ALEXANDRIA, Va. — Imagine having a child who was born with cataracts and brain damage, and develops dementia and other ailments more often found in the elderly — and not knowing what would cause such ailments.
Parents who share such experiences because their children have the rare genetic disease Cockayne syndrome recently gathered with their families near Washington 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 Cockayne syndrome are mostly happy and jovial, despite their conditions. They 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, while less severe onsets can affect people into their 40s.
Scientists are still searching for answers about the disease, estimated to affect one in 500,000 children. It’s difficult to diagnose.
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 lifespan. She died four months later.”
Now Clark leads the Share and Care Cockayne Syndrome Network and organizes a conference each year for families to meet. She said the gatherings help because the disease can be isolating.
Dr. Edward Neilan, a leading researcher and pediatrician who has treated children with Cockayne at Boston Children’s Hospital, and a handful of other researchers often attend the conferences to help them search for answers in recognizing and treating the disease.
“Once you’ve seen a condition, it takes on a personal, memorable aspect to you and becomes easier to recognize” he said. “But if you’ve never seen it before and you’re only relying on textbooks, it’s very hard to recognize something that you’ve never seen before.”
Genetic testing can detect mutations that cause the disease, but to diagnose the condition in a child, a doctor would have to suspect Cockayne in order to test the patient’s cells, experts said. Many patients develop a distinct facial appearance, and some families self-diagnose their children and seek help.
Dr. Philip J. Brooks, an adjunct investigator and rare disease researcher at the National Institutes of Health, developed a hypothesis that the brain disease is caused by cells that aren’t making proteins they need to function normally. Then the cells are prone to dying.
Brooks said meeting affected children over the past eight years sparked his interest in the rare condition. He said it hasn’t received much research focus or public attention.
“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 and made me want to study this and to do something to help these people.”
Over the years, he said he has observed the progression of the disease and listened to the parents’ observations.
At this year’s conference in Alexandria, Va., Dr. Alan Weiner, a biochemistry professor at the University of Washington, conducted a blood draw for research funded by the National Institutes of Health to try to determine what causes Cockayne syndrome. He is testing whether the children’s’ cells have the same protein symptoms as laboratory cells.
“If they do, it might suggest new remedies that could actually be tried now,” he said.
A small biopharmaceutical company recently tried to develop a treatment but ran out of money. The treatment was never fully developed, Neilan said.
Parents are anxious to know more about the disease. Haylee Carroll of Knoxville, Tenn., had three children with the syndrome and two healthy children. Her first two children were never fully diagnosed with the condition before they died. Now her 3-month-old baby, Eris, her fifth child, also shows signs of the disease.
“We still haven’t ever had a piece of paper that says they have this. That would be nice to have,” she said. “We know that they have it, but it would be nice just to have (confirmation).”
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