(dramatic orchestral music)
(audience applause and cheers)
- What would you do if
you were told your baby
has less than two years to live?
- [Audience] Aww.
- Parents Samantha and Jeremy fought back
when they received that diagnosis.
They took a new course of action.
This is their story.
(upbeat music)
- When I was pregnant,
I had a genetic carrier
screening done and it
showed that I was a carrier
for cystic fibrosis, familial
recessive cholestasis
and spinal muscular atrophy.
But when our daughter, Stella,
was born on May 18th 2019,
she had a clear bill of health.
- We took Stella to the
doctor when she was three
weeks old and the
pediatrician noticed that she
was a bit floppy and her muscle tone
had decreased since birth.
When we would pick her up,
her arms would just kinda fall
to the side, her legs
would fall to the side
and she didn't really have
any ability to catch herself.
Stella was admitted to
the hospital for testing
and a week later she was
diagnosed with spinal
muscular atrophy type 1, which is the most
severe form of spinal muscular atrophy.
- SMA type 1 babies are
generally on a 24 hour
breathing support, 24 hour feeding tube
and are never able to
lift their head or walk,
and it's typically terminal by age two.
For me, the possibility of
having a child with a terminal
diagnosis was horrifying.
I don't think anyone's
ever prepared for that.
- Receiving that diagnosis
definitely was very
difficult, but there was a
light at the end of the tunnel
because Stella qualified
for a new experimental
gene therapy IV treatment
that was approved by the FDA
just six days after she
was born and she received
the treatment shortly thereafter.
- Stella is now eight months old
and she is doing amazing things.
She is holding her head
up on her own and sitting
with support, she can
bring toys to her mouth
and shake toys and bang
them together and splash
in the tub and pull my hair.
They may seem like very
little things to someone else,
but for us, they're really
big milestones for Stella.
She is off the feeding tube
for long periods of time
and she only uses breathing support
when she sleeps at night.
We are so lucky that Stella
was diagnosed when she was
because we've learned that it is critical
a child is treated as soon as possible.
We understand that gene
therapy is not a cure
and we don't know what
the future will bring,
but we are extremely hopeful.
(audience applause)
- We are so happy here
that Stella is doing better
and we wish her and her
family all the best.
Our good friend and colleague,
Freda Lewis-Hall of Pfizer
is back and Dr. Freda,
although Stella's parents
are seeing improvement,
gene therapy is not
appropriate for every
person or every condition.
- That's correct.
You know, gene therapy is really complex.
We still have to determine
who and what diseases
this is right for and
we need to understand
the short-term and long-term effects
of having done it.
Although it may be a
promising new treatment option
for a number of diseases with identified
genetic mutations, we
still have to understand
whether or not they're safe and effective
to treat those conditions.
- Gene therapy targets
the underlying cause
of disease, while many
other types of treatments
are typically used to relieve symptoms.
It's a technique that
allows doctors to treat
a disorder by delivering
a gene into a patient's
cells, instead of using
medicines or surgery.
- There are approximately
25,000 genes in our bodies
and we typically have two copies of each,
one from each parent.
And these genes influence
everything from the color
of our eyes to how our
immune system works.
- And a small change to
our genes, whether due
to a genetic mutation, maybe aging or some
form of exposure, it can
alter the way we breathe,
walk or even digest food.
Dr. Freda, let's talk
about how we can currently
use gene therapy.
- So there's several options.
You can replace a mutated
gene that's causing
a disease with a healthy
copy of that gene.
Or you can inactivate or knock out a gene
that's mutated that isn't
functioning properly
or you can introduce a
new gene into the body
that can help fight a disease.
- Like with baby Stella,
gene therapy creates
an opportunity to assist
with rare inherited
disorders, and as for how it works,
Stella's parents mentioned gene therapy
is administered to the patient
through an injection or IV.
- And of course, if you wanna know more,
you can go to
GetHealthyStayHealthy.com and there's
information there as well as resources.
- Thank you, doctor.
- And while you're there,
you can sign up for
our monthly newsletter.
- Always appreciate you visiting,
Dr. Freda Lewis-Hall.
- Thank you,
always a pleasure.
- Stay tuned, more to come.
