New Tech Identifies Rare DNA Disorders

Services link families whose kids were once labeled autistic
By Kevin Spak,  Newser Staff
Posted Dec 28, 2007 11:50 AM CST
Downs Syndrome is one of the most common and easily identified genetic disorders.   (
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(Newser) – New procedures that scan all 46 human chromosomes are helping doctors classify disorders once lumped together as "developmentally delayed" or "autistic"—and helping parents connect to families whose children also have uncommon conditions. The New York Times looks at the lives of parents isolated by their experience with disorders so rare some have only a genetic address instead of a name.

One Utah family didn't know why their son screamed at the slightest trouble, until he was diagnosed as one of 11 patients worldwide with "7q11.23." They grew frustrated when friends and family couldn't relate, so they sought other parents whose children had the condition. Now the mom is emailing those families as fast as she can type. “I want someone to say, ‘I know what you mean,'” says Jennie Dopp, “and really mean it.”