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Spinal Muscular Atrophy or SMA essentially
is due to a mutation in the SMN1 gene that
causes not enough survival motor neuron protein to be formed.
As a result, children's muscles gradually atrophy.
There's damage that's being done that you can't repair.
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Before there was treatment, the majority of children
would unfortunately pass away before the age of two years.
10 to 15 years ago, we didn't have treatments for them,
we didn't have a way to slow the progression of the disease.
Now, there's a lot more hope for our children and families.
Isabelle was born on January 4, 2019.
She still wasn't getting any gains.
It was almost like maybe she was losing gain,
I think that was like the thing, the indication
that there's something else going on.
We had never heard of SMA, never read anything about it,
it was a complete shock to us.
So we saw Dr. Scharf to discuss different treatment options.
Gene therapy definitely sounded the most promising.
With gene therapy, we deliver the gene
that they are missing to the cells of the body.
And from that point forward, the gene replicates
and it acts as though it's part of the person's own genome.
So the protein that the child is missing
he or she is no longer missing.
The University of Virginia Children's Hospital
is one of three children's hospitals
in the state of Virginia that offers treatment for children
with spinal muscular atrophy.
We are able to offer a gene replacement therapy as well
as other gene enhancing therapies
for children with SMA.
When a child comes to our clinic,
they see us as well as orthopedics, cardiology,
physical therapy, occupational therapy, speech language
and feeding therapy.
Being part of a multidisciplinary team
allows us to provide optimal care for children
and their families.
Our knowledge of SMA is greater when we work as a team
than if we work in isolation.
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It's a world of a difference.
I mean, she was never able to stand
and now as you see she's running around the house.
It's been a marathon, and when you take a step back
and you just look at how far we've come
and you're just like, wow, this is almost impossible.
Being able to see children in their first swim lesson
or getting a new dog and being able to take them for a walk,
those are the things life is made of.
And I'm very grateful for the chance
to be able to watch children thrive when previously we
didn't have treatments to offer them.
The fact that we now have treatments that really prolong
life in these children is changing
my concept of these diseases.
If we have these medical advances now,
how encouraging is it about what we're
going to have in store for us in 5 and 10
years for these neuromuscular conditions?
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