If 5-year-old Eowyn Pate had been born one year earlier, she likely wouldn’t be alive today.
That’s because New York state began screening for her rare genetic disorder in 2002. Before that, the little girl’s inability to break down stored fat for energy probably would have caused her to have seizures, slip into a coma and die before anyone knew what was wrong.
Instead, like all babies, Eowyn’s heel was pricked a day or two after she was born at Highland Hospital, five drops of blood were collected and the samples were sent to the state laboratory in Albany.
A couple of days later, the lab alerted Eowyn’s pediatrician that the baby tested positive for medium chain acyl-CoA dehydrogenase deficiency, known as MCADD. That discovery, confirmed by diagnostic testing, provided a scary reason why Eowyn was sleeping so much. Supplemental feedings prevented a crisis.
“We’re just grateful we did find out when we did,” says her mother, Ondrea Pate.
But a baby born today with the same disorder in Pennsylvania isn’t required to be screened for it, nor for certain other conditions that lack symptoms until they cause disabling or fatal damage.
A federal advisory committee in 2004 recommended which disorders newborns should be screened for, selecting those that can be treated if caught early, but states have the final say. Before that, most states required tests for just six disorders. Since then, states have expanded their lists, but still they don’t all agree.
“We’re moving more toward equality across the country, and equal access,” says Brad Therrell, director of the federally funded National Newborn Screening and Genetics Resource Center.
For some disorders, “every day matters,” says Dr. Michele Caggana, director of newborn screening in New York state.
The treatment for MCADD is to avoid fasting. Eowyn – named for a character in “The Lord of the Rings” – must eat every four hours. Her parents also feed her through a stomach tube daily at 3 a.m., while she sleeps. She’s otherwise a typical kindergartner at Albion Central School District who likes to swim, jump on a trampoline, dance, watch TV and play video games.
All states now require testing for MCADD except Pennsylvania, which adds it and 21 other conditions to the rules July 1.
Among the advocates for universal newborn screening are former Buffalo Bills quarterback Jim Kelly and his family. Kelly’s son, Hunter, was diagnosed at 4 months with Krabbe disease, a degenerative disorder that killed him in 2005 at age 8. Infantile Krabbe disease is typically fatal before age 2, but prognosis may be significantly better if children receive umbilical cord blood stem cells or bone marrow transplantation early.
The family’s Hunter’s Hope foundation, based in Erie County – the birthplace of newborn screening in 1962 – funds treatment and research and pushed New York to test for the leukodystrophy. In 2006, New York became the only state to test for Krabbe disease.
In 2008, Hunter’s Hope began lobbying for universal screening – meaning that all newborns in all states would be screened for all disorders for which early detection and treatment can improve babies’ lives.
“Thousands of children die each year because they’re born in the wrong state,” says Jacque Waggoner, Hunter’s grandmother and chief executive of the foundation.
If all recommended disorders had been screened nationwide in 2006, the Centers for Disease Control and Prevention estimates based on results from four states, then the number of infants identified with disorders may have been 6,439 instead of 4,370 – meaning an estimated 2,069 children were missed. The obstacles to screening expansion include cost, equipment, sufficient staff and the local or regional expertise to provide follow-up diagnosis and management, according to the CDC report.
New York is among the few states that don’t charge families for screening, which cost the state $11.9 million this year. Some states charge more than $100 per newborn.
Screening definitely saves lives, but more screening isn’t necessarily better, cautions Dr. Georgianne Arnold, a pediatric geneticist at Golisano Children’s Hospital at Strong. For some disorders, preventive treatment has thus far been disappointing in improving the health of screened babies. For some other disorders, experts disagree on the significance of the disorder, the accuracy of the screening test or the benefit of treatment.
Screened disorders that can be found in newborns are rare across the population, but the cumulative total is significant. Screening for 45 conditions in New York state led to 678 confirmed cases in 2007, which was nearly 0.3 percent of babies born, or one in 300 births, says Caggana.
“It’s never rare when it’s your baby,” Caggana says.
Arizona newborns are screened for 28 disorders, plus hearing loss.
Most commonly, a nurse takes a few drops of blood from a baby’s heel on the first day of life.
The hospital sends the sample to the newborn screening lab. If the results are unusual, the baby’s doctor is notified immediately and the doctor may request additional testing.
The Arizona screening panel includes:
• 6 amino acid disorders
• 5 fatty acid oxidation disorders
• 9 organic acid disorders
• Biotinidase deficiency
• Classic galactosemia
• Congenital hypothyroidism
• Congenital adrenal hyperplasia
• 3 hemoglobin diseases
• Cystic fibrosis
• Hearing loss
The screening panel follows the recommendations of the American Academy of Pediatrics, said Laura Oxley of the Arizona Department of Health Services, which oversees screening. According to Hunter’s Hope foundation, Arizona is the bottom three for for the number of disorders tested. The highest, Minnesota, tests for 54 disorders
Hospitals bill insurance providers for the cost of testing. For other tests, parents must make arrangements privately.
Between January and October 2008, 92 Arizona babies were identified to have 14 different serious, treatable medical conditions, according to DHS. The most common disorder was primary congenital hypothyroidism, with 43 cases found in that time period.
All 92 babies were helped to get the treatments needed, according to DHS.
By Gabrielle Fimbres, Gannett News Service