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Detecting Problems

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Texas requires five newborn screens - phenylketonuria (PKU), galactosemia, major anemias, congenital hypothyroidism and congenital adrenal hyperplasia (CAH).

A broader range of tests - called tandem mass spectrometry or expanded newborn screening - detects more than 30 different treatable genetic disorders, including ASA, with one blood sample. Only Massachusetts, Minnesota, North Carolina and Pennsylvania require the tests statewide, but it is available upon request by parents across the country.

For the expanded newborn screening, a blood sample is taken with a heel prick card, the sample is dried and then mailed to a lab. Tests are available on-line from CBR New Screen.

There are literally thousands of different medical tests that physicians can run on newborns, says Dr. Carl Hubbell of Beaumont Pediatric Center. But he says he normally does not do screenings other than those required by the state unless the parent's request them or the infant's symptoms or family history indicates the need for expanded testing.

"Newborn screening tests check for certain errors of metabolism, which are very important for evaluation because if you find them, you can treat them before they develop into complications and serious conditions," he says. Michelle Ping learned that her daughter, Katy, was born with the metabolic condition ASA.

Michelle Ping, 41, of Beaumont, says she wishes she had known about the expanded newborn screening on the day her daughter Katy was born. She knew something was wrong with Katy on the first day she came home from the hospital because she could never keep her bottle down.

At five and a half weeks, Katy went into a coma. "I thought she was dead when I saw her in the crib," Ping says. "We rushed off to the hospital, where they ran like 30 tests on her and did a spinal tap and they couldn't find what was wrong with her."

On the second or third day, Katy came out of the coma, but as soon as she ate a little cereal, she went into a second coma. They rushed in an ambulance to Texas Children's Hospital in Houston. There, a young intern from South American suggested an ammonia level test.

"I owe Katy's life to her," Ping says. "Within eight hours, she had been diagnosed with ASA."

Five years ago, Katy suffered liver damage and received an organ transplant. "She was the first transplant patient with ASA ever and she has been cured ever since," Ping says. Katy, now 10, has mild brain damage as a result of her condition and is in the third grade.

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