Hunting newborn tests for super-rare gene diseases

WASHINGTON – At his first birthday, John Klor couldn't sit up on his own. A few months later, he was cruising like any healthy toddler — thanks to a special diet that's treating the North Carolina boy's mysterious disease.
What doctors initially called cerebral palsy instead was a rare metabolic disorder assaulting his brain and muscles, yet one that's treatable if caught in time.
Urged by John's family, Duke University researchers are working on a way to test newborns for this disease, called GAMT deficiency. It's part of a growing movement to add some of the rarest of rare illnesses — with such names as bubble-boy disease, Pompe disease, Krabbe disease — to the battery of screenings given to U.S. babies hours after birth.
"There's other children out there that can be helped and be saved," says Melissa Klor, John's mother.
But just how many illnesses can that tiny spot of blood pricked from a baby's heel really turn up? And not all are treatable, so when is population-wide testing appropriate?
"Families go through these odysseys of diagnosis" to learn what's wrong with a child, says Dr. Alan Fleischman of the March of Dimes, who's part of a government advisory committee studying what to add to the national screening list. Often, "they argue that they would have been better off knowing even if there were no treatments."
Since 2004, specialists have urged that every U.S. newborn be tested for 29 rare but devastating genetic diseases, using that single heel-prick of blood, to catch the fraction who need fast treatment to avoid retardation, severe illness, even death. States gradually adopted those recommendations, and federal health officials say the testing catches about 5,000 babies a year with disorders ranging from sickle cell anemia to maple syrup urine disease and others with such tongue-twisting names that they go by acronyms like LCHAD.