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Genomics guides parents with child’s disease

Rachel Ackerly talks about her daughter, Cecily, who was diagnosed with a disability by use of genomic medicine.
(Bradley J. Fikes)

When Cecily Ackerly was born, her parents, Brien and Rachel, said they immediately sensed that something was wrong. When she started having seizures, they knew it.

But finding out exactly what was wrong was much more difficult than describing symptoms, including gastrointestinal and kidney problems. The doctors they consulted weren't sure what it was. And that uncertainty gave rise to parental guilt -- did either of them do something that caused Cecily's condition? The Acklerys turned to to the Internet, where they found plenty of horrifying possibilities, but no definitive answer.

Ultimately, the Ackerlys placed their bet where more people are turning these days to find answers: to the genes.

"The prospect of being able to map her genome for me very exciting, because I'm a data person," said Brien, who works in the IT department at Scripps Health.

Rachel was more anxious, worried that the answer could be very bad.

The genome doesn't explain everything, and the implication of many genetic variants is unclear. But in Cecily's case the Ackerlys had the right instinct. A genomic analysis pointed to a specific mutation associated with Cecily's seizures and likely developmental disabilities as she grew up. And so the Ackerlys refocused their lives to give Cecily the help she needs. Rachel describes Cecily and the dream of helping children like her at Cecily's Closet.

Family help for cecily

Rachel Ackerly.

The Ackerlys told the story of Cecily, who turned 5 on Friday, at the Future of Genomic Medicine conference in La Jolla. As on Thursday, the conference opened with a patient story, emphasizing the medical aspect of genomic medicine. They were interviewed by conference organizer Eric Topol, the prominent Scripps Health cardiologist-geneticist, accompanied by Lynne Bird, a geneticist and doctor who helped them make sense of the results.

Cecily was there, briefly, before her displeasure manifested iteself in a high-decibel fashion. Rachel's father went onstage to take Cecily away in his arms.

As with Thursday's patient, Kim Goodsell, their message was that knowledge is power. Even without a cure, understanding the nature of the disease-causing mutation helps establish control. For Goodsell, that meant changing her diet, which she said has greatly relieved her symptoms.

For the Ackerlys, the understanding has helped them guide Cecily, whose disabilities, while still substantial, are less profound than first feared.

Topol said the ability to identify and help more Cecilys depends on getting larger patient databases to link mutations with specific diseases.

"Phenotying is the limiting step," Topol said.

The bottleneck in genomic medicine used to be finding the mutation, because earlier sequencing techniques were so slow. Today's sequencing machines from Illumina, Life Technologies and other companies have fixed that bottleneck.

The medical community now faces the opposite challenge: making sense of the sequences. And for that, no machine can substitute for informed and consenting patients, or for informed genetic counselors.

Goodsell, the patient from Thursday, took to the microphone during a question and answer session to advocate a doctor-patient partnership.

"It's not that I'm going against what my doctors diagnosed," Goodsell said. "My doctors diagnosed me perfectly, but they didn't find the unifying genetic substrate. I couldn't have discovered it myself without accurate diagnoses. So phenotyping -- it's a partnership. We need our clinical physicians ... It's the coproduction of medical intelligence."

Bird, the genetic counselor, agreed.

"We've left behind the world where there's somebody who can do it all," Bird said. "I think we are all part of a large team."

Topol said Goodsell's interaction represented another step in the Future of Genomic Medicine conferences.

"It's one thing to have a voice of the patient at the conference, but it's a new thing to have a patient-to patient voice," he said.

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