>> I had no idea I was the 500th dose
until Dr. Crawford came to me and said,
"hey by the way, you're the 500th dose
and we want to do this cool thing with you."
I'm Sam, I am a therapist.
I have SMA Type 2.
>> The SMA is spinal muscular atrophy,
which is a genetic disease,
it's much like Polio,
causes kids to be profoundly weak.
It's curious in that it exists across a range.
There's some babies who get it,
who won't survive past
their first birthday and there are adults who don't
know they have it until much later in life
and there's a whole range of people in between.
>> Growing up with SMA,
my situation was not awful.
For the most part, not a whole lot
of physical pain, but over time,
I started losing different ability so walking obviously,
then I would crawl places eventually that was pretty
much starting to stop by the time I got my spinal fusion.
Once I got my spinal fusion,
there was a large decrease
in ability because it was a long process.
I was in the hospital for about three months and I had lost
a significant amount of muscle which
was not good because I didn't really have any to spare.
>> Prior to her young adult years we
really only had supportive therapies for Samantha.
She needed help with breathing,
she needed help with feeding.
She had a lot of orthopedic need.
She had to have a scoliosis surgery.
All of these were things to patch up the damage
that was done from having profound weakness.
It wasn't until the development of this remarkable therapy
that I was able to offer her a real therapy,
one that would slow the rate of
degeneration from that point forward.
>> I got it down.
>> Spinraza is a trade name for
a generic name called nusinersen and it
causes a change in the way the genes are
expressed and allows for a broken gene to work perfectly.
From that point forward,
when you administer, you change the course of the disease.
Babies that used to die,
now when we give the therapy in the first week or two of life,
they don't even know they have the disease.
>> We've now given over 500 doses and
there's so many people involved that have made this great.
Becky Cornacchia, the SMA Program Coordinator,
Ted Alban, our administrator and so many nurses,
nursing assistants, all the helpers,
that make sure that we have the equipment that we need,
that the rooms are available and I'm
just so proud to be a part of it.
>> One of the other extraordinary things about
Spinraza is how much it costs.
But Hopkins did a magnificent job of figuring
out ways to be able to work our way around those constraints.
Where Redonda Miller, the president of the Johns Hopkins Hospital,
was instrumental and said we have to figure out a way to
solve this despite this challenge.
That process took quite a while but we met
the challenge of how to give this drug in all of its complexities,
the technical challenges that give the end with radiology or
special anesthesia and
the financial issues which were substantial.
Hopkins is one of the few places that was
able to address all of these needs
together in one place and met this exceptional challenge.
>> I can breathe a little bit easier just knowing that I'm not
going to progress the way that I have always been told that I am.
I can actually plan things for the future and
not just think that well,
at some point this is going to be it, it's going to be done.
I think everybody has a struggle,
mine is just visual,
you can see it but
everybody has something that they're struggling with.
They're not letting it get to
them so why should I let mine get to me?