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.