:

We landed at the airport and after meeting Roger from Give Kids the World, we started off for the resort.  When we got there we were all very tired and hungry.  So, we were sent to breakfast.  I've got to say, I've never been so pampered in my life. 

They treat you so well at Give Kids the World.  They cook, they clean, and they see to your every wish.  It was truly touching that everyone who works there (both employees and volunteers) top concern was our comfort and happiness.

The place was amazing!  We stayed in a two bedroom, two bathroom villa.  Even with 7 of us, it was more than enough space.  Once we were settled in we decided to have a quiet day at the resort.  They were having horseback rides when we got there.  But, by the time we were ready to go, they were over.  It was SO hot and muggy!

The kids and I decided to go for a walk and get to know the area.  We found Amberville.  It had a massive train set and  you could push buttons to make trains go, or buildings light up.  We sat there and played with that train set for probably 30 minutes.  Then we played in the arcade with all of the old video games.  We could have spent all day just in Amberville.  There were also boats in a real moat outside that had the remote controls to inside, so you could race the boats.

We also went to see the ice cream palace that served ice cream from 7 AM to 9:30 PM.  They even had lactose free ice cream for Katha!  She was in seventh heaven!  They also had a huge water park with a swimming pool and a mini-golf course.  However, the kids really enjoyed the park that had a life-sized Candyland board in it.  Katha immediately jumped up and ran the entire board.  In fact, we had quite a time keeping her in her wheelchair all week.  It was great to see considering in November she rarely left her wheelchair in Disneyland.

We were all still so tired that night that we ordered supper in and went to sleep.

May 5th:

We went to Universal Studios' Adventure Island.  We started off with Dr. Seuss.  Katha loved 1 fish, 2 fish, red fish, blue fish.  It was a ride just like Dumbo only there was fish on the sides that sprayed water on everyone.  Katha thought it was hilarious to get Mommy all wet.  Every time we went through a sprinkler I kept covering up Katha so she wouldn't get wet.  When I realised she was trying to get me wet I thought I should let her get wet, but it was natural instinct to cover her. 

We also went on the Cat in the Hat ride.  It spun around and Dominik HATED it.  In fact, he was done with Seuss Landing altogether.  But, we talked him into going on the little train through the rest of the island.

Then we walked through another island, but there wasn't anything we wanted to see there.  We did end up stopping for a magic show that turned out to be a very long commercial for some Magic kits.

Then we got to the Magical World of Harry Potter.  Anyone who knows me knows what I was like here.  We went into a couple stores.  I took more time taking pictures of everything than buying anything.  I ended up getting a chocolate frog and some Bertie's every flavoured beans.  Then we stopped at the 3 broomsticks for lunch.  I tried butterbeer, which I expected to be disgusting but it was delicious.  Even Mom liked it!

Then I bought some shirts for me and a friend who is just as obsessed with Harry Potter as I am, if not more, then we moved onto Hogwarts.  Amory and I took a ride through Hogwarts and it was really good!  Amory wanted to go back, but because of the type of ride it was, I wasn't feeling very good after that.

The rest of the family went on a Spider-man ride then we actually met Spider-man.  He was awesome, in fact when we saw him a little while later, he remember Katha's name and told her to always be amazing.

It was very crowded at Universal and Katha and I  weren't feeling that well, so we decided to call it a day after that.

May 6th:

We went to the Magic Kingdom.  We headed straight for Dumbo, Goofy's roller coaster, Tomorrowland's Speed way, then the Ariel ride. We soon realised just how fearless Jay is.  We could take him on any ride he is tall enough for.  We got Katha a stuffed Dumbo that turns into a pillow.  The way she latched onto that thing, it was the best thing we may have ever bought her.  We stopped at Story time with Belle where kids act out the story with Belle.  Katha got to be Maurice, Dom was silverware and Jay got to be the Beast.

Then we stopped for lunch, then proceeded to the Pirates of the Caribbean, Country Bears, Mickey's Philharmagic, Aladdin's Magic carpets, the Haunted Mansion, Space Mountain, Buzz's ride, Astro Orbiter, Monster's Inc Laugh Floor, and the Carousel.  We also went on Stitch's ride, Dom got so mad at that ride he was near tears.  We also stopped for a Dole Whip because I had read on several blogs that they are the must have food of Disney world.  We had to wait over an hour in line for them.  So, they weren't all they were cracked up to be.

Then we headed back over to Dumbo and the Speedway.  Then we got on the train, went to the front of the park and watched the electrical parade.  By that time it was pretty late so we went home.

May 7th:

Katha had her makeover at 1 so we slept in a little.  We went to downtown Disney, got Katha's makeover where she was the "window princess".  She got her makeover done right in the window of the store.  It was pretty cool.  She was originally going to be Princess Aurora (sleeping beauty) but they didn't have a dress in her size.  So, she decided to Merida (Brave).  I was glad because she looked awesome in the Merida dress.

After that we headed back to Universal Studios.  We got there and went to the Despicable Me ride first thing.  All 3 of the kids loved it.  Dom and Jarrome loved the actual ride and Katha loved the dance party afterwards.  Then we went on the Shrek ride.  Then back on the Despicable Me ride where we saw someone else from Give Kids the World.  Dom had watch E.T. at school so we went on that ride.  We talked Dom onto the Woody the Woodpecker roller coaster.  He was not Daddy's biggest fan after that.  Barney was closed and we tried to go see the Blue Man Group but we would have had to pay extra for that.  So, instead mom and dad took the kids back to the Despicable Me ride while Amory and I went on the Mummy ride twice because it was so much fun.  I was so glad we did this because we seriously thought about skipping the Universal Park altogether.

May 8th:

We had the character lunch.  We got to Epcot first thing and took the Test Track.  Dom actually liked this ride which was a miracle all in itself.  Then we headed over to the restaurant. We had to wait so we went on Maelstrom because it was right beside the restaurant.  Katha got to meet Snow White, Ariel, Aurora and Cinderella.  All the kids got to do a Conga line through the restaurant with the princesses.  Katha wore her Merida dress and all 4 princesses commented on how much she looks like Merida.

Then we went to Soarin', the Nemo ride, Universe of Energy, Spaceship Earth.  We tried to go on the 3 Caballeros ride but we couldn't find the entrance.  Dad and Amory went on Mission: Space.  They both seemed to like it.

Then we headed over to Hollywood Studios.  We had a whole bunch planned but everything was closing or closed by the time we got there.  So, we went on just the rides but not most of the shows.  We went on the Toy story ride, saw Ariel's show, Star tours, the Muppet Show (we saw Phineas and Ferb but they took a break just as we got into line), and went to the Honey I Shrunk the Kids playground which all three of the kids loved!

By that time we were all wiped and went home.

May 9th:

We went to the ocean.  To Cocoa Beach to be exact.  The kids were in their element.  We pushed the wheelchair out onto the beach but because it wasn't built for the beach that was a BIG mistake.  Amory had to practically pick it up and carry it out to where we were sitting.  When we left Give Kids the World it was 94 degrees and muggy.  When we got to the ocean it was only 87 with a beautiful wind.  We swam, we collected shells, it was perfect.  The kids didn't want to leave but I was worried about being out in the heat too much with my little red-heads.

After that we went to a pirate dinner show.  The show wasn't too bad.  It was loud, overly expensive, and the service was horrible.  However, the kids really liked it so it was definitely worth it.

May 10th:

We went back to Hollywood studios and went on all the things we couldn't a couple of nights before.  This included the Beauty and the Beast show, the Indiana Jones show, the Lightening McQueen stunt show, the Toy Story ride again, Disney Junior Live on Stage.  We also went back to the Honey, I Shrunk the Kids playground.

After that it was so hot we decided to go home and take a swim.  Once the sun set and because it was Friday, and the park was open later, we decided to go back to the Magic Kingdom.  This was one of the best decisions we ever made.

We walked into the park just before the parade started and it was wall to wall people.  We cringed and talked about turning around and going home.  As soon as we turned the corner to Adventureland it was clear of people.  We got on all the rides we wanted to do again.  We even got to go on Dumbo twice without even having to get back in line.

May 11th:

We had to be out of our Villa by 11 AM.  It was also another horseback riding day.  Everyday at Give Kids the World, while we were out at the parks a gift fairy would come in and leave the kids gifts.  They left so much that we had to go out and buy 2 more suitcases to be able to get all of our stuff home.   So, while Amory was buying suitcases, I took the kids on horseback rides.  All three of them like it a lot.  Also, they gave them cowboy hats which hardly came off for the rest of the day.

Once we checked out Amory went mini-golfing with the boys and Katha and I played some video games at Amberville.  Then we all went mini-golfing (on their really cool, dinosaur themed, interactive mini-golf course), and then for ice cream. 

After that we went swimming one last time then headed for the airport.

This has been just a not-so-quick review of some of the things we did for our week.  Other things worth mentioning, Katha was constantly dancing and running.  Every time we were in the car she made sure we were either playing I spy, thinking of words that began with certain letters, telling jokes or guessing who each other were (mostly we were Disney princesses).  It was amazing to watch her try to keep her brain active. 

When we went to Disneyland in November Katha was all smiles, but that was about it.  This time, this trip, she was the life of the party.  At least 5 times a day I would have to remind her to sit down.  She would laugh with everyone else when we were making fun of Amory's navigating skills (he would get us lost every time he sat in front).  I posted SO many photos and videos on facebook because I never want to forget this week.  This blessed week that will leave me with so many memories for so long.

Every time I was holding Katha and thinking "just close your eyes and remember this moment with everything you have" she would feel me getting emotional and crack some kind of joke.  It was awesome.  I thank God for giving me this week, it was so much more than I could have ever expected or prayed for.

If you've stuck with me for this long, thank you.  I can't believe you read this entire blog that is pretty much a list of rides!  If you are ever looking for a charity to give to I highly recommend Give Kids the World and Make a wish.  They both really go above and beyond!

Friday, 3 May 2013

May 3, 2012

Today I had a meeting with a huge group of people.  It was with everyone that works with Katha.  Her doctor from the metabolic clinic even took the morning off and came to the school to discuss strategies on how to work with Katha.  Most of the information was stuff we already knew.  Mostly, what was said is that the more active we keep her, the better she will do.

There were also several other things discussed.  Her doctor was saying that she is the mildest case of NPC he has ever seen.  He also doesn't expect her to go downhill very fast with how well she is responding to the medication.  He kept saying how he expects her to be okay for the next year. He can't guarantee anything, but from what he has seen, he feels that Katha will have a fairly slow progression of the disease.

There was a lot of good things that were brought up.  I guess the biggest change is that because Katha is still loosing weight we are going to start supplementing her with some formula for her drink at meals so that she might gain a little of it back.

Also, he recommended not to try any kind of supplements without checking with him first because we don't know how it will effect her neurological symptoms as well as how it will react with the medication she is on.

The school has noticed her gelastic cataplexy is getting worse again as well.  The doctor specifically asked about it and her aid wasn't sure what it was.  When I explained it's when she falls down because of a large emotional outburst you could see the light bulb go on in her aid.  She even said "That's what that is?!"  So, I'm glad to have confirmation that it is getting worse.  But, according to her doctor, that doesn't necessarily mean her decline is becoming more apparent.  It's just that the miglastat doesn't treat the cataplexy.  Which, was good to hear.

Her teachers said that Katha's reading is improving.  I don't see much of that, but I'm still glad they think so.  She is still learning and according to her doctor, that is a big deal.

They also mentioned how Katha has been using a walker to get to and from the bus at school.  The doctor was very supportive of this so the physio therapist said she would start proceedings on getting Katha fit for her own walker which would be great.

Onto the symptoms:

Enlarged liver and spleen:  According to the doctor some of Katha's mobility and weight loss issues could be caused by this.  With mobility, if she has to lay on her stomach, it could be harder for her because her liver and spleen could actually get in the way.  Also, some of the weight loss could be from her liver and spleen getting smaller.

Ataxia (unsteady gait):  Katha continues to struggle with this.  Although, I watched her run voluntarily for the first time in what seemed like forever.

Dysarthria (slurred speech):  Katha continues to be hard to understand as well as slow in her speech but she tries hard.  She is getting a new speech therapist who is looking into a communication device to help her when she looses her speech altogether.

Dysphagia (trouble swallowing):  I mentioned to the doctor today that Katha has started choking when eating and drinking.  Her teacher and her aid immediately said they had noticed that she will usually choke when drinking as well.  The nurse coordinator said they would set up a swallowing assessment through the children's hospital.

Basal Ganglia (holding limbs at awkward positions):  Katha does this quite a bit again.  Usually whenever she is sitting, she is holding her hands awkwardly.

Dementia (memory loss):  Katha still needs cues to remember events but once she does she loves to tell stories to anyone who will listen.  Katha having a wonderful sense of humour was mentioned by almost everyone who works with her.  The doctor was encouraged by this because it means Katha still has a lot of cognitive function.

Seizures: Still no seizures.  The doctor was telling us today that a seizure is a real sign of the disease progressing to the point that Katha may no longer be able to go to school.

Gelastic Cataplexy (falling down in response to a large emotional outburst):   As I mentioned earlier, this is getting worse.  It scares Katha and causes her not to laugh as much.

Sleep related disorders:  Katha still has trouble getting to sleep.  However, she is finally over her cold and will hopefully be less tired for a while.  The doctor mentioned today that Katha will take a while longer than most kids to recover from illnesses.  Both Katha's teacher and I have noticed how long it takes Katha to get over a simple cold.

Sensitivity to touch:  Katha is still doing well with this.  She allows people to hug her and still wants to cuddle as much as possible.  Often, when just sitting near me, she will reach over and grab my hand.

The doctor recommended getting Katha's hearing checked again to see if it's overly sensitive.  We are still waiting for the opthemologist appointment as well as the metabolic psychologist. 

Tuesday, 23 April 2013

April 23, 2013

So, this past weekend we had Katha's Bon Voyage party.  It was a pool party at the Collicutt Centre.  This was put on by Make-A-Wish and we got to invite Katha's class.  About 17 kids turned up, and it was snowing, so we were pretty happy with that.   Katha went down the water slide twice by herself.  She was very proud of herself and I was proud of her too!

At the end of the party Jaclyn and Kirby (the women in charge of making Katha excited for her trip) gave us a package for our trip which includes our itinerary.  I spent the rest of the day looking through that package, that's how big it was! 

I cannot say enough good things about Make-A-Wish.  Seriously, the next time you're looking for a charity to donate to, I would recommend Make-A-Wish.  They thought of everything and have been so kind and generous to us.  I feel like we're taking advantage.

Last week, I finally started to get a hold of Alberta Aids Daily living to get some help with Katha's supplies.  After calling 5 different people they told me I need to have another assessment done to find out Katha's mental age.  The last assessment only told us what percentile she is performing at compared to her peers.  I don't know if I mentioned it before so Katha has the cognitive ability under the first percentile in relation to her peers.  So, that means, most kids her age are at about 50% she is under 1%.  However, she currently performs between 20 - 25%. 

The people that administered the assessment were actually amazed at how hard she tries to keep up.  Which gave me some peace of mind, one of my biggest fears is I'm not expecting enough from her, and not pushing her hard enough to keep up.

Jarrome actually got an assessment done today to see if he will get into Pre-K.  The results are not supposed to be in for another three weeks.  But, after explaining our situation with Katha and being worried about Jarrome she let me know that he is doing alright.  Pretty average for his age, he is ahead in some things and behind in others.  She thinks he will get into Pre-K, which would be awesome because then Dominik wouldn't have to go to school alone anymore when Katha is sick.

Katha has a cold and I kept her home yesterday thinking that she would feel better with more rest.  She woke up like she was going to get on the bus, and didn't have a nap all day.  So, today I thought "that's it, you're going to school!"  The teacher called by 10 AM to ask if I would come pick her up.  Because of Jarrome's assessment she ended up staying at school and they told me when I got there that she was actually a lot better now.  But, as soon as she saw me, she wouldn't leave my side.

We don't get on the air plane for Florida until 5 minutes to midnight.  So, that afternoon I've booked a meeting with Katha's teachers and her doctor.  He is actually driving in from Calgary for this meeting at the school.  I must say, I was shocked that a doctor who has a 6 month waiting list would take off an entire afternoon just for us.  Anyways, at this meeting I plan to ask him about supplements because Katha is still losing weight, and I think it's time we start seriously considering this.

We got a letter back from the government that we can now claim Katha as a disabled dependant on our taxes.  We can also write off any medical expenses, and we can go back to when she was born and re-file her as being disabled.  Hopefully, this will help with future medical expenses.

Other than that, I can't think of anymore updates, so onto her symptoms:

Enlarged liver: Still enlarged, still the same size, as far as I know.

Enlarged spleen:  Same as the liver

Ataxia (unsteady gait):  Katha still falls down a lot.  The other day she fell onto her back and started SCREAMING "I DON'T KNOW WHERE I AM!"  over and over again until Amory finally helped her up.  The next day she fell on her side and immediately said "it's okay, I know where I am."  It was in the middle of Jarrome's birthday party and I immediately burst out laughing because that was her greatest concern when falling.  We went on a bike ride the other day and I have to push her from behind because her thigh muscles aren't strong enough to do it by herself.

Dysarthria (slurred speech):  Katha's speech is still hard to understand but she tries really hard.  Although, a lot of the time, she's just too quiet to understand.  It gets frustrating when she won't talk above a whisper, but I think she does this because she is worried that someone won't understand her when she is speaking loud enough.

Dysphagia (trouble swallowing):  She choked on a piece of steak the other night.  I have been so worried because she won't cough properly.  Luckily, she got it up all by herself.  We have been cutting little bitty pieces for her ever since, and she hasn't had another problem.

Basal Ganglia (holding limbs at awkward positions):  I noticed her doing this just walking down the stairs at the doctors office today.  I think when she's doing something that is more difficult for her such as walking on ice or going downstairs, her limbs just tend to get held at awkward positions.

Dementia (memory loss):  Her memory is affected, but it's not as bad as it could be.  She was playing a memory game today and she kept picking the same tile over and over again because she wouldn't be able to remember what it was otherwise.

Seizures:  Still no seizures.

Gelastic Cataplexy (falling down in response to a large emotional outburst):   This is starting up again more and more.  Hopefully, it will keep itself down enough that she won't need additional medication for it.

Sleep related disorders: Katha seems tired most of the time right now.  Yet it takes a while for her to go to sleep.  Any physical exertion seems to drain her.  Although with her losing weight, the fact that she's not often physically coordinated enough to run without falling, and that she often just wants to be alone, I don't push her to get up and be overly active anyway.  The boys on the other hand never stop moving.

Sensitivity to touch:  Katha still enjoys her cuddles with both Amory and I.  She will also shake people's hand and hug other family members.

A lot of these things will be bad one day and good another.  Keeping track of her digression will not be as easy as I thought it would be.

Thursday, 28 March 2013

March 28, 2013

I decided I'm going to try to update as things happen. Hopefully, I'll be able to keep it up. We got Katha a walker for school.  Her teacher told us that the supervisors keep finding her laying on the ground outside of the school.  They don't know whether she is falling or just getting tired and laying down.  Either way, with the walker she can sit if she needs to and it will help keep her on her feet if she's falling.   Whenever I take her out of the house she generally wants to hold my hand to help her walk.  People stare at us funny all of the time because I'm holding my 8 year olds hand to walk and it probably doesn't help she could pass for 12.  Oh well, it just goes to show that you shouldn't judge other people, you never know the reasoning behind the things they do.

We saw Katha's paediatrician.  We ended up agreeing that because Katha is doing so well there's really not much she can do for us right now.  My heart skipped a beat when she told me this, but after thinking about it for a minute I agreed.  However, I did tell her she will become invaluable as this disease progresses. 

Her metabolic doctor told us that kids with this disease often end up dying of pneumonia.  Their immune system is diminished so as the disease progresses a simple flu could have disastrous results.  So, I made sure to inform her paediatrician that when she starts getting bad, we're going to need a doctor in Red Deer that knows Katha's history.

The Make a Wish foundation has set up Katha's going away party for April 20th.  The Collicut centre in Red Deer has donated passes for Katha and her entire class to go swimming that day.  Katha is very excited about it.  She was even wondering if we could invite Dominik's class as well.  But, I told her it's better if we just have hers.

While we were in Disneyland Katha fell in love with 2 rides.  One was in California Adventure, it was a Little Mermaid ride where you get into a little clam shell and go through the story of the little mermaid.  The other was in Fantasy Land and a ride we are all familiar with, it was the Dumbo ride.  I have told Katha repeatedly that while we will get to go on the Dumbo ride at Disney world, they won't have the Little Mermaid ride.  After looking around the Disney world website I realise that they have recently put in the Little Mermaid ride.  Not only that, they have put it almost next to the Dumbo Ride.  When I told Katha this her whole face just lit up!  I have a feeling we will be spending a lot of time in that little corner of Fantasy land.  And it will be totally worth it.

I love being able to talk to other parents on facebook that have kids with Niemann-Pick.  They are so supportive and amazing and know exactly what you are going through.  The downside is at least twice a month there is a notice of whose child has had to succumb to this terrible disease.  So, at least every other week your heart breaks for a family that is going through the worst situation imaginable.  And I dread the day it is us.  Sometimes, you really do need to remind yourself to enjoy it.  Even the hard parts, because it's not going to last forever, or even a long time.

Sometimes, it's just hard.  Thank God for the people in my life.

So onto the symptoms:

Enlarged liver:  Still enlarged.

Enlarged spleen:  Ditto

Ataxia (unsteady gait):  Snow and ice are not Katha's friends.  In fact, she is desperately afraid of ice on sidewalks and will avoid having to walk through snow like it's the plague. I cannot wait for the winter to be over!  She tries so hard to keep up with her friends.  I think she finds it easier to keep up with the kindergartners at her school.  I think it will be that way for a while.

Dysarthria (slurred speech):  Katha can be very difficult to understand but she tries her very best.  We have really been focusing on Jarrome's pronunciations, and Katha tries to help.  It's really quite funny to watch her try to correct Jarrome when she can't even say the word she's trying to teach him correctly.

Dysphagia (trouble swallowing):  Katha has good days and bad days with this.  Some days she will tell she no longer likes a food she has loved her entire life.  Then, the next day she will eat it again.  Her weight is still an issue, but she is holding steady at her current weight.  She is in the 88th percentile for height and only about the 60th for weight.  So, we are looking into supplements.  Hopefully we will be able to find one that she likes.

Basal Ganglia (holding limbs at awkward positions):  Katha tries so hard to keep her writing strong.  She apparently had a good day yesterday, which is awesome.  She has a hard time with writing and with playing the Wii because of this.  The reason the Wii is hard is because you have to point the controller at the screen and she can't keep her hand where she needs to to be able to do this.

Dementia (memory loss):  I think this is improving.  It has gotten a lot better since her aid got her a "me book" in which we help her write about both her day at school and her day at home.  The nice thing about this is instead of just asking "how was your day" I can ask "did you have fun playing with this friend?"  Which is just what she needs in order to be able to recall most of her day.

Seizures:  Still no seizures.  Although, last night I had a dream she had her first one, was I ever glad to wake up.

Gelastic Cataplexy (falling down in response to a large emotional outburst):   This happens quite a bit. If Katha starts to find something funny she generally looks for a place to sit down too.  It's good she knows to do this, but kind of sad that she has to.  But, the wonderful thing is, she still laughs, no matter what.

Sleep related disorders:  Katha can get to sleep usually at a fairly decent time, but she does tend to wake up early.  When she is home, if she can lay down in the afternoon, it generally helps.

Sensitivity to touch:  Katha has started to ask for family cuddles.  For her, this is huge considering just a few months ago she wouldn't let anyone but me touch her.  When we do have family cuddles we usually go to our room and it usually ends up in a tickle war.  Katha is always the first one in the room.  She also loves to be tickled.

Monday, 11 March 2013

March 11, 2013

Wow!  So much has happened since I last posted.  Katha has started on full dosage of Zavesca, and she has started to have some stomach problems again.  However, we also missed a couple of times, and it didn't get better.  I'm thinking she actually has a virus, and this will pass in a few days.

We saw her doctor in Calgary a little while ago.  He was amazed with her progress with her medication.  When we first met the doctor a few months ago, Katha sat quietly and didn't say much.  Her talking, walking, and small motor skills were very lethargic and choppy.  This time, Katha told him stories about her upcoming birthday, and what had happened that weekend. 

We were at the doctor to talk about whether or not to continue Zavesca.  After seeing her progress on the medication, he wants to keep her on it.  So, for now all we can really do is watch her.  He was also saying that because of the medication Katha will get loose bowel movements more often.

Also, she has lost almost 10 pounds since we were there last.  However, she has grown almost an inch.  Apparently, this is another side effect of the medication.  If she looses much more we are going to have to look at getting her on a supplement to help boost her caloric intake to help her gain weight. 

I have also found out that the doctor decided not to run the tests on the boys.  He has instead frozen their blood samples and if they ever start showing symptoms then and only then will he run the tests.  He did this for moral reasons, which, I get.  Even if they do have NPC it could be years before they start showing symptoms and the doctors wouldn't  treat it until they were showing symptoms.  It's just frustrating because every time they fall or don't clue into something right away, I'm left to wonder if it was a symptom or just a kid being a kid.

We also found out that we are going to Disney world through Make-a-Wish.  When they asked Katha if she could have anything in the world what would it be, her immediate response was "2 sisters".  We all laughed and they told her they couldn't give her sisters.  Then she said toys, and I was left hoping they wouldn't send her a bunch of toys she didn't want or need.  Finally (after a bit of prompting) she asked to go to Disney world.  Luckily, she was very excited by this, so hopefully they know it's not me that wants this trip but Katha.  (Although, I'd be lying if I said I wasn't excited as well!)

They are letting us take Mom and Dad with us.  We could sure use the extra help and we love having them for company.  They are also letting us stay at a resort called Give Kids the World.  It's a place that all the Make-a-Wish type foundations send kids that are going to Disney world, so it's very tailored to special needs kids.  They even have all different flavors of lactose free ice cream.  Katha is very excited about the ice cream.  They also have a life-sized Candyland board.  So, I went out and bought the game.  The kids love it so much we've played almost every night since I bought it.

Katha also had her birthday.  We were originally planning a birthday party with mom and dad, sisters and brothers and cousins.  When mom got home from Mexico it turned into a birthday party with 80 people that was princess and knight themed.  People came dressed up, and it was awesome!  Katha had such a great time.  The girls got princess make-overs and the boys got to make their way through knight school.

It was amazing to actually see all the people who show us so much support in one room.  Everyone got her princess stuff and she had SO much fun opening it.  We are slowly opening the boxes so that it can extend the excitement of her birthday.  The Rushton side gave Katha an Ipad, which she hasn't really put down since.  The Ipad was recommended to us by her speech therapist because when Katha can no longer talk she will still be able to flip through pictures on the Ipad and point to what she wants.

So far, she pretty much plays games and watches Netflix on it.  But, she still loves it and is getting used to using it.

Our friend Janine Glasier did a fund raiser for us.  As well, Katha's school, St. Teresa did a fundraiser for us as well.  When faced with such a challenge like Niemann-Pick it amazes me we can find blessings.  The people in our lives are definitely a prime example of this.  They all put in a great amount of hard work and raised a lot of money and we really appreciate everything they have done for us.

I apparently have to update more, because I'm sure I'm leaving things out!  Well, onto the symptoms:

Enlarged liver:  When we saw Katha's doctor both her liver and spleen had shrunk slightly.  Which we didn't think was even possible at this point. 

Enlarged spleen:  They had shrunk about 2 cm, which truly is amazing.

Ataxia (unsteady gait): Katha still walks on her tip-toes but can walk a straight line and hasn't fallen down much at all.   At her birthday party she was running(!) and didn't fall down until she his some ice at the end of the night while she was exhausted.

Dysarthria (slurred speech):  Katha's speech is still slurred and slow but everyone can understand her now.  She even was comfortable enough to thank everyone for coming to her party.  It warmed my heart to see her try like that and, I think, shocked a few people at the party.

Dysphagia (trouble swallowing):  We are having trouble getting Katha to eat.  Which is especially not good considering she is already loosing weight because of the medication.  I'm thinking she may be having trouble swallowing.  Although, often she tells us that food she has loved for years no longer tastes very good.  Perhaps she just doesn't know how to articulate that she is having trouble swallowing it.  She still drools quite a bit.

Basal Ganglia (holding limbs at awkward positions):  Katha still does this, you can tell especially when holding her hand because it is very awkward.

Dementia (memory loss):  Katha does show signs of memory loss.  If you can kind of remind her of what was going on, she will remember, but will often forget a lot of small daily things.

Seizures:  Still no seizures, although, Dr. Khan still seems convinced it's not if it's when.

Gelastic Cataplexy (falling down in response to a large emotional outburst): This still happens occasionally.  I really need to try to get this on film because so many of her specialists are interested in it.

Sleep related disorders:  Katha still has trouble going to sleep and she seems to be waking up earlier and earlier.

Sensitive Touch:  This has seemed to somewhat go away.  Before she wouldn't allow anyone but me touch her, now she freely gives hugs to people she knows.  She also shook the principal hand today, which was very nice to see her acknowledge someone like that.

Monday, 4 February 2013

February 4, 2013

Well, as I posted on my Facebook page, we have found out that Katha won't be getting into the cyclodextrin trials.  Honestly, this was a huge blow after talking with her doctor and him telling us this was the one chance we have at extending our daughters life at all.

I left this in God's hand knowing he would know what is best for Katha.  Sometimes, giving things up to God is really hard when you don't get the answer you were expecting.  But, I have faith that God knows more than I do, and knows what's best for my daughter.

Yesterday I got a call from Katha's teacher that the aid is starting today.  So, I drove Katha and Dom to school and met her.  She seems really nice and I can't wait to work with her more in the future.  I haven't seen her interact with Katha yet, but as she is going to be working with her every morning I'm sure they will develop a relationship quickly. 

I told her that I really  want Katha to like school again.  Her two biggest complaints is that the classroom is too noisy and she doesn't have any friends.  I also told her that I have noticed that whenever I'm at the school, her classmates all really make an effort to say "hi" to Katha but she doesn't seem to notice.

I think part of the problem is that everything moves to quickly for her, so to cope with that she withdraws and thinks that the world is withdrawing from her.  I'm hoping that if she can have someone who can help slow things down for her she will be able to interact with her peers more.

Also, when I got home, there was a message from the Make a Wish Foundation.  I had recently applied on their web-site for Katha, and today it was acknowledged that she is eligible.  Then this afternoon they called and her doctor had mentioned that the sooner we get our wish the better.  It sounds like they will be sending us to Disney World, but they will be doing an interview with Katha when she gets home from school to see if that's the best option for her.

We have also started to plan a trip to B.C. for this summer so Katha can see the ocean for the first time.  Amory's dad was telling us there's a mini-reunion in Ontario this year.  So, we asked Katha if she would like to go to the ocean, to Montana or to Gramma and Grandpa's.  Her initial concern was that she would have to swim with whales in the ocean.  Once we told her that there would be no whale actually touching her in the ocean, she voted that one.

So far, we've only been looking at cabins, but thanks to some friends on Facebook, we have started finding reasonably priced places.

For the past few weeks Katha stomach has been really bad.  She has been having a lot of accidents.  It was to the point last week that she missed three days of school.  What has been most frustrating was that she is still on her lactose free diet.  I thought that maybe fresh fruit was causing her problems, but after making sure she wasn't having any of that she was still having problems.

So, on Friday I called her doctor who told us to start her dosage of Zavesca all over again.  Because she was going to the bathroom every hour they were worried she would start loosing weight if we let that go on too long.  If lowering the dosage of the medication doesn't work we will have to take her off of the Zavesca.  I would like to avoid this because I honestly think it's helping.  Katha has been becoming increasingly aware of her surroundings and hasn't fallen down at home in nearly as much.

She has already started having less trouble with her stomach, and is in school today, so we will see how that goes.

I plan to call Katha's doctor next week because the boys test results should be in by that time to let us know if they have Niemann-Pick as well.  I can honestly say I'm scared.  It's really tough trying to be strong for one of your kids, but thankful you have two healthy ones.  It would be a real blow to find out you have more sick kids than healthy ones. 

I know that other Niemann-Pick parents go through exactly that, and I admire them for that.  I also know that if one or both of the boys have it we will deal with it.  I just pray we don't have to.

I don't think there's anymore updates.  Hopefully, the next one will be a happy one saying both the boys are fine!

Here are the symptoms as they stand now:

Enlarged liver: Still enlarged

Enlarged spleen: Still enlarged

Ataxia (unsteady gait): Katha still walks on her toes constantly.  In the snow her hand needs to be held constantly because she just doesn't have the balance to navigate the snow.

Dysarthria (slurred speech):  Katha still speaks very slowly.  She has, however, been able to express herself more clearly and even tells us stories once in a while.

Dysphagia (trouble swallowing):  I've been noticing Katha has been having more trouble eating.  Not only is it getting harder for her to feed herself, she has trouble swallowing bigger pieces of food.  When she coughs, it's like she can't fully cough, which scares me if she ever really chokes.

Basal Ganglia (holding limbs at awkward positions): Katha still does this quite a bit.  It makes it difficult to hold her hand when helping her walk.  After being on facebook with other Niemann-Pick moms some have mentioned that giving them a gait belt.  Which is a belt you can hold onto while they walk to ensure they won't fall down.  I think this might be something we invest in soon.

Dementia (memory loss):  Katha has been improving in this area.  She is starting to remember things that happened a couple days ago.  Where before, if it wasn't something big, she probably wouldn't remember it.  However, recently she has recalled small things that have happened in day to day life.  Things such as which toy she was playing with which day.  Small things that we would think nothing of remembering is a big deal for her.

Seizures: No seizures, hopefully it stay that way!
Sleep related disorders:  Katha still has trouble going to sleep and waking up.  But, all of my kids seem to have that problem.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  Katha hasn't had a really bad episode of this since January.  I hope it stays that way.

Sensitive Touch:  Katha has started initiating hugs with other people again.  She will give her grandparents hugs hello and goodbye.

Monday, 14 January 2013

Jan. 14, 2013

So, on January 10th, we went for an EEG.  For those of you who don't know what that is (which I certainly was unsure)  they take a bunch of little wires and stick them to your head using what looks like a mix of Vaseline and wax and try to find out if you are susceptible to seizures.

They want you to sleep through this test.  So, they had us keep Katha up until midnight and get her up at 4 am and keep her up until the appointment at 8 am.  Which, actually, was a lot easier than I even thought it would be.  I rented a hotel room for the night because my thoughts were, the shorter the drive, the easier it would be to keep her awake.  I think it was a good idea because the roads were TERRIBLE because we were in the middle of a blizzard.  In fact, the technician was late because of the roads.

Katha got to the test exhausted, and the technician was having a bad day, I think.  Katha was absolutely sure this guy was going to hurt her in some way.  So, when he went to measure her head to figure out were to put the wires, she FLIPPED.  She broke down in a way I haven't seen her break down in a while.  He also only tried for about 2 minutes before he threw his pen and went for help.

The woman he brought back to help him was a godsend because she almost immediately got Katha settled down and got her head measured out and the wires on.  However, the guy was still the one to run the test.  Katha, still convinced the guy was out to get her, refused to go to sleep.  She kept saying that he was just waiting for her to fall asleep to put needles in her head.  I felt so bad, but she was not going to listen when I told her she was fine.

Exhaustion finally won out and she fell into a light sleep for about 10 minutes.  Then they put on a strobe light and flashed it in her face for about 5 minutes.

After the test we went to see her neurologist.  Katha was excited about that part because she loves her neurologist.  The test showed that Katha did not have a single sign of having a seizure.  Dr. Smyth also told us that she has been doing a lot of research about NPC and found out there's a 50% chance that she will never have a  seizure and that's apparently on the pessimistic side. 

That news was like a great weight taken off of our shoulders because we were informed that it was just a matter of time until her first seizure.  To find out she may never have one?!  It was hope where there was none before and that's a wonderful feeling. 

Other than that, the doctor noticed she hadn't regressed anymore since our last appointment.  Which is also a big deal because she was.  I really think the Zavesca is helping.  She walks a lot better, and hasn't really fallen in a couple weeks.  Although, the day of her test she was so tired that she wasn't doing anything.  It was like she was in a trance.  You would call her and she would just look through you.  It was scary.

Also, the day we went for the test my mom showed me an article in the Stettler paper that my cousin wrote about our experience with the Bashaw Community Theatre.  It was amazing.  If you have access to a Stettler or Bashaw paper, I highly recommend it.  It's all about the benefits of living in a small town and the example of the generosity of the theatre group shown to Katha.  It really was an experience I will never forget.

I got an e-mail from the cyclodextrin trial.  It was on hold because the FDA was concerned the medicine and the tube that goes into their head is not compatible, but apparently they have resolved that.  Hopefully we will know whether or not Katha is in the trial in the next month or so (fingers crossed and lots of prayers).

So, onto her symptoms:

Enlarged liver: Still enlarged

Enlarged spleen: Still enlarged

Ataxia (unsteady gait):  That walks on her toes all of the time.  However, she is no longer stomping when she walks and hasn't fallen down in a while.

Dysarthria (slurred speech):  She still talks really slowly (slower I think) and is still quite hard to understand.  However, she seems to be more "with it" and able to communicate what she's thinking more.  If your willing to let her take her time to say what she needs to say, she can carry on quite a conversation.  But, you have to be very patient.

Dysphagia (trouble swallowing):  She still drools, and it happens quite a bit.  When she coughs or chokes, it's like she can't cough very hard.  I don't know whether she's trying to do that or whether it is a symptom.

Basal Ganglia (holding limbs at awkward positions): I still notice her doing this once in a while, but it's not constant anymore.  She also has gained some more small motor skills.  She still prefers her drinks in something with a lid because she still has some trouble holding things.

Dementia (memory loss):  I thought this was becoming a problem, but recently she has started talking about things that have happened in the past.  Which, she wasn't for a while.  I think her memory is improving slightly as well.

Seizures:  No seizures, hopefully it stay that way!

Sleep related disorders:  Katha hasn't been as tired after school when she does go.  She has been more alert since starting the Zavesca, but has continued to stay up later than usual.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  This has definitely improved.  She is able to laugh again!  At her appointment the doctor wanted to see it and since she was tired, I thought she might do it, but I couldn't get her to fall.  Of course, the next morning while mom and I were giving her a bath, she did it.  That was mom's first time seeing it.

Sensitive Touch:  Katha has started letting other people touch her again, even if it's just holding her hand or a quick hug.  She still doesn't really liked to be hugged by people other than Amory, the boys and I, but she will do it.

Bladder control:  This remains to be a problem.  It's better when she goes to school, and she doesn't have nearly as many accidents at home anymore but it still happens.  Of course, the day of her test she had the worst reaction to the Zavesca I seen her have yet.  In fact, I had to stop at home from Calgary to mom's to get more pants because something she ate must have had milk in it.  She had 3 accidents because of loose bowels in the hospital but after that she was fine.