Baby Steps

Though Maryland gets high marks, critics say many states are moving too slowly in addressing genetic testing of newborns

June 28, 2007|By Dennis O'Brien | Dennis O'Brien,sun reporter

A drop of blood taken from Korinna Sieracki's heel a day after she was born last June at Franklin Square Hospital Center revealed what her mother feared.

"When I heard cystic fibrosis, I just lost it because all I thought was, `My God, my daughter's going to die when she's just a child,'" said Kristie Sieracki, a mother of three from Edgewood.

But now the Sierackis consider themselves lucky for two reasons. First, the prognosis for cystic fibrosis patients has improved in recent years, with life expectancy now reaching into the 50s for infants diagnosed at birth.

FOR THE RECORD - An article about genetic screening of newborns in Thursday's editions of The Sun incorrectly identified the location of research into a screening test for adrenoleukodystrophy, or ALD. The work is being done at the Kennedy Krieger Institute in Baltimore.
The Sun regrets the error.

Second, Korinna was born in Maryland, one of about 40 states that routinely screens newborns for cystic fibrosis. Tests showed the couple's two older children don't have the disorder.

Each state decides what screenings to conduct on newborns, and the result is a patchwork of inconsistent requirements.

Maryland requires a more thorough screening than many states - ranking at the top with four other jurisdictions in a national newborn screening "report card" issued by the March of Dimes last summer.

Critics say some other states are moving too slowly, and as a result, too many babies are leaving hospitals with undiagnosed disorders that require early treatment.

"There are certainly tests that aren't being done that should be done in a lot of places," said Jill Levy-Fisch, a mother of three from Scarsdale, N.Y., and president of a group that promotes supplemental screening programs.

States have required genetic screening of newborns since the mid-1960s, when researchers developed a blood test to detect phenylketonuria, or PKU, an enzyme abnormality that can cause mental retardation, potentially lethal blood clots and liver failure.

Dozens of additional screening tests have been developed. In many cases, detection and treatment before symptoms appear can prevent or reduce the effects of lifelong and life-threatening complications, experts say.

However, the March of Dimes found that a third of the 4 million babies born in the U.S. each year are screened inadequately. The group's annual report card identifies states that don't screen for the 29 disorders recommended in 2005 by the American College of Medical Genetics.

Eight states - Arkansas, Kansas, Montana, New Mexico, Oklahoma, Pennsylvania, Texas and West Virginia - require fewer than 10 tests, according to the March of Dimes last year. This year's report card is due out July 11.

As many as 20,000 children are diagnosed with one of the 29 disorders each year, according to the group, whose goal is to have every U.S.-born infant screened for all 29 conditions by the end of 2008.

The problem is that many of the disorders are extremely rare and little understood. So states are playing catch-up because methods of detecting and treating the conditions are still evolving, experts say.

"The technology is changing every day," said Dr. R. Rodney Howell, president of the American College of Medical Genetics Foundation and a pediatrics professor at the University of Miami medical school.

Howell conceded that the patchwork of state screening requirements needs to be addressed. When his granddaughter was born in a Virginia hospital two years ago, he sent a blood sample to a private lab for supplemental screening because Virginia's wasn't thorough enough.

"It is something parents need to be aware of. You really need to know about the importance of the screening to have it done," he said.

The American Medical Association supports uniform screening, but declined to pass a resolution calling for nationwide tests "for all known genetic and congenital diseases" at its annual conference in Chicago this past weekend. The language was considered too broad, an AMA spokeswoman said.

Search for diagnosis

Levy-Fisch said she would have welcomed the AMA's resolution. When her youngest son, Matthew, was a year old, he stopped gaining weight and stayed at 22 pounds for the next 18 months, until she brought him to Children's Hospital in Philadelphia, where they put him on a feeding tube.

Her search for a diagnosis also took her to the Mayo Clinic in Minnesota and Duke University Medical Center in North Carolina.

"It was unbelievable," she said.

Matthew was eventually diagnosed with SCAD, a metabolic disorder that makes it hard to digest short chain fatty acids, which can cause a buildup of toxins in the blood.

Now age 6, he takes Carnitor and riboflavin and his height and weight are in the normal range, his mother says. But he has learning disabilities and if he gets a common illness such as a stomach virus, it means a hospital stay to monitor his glucose level, she said.

New York has started to screen newborns for SCAD - as has Maryland. But the fact that a dozen states still don't screen for it frustrates Levy-Fisch. Other parents and children shouldn't have to go through her son's ordeal, she said.

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