SPINAL MUSCULAR ATROPHY OR SMA TYPE ONE
IS THE LEADING GENETIC CAUSE OF DEATH FOR
INFANTS TODAY. A DEVASTATING FACT--  THIS FAMILY
KNOWS ALL TOO WELL.
Our  first daughter was diagnosed
with SMA Type 1 at 6 months.
She passed away at 15 months old.
This is a disease that is devastating
for infants. A large percentage of patients
die before one ye  ar of age,
but 95+% are gone
unfortunately by
age 2.
SMA rapidly robs babies of their
ability to move, talk, swallow
and eventually breathe.
When Milan and his wife Elena found out they
were pregnant with their second child Evelyn, they prayed
for a healthy baby. Unfortunately,
that was not the case. When she was born
and the results came back,
And found out she was positive for
SMA type 1. We just broke down.
We found out about the clinical trial
here at Nationwide Children's Hospital. This is really the
first time we've been able to
apply gene therapy to any neuro-muscular
disease. Today was a very special day for
Evelyn. She was given genetic therapy
for her missing SMN gene.
Babies with SMA are missing a
gene vital for development
through a one-time injection gene therapy
replaces this missing gene.
For Evelyn, this gene therapy worked.
We start seeing changes as little as
two months after treatment. We started seeing
her push and she started to
get more active, holding her head up.
a little after
3 -4 months she rolled over on her own.
 
Now, 3 year old Evelyn challenges Dr. Mendell
to a dance off at her annual follow up
appointment
She comes back after three years and she
runs up to me and hugs me and says, Dr. Mendell
I love you. I forget that she has SMA.
This is a healthy girl and she
does everything a normal 3 year child would do.
Something like that has never been achieved before.
 
With our first daughter, it was just devastating to lose a child
you lose all dreams you had for their future.
and now we can actually save for college.
