Wednesday, 31 October 2012

Halloween 2012

So, today was the first doctors appointment with the metabolic specialist.  There was lots of good news, and lots of bad news. 

First we let Katha, Dom and Jay all wear their Halloween costumes.  Katha was Cinderella, Dom was a knight and Jay was a pirate.  They looked adorable.

So, we met Dr. Khan and he knows his stuff.  Which, is awesome, because lately I've really felt like I knew more about this disease than any of her doctors.  Not so with this doctor.  I'll try to remember everything we talked about.

1) Treatments: 

Zavesca (Miglostat) - We're going to try to put her on this first.   The most prevalent side effect is loose bowels to avoid this we have to be on a Lactose free diet for 2 weeks before she is on the medication.  The problem with this medication is that it only slightly slows down the effects of the disease.  In fact, he said that it probably wouldn't extend her life at all, but possibly slightly raise the quality of life.  It will cost between $40,000 - $60,000/ year.  He is having a conference call with the drug company tomorrow to see if they would be willing to give us this medication for free.

Bone Marrow Transplant - All this would do is reduce the size of her liver and spleen and because it would have no effect on the brain/blood barrier, would have no impact on her neurological symptoms.  In other words, she would go through a lot of pain with little to no result.

Stem Cell Replacement - To find matching cell for Katha, the cells would have to have NPC in them, which would mean we're replacing defective cells with more defective cells.  Because this is a genetic disease, we would have to change Katha's genetic make-up.  Which, they don't know how to do and won't anytime soon.

Cholesterol Medication - Has been shown to have no impact on NPC at all

Cyclodextrin - By far the most promising drug by far.  On animals, it has been shown to actually improve the "patient".  I have to get a hold of the National Niemann-Pick to find out if they have more information on the first human trials then the doctor said he would do whatever he could to get her in that trial.

2)  The boys - we did not do the blood tests today.  The doctor casually mentioned blood work in front of Katha and she had a melt down.  So, he is sending the requisition forms to the Lacombe hospital and we'll do the blood work there.  Dr. Khan also told us that is it not good to know if the boys are carriers of the disease even if they don't have it themselves.  He told us that in families with NPC the symptoms in siblings often follow the same patterns, because the boys don't show any of the symptoms Katha does, chances are they don't have it, but they will still be tested.  The problem with knowing that they are carriers is a) insurance companies can use it against them down the road and b) it can be a very heavy emotional burden to know you are a carrier of a deadly disease.  Kids that have been told when they are younger that they are carriers have often told their parents later on that they wish they didn't know.  So, when we do get the blood test results they will simply tell us whether or not Dom and Jay have NPC, not whether they are carriers.

3) Degeneration Progression - The doctor told us he expects Katha to live 3-5 more years. 

4)  What do we do now - We start the lactose free diet.  Dr. Khan wants an evaluation done to know where she is developmentally now.  Also, he wants a psychologist to look at her once a year from now on the see the difference.  We will be doing a hearing test, vision test, EEG, abdominal ultrasound, liver function test, and several other tests to see how her body is handling the disease thus far.  He wants all these tests completed before Christmas.  Apparently she is more prone to infections so we have to be extremely careful around her.  All of us will need flu shots, and washing our hands constantly if we are sick.  If she so much as spikes a fever, we're to call either Dr. Khan or Dr. Du Plooy (her paediatrician) immediately.

5) Travel - He liked the fact that we are going on a trip to Disneyland.  The only concern is that we are virtually waiting for her first seizure and there is a chance that this can happen while we are down there.  So, we'll have to avoid rides with flashing lights.


Enlarged liver:  No change

Enlarged spleen:  Apparently it's over sized by 6 cm.  (Very large)

Ataxia (unsteady gait):  We are thinking that we might have to put Katha into a wheelchair a lot sooner than we wanted to.  Tonight while trick or treating she fell down 5 or 6 times in the same spot.  Her small motor skills are diminishing as well.  She often can't hold small objects and drops large ones.

Dysarthria (slurred speech):  Katha's speech is getting slower, and she often forgets words.  She still stutters a lot too.

Dysphagia (trouble swallowing):  Katha continues to eat well, and still drools quite a bit

Basal Ganglia (holding limbs at awkward positions):  No change

Dementia (memory loss):  Things need to be repeated to Katha several times before she will remember it.

Seizures:  Apparently, we're just waiting for her first one, still has not happened.

Sleep related disorders:  Katha continues to get exhausted easily.  Even after 12 hours of sleep.

Gelastic Cataplexy (falling down in response to a large emotional outburst):  This is happening with more frequency

Sensitive Touch:  Katha likes to be hugged but still has a hard time just being touched or rubbed on the arm, back or leg.


Bladder control:  Katha no longer seems to be able to control her bladder, we now have to put her in pull-ups all of the time.

Hearing Loss:  Katha seems to have trouble hearing us.  She almost walked into traffic the other day because she couldn't hear me yelling at her.  Her hearing will hopefully be being checked shortly.

Friday, 26 October 2012


So, the call finally came.  She has tested positive for NPC.  It's not a big surprise.  It would have been more shocking to have it come out negative.

On October 31 we as a family are heading to the children's hospital in Calgary to test Amory, Jarrome, Dominik and I for the mutations in Katha's genes.  If both mutations are from either Amory or from me then it wouldn't actually be NPC.  But, the doctor says that since she has almost all of the symptoms, it's just a formality to cover the doctors butts. 

We're testing the boys because we want to be sure that they don't have it as well and are just not showing symptoms yet.

We found out October 24, 2012 at 3:30 p.m.  I don't think I'll ever be able to forget that date and time.  Afterwards, I immediately called my mom, and later that night we went over to discuss everything that was going through Amory and my head.

One of the things we started to think about was how were going to have to move.  Amory wants to build but I don't know if that's such a smart idea.  The reason we have to move is because with my back I won't be able to carry Katha up the stairs, so we'll need a bungalow home.  I'm worried if we build that we won't have the house we need before Katha needs to be carried.

We also talked a lot about treatments at mom and dad's.  We're hoping to get on the cyclodextrin trial, but that would probably mean having to go to Maryland a lot.  Also, with the Zavesca the main side effect is loose bowel movements.  This would probably mean that Katha would have to wear a diaper to school.  I cringe thinking about the first day she has a huge accident at school.  She will be devastated, but other than taking her out of school now even though she can absolutely still go, I don't see how I can prevent this from happening.

I explained to her tonight that mommy was wrong all the times I got mad at her for not going to the bathroom on time.  I told her it's not her fault and that it's because she's sick, and I promised her I would never get mad at her again for not making it to the bathroom, but she still has to try.  But, I also explained that she has to tell the teacher if she's had an accident.  I think she gets it now, I hope so. 

I told her that eventually she is going to have to wear a diaper all the time because that's what this sickness is going to do to her.  I asked her if she remembered having to ride in a wheelchair after her MRI, she did and she thought it was fun.  I told her that's good, because you're going to need one so you don't fall down all the time.

After discussing all of these heavy topics, mom and dad told us that they want to take us to Disneyland right away.  We're leaving Nov. 26, one month from today.  I had to drive to Calgary today to get the boys some passports.

So, here is where Katha is with her symptoms:

Enlarged liver:  It's still the right size, she just had blood work done, and has an ultrasound booked for Nov. 15 to see how it's functioning.

Enlarged spleen: Still slightly enlarged

Ataxia (unsteady gait):  Katha's walk continues to get worse.  It is by far the most noticeable symptom about her.  It causes her to fall 2-3 times a day.  We plan to start putting her in a wheelchair if she has to walk long distances.  I'm going to start researching where I can get a wheelchair from a health clinic.

Dysarthria (slurred speech):  It's definitely slowing down.  You can actually watch her trying to get the words out of her mouth, they just won't come.  She will sometimes stutter when she is really tired as well.

Dysphagia (trouble swallowing):  She drools more, but still is eating very regularly and large amounts.  In other words, she still loves her food, and I thank God for that.

Basal Ganglia (holding limbs at awkward positions):  She still only does this when concentrating hard on something else or really tired.

Dementia (memory loss):  You have to repeat things to Katha several times before she remembers it, but still doesn't seem a huge problem yet.

Seizures:  Katha still has not had a seizure.

Sleep related disorders:  Katha comes home with very little energy and often is exhausted.  I spoke to her teacher about this today and she is willing to let Katha take a small pillow and blanket to school so that she can have a nap if needed.

Gelastic Cataplexy  (falling down in response to a large emotional outburst): Almost every time she laughs she falls down. We no longer have to tickle her, it can happen whenever she's happy.

Sensitive Touch:  She still has trouble touching fuzzy things but still very much enjoys hugs and cuddles whenever she can get them.  She is often very ticklish in the most unlikely places (between her shoulder blades).

Monday, 8 October 2012

The back-story

On March 7, 2003 I was rushed into the hospital to have my first child.  By the time my mom and I made the hour drive from her house to the hospital my doctor was at, I was fully dilated.  I had been to the hospital just day before with Braxton Hicks contractions or false labour.  At the time, it was discovered that my baby was breach.  So, by the time I got to the hospital my doctor knew he would have to put me under general anaesthetic so I could have a c-section.

This is how my daughter had made her way into the world.  She was 5 pounds, 3 ounces and 3 and a half weeks early.  Not that much, by any stretch of the imagination.

However, something was wrong.  She was immediately jaundice and her liver and spleen were enlarged.  After a few days we realised she kept having tremors from caffeine withdrawal.  Not to mention sleep apnoea (every time the nurses gave her a soother, she would quit breathing). 

They had to give her caffeine for the sleep apnoea, so that solve the tremors too.

She had trouble gaining weight and her bilirubin levels wouldn't come down, but after a month of fighting and not getting any answers, the doctors finally let her out of the SCN.

We started taking her to the Children's Hospital and we were there a lot of her first year.  But, eventually, her bilirubin levels came down, and she started gaining weight.  By six months, she was pale just like her mommy (no longer yellow) and a chubby, happy baby.

Things seemed to be looking up.  Her liver went back to normal size.  Her spleen shrank to just above normal, and she was developing a little late, but nothing that couldn't be explained by spending most of her first year in the hospital.

As school became closer and closer, it was more apparent that Katha was not keeping up to kids her age.  But, whenever I took her to the doctors, I couldn't really pin-point how she was behind.  It was just a feeling in my gut that she was different.

Katha started Pre-school and the day before she quit the person who identifies and works with "special children" told me that she thinks that Katha needs to be evaluated.  So, I went to work.  I asked her doctor to get her evaluated, he told me that the school does that or her paediatrician.

I asked the Pre-school, and they told me to call the elementary.  I called the elementary and they told me to wait until she was in kindergarten.  So, I took the alternate route, I called the paediatrician.  But, her paediatrician was no longer a paediatrician.  I called the children's hospital and they told me they needed to have another referral from her paediatrician.

So, I went back to our regular doctor to get a referral to a new paediatrician.  By the time I finally got to a paediatrician, she had started kindergarten and I was asking them to do an evaluation.  They told me to go to her paediatrician while they set up occupational and physical therapy.

Well, at least we were finally getting somewhere.  The occupational therapist was the first one who recommended getting her to a neurologist.  The paediatrician was the one who got her to the genetic specialist.

By this time it was more than apparent that something was wrong.  Katha had always been a little clumsy, but now it was becoming alarming.  She falls down all the time, she has crying fits for any little thing, and she's scared of the most unusual things, like teddy bears.

When we finally got to the neurologist, she noticed that it wasn't just her balance and co-ordination that was off, the reflexes in her eyes and tongue were slow as well.  She ordered an MRI to see if Katha had had a stroke when she was born.

After 4 months we finally got the MRI done and in the meantime an appointment with the genetic specialist.  When getting into the genetic specialist, they had the results of the MRI.  When they told me it was completely normal, they were surprised to see the look of disappointment on my face.

When I explained that we had just been waiting 7.5 years for a diagnosis, they seemed to understand.  After examining Katha, he told me that he wanted to re-test for Niemann-Pick.  He said that he thought they got a false negative the first time.  I barely remember them testing for Niemann-Pick before.

The only reason it stood out as a test was because it was the skin biopsy, and she still has a scar from it.  Not to mention, the test results took 2 years to come in.  When getting the test results the first time, it seemed like the test just slipped everyones mind.  I remember fighting for months to find out the results when they finally told me that the test results had come in months prior and were negative.

I couldn't remember much about the disease itself except eventually she wouldn't be able to look up.  Also, I had been kind of thinking of it because just in the last couple months, I noticed that Katha wouldn't look up anymore, and panicked if you tried to make her.  The doctor confirmed that she no longer could look up.

He told me that the test was now a blood test because of recent advancement with the disease and they now have a therapy that slows down the effects of the disease.  He kept stressing that we would have an answer, and said we would discuss the disease more when the test results come in.

I left with the requisition for the blood work.  As I was driving over to the hospital I remembered why I was freaking out over this test the first time.  The disease was fatal.  Of course, by the time I got to the hospital to do the blood work, I felt like I was going into shock.  Suddenly, there was nothing more important then getting these blood tests done today.

But, the doctors appointment had been so late the lab was already closed.  So, I rushed out to the Lacombe hospital.  But, their lab had just closed as well.

So, I took Katha home and told Amory that we had to go out first thing in the morning to get the blood tests done.  Especially since we were leaving the country for 2 weeks the day after tomorrow.

Amory had questions all his own.  Mostly "wasn't that the disease where eventually she wouldn't be able to eat, or walk?!"  Katha was sitting in the kitchen as he asked me this question, so all I did was nod, hoping that she wasn't paying attention. 

Unfortunately she was, to which her immediate response was "BUT I NEED TO EAT!"  It made Amory and I laugh, because of course she wouldn't be worried about not being able to walk or talk, it's eating that's really important.

It wasn't but an hour before I was on the computer looking up NPD.  Looking through the symptoms of NPD type C was like checking off a list of all of Katha symptoms and things we thought were personality quirks, but were apparently symptoms of a disease.

So, this is where I am.  Still, waiting for the results, but much better educated on NPC.  I have now had 3 different doctors tell us that they will be shocked if this isn't what she has.  In fact, her paediatrician is so convinced this is what she has, she has already urgently referred her to a metabolic specialist at the Calgary Children's Hospital.

So, now, the reason I wanted to start this blog: to keep track of the disease, and record for other parents that might be going through the same thing exactly what this disease does to my little girl.  Because that has been my biggest concern, what stage are we at, and how long do we have. 

I know that every article I can find about this disease says that every has their own pace but I just want a record of what this disease is to us.  So, here is a list of the symptoms of NPC and how these symptoms have materialised in Katha:

Enlarged Liver:  She had when she was born, but is now a regular size.

Enlarged Spleen:  Her spleen is still slightly enlarged.

Ataxia (unsteady gait):  Katha walks with her ankles turned.  She falls down a lot (at least twice a day).  She apparently got a bloody nose at school the other day because she fell down and hit her face into the ground.  This symptom causes me the most stress because I don't want to embarrass her by putting a helmet on her, but I worry that that may not be far off for her safety.

Dysarthria (slurred speech):  Katha talks very slowly and will often only speak if asked a direct question.  She is often difficult to understand and slurs.

Dysphagia (trouble swallowing):  Katha doesn't have any problems swallowing but does drool occasionally.

Basal ganglia (holding limbs at awkward positions):  This is what most people associate with a mental disability, when people hold their wrists at odd angles.  Katha as started to do this, but only occasionally when she is concentrating a lot on something else.

Supranuclear gaze palsy (not being able to move eyes up or down):  Katha has a very hard time even tilting her head to look up, according to the doctor her eyeballs will no longer look up.  I have seen her look slightly up occasionally, and she gets scared when doing it.

Dementia (memory loss):  Katha often forgets simple things like where her classroom is, what we're doing that day, or what day of the week it is.

Seizures:  Katha has never had a seizure that we know of unless her occasionally spacing out is a small seizure, but even those are rare.

Sleep related disorders:  Katha has always really enjoyed sleep but lately it is hard to get her motivated to do anything.  Once she's up and out of the house she tires quickly and wants to go take a nap.

Gelastic Cataplexy (sudden loss of muscle tone associated with laughter):  Katha has done this as long as I can remember, we always assumed it was a personality trait.  (When you tickle Katha her legs give out, it also happens if she get really scared.)

Sensitive touch:  I read in a lot of different parents blog that their kids had an intensified sense of touch.  Katha for a couple years now has hated any fuzzy toy and we have always said that it seemed like she didn't like the texture of it.  In the parents blogs, however, this turned into the child being in pain whenever someone touched them.  Katha still enjoys being hugged and cuddled, but still hates anything too soft or fuzzy.