|Jill Kelly (l) speaks with Stephen Monaco (r) of Woodbridge, Va. Monaco has isovaleric acidemia, an inability to process the amino acid leucine. Because the disorder was not diagnosed at birth, he experienced severe neurological damage. In back (clockwise, from l) are former quarterback Jim Kelly, NICHD deputy director Dr. Yvonne Maddox, and Stephen’s sister, Caroline. Caroline was diagnosed with isovaleric acidemia before birth at an NICHD research center. Early treatment prevented the neurological damage experienced by her brother. The Monaco children attended the event with their mother, Jana Monaco, an outspoken advocate for newborn screening research.
NICHD officials recently inaugurated a research program to enhance newborn screening. As directed by Congress, the program was named in honor of National Football League Hall-of-Fame quarterback Jim Kelly, formerly of the Buffalo Bills.
Newborn screening involves routine diagnostic testing to identify serious, often fatal, disorders at birth, so that these disorders can be treated. The tests usually involve analyzing a sample of blood, taken from an infant’s heel. Authorized by the Newborn Screening Saves Lives Act, the Hunter Kelly Newborn Screening Research program
seeks to carry out, coordinate and expand research in newborn screening. The program also supports research to increase the number of conditions that can be diagnosed at birth, to understand the long term effects of living with these conditions and to foster the development of new treatments.
“It is fitting that the NICHD’s research program in newborn screening bears Hunter Kelly’s name,” said Dr. Susan Shurin, acting NICHD director. “Through the foundation established
in his memory, Hunter’s family has increased awareness of the need for research to expand newborn screening and worked tirelessly to ensure that routine newborn screening and treatment can be expanded to cover a far greater number of disorders than is possible today.”
Jim Kelly explained that when his son was diagnosed at the age of 4 months with Krabbe disease, a rare, fatal genetic disorder affecting the nervous system,
he was devastated by the news and was not inclined to talk about Hunter’s
diagnosis with anyone. He said his wife, Jill, disagreed and urged him to use his celebrity status to foster public awareness of the disorder.
“We knew that we couldn’t sit back and watch other kids with other diseases suffer like ours did,” he said.
The Kellys and their family members established the Hunter’s Hope Foundation
to raise awareness and fund research for Krabbe disease and related disorders
(known as leukodystrophies) and to support families affected by these conditions. The foundation also advocates for expanded and universal newborn
screening for all possible diseases.
An HHS-led effort to standardize newborn screening across the states began in 2001, said Dr. R. Rodney Howell, special assistant to Shurin and chair of the HHS advisory committee on heritable disorders in newborns and children. The Health Resources and Services Administration convened an expert group to evaluate available research evidence on newborn screening and to make recommendations.
The panel recommended screening for 29 primary conditions for which treatment
is currently available and what it referred to as 25 secondary target conditions.
These are conditions for which diagnostic tests are available, but for which treatments are generally not. Today, the majority of states screen for the 29 primary conditions.
In 2007, more than 4.2 million U.S. infants underwent newborn screening, Howell added, citing statistics from the National Newborn Screening and Genetics Resource Center. Of these, a total of 4,220 infants were diagnosed with significant hearing defects and another 7,189 infants were diagnosed with biochemical abnormalities or defects in the blood protein, hemoglobin, totaling more than 11,400 infants. Like vaccination, newborn screening has an extremely advantageous cost-benefit ratio, Howell said.
NIH newborn screening research seeks to expand the number of conditions for which screening and treatment are available. Howell said that studies conducted
under the authority of the Hunter Kelly Newborn Screening Research Program
will include research to identify new screening technologies as well as on managing conditions that can be detected through screening.
NICHD also recently funded the Newborn Screening Translational Research Network Coordinating Center, to provide infrastructure support for newborn screening researchers to investigate potential candidate conditions for screening,
to identify new screening tools and to develop potential treatments for these disorders.