11 / 16
11
Since 2003, Percy has led an
NIH-funded natural history study
of Rett patients. “We’ve enrolled
some 1,200 patients here and
at other centers across the
country that have some relation
to Rett syndrome. Some have
Rett; others just have mutations
and don’t have Rett syndrome.
We know from other disorders
that it is critical to determine the
natural history so you can be
certain the treatment you use is
actually making a difference,”
Percy said.
For Percy, one of the most
rewarding aspects of working
with Rett syndrome is being
able to provide support for
patients’ families. “It’s giving
families a sense they are not
alone. We can put them in
touch with other parents who
have similar experiences. I
truly believe that involving
the families has been a major
boon to understanding Rett
syndrome. We are able to give
families a focal point and an
understanding that there are
lots of folks working on this,
and with all the research that
is going on, we are moving
toward effective treatments, if
not a cure,” he said.
More information is available at
www.sukifoundation.org.
Alan Percy, M.D., has worked with
6-year-old Sarah Katherine Bateh,
known as “Suki,” since diagnosing
her with Rett Syndrome at age 2. She
and her family have created the Suki
Foundation to raise funding, increase
awareness and to provide early
intervention services for the one in
10,000 little girls born with the genetic
defect that causes this debilitating
neurological disease.