State to test infants for 5 more diseases

By Julia Sommerfeld
Seattle Times staff reporter

STEVE RINGMAN / THE SEATTLE TIMES Laurra Corsello of Seattle holds her 8-month-old daughter, Helena, who has galactosemia, a metabolic condition that occurs in about 1 in 50,000 babies. Hers is one of nine newborn diseases now automatically screened for in Washington.

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Other links Department of Health Newborn Screening Program March of Dimes, Washington chapter State newborn screenings

Each of the five new conditions is rare, has a tongue-twisting name — homocystinuria, for instance — and has potentially deadly or disabling consequences if left untreated.

But when diagnosed early, treatment is relatively simple — usually a special diet or supplement — and can avert brain damage and death, said Michael Glass, director of the state's Newborn Screening Program.

"This is prevention at its best," State Health Officer Dr. Maxine Hayes told a news conference. Already, she added, 29 children have benefited from the additional testing.

Tests can save lives

A few drops of blood from Helena Corsello's heel told her parents all they needed to know to save her life.

The 8-month-old has galactosemia, a metabolic condition that occurs in about 1 in 50,000 babies. Hers is one of the diseases now screened for in Washington. Because she's missing a key enzyme, Helena could face severe mental retardation, blindness, even death, if she were fed galactose, a sugar found in milk. Her case was caught as the screening lab was doing trial runs with its new equipment.

But Helena's mother, Laurra Corsello, who already has a 4-year-old son with the condition, wasn't taking any chances. The Seattle mom had ordered the test on her own and was feeding Helena soy milk just in case.

Her son, Marek, wasn't diagnosed until he was more than a week old and already hospitalized for severe weight loss and jaundice. Today, he's in preschool and doing fine on a restricted diet, but his mom still shudders when she thinks about the trauma of his first weeks of life.

"I've seen it from both sides now," Corsello said. "With a disease like this, knowing early makes all the difference."

No change for patients

On the patient's end, the screening process remains the same. For decades, all Washington babies have received a prick on the heel to collect a couple of drops of blood.

The drops are dried on what looks like a large postcard, put in an envelope stamped with a stork and a biohazard symbol, and mailed to the state's Public Health Laboratories in Shoreline.

The samples are sent through a course of high-tech machines, including a new one called a tandem mass spectrometer, which tests for four different diseases by measuring the weights of molecules in the blood. The lab tests all 76,000 babies born in Washington hospitals each year.

If a child tests positive for any of the conditions, the hunt begins, usually within about a week. "These kids are time bombs, so it's a race to find their doctor and their parents," explained Sheila Neier, whose job it is to follow up on the test results.

Until now, Washington newborns were tested for four diseases: hypothyroidism, sickle-cell anemia, congenital adrenal hyperplasia and phenylketonuria, or PKU. Added to the list this year, after a push by the March of Dimes and the recommendation of a state advisory committee, are tests for biotinidase deficiency, galactosemia, homocystinuria, maple syrup urine disease and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. Washington joins 21 other states that have gotten on board with the March of Dimes' suggested battery of nine tests.

"These are very different diseases, but the common element is that there are treatments for all of them that can save a child's life," Glass said.

The new tests raised the screening fee from $40.40 per child to $64.40, which is covered by insurance and Medicaid.

Julia Sommerfeld: 206-464-2708 or jsommerfeld@seattletimes.com

Copyright © 2004 The Seattle Times Company

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