By Lois M. Collins
Deseret Morning News
Marcus Burnett seemed healthy at birth but started slipping when he was about 10 days old. He lost weight and was listless. He didn't want to eat, seemed too tired even to cry. He slept all the time and occasionally threw up.
A series of tests at Primary Children's Medical Center provided an answer to his worried mom, Cindy. He had congenital adrenal hyperplasia, a defect in his adrenal-gland hormone synthesis process. He couldn't retain salt, his potassium was unbelievably high and the result could be a heart that simply stops. He was also unable to convert his cholesterol the way it was supposed to.
Treatment is simple; ignoring it would be devastating. The boy, now a healthy 5 years old, takes two synthetic hormones three times a day. He eats a normal diet and lives a normal little-boy life, his mother said.
In some states, a simple $3 test would have found the disorder during his in-hospital newborn screening. But that's not one of the required newborn tests in Utah.The March of Dimes recommends nine metabolic tests as part of the newborn screening. Utah requires four of them, as well as a hearing exam. But though the national organization's recent report on newborn screening was critical of Utah, Patricia McKenna-Clark, government affairs for the local chapter, says a great deal of progress is being made. The Utah Department of Health may soon add other tests, based on the recommendation of a health department genetics advisory subcommittee. And there's no question that there's a spirit of collaboration moving efforts forward, she said. "We're making progress and that's a success."
An ongoing pilot project at University Hospital offers expanded metabolic screening of newborns. It's a joint effort of the U., the Health Department, ARUP laboratories, March of Dimes and others. The study's not trying to vet the efficacy of the tests, well proven, but rather how such expanded testing might be introduced on a large scale in a cost-effective and efficient way, said Dr. Nicola Longo, a professor of pediatrics at the U. and director of metabolic services there.
The pilot uses tandem mass spectrometry to run an MCAD (medium-chain acyl-coa dehydrogenase) test to look at about 25 different metabolic conditions at once. The department's Genetic Advisory Committee newborn screening subcommittee has recommended the MCAD test be added to the newborn screening, along with tests for biotinidase deficiency and Marcus' condition, congenital adrenal hyperplasia. The state already tests for phenylketonuria, galactosemia, congenital hypothyroidism (low thyroid) and hemoglobin diseases like sickle cell. The March of Dimes also recommends screening for Maple Syrup Urine Disease and homocystinuria.
Jason and Jessica Nelson of Park City had considered having extra tests run when they were expecting their first baby, tiny Jonas Patrick, born this month. They'd read about the conditions that weren't tested for in Utah and were concerned. So when they were invited to opt into the study at University Hospital, "We were really excited," Jessica Nelson said. "We were pretty shocked, just because Utah is a very family-oriented state and you would think that they would participate and do more screenings."
"These are the types of diseases that, if we detect and treat them early, we prevent serious consequences," Longo said.
Those consequences can include serious brain damage and even death. An estimated 5 percent of Sudden Infant Death cases are believed to result from undiagnosed metabolic disorders.
With simple therapy, "a child will have a normal or near-normal life expectancy" without any brain damage. It's important, Longo said, to begin treatment early, before damage occurs. Newborn screening enables that.
Statistically, the study is expected to detect one child with a metabolic disorder every 3,000 babies. In fact, half that number have been tested so far and one child has already been diagnosed, Longo said. While some of the conditions are very rare, no one knows which one to test which child for, so they all need to be done.
The MCAD test examines a single drop of blood to screen for about 25 disorders, said George Delavan, division director of Community and Family Health Services in the state Department of Health. If a newborn tests positive, the information is provided to the department, which contacts the doctor of record for the newborn. A positive on one of the tests is an emergency, requiring immediate treatment.
Contributing: Nadine Wimmer, KSL-TV