Family: Support: Share Your Story: Scott
About one in every 50,000 children has Crouzon syndrome, and Scott
Summe knows what that means.
A sporadic mutation in a gene required for development prevented
Scott's head and face from forming properly. Instead, the sutures
in his head closed three months before birth, blocking the growth
of his brain and leaving Scott with a pear-shaped head, protruding
eyes, narrow airways, and jaws that could not meet in front to bite.
Immediately after birth, Scott's parents, Jim and Janet, brought
him to the Children's Center, where doctors designed a small plastic
tube to hold his airway open. Typically, Crouzon patients require
surgery, and with his early and dramatic malformations, Scott has
undergone 16. When he was four weeks old, a craniofacial team in
Philadelphia removed the bones on the top of his skull to give his
brain room to grow. Other surgeries moved the bones in his forehead
forward, opened his nasal area, and straightened the muscles in
his eyes. Reconstruction of his upper jaw is in the future.
It is hard not to think of Scott as uniquely gifted rather than
uniquely challenged. His face looks abnormal, but his outstanding
characteristic is indomitable cheerfulness. He whistles as he breezes
among black belt Tae Kwon Do lessons, hockey practice, Web surfing,
and time with his close family.
"Scott gets teased, but he ignores it," his mother explains. "if
someone stares at him, Scott turns to them and says, 'I have Crouzon's
disease. Do you wanna play soccer?'" His father adds, "Walking into
the grocery store with Scott is like walking with a politician.
People have seen him grow up into an outgoing, happy-go-lucky child,
and everyone feels they're on his side."
Scott has even helped make a major contribution to scientists'
understanding of Crouzon syndrome. With his family, he participated
in a study conducted by Ethylin Wang jabs that led to the identification
of the Crouzon gene. Moreover, the unique appearance of craniofacial
disorders in Scott and his cousin led jabs to suggest a link between
Crouzon and a related disorder, Pfeiffer syndrome, that will spur
further research.
Little concerned with himself, Scott extends hope to others. In
presentations to elementary school students in his area of Howard
County, Scott's description of how he copes with Crouzon syndrome
inevitably draws out students who share their own struggles with
self-esteem.
"One time after Scott's presentation," his mother recounts, "a
boy with hearing aids stood up to describe how he was teased. 'I
know just how you feel,' Scott told him, and then gave him advice
on how to handle it. Scott has managed to turn something that is
not an advantage into something that makes him important."
Johns Hopkins Children's Center Office of External Affairs
© Spring 1997
Last Updated:
6/14/02
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