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Rewriting the Book on Congenital Diaphragmatic Hernia

Posted on May 04,2016

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It seems logical that the sicker a child is, the greater the need to build their strength before committing to invasive surgery. For infants born with severe congenital diaphragmatic hernia (CDH), an often fatal developmental defect of the diaphragm, one physician at Johns Hopkins All Children’s Hospital in St. Petersburg has found another way, and it is saving infant lives.

“Nationally these kids are born and put on a ventilator. They are resuscitated, and if they get better they undergo surgical repair at roughly four to six days of life,” explains David Kays, M.D., the director of the new Congenital Diaphragmatic Hernia Program at Johns Hopkins All Children’s Hospital. “That would be considered ‘delayed repair’ and that’s the right thing to do – for some babies. The less severe they are, the more they benefit from that period of stabilization. We found that for the most severe patients, however, the less they benefit from delay of repair. So now we scientifically define their severity by combining lung size measurements before birth with physiologic data obtained in the first hour after birth.  When indicated we offer parents the option of early repair in the first four to 12 hours of life. For those most severe patients, early repair gives them a distinct survival advantage.”

We are conceptually rewriting the book on surgical timing for diaphragmatic hernia. – David Kays, M.D.

Kays, a pediatric surgeon recently recruited to Johns Hopkins All Children’s Hospital, specializes in the management of infants with CDH, which occurs in approximately one in 3,000 babies.  Based on work he did while at the University of Florida in Gainesville, he presented and authored a report in the prestigious Journal of the American College of Surgeons. While the national survival rate for severe cases is only 30 to 50 percent, Kays and his team are achieving better than 90 percent survival with early repair before ECMO in severe CDH.

One of the first patients Kays operated on after joining Johns Hopkins All Children’s was a baby named Noah. His family, who lived in North Carolina, had been told after a routine ultrasound that their child had a severe diaphragmatic hernia. His intestines, stomach and most of his liver had moved up into the chest through a very large diaphragm defect, and he would likely not survive. Doctors offered termination as the family’s first option. Noah’s parents immediately began researching physicians who specialize in the surgery and located Kays in Florida.

They packed up and immediately relocated their family to St. Petersburg so they could give birth as close to Kays and his surgical team as possible.

“With most of his liver in his chest, Noah was on the severe end, but that’s what we specialize in—the most severe kids,” Kays recalls. “Usually parents arrive with no hope. I reassured Noah’s mom that there was hope for a good outcome.

“For severe patients the process typically involves four or more operations.  Soon after Noah’s CDH repair was successfully completed, he was placed on ECMO for about three weeks,” says Kays. ECMO (Extracorporeal Membrane Oxygenation) is a very complex form of life support that acts as the heart and lungs to deliver oxygen to the child’s blood as they recover. There is not much opportunity for mobility while on ECMO, so Noah’s mom was unable to hold her newborn for the first 35 days of his life.

“After Noah was born it was very hard to hear other babies cry. He was intubated and on ECMO, so I knew it would be a long time before that happened,” she recalls. “Not holding him was very hard but it's what we had to do for him to survive. I'd stand and place my hand on his head for hours every day. My urge to hold him was very strong. When the day came when I could, it was the best day since birth. I held him as long as I could that first time. Thank you to Dr. Kays and everyone at Johns Hopkins All Children’s who impacted and assisted in saving Noah’s life.”

Noah did well and is now expected to lead a normal life. “His brain appears to have survived in great shape, which is central to a great outcome. A future risk is the development of a recurrent diaphragmatic hernia because his left diaphragm is about 96 percent Gore-Tex patch. As he grows, the Gore-Tex doesn’t grow, so the bigger the patch, the bigger the risk. Over his lifetime he has about a 10 to 20 percent chance of a recurrence.”

“Our success rate is really about understanding the fundamentals of how to take care of these kids,” Kays explains. “We are conceptually rewriting the book on surgical timing of congenital diaphragmatic hernia.  What has evolved nationally is that the sicker the child, the more physicians delay the repair—and that can result in worse survival,” Kays continues. “They have it exactly backwards. The more severe they are, the earlier the repair should be done. The less severe, the more they can benefit from delay.” Kays is likely the only physician performing early repair of CDH based on scientific measurement of disease severity.

“The most exciting part of this work is seeing the real survival potential of these kids, even the severe ones,” says Kays.

“The most exciting part of this work is seeing the real survival potential of these kids, even the severe ones” – David Kays, M.D.

How does a physician come to a conclusion like this? “Research. We tried this a lot of different ways,” he explains. “We were conceptually open-minded to different approaches to repair timing.

“We reviewed our experiences, analyzed our data, then published what we learned hoping to teach it to other physicians,” Kays concludes. “We hope to help other physicians think about this disease in new ways that will save more children.”

Children like Noah, now happy and healthy in the arms of his mother.

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