DNA Testing Was Meant to Help Esmé. It Created Turmoil.

Amy Dockser Marcus:

Hillary Savoie wanted clear answers. Instead, the genetic testing results for her 4-year-old daughter, Esmé, sent her reeling.

“I’m pale. The bags under my eyes are purple,” she wrote in her blog started when Esmé was a baby. “My lips are drawn tight in a thin line.”

Ever since the little girl came into the world in 2011, limp, blue, and struggling to breathe, doctors had been searching for the cause of her problems. They were certain the answer was hidden in Esmé’s DNA, the genetic code comprising more than 3 billion letters that help determine our basic makeup, from health risks to what we look like.

A genetic test performed when she was almost 2 years old revealed a variant on one of Esmé’s genes—“one tiny letter switched out for a second letter,” Ms. Savoie described it—which doctors thought might explain her delayed walking and talking, and epilepsy.

The findings gave the family an answer, and a community. Esmé had a variant in the PCDH19 gene. Ms. Savoie threw herself into PCDH19 research and friendships with families of other PCDH19 children.