Every day, at least one U.S. baby is born with a genetic disorder that causes everything from an upturned nose to deformed limbs and mental retardation.
It's called Cornelia de Lange Syndrome, and as many as 30,000 Americans have it. But few people have heard of CdLS, and thousands of kids with milder cases aren't being diagnosed.
"CdLS is an unknown entity," said Scott Welborn of Naperville, a board member of the Cornelia de Lange Syndrome Foundation, which met last week at the Marriott O'Hare. "The medical community does not have full knowledge."
To boost awareness, the foundation is launching an education campaign with the slogan, "Find every child, help every family."
'These are precious moments'
In some children, CdLS is easy to find. Welborn's daughter Kimberly, for example, was born with limb abnormalities. Her left arm ends at her elbow, and her right hand has only a forefinger and thumb.
Kimberly, now 19, is no bigger than a 6-year-old. She has difficulty walking, isn't toilet trained and cannot talk. She communicates with about 150 picture cards.
Kimberly displays autistic-like behavior, only rarely making eye contact.
"These are precious moments," Welborn said. "You're lucky if you get them a few times a week."
She spends hours playing with her toys by herself. When she's in the mood, Kimberly plays a simple tune on the piano, hitting the keys with her elbows and humming along. She smiles a lot.
"She's very happy," Welborn said. "One blessing in our life is that these children are very happy."
Kimberly graduated last year from Naperville Central High School, where she was in a special classroom. A former student helper, Nick Passarelli, escorted her to the prom.
"He didn't leave her side the whole evening," Welborn said.
Kimberly will attend a special school in Tinley Park until she turns 21. Her parents then plan to place her in a day program and eventually a residential facility.
In other kids, CdLS symptoms are more subtle. Logan Fowler, 16, is thriving in his 10th-grade special ed classes in Rumson, N.J.
If he gets the right help, Logan can perhaps go to college, said his father, David Fowler, a foundation board member.
Cure 'not inconceivable'
CdLS research is accelerating. The biggest breakthrough occurred last year when scientists discovered the gene that causes CdLS. The mutation usually occurs spontaneously and isn't inherited.
The discovery could lead to a prenatal test to predict whether a baby will be born with CdLS.
The finding also could lead to drugs to treat CdLS, perhaps as early as the mother's pregnancy, said developmental biologist Anne Calof of the University of California at Irvine. Calof and her husband, who lost an infant daughter to CdLS, were part of the research team that discovered the gene.
A cure is further off.
Researchers would have to either prevent the mutation or disable the bad gene.
Nevertheless, a cure "is not inconceivable anymore," Calof said.
CORNELIA DE LANGE SYNDROME
*Named after: A Dutch physician who described the syndrome in 1933.
*Incidence: About 1 in 10,000 live births.
*Characteristics: Mental retardation, autistic-like behavior, limb abnormalities, small stature and head size, short upturned nose, thin downturned lips, heart defects, cleft palate, bowel abnormalities.
SOURCE: Cornelia de Lange Syndrome Foundation
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