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Parents of autistic twins participate in study

Thomas Shim and Sheena Apun pose with their

Thomas Shim and Sheena Apun pose with their twin sons Dylan and Noah in their Merrick home's backyard. Credit: Newsday / Thomas A. Ferrara

For pediatricians Thomas Shim and Sheena Apun, immersion into the science of autism didn't begin in medical school, but during a Google search four years ago to track down help - and hope - for their twin sons.

Amid millions of autism entries, the Merrick couple found a gene registry that supplies DNA to the worldwide Autism Genome Project, whose scientists are on the hunt for autism-related genes. The registry - the Autism Genetic Resource Exchange - collects familial statistics and DNA for the project, and scientists were especially looking for twins.

"I just signed up on the Internet and someone came from California and did the blood work," said Apun, whose twins Dylan and Noah, 6, have autism.

Apun, whose practice is in Babylon, said each family member donated to the registry, and in an instant transformed their struggle from one fraught with uncertainty to one in which the family could help crack one of the deepest scientific mysteries of all time: how genes play a role in autism.

More than 2,000 families donated DNA to the Los Angeles-based exchange. Genes are preserved and banked at the Cell and DNA Repository at Rutgers University in New Jersey.

"I wanted to contribute, to be part of the solution because no one really understands the basis, the etiology," said Apun of autism's mechanisms.

When they joined the gene registry, the Merrick couple could see that much of the genetic groundwork in autism had already been laid by investigators who need more time - and more families - to aid the hunt for autism-related DNA.

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Geneticists, for example, are well aware that boys are more often affected by autism than girls, estimating 1 in every 71 boys is affected compared with only 1 in 315 girls. With twins, when one is affected the other has a 90 percent chance of also having the condition. Additionally, many children with autism, like the Shim twins, cannot speak. Each of those factors, scientists say, points to underlying genetic mechanisms.

The quest is to find them. The couple learned through the genome project that their sons are identical twins. Before that revelation both parents thought of their boys as fraternal twins.

Yet the research probably won't yield enough answers in time to help them in their daily struggle raising twins who don't speak or communicate effectively. Apun said she noticed her sons' neurobehavioral condition when they were 14 months old - not so much as a physician, but as a mom.

"They weren't saying mama or dada; they weren't playing with toys," Apun said. "And Dylan was so picky with his diet. They just weren't babbling like other babies."

She describes parenting two children with autism as one of the toughest jobs on Earth - coping with tantrums and crying spells from children who want to express themselves but have limited abilities to do so.

Shim, who practices in Queens, is heartened that the family's DNA contribution aids the greater scientific good. "This is one of the largest [investigations] ever done," he said of the Autism Genome Project. "They're trying to figure out heredity, the shared genetic material, versus environmental insults."

Since 2003, the genome project has produced more than 200 scientific papers and uncovered an array of autism-related genes, including six mutations found earlier this year. The hope is to produce gene-based diagnostics to spot autism spectrum disorders definitively - and earlier - in life. Ultimately, the goal is produce therapies based on a child's genetic profile.

"It's every parent's fairy-tale dream to have something immediate," Shim said of treatments for autism. "But at this point it's all about little steps, baby steps."

Until geneticists produce more answers, he and Apun rely on their instincts to ease their children's frustrations. When the boys were younger, Shim said, the family used to go on lengthy car trips. The engine's steady hum lulled them to sleep. Now, the boys are calmed as they play on swings.

Both pediatricians say their struggles as parents have helped them become more empathetic as doctors when their tiny patients are diagnosed with an autism spectrum disorder. "We take care to counsel our patients, both of us," Shim said. "And I know we're much more sensitive to it as parents who are living it."

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