Around junior high, things started going not
in the right direction.
And so Samantha had always been a really good
student, and she was having difficulty in school.
She was a three-sport athlete and she was
having problems with her coordination.
My husband had noticed that when Samantha
took a swallow of milk or water
she had a slight tremor.
And so we mentioned that to the doctor and
then, from there, we started down the neurologic path.
Niemann-Pick type C is a progressive and ultimately
fatal neurological disease where cholesterol
cannot be processed normally in cells and
gets stuck in a structure called the lysosome,
which is kind of like the recycling center
of the cell.
There are no cures for Niemann-Pick type C.
On October 17, 2011, so I still remember the
date, Haley was having seizures and we tried
to treat her seizures with medication and
it was unsuccessful.
They did some testing and it came back with
evidence of lysosomal storage disease.
The classic presentation is for a child who’s
around 6 or 7 to start kind of losing
skills in school and become more clumsy and
have difficulty following direction.
And then go downhill from there, sometimes
developing seizures.
But then you can also see patients who present
in their teenage years and adults.
Articles and the news that you read is, you
know, it’s painted as doom and gloom because
there’s no hope.
But we decided that, you know, nothing’s
gonna happen if we just sit around, so we
started getting involved.
The abnormal cholesterol processing affects
brain cells more than most other kinds of
cells in the body for most patients.
So the patient has a progressive increase
in their neurological impairment until ultimately
they die.
Pretty devastating.
You know, you go from a completely healthy,
somewhat normal
normal family, you know, doing everything
and you get a diagnosis like that.
Oh, I’ve been biking.
We kind of foreseen that light go out of her
eyes and she was disengaging more.
Well, I remember being kind of like mopey.
I was always very drowsy and, I don’t know,
I just found that to be a bit odd.
Dr. Kravis is our fifth doctor.
You know, it’s amazing how many doctors
are just, don’t like to take the tough cases.
My wife found Dr. Kravis through some connections,
and then it’s been a godsend.
So Haley was my first child NPC patient ever.
That really changed my life, actually, because
I knew this was gonna be a huge amount of work.
I knew she wasn’t getting this anywhere
else in Chicago and I just felt like I wouldn’t
be able to sleep if I didn’t do it.
Notre Dame was having a Rare Disease Day Conference.
After the conference, we sat down with Dr.
Kravis and I think I just sort of butted in
and I said, “Would you treat Samantha?”
And she didn’t even hesitate, she said "Yes.
You have to be able to get to Chicago
every two weeks from Minnesota.”
We said, “OK, we can do that.”
There’s a promising new treatment that is
currently in trials.
This treatment is called cyclodextrin, which
is a circular sugar molecule that has the
ability to pull cholesterol out of the cells
and reduce the amount of cholesterol that’s
being stored in the cells of the
body.
So after we got on the drug, I would say within
a couple of months, we started noticing everything change.
The light came back in her eyes.
She just started talking.
Now it’s hard to get her to not talk
so much, which is wonderful.
But her balance has improved.
It was very obvious that Haley was progressing.
As far as quality of life, you know, she had
some swelling issues before treatment and
now all these issues are gone.
Her gait is better.
Much more involved, much more active.
The cyclodextrin has to be given where it’s
going to have its effect.
You have to give it into the brain and the
spinal fluid and, therefore, we have to give
it through a spinal tap.
I don’t know where Haley would be if she
wasn’t being treated.
She would probably be in a wheelchair.
She would have been on a feeding tube.
It doesn’t hurt that much.
I mean, I won’t say it doesn’t hurt at
all, but it doesn’t hurt that much.
I watch her face when she gets treatment and
she usually has her headphones in, listening
to music.
Her facial expressions don’t change.
Never any look of pain on her face.
Pretty easy.
All right, good job.
She sings songs that she used to sing four
or five years ago.
Her memory’s back.
You know, there are certain things that you
will never get back but, you know, we are
very happy with where we are right now.
In pediatric neurology we have all these diseases
that we just have to go in and say to the
family, “You know, we don’t have any treatment
for this.”
And this is a situation where we might be
changing the disease.
And for a child neurologist that has had to
do that kind of talking with families all
these years, this is very exciting.
My goal is to make sure that all our NPC kids
are the first survivors of this disease.
It was like, we can have a life.
We can live this way, you know?
And then we’ll just wait for the next best
thing.
