Children's Hospital Community Report 2012 - page 7

2 012 • Commu n i t y R e p o r t
5
C h i l d r e n ’s H o s p i t a l o f P i t t s b u r g h o f U PMC
E LEGACY OF ANGELS FOUNDATION
h
as given
Dr. Escolar more than
$2.6 million through its
grant program. The Legacy
of Angels Foundation was
established by Paul and Sue
Rosenau in 2008 to fund curative
research for Krabbe disease and cystic
fibrosis, conditions that have impacted their
family. Lily’s local neurologist attended a
conference that was hosted by the NDRD and
sponsored by the Legacy of Angels Foundation—
helping connect the Smiths to Dr. Escolar.
W
hen
she was born
to Benjamin and Kathleen Smith
of Leonardtown, Md., Lillian Grace was the perfect baby
daughter and baby sister in a family that included older
siblings Elijah and Abby.
But within just a few months, her parents’ concerns
about Lily’s regression in mobility and muscle control
had her undergoing metabolic, neurologic, and genetic
testing. The diagnosis was early infantile Krabbe
­disease, a rare, degenerative genetic disorder that
­typically results in total loss of function within one
year and death within two.
The Smiths, stunned by the news no parent wants to
hear, were determined to try to help other children in
any way they and Lily could. Internet research and the
small world of physicians interested in these diseases
led them t
o
director of the
(
NDRD) at Children’s Hospital of Pittsburgh
of UPMC. In the NDRD, Dr. Escolar and her team help
families find answers, education, and treatment for
their children’s rare genetic disorders.
Once the Smiths got to Pittsburgh, they began another whirlwind of tests ordered by Dr. Escolar an
d
, i
ncluding new MRI technology developed by Dr. Escolar’s team. The result: They determined that
although Lily was symptomatic, some of her neurological function was still preserved, and the physicians
­determined that a reduced intensity umbilical cord blood transplant could prevent further deterioration. ­Usually,
by the time Krabbe symptoms appear in the early infantile onset disease, it is too late to do anything more for a
child than manage his or her symptoms.
Dr. Szabolcs is chief of the
H
e’s also married to Dr. Escolar. “Lily is a testament to the benefit of reduced intensity transplants,” he says.
“Reduced intensity” means that lower doses of radiation and other agents are used during conditioning, before
the transplant. With reduced intensity transplants, families are away from home for a shorter time. Other benefits
are faster recovery and an easier way to give medication.
The same week as her birthday, Lily
was finally allowed to return home.
Lily has surpassed Dr. Escolar’s
­expectations. “I told the family she
would not be able to move below
her neck, but she is moving her
arms,” Dr. Escolar says. Lily’s vision,
hearing, and cognition have been
preserved. Most importantly, says
Dr. Szabolcs, “Lily is not regressing.”
And she loves to laugh at her sister.
Learn about the use of cord blood to treat
neurodegenerative diseases like Krabbe.
Kathleen and Ben Smith share their journey from despair to hope for daughter Lily.
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