Research Triangle study may help save children's lives

RESEARCH TRIANGLE PARK, N.C. (WTVD) -- Three North Carolina children with a disease that could have taken their lives now have bright futures thanks to a study by the Research Triangle Institute.

The Research Triangle Institute's Early Check study voluntarily screens newborns for diseases not included in traditional heel prick tests on infants collected by the state.

That includes spinal muscular atrophy or SMA.

"Who knew that these children could have a future, different than what the diagnosis says," said Jennifer Lee of Franklin County referring to her two youngest children who have SMA but are not symptomatic.

She and her husband, Shane, know all about how quickly SMA can ruin a child's muscles and their ability to stand, eat, and even breath on their own.

Their first child, Jocelyn, was diagnosed with SMA four months after she was born in 2007.

But it was already too late.

"We were told, 'Take them home and love them,' that you're not going to have them forever," said Lee speaking about not only Jocelyn but her 8-year-old son Nathan who also has SMA.

SMA stole Jocelyn's life when she just 4 years old.

The Lees' second child, Trey, was just a year old when his big sister died.

He doesn't have SMA but is a carrier.

Nathan was born two years after Trey and again Jennifer and Shane Lee had to endure an SMA diagnosis.

She pointed to his stroller where he reclined and noted all the equipment saying, "He is dependent on the BiPAP to breathe. He has a feed pump."

The couple's third son Asher, who was born two years after Nathan, is an SMA carrier but like his big brother Trey, is free of the actual disease.

His 4-year-old sister Kirra however, has SMA.

Fortunately, just months before she was born the Food and Drug Administration gave the green light to one of the first treatments for SMA.

It worked so well it now has full approval.

Nodding to Kirra Jennifer Lee said, "Being dosed at 11 days, she's still to this day, turned 4 in March, not showing any symptoms of SMA. She's running, skipping, jumping."

The same is true for her 19-month-old sister Jessa who also has SMA and was given the therapy drug seven days after she was born.

Although it wasn't available when he was born, Nathan also takes the drug and his parents said they believe it has prolonged his life.

Knowing there were treatments that worked, the Lees were thrilled when the Early Check program added SMA to its voluntary testing study for newborns.

So was UNC Hospitals' pediatric geneticist Dr. Cynthia Powell.

"The sooner we identify them, usually within the first two or three weeks of life, we're able to institute treatment and the treatment has been very effective," Powell said.

Last month, more good news came.

Because Early Check was able to identify SMA in three children whose parents didn't know they were at risk and ensure them a better life, the state has now decided to add SMA screening to its heel prick regimen.

"What a blessing that these children will get a chance to have to have this medicine, to have this drug, and to stop symptoms, to stop SMA in its tracks," said Jennifer Lee.

Early Check is still testing for other childhood diseases and the Lees recommend that all parents of newborns volunteer for those tests as well.