“All Utah babies born after Jan. 1 will be screened for 36 different metabolic diseases, instead of just the four for which tests are now run.
Current testing identifies about 21 infants a year in Utah who need treatment for disorders. The expanded screening is expected to find another 15-20 cases.
Although metabolic conditions such as those that will be tested for are rare, their consequences, if not detected early before irreversible damage occurs, are devastating, including brain damage, permanent disabilities and possibly death, said Dr. Nicola Longo, professor of pediatric genetics at the University of Utah School of Medicine.
The possible consequence of a metabolic disorder is all too real to Dorothy Keddington, a Utah novelist and mother of six who 35 years ago nearly lost a son to a condition called congenital adrenal hyperplasia.
Daniel was about 12 days old when he stopped thriving. His color was bad, and he couldn’t keep anything down. Even in the intensive care unit at Primary Children’s Medical Center the reason was elusive. Finally a metabolic test showed that he had a condition that at that time killed half the babies who had it before a diagnosis was ever made.
Things were easier when Andrew was born four years later, Keddington said. By then she knew what to look for.
Now the brothers are both healthy 30-somethings, unaffected by their congenital metabolic disorder as long as they take their medicine, which will be needed their entire lives.
The soon-to-be-routine supplemental newborn screening by tandem mass spectrometry detects more than 30 metabolic disorders that affect how or whether the body breaks down compounds such as proteins, fats and carbohydrates to produce energy or to promote growth or healing. They include amino acid, organic acid and fatty acid oxidation disorders.
The best known of the conditions is MCADD (medium chain A dehydrogenase deficiency). Babies with MCADD cannot burn fat reserves for energy and can go into a coma and die. Studies suggest that between 5 and 20 percent of sudden infant death syndrome cases are due to MCADD. Diagnosed, parents simply wake the baby during the night and feed her. That’s typical of most metabolic disorders. They’re simple to treat if a diagnosis is made early.
The Utah Legislature recently increased the fee the Utah Department of Health charges hospitals for newborn screening kits from $35 to $65. That money will help pay for the expanded menu of tests.
Plans for the expansion have been in the works for a long time, but it’s not as simple as just ordering them, said Dr. David Sundwall, state Health Department executive director. Computer software has to be upgraded, new computers are needed, the state screening rule has to be amended, and information and education material must be prepared for both health-care professionals and families. Even the screening specimen collection forms will change. And it will require special FDA-approved paper to do the test on.
What won’t change is the experience for the baby, who will still have a single heel prick, as is currently done with the phenylketonuria (PKU) test. From there most of the tests will be run using the tandem mass technology, but five of the tests will have to be done at the Utah State Laboratory, including for CAH, biotinidase deficiency, galactosemia, congenital low thyroid and hemoglobin diseases such as sickle cell. The latter three and PKU make up the current mandated screening.
Although the expanded screening won’t be part of the routine until 2006, parents who want it now can arrange to get it through their private health-care provider. And some hospitals are beginning to offer it as part of their basic newborn care. St. Mark’s announced months ago that it would screen all babies born there with the expanded test.
Utah becomes the 30th state to offer the expanded screening, which has been a battle cry for the March of Dimes nationwide. What will make Utah unique, said the organization’s Patricia McKenna- Clark, is the public health/private health partnership that’s being set up in Utah.
To get ready for the expansion and to test the state’s capability to handle it, given about 50,000 new births a year, the Health Department teamed up with University Hospital and ARUP Laboratories for a demo project that started in late 2003. Parents of newborns at University Hospital were offered the opportunity to have the expanded screenings.
During a news conference Wednesday, Gov. Jon Huntsman Jr. called the change a “major advance for children’s health in Utah.”
More information is available online at www.health.utah.gov/ newbornscreening.
Source: Deseret News (Salt Lake City)