I was diagnosed with
glycogen storage disease when I
turned nine months old; my liver was the
size of a basketball in my stomach.
Jerrod is a patient who contacted me about five
years ago. He was not doing well. He was
giving up hope because his health was
deteriorating.
I lived in and out of the
hospital and it was like that my entire
life. I had to struggle at school; I had
to struggle with everything in life.
Glycogen storage disease is a disorder
where sugar gets into the liver but
can't get out.  With advances in care
people are doing much better.
Complications are disappearing, but
there's one problem: they have to be
perfect.
In this disorder cornstarch is
given every three to four hours and
anytime a dose is delayed or missed the
blood sugars fall and they can have a
seizure or die.
I can't make a mistake
whenever it comes to this corn starch
regimen or my diet. Because, I mean, if I
do that can be my life.
Even to this day,
even though that, with all the advances
in treatment, children are dying because
their parents have overslept.
I get tired
of having to drink the corn starch every
three hours; worried that if I go to
sleep at night I'm not gonna wake up.
It affects people long-term and that's
why this gene therapy is so important.
What gene therapy is, is basically
delivering a new copy of the gene to the liver.
We think this will be like a
vaccine. Patients will get a treatment, we
hope this will allow them to stop the
cornstarch, and liberalize their diet, eat
some fruit for the first time!
I would love to be able to go into a into
a grocery store and buy corn starch just
to cook with instead of having to use it
to drink every three hours.
This has been a dream. It's been a
20-year journey and the team was willing
to relocate to Connecticut because of
the unit that was built here and the one
that was built at Connecticut Children's,
and what's happening here is truly unique.
We've heard from people from all
around the world and doctors from
around the world.
What I hope through
this trial is that we find out that they
can move forward, that they can put this
out on the market for everyone to use.
There are over 400 genetic diseases of the
liver and we hope that the experience
learned from glycogen storage disease
and showing that it works in the liver
will then be able to help millions of
other people with more common disorders.
I don't want any other kid to have to go
through what I went through as a kid
It's not a life that I want for anybody.
A 30 minute IV dose, if this works, will
keep people from having to deal with
that. And I don't think there's anything
in the world that would make me happier.
This is what I'm here to do is I think
I'm here to help people like this.
There's not much I can do for this
community, but I can do this.
