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.

Symptoms:

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.

NEW SYMPTOMS:

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.