Hello?
Hello?
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My mom might say this is too loud,
but I don't think so.
She was driving last Friday on the way
to Cincinnati on the snow white
[INAUDIBLE eve].
>> Haley's very,
the words I would use is social,
talkative, which is part of social.
[SOUND] [LAUGH] She does
whatever other teen,
tween [LAUGH] girls like to do.
People, I think,
don't expect when they see her doing.
Maybe they don't think
they can talk to her.
And once they do, I think they're very
surprised of how social she is and
how smart she is.
>> I'm at the Sam Hunt concert in Raleigh,
North Carolina.
>> She's definitely one of a kind and
keeps people on their toes.
[LAUGH]
>> Keeps mom on her toes?
>> Keeps everybody on their toes.
[LAUGH] Hi, I'm Crystal.
>> Hi, I'm [INAUDIBLE],
I'm eight years old.
>> And we've been going to Duke Children's
Hospital for the last eight years.
Haley was diagnosed when she was about
six months old with Pompe disease,
which is a rare muscular disease
that affects all her muscles.
>> The first and
only life saving treatment for the disease
was developed by a group of researchers
at Duke University Medical Center.
Without the therapy called Myozyme,
babies with Pompe disease typically
die around their first birthday.
>> Since the approval of enzyme
replacement therapy with Myozyme,
or Lumizyme as we call it in the United
States, it's been transformative for
individuals with Pompe disease to
a point where many of them can sit.
They can stand, they can walk,
they can run, they can go to school.
We have our first babies that were
treated now heading to college.
However, there are still
issues that persist.
>> When Haley was diagnosed,
she was about six, six and a half months.
Her heart was severely enlarged,
and a couple more weeks,
she probably could have passed away.
Her state in Virginia or
in North Carolina, they don't do
a newborn screening for Pompe disease.
Had the newborn screening been done,
we would have known from the beginning and
could've prevented the heart
complications that came.
>> As she grew from this little
six-month old now to a thriving preteen,
Haley has inspired may of us to think
of the importance of newborn screening.
Because we've seen it, that if you sat
a child in therapy in the first week of
life versus even the first month of life,
we've seen differences in outcome.
And the lessons learned from Pompe have
translated to other rare diseases as well.
So, we have a lot more work to do.
>> Keep going, Hailey, almost.
Keep going, you're doing great.
Come on Hailey, you can do it.
>> Pass the test.
>> Keep going and stop.
[APPLAUSE] Awesome, high five.
You got 92%, very good.
>> I know it's a devastating
day to hear it and
to find out these life expectancies and
how severe it is.
Definitely, you got to through
that grieving process.
But with everyday,
kinda research that's being done.
All the technology and the new
treatments and the current treatments.
And so you've gotta just say, well,
I'm gonna do the best that I can do and
try to keep them as healthy as I can.
And just do what you gotta do.
>> If you can change someone's life for
the better,
that's why you enter
the field of medicine.
And I always take the words of my mentor.
Where there's passion,
there's always a way forward.
And I think the passion and the caring and
wanting to make a difference,
that has allowed us to move the needle and
move the field ahead.
>> Hair fix.
>> [LAUGH]
>> Makeup.
>> Yeah, I'll be in middle school,
I can't believe it.
I feel like I just finished like
the second or third grade, and now,
I'm going into middle school.
>> So what would you tell other kids who
might be in the same place that you are?
>> Just be happy and
do the best you can in everything.
And don't act upset about your disease and
what you're not able to do.
Just live with your life,
time flies by very fast.
I'm really looking forward to
see what the future holds.
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