Nancy McConnell, wife of Mike McConnell, and their daughter, Morgan, 17. Morgan was born with the generic disorder LCHAD.

An ordinary December morning in 1996 turned into a nightmare for Mike McConnell and his wife, Nancy. McConnell sat at his desk in his Atlanta law office when he got a frantic phone call from Nancy. She feared their 9-month-old daughter, Morgan, was dead.

 

 "When my wife tried to wake her in the morning, her eyes were rolled back in her head," he said.

 

The couple rushed Morgan to Children's Healthcare of Atlanta at Scottish Rite where she spent two weeks in intensive care as baffled doctors tried to diagnose her condition. Finally, they got an answer: Morgan had a genetic disorder known as LCHAD -- long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency -- that prevented her body from breaking down fats. Children with LCHAD can grow and develop normally, but only if parents know they need to eat a special diet.

 

"The difference between life and death is so simple if you know your child has LCHAD," McConnell said. "But without a test, you would never know your child had this disorder. They seem perfectly normal."

 

Newborn screening, a series of genetic tests on a blood sample taken at birth, can make a world of difference for children like Morgan. It allows health officials to identify babies with inherited conditions and work with parents to give them special care before certain foods, viruses or other health problems cause death or irreversible damage to their bodies and brains.

 

The CDC has called newborn screening one of the top 10 greatest public health achievements of the 21st century. Today, all 50 states screen every newborn for at least 26 genetic disorders, such as PKU, sickle cell anemia and cystic fibrosis, allowing many children to live healthy lives while managing their conditions. The process has prevented thousands of deaths and saved thousands more from severe, debilitating conditions.

 

Georgia's newborn screening program is no exception. In 2010 and 2011, the state evaluated more than 246,000 infants, identified 28,157 infants at risk for a debilitating disorder and confirmed 548 infants had one of the 28 conditions.

 

"This is truly a public health success that every baby born is tested for dozens of these conditions," said Arthur Hagar, Ph.D., director of newborn screening for the Georgia Department of Public Health (DPH). "But most parents don't even realize that the tests have been done for their children."

 

For all Georgia infants, the work happens at the DPH laboratory in Decatur. When a baby is born, the hospital takes blood from a heel stick, puts it on a special paper and sends it to DPH scientists at the lab, where the sample is analyzed and any abnormalities are recorded. The results are reported to the baby's physician within two or three days. Those rapid test results allow doctors and parents to quickly determine that a child needs special care, such as eating a certain diet, to save their lives.

 

Hagar said the newborn screening program is about more than lab results. The program connects parents with resources they need to manage their children's conditions, such as genetic counselors and specialized doctors.

 

"It's not just a lab test. We have a whole system in place," Hagar said. "The test in the lab is very important, but it's only one piece."

 

The system was not always so robust. Georgia's newborn screening program began in 1968 with a single test for phenylketonuria (PKU), which had been developed a few years earlier. The program slowly expanded to include other conditions, but like many states' screening programs, limited technology, funding and follow-up capacity prevented health officials from testing babies for more abnormalities. When the McConnells' daughter was born in 1996, Georgia's newborn screening program screened for just nine conditions and LCHAD was not one of them. As a result, Morgan's parents had no idea of Morgan's condition until she nearly died from it.

 

After that experience, McConnell became an outspoken advocate for bulking up the state's newborn screening program. He served on the Georgia Newborn Screening Program Advisory Committee for 10 years, three of them as its chair, and worked with the March of Dimes when the organization donated a mass spectrometer to the state, greatly enhancing its newborn screening capabilities. McConnell was also present the day the Georgia legislature passed a bill mandating all newborns be screened for 28 disorders, including LCHAD, in 2007.

 

"That was one of my happier days," he said. "These children's lives can be saved if you just know they have these conditions. And that's what newborn screening allows parents to do."

 

This year, the Association of Public Health Laboratories is celebrating 50 years of newborn screening in the U.S. The DPH lab will join the organization in hosting the joint meeting of the Newborn Screening and Genetic Testing Symposium and the International Society for Neonatal Screening May 5-10 in Atlanta. DPH employees at 2 Peachtree also will have the chance to learn more about the history of newborn screening with a traveling exhibit that will be on display in the lobby from April 29 - May 9.

 

Click here to learn more about the disorders covered in Georgia's newborn screening program. 

  

-Story by Carrie Gann, DPH Communications