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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
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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.”

Downs Syndrome is one of the most common and easily identified genetic disorders.
Downs Syndrome is one of the most common and easily identified genetic disorders.   (Shutterstock.com)
Families of children with the same rare chromosomal anomalies have begun to find each other and connect via the internet.
Families of children with the same rare chromosomal anomalies have begun to find each other and connect via the internet.   (Shutterstock.com)
Families of children with the same rare genetic disorders find each other on the internet and form larger support systems.
Families of children with the same rare genetic disorders find each other on the internet and form larger support systems.   (Shutterstock.com)
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autism • genetic testing • DNA • genetic code • genetic disorders • chromosomal disorders

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