STAR-BULLETIN / 2002
A rare disorder was recently detected through a pilot newborn screening program at Kapiolani Medical Center for Women & Children. Dr. Vankataraman Balamaman, above, drew blood from a baby's foot in February.
Isle newborn A rare disorder that occurs in one in every 100,000 babies was recently detected in a baby boy in a pilot newborn screening program at Kapiolani Medical Center for Women & Children.
screening finds
rare baby defect
Undetected, the disorder
could cause serious illness,
leading to a coma and deathBy Helen Altonn
haltonn@starbulletin.comAbout 3,000 babies had been tested in the program before the organic acid disorder, isovaleric acidemia, was picked up in a baby born in late September, said Christine Matsumoto, coordinator of Hawaii's Newborn Metabolic Screening Program. It was found before symptoms even appeared, she said.
"It's treatable (with diet modification). That's what's so neat."
Had the disorder escaped detection, the baby would have become very sick, with severe vomiting, listlessness, lethargy and possibly going into a coma and death, she said.
The pilot program, using new technology called tandem mass spectrometry to screen newborns, began in March. Hawaii is collaborating with California, which received a $3.9 million federal grant for three years to conduct the research.
Newborns in the research project have been screened for 30 or more "errors of metabolism," inherited disorders that can lead to severe dysfunction or death without detection and treatment.
Hawaii's participation was to end Dec. 31, but Kapiolani has been asked to extend the testing to Aug. 31, when it could roll over into an expanded mandated newborn screening program, Matsumoto said.
All babies born in Hawaii now are tested for seven disorders in a state-mandated program. Public administrative hearings will be held in the spring to expand the mandatory testing to 25 disorders and to all 14 birthing hospitals across the state, effective Sept. 1, Matsumoto said.
Specialists will go to the Oregon State Public Health Laboratory to begin planning for the mass screening, she said.
"Everything will be the same, but we will test for more disorders using the same amount of blood," Matsumoto said.
The samples now are sent on to California from Oregon for expanded tests in the pilot program if parents consent.
Matsumoto said 11 people were hired to talk to parents to get informed consent for the research program, with 78.6 percent participating.
"Many of them are overwhelmed, tired, fatigued after birth, and they don't want to be bothered with it."
However, 99.8 percent of all babies born in Hawaii are screened in the mandated program, which uses "informed dissent," Matsumoto said. Parents sign a form only if they refuse the tests.
She said the screening program is looking at informed dissent for the expanded mandated program instead of asking people to consent to it.
Matsumoto said the department will work with educators in childbirth classes, agencies such as Healthy Mothers Healthy Babies and others to increase education of parents about newborn screening.
When mandated screening stretches to 25 disorders, the birthing fee will go up to $47 from $27, she said.
But 18 more disorders will be covered for the increased cost, including the one found in the newborn in September, she said. "Who knows, with expanded screening, how many more babies' lives we'll be able to save?"
If the rare disorder had not been found in the recent newborn case, Matsumoto said: "Even if the baby had lived, there would be severe developmental delays. ... Lifetime costs would have been tremendous."
Newborn screening normally is covered by insurance, and companies will be encouraged to adjust rates to cover the increased fee, she said.
Newborn Metabolic Screening Program
