Birth defect often prevents families from holding infants until baby's last breath

By Kay Quinn, Healthbeat Reporter

KSDK -- An emotional rally was held in St. Louis Tuesday, led by two grieving families who recently lost babies to congenital diaphragmatic hernia (CDH), a birth defect more common than muscular dystrophy and spina bifida.

Cadan Frericks was just 12-days-old on December 6, 2008, and Ryann Smith was just nine days old on January 5, 2009, when they died of CDH in the neonatal intensive care unit at St. Louis Children's Hospital.

One of the most heartbreaking parts of both stories is that the first time their parents got to hold them was in the final moments of their lives.

"You just want to do that the whole time," recalls Tiffany Frericks, Cadan's mother. "You just want to snatch them up and make it all better because you're their mom and you can't and that's really hard."

Tears fall each time Tiffany Frericks recalls her son's death. The same is true for Jaime Smith each time she remembers her daughter Ryann's death.

"They immediately took her tubes out and everything so we were able to hold her for her last two breaths and they put her in our arms and we held her," says Jaime.

These two mothers, their husbands and other families of babies with CDH held a news conference at St. Louis Children's Hospital to raise awareness.

"Not one of us, not one of these families that you see here, had ever heard of it until we got the diagnosis," says Frericks.

They also launched a fundraising campaign with an organization called Breath of Hope to launch funding to answer so many of the mysteries behind this birth defect.

For unknown reasons, the diaphragms of babies with CDH don't form properly, and their abdominal organs end up moving into the space the lungs would form in.

One in every 2,000 babies is born with CDH. The main complication is their small and weak lungs and about half of these babies die before their first birthday.

CDH is easily diagnosed in an ultrasound in the middle of pregnancy, but there isn't any treatment before delivery and only supportive care after.

"One of the things that we really want to do is to try to understand whether and if so what genes are involved," explained Dr. Sessions Cole, a neonatologist who treats CDH at St. Louis Children's Hospital.

Eight babies at the hospital died last year from the condition.

Doctors at St. Louis Children's Hospital say they are part of a national database registry to collect and track information on children with the condition. They plan to recruit faculty candidates that are able to explore fetal surgery intervention and are working to collect DNA for analysis. The Frericks and Smiths were hoping for a miracle for their babies.

"It really has made me a better person," says Smith. "I'm really sorry to say that something like this had to happen to me to make me go out and do something like this, but it will always keep her memory alive."

Now, by funding research, they'll try to help other babies yet to be born.

"We'll some day see him again and hold him and there won't be any tubes and we'll be able to hold him forever," says Frericks.