Children’s Mercy receives grant for early diagnosis in critically ill newborns

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KANSAS CITY, Mo. -- A Kansas City family wondered for years why their little girl couldn't walk or talk. Now they know. And with the help of a new federal grant to Children's Mercy Hospital, other families with ill babies should get answers much, much sooner.

Millie McWilliams' dad told her story Wednesday to a crowd outside Children's Mercy. He explained how at age 4, Millie was diagnosed with a genetic condition called Rett Syndrome. But she didn't fit that profile.

"So in the back of our minds we were thinking, okay, something else is wrong," said Earl McWilliams.

In the past year, the answer came from Children's Mercy's Center for Pediatric Genomic Medicine. Millie, now eight, is one of fewer than 10 people in the world to be diagnosed with the mutation in the gene ASXL3.

Instead of waiting years for diagnosis of a genetic condition, parents of critically ill newborns at Children's Mercy can now get an answer from the center in 50 hours. The fastest whole genome analysis in the world is done there.

"Just eliminating that whole diagnostic odyssey that people go through -- so many tests that are unnecessary and visits to specialists which take time out of people's work life and family life," said Dr. Carol Saunders.

On Wednesday, the National Institutes of Health announced it's giving Children's Mercy more than five million dollars to continue its research of the rapid sequencing called STAT-seq. The research will see, for example, how the rapid sequencing changes the care of ill newborns.

"If there is a therapy that can be initiated, it can be started much sooner which could make a big difference," said Dr. Saunders.

Millie's dad says being more informed alllows parents to make better decisions for their child. Now that Millie's condition is known, the family is hopeful it will lead to development of treatments.

The rapid analysis is currently available only for patients at Children's Mercy. It costs $14,000 for one baby. Grants from foundations have helped cover that. Now there are also federal dollars for the research.

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