Kids With Cockayne Syndrome (A Rare, Premature Aging Disorder) Get Chance to Meet

August 22, 2013

Imagine having a child who develops dementia and other ailments more often found in the elderly — and imagine not knowing what would cause such ailments.Parents who share such experiences — because their children have Cockayne syndrome, a rare genetic disease — recently gathered with their families in Alexandria so their kids could meet others like themselves. Scientists and researchers joined them to observe symptoms and search for ways to provide treatment.

Experts say children with the syndrome often experience poor growth, premature aging and sensitivity to sunlight. Some may develop bits of gray hair, wrinkled skin or high blood pressure. Those with severe cases often live only a few years.
Scientists are searching for answers about the disease, estimated to affect one in 500,000 children.Jackie Clark said she knew something wasn’t right with her baby, Gigi, shortly after she was born, even though doctors said everything was fine. Soon they found Gigi had cataracts. They later found a problem with her nerve endings that made her itchy all the time.

“Slowly everything started to unravel as we discovered that she couldn’t hear and she wasn’t developing right,” Clark said. “It took us five years before we were able to figure out that she had Cockayne syndrome. At that point, she was already close to the end of her life span. She died four months later.”

Clark leads the Share and Care Cockayne Syndrome Network and organizes a conference each year for affected families. She said the gatherings help because the disease can be isolating.

Edward Neilan, who has treated children with the syndrome at Boston Children’s Hospital, attends the conferences to help him spot the disease. “Once you’ve seen a condition, it takes on a personal, memorable aspect to you and becomes easier to recognize,” he said.

Genetic testing can detect mutations that cause the disease, but to diagnose the condition in a child, a doctor must suspect Cock­ayne and have the patient’s cells tested.

Philip J. Brooks, a rare-disease researcher at the National Institutes of Health, developed a theory that the ailment is caused by cells that don’t make proteins they need to function normally.

Brooks said that meeting affected children sparked his interest. “I had learned about it in textbooks and seen pictures, but that’s not the same thing as seeing it,” he said. “That had a big impact on me.”

Haylee Carroll of Knoxville, Tenn., had three children with the syndrome and two healthy children. Her first two children were never fully identified as having the condition before they died. Now her 3-month-old baby also shows signs of the disease.


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