Searching for Similar Diagnosis Through DNA. (NYTimes)

January 2, 2008

Parents of children with distinct genetic mutations are seeking out others to form support networks. For each of them, a genetic mutation became the foundation for a new form of kinship.

The girls had never met, but they looked like sisters. There was no missing the similarities: the flat bridge of their noses, the thin lips, the fold near the corner of their eyes. And to the families of 14-year-old Samantha Napier and 4-year-old Taygen Lane there was something else, too. In the likeness was lurking an explanation for the learning difficulties, the digestion problems, the head-banging that had troubled each of them, for so long.

Several of the adults wiped tears from their eyes. "It's like meeting family," said Jessica Houk, Samantha's older sister, who accompanied her and their mother to a Kentucky amusement park last July to greet Taygen.

But the two families are not related, and would never have met save for an unusual bond: a few months earlier, a newly available DNA test revealed that Samantha and Taygen share an identical nick in the short arm of their 16th chromosomes.

With technology that can now scan each of an individual's 46 chromosomes for minute aberrations, doctors are providing thousands of children lumped together as "autistic" or "developmentally delayed" with distinct genetic diagnoses. The symptoms, they are finding, can be traced to one of dozens of deletions or duplications of DNA that were previously hard or impossible to detect.

Some mutations are so rare that they are known only by their chromosomal address: Samantha and Taygen are two of only six children with the diagnosis "16p11.2."

Few of these mutations were inherited in the traditional sense, and the affected children are typically the only family member with the disorder. So, many parents are searching out strangers struck by the same genetic lightning bolt. They want solace, advice and answers to what the future might hold. From other families of children with the same chromosomal anomaly, they are seeking insight into their own. Sometimes what they find is unsettling. But in the emerging communities of the genetically rare, more often it is sustaining.

For three families, the impulse to find others in the same situation was immediate.

A few months before the Lanes crossed the state to meet Taygen's chromosomal cousin, Jennie Dopp, a mother in Utah, was scouring the Internet for families with "7q11.23," the diagnosis that explained her son's odd behavior and halting speech.

"I want someone to say ‘I know what you mean,'" Ms. Dopp told her husband, "and really mean it."

Noa Ospenson's parents flew from Boston to South Carolina for a meeting of 100 families with children who, like Noa, are also "22q13." Hoping for more information about their daughter's diagnosis, they emerged as lifetime members of what they call "Noa's tribe."

For each of them, a genetic mutation became the foundation for a new form of kinship.

Read the entire article here.