One Family Keeps the Faith

UF doc has made believers out of many with his treatment strategy for a life threatening birth defect

By Karen Dooley

When Johnny DiFusco was a fragile fetus growing and forming safely in his mother’s womb, everything seemed to be going as planned – at first. He received plenty of nourishment from the placenta through the umbilical cord. His organs began to develop nicely, including the four chambers of his heart, his intricate little brain and the slippery skin that covered his tiny body. But sometime during the sixth week of gestation, something happened to his tiny midsection that would lead to a dangerous and life-threatening defect.

Ordinarily at this point, the diaphragm forms to separate the chest from the abdomen, allowing the lungs to develop into fully formed organs and the intestinal tract to migrate from its temporary home in the umbilical cord to its proper location in the abdominal cavity. For reasons unknown to physicians and medical researchers, sometimes the diaphragm forms too late or the intestines move too soon. A small glitch like this in Johnny’s development resulted in a congenital diaphragmatic hernia (CDH).

About one in 3,000 babies in the United States is born with CDH, which leaves a hole in the diaphragm muscle that allows the abdominal organs to migrate into the chest – impeding lung development and lung capacity. Newborns who don’t survive usually die during the first days or weeks of life.

Johnny’s parents were told their unborn child suffered from this congenital anomaly after a routine ultrasound at 18 weeks showed Johnny’s stomach was taking up valuable space in the left side of his chest. The experts in the DiFuscos’ hometown of Chicago and in Philadelphia said the chances of their baby surviving were no better than fifty-fifty. Marty and Sue DiFusco, who have a fiercely strong faith, felt their baby’s fate was in God’s hands. Still, they had to find a way to increase his odds. And they did. They came to Gainesville, and Sue delivered their baby at Shands at UF, giving him more than a 90-percent chance at life.

At UF, the chances of survival for a child born with CDH are dramatically improved because physicians put their faith in a “revolutionary” treatment strategy rather than a traditional method – to treat these babies.

And, what is the revolutionary strategy?

“Less is more,” said pediatric surgeon David Kays, quoting an oft-used cliché.

By applying gentle ventilator therapy rather than standard hyperventilation, and delaying corrective surgery, Kays and his colleagues at the UF College of Medicine report a 92-percent survival rate among CDH-affected babies who are delivered and treated at Shands Children’s Hospital at UF compared to the national survival rate of about 50 percent. UF surgeons reported their success rate in a study that was published in the September 1999 issue of the Annals of Surgery.

Kays, who was recruited to UF in 1992 due to his experience in treating CDH babies, learned the technique from its Columbia University inventors, surgeon Charles Stolar and ventilation specialist Jen Wung, MD, while serving a clinical fellowship there. Kays credits Wung with first challenging the universally accepted hyperventilation method of treating babies with breathing problems.

“In 1985, Jen Wung told the world that if you don’t hyperventilate the babies, they actually do better,” Kays explained. “And nobody believed him. Now, we’ve done it here, and it makes it believable.

“If you think about it, it’s very counterintuitive. Here you have a baby whose lungs are too small and don’t have normal gas exchange,” Kays said. “Yet, we’re supposed to turn the ventilator way up and overventilate. No wonder these poor little lungs eventually fail from that much ventilation.”

When the UF study came out in 1999, the only neonatal centers in the nation reporting results using the novel treatment were Shands, Boston Children’s Hospital and Columbia. The word is spreading and more centers are slowly implementing the therapy, Kays said. But not many.

“It’s hard to convince people that this will work,” Kays said. “It’s very hard for doctors if they’re not true believers – if they haven’t experienced the therapy before. It’s hard for them to not escalate the therapy.

“They’re standing there watching the baby get worse, and if they turn the ventilator up, the levels get better and the baby looks better. But it’s short term. In the long term it decreases the baby’s ultimate chance of survival. You have to have a lot of faith.”

Faith is what it took for the neonatologist in UF’s neonatal intensive care unit to accept Kays’ approach when he first arrived. He came to their unit and, with CDH cases, took over control of the ventilator and just about every aspect of the babies’ care.

“The neonatologists are credited with the success of the program,” said Max R. Langham Jr., chief of pediatric surgery at the UF College of Medicine who also has pioneered care for babies with diaphragmatic hernias. “They are there to protect the care of their kids on the ventilators. It had to be hard for the NICU doctors to have a surgeon come in and manage the ventilator. That’s just not the way things are done in most places. But, there was minimal amount of resistance, and they allowed David to do his thing. You need supporters of the program. Without it, it’s no more than a good idea.”

A good idea with results

It was mid-summer when the DiFuscos first learned of their baby’s condition. They were referred to the Maternal-Fetal Medicine section at Northwestern University where doctors confirmed the diagnosis made by Sue’s obstetrician.

“They didn’t feel comfortable treating our baby there because it was such a severe case,” she said. “They sent us to Philadelphia where they were supposed to be the best in performing in-utero surgery.”

Sue was in the 24th week of her pregnancy when she and Marty flew to Philadelphia to meet with physicians at Children’s Hospital of Philadelphia. After a 10-hour day of tests and consults, the DiFuscos learned two things: The hospital had dissolved the in-utero surgery program for CDH cases about six months earlier due to its unacceptable mortality rate, and Johnny’s liver had joined his stomach, spleen, left kidney and intestines in his chest, classifying his diaphragmatic hernia as extremely severe. The unborn baby’s chance at life went from 50 percent to 30 percent, according to the doctors at CHOP. Termination of the pregnancy was the only thing physicians at CHOP could add to the couple’s list of options. An option the DiFuscos would not consider.

“That was the most horrible day of my life,” Sue recalled a day after giving birth to Johnny in a Shands delivery room. “I cried the whole way home. I didn’t know what to do. Should I plan for my baby’s funeral or should I pick out colors for his nursery? I didn’t feel a lot of hope then and thought I should return all the baby gifts we had received.”

Missionary work

“It became our mission to find the best possible care for our child,” said dad, Marty. “Our baby’s health is ultimately in God’s hands, but we were still going to turn every stone. People were not going to do it for us.”

One day Marty turned a stone with a click of his computer mouse and found a reference to the 1999 Annals of Surgery article on the Internet that listed David Kays as the lead author, whom he immediately called.

“I spoke to his secretary who said he would return my call,” Marty said. “It was about 11:00 at night Chicago time when he called me, and we spoke for an hour and 20 minutes. He didn’t sugarcoat the problem. We had a very sick child, but he would do his best to help him survive.

“I was so restless. I couldn’t wait to tell Sue that I found someone who could offer us hope,” Marty said. “Hope is what Dr. Kays gave us for the first time since our baby was diagnosed. We flew to Gainesville to meet him in October but, to be perfectly honest, we knew before we even got down here that we were going to have our baby at the University Florida.”

After another full day of tests for Sue and a marathon question-and-answer session with Dr. Kays, plans for a Shands delivery were established and, for the first time, the option of termination never came up.

This time, on the plane ride home, Sue’s thoughts focused on the six weeks she had to spend with her baby. No matter what was going to happen after he was born, for the next six weeks he would be safe and comfortable inside her womb – and he would be alive, she thought.

Sue, 31, a pharmaceutical sales rep, and Marty, 43, who sells medical imaging equipment, made their plans for an extended stay in Gainesville.

Johnny was born Dec. 13 at 37 ½ weeks. Right away his condition was poor. The 5-pound-13-ounce baby was placed immediately on extracorporeal membrane oxygenation, or ECMO. Kays explained that ECMO is used for life support only with the most severe diaphragmatic hernias.

“We try to put as few babies as possible on ECMO,” the surgeon said. “Right now about one-third of our CDH patients require it, and we’re always trying to decrease that. ECMO is a great life-saving therapy, but management is much nicer if we can avoid it.”

Johnny needed the more complex form of ECMO – venoarterial ECMO – in which blood was drained from the right side of his heart, then passed through a mechanical heart and a mechanical lung, re-warmed and then returned to the left side of his heart through the carotid artery. This relieved his tiny heart from having to pump all that blood to the lungs.

Johnny’s condition didn’t improve much in the next few days – his kidneys struggled to function, his heart wasn’t working well, and his liver was big and dilated in the left side of his chest. Kays made the risky decision to operate on Dec. 19, while the newborn was still swollen and the risk of bleeding was dangerously high due to ECMO.

“It was a very difficult three hours,” Kays recalled later. “You have this huge defect and the child is completely anticoagulated. You’re trying to do surgery but not cause bleeding and not injure anything. Meanwhile, the liver is so big you can’t see anything, and you can’t move it down out of the chest.”

With the organs finally moved into the shrunken abdominal cavity, Kays used a Gore-Tex patch to create an entire left diaphragm. He had to use another on the abdominal wall because Johnny’s little midsection just couldn’t hold all those new occupants.

Marty and Sue meanwhile kept the faith. They rented a furnished apartment off Southwest 13th Street, Sue optimistically pumped breast milk every four hours and they prayed.

The weeks following surgery didn’t get much easier. Johnny was taken off ECMO on Dec. 26, but he didn’t tolerate it well and was placed back on the life-support system on Jan. 1. The tiny newborn had several close calls. Kays said, “He tried to die on us so many times.”

“This is a child who is so marginal that it just takes the smallest change, like removing a canula, and wham! He tries to die,” Kays said with an exhausted tone after Johnny came off ECMO for the second and final time Jan. 9. “With Johnny, he’s really been pushing the envelope. But we all believed that he could survive.”

And he did survive. After coming off a second roller coaster ECMO run and regaining his strength, Johnny underwent eight successful surgical procedures. He was weaned off the ventilator and various medications, struggled through a range of CDH-related feeding problems and finally left Gainesville and the only home he had known – Shands NICU. He went home to Chicago with his mom and dad on April 8.

For six months, the family made Gainesville their home. They arrived in town the day the Gators football team blew their national title hopes by losing to Tennessee, they kept vigil over their son’s progress in the NICU the day the entire hospital was abuzz with the news of Steve Spurrier’s resignation, they watched the city burst into brilliant color when the azaleas and dogwoods bloomed, and they left just before the north Florida temperatures began to rise to sweltering degrees.

“Without a shadow of a doubt, this is the best place on the planet for us to be right now,” Marty said from his son’s bedside. “For two reasons. First, we know on paper that it’s the best chance our son has. But also because of something more intangible that you don’t always see in medicine today. We know there’s a difference with the level of care Johnny’s receiving with Dr. Kays.

“Dr. Kays was in the room during the delivery to resuscitate our son and has barely left his bedside since. His passionate and tireless commitment to his CDH kids is truly remarkable,” Johnny’s father continued. “There were many long nervous nights as our son’s life was on the line when my wife and I literally slept in rocking chairs next to him in the NICU. Dr. Kays occupied the third chair, rarely sleeping, just staring intently at Johnny and observing his every movement.

“Dr. Kays and his staff provide an unparalleled level of continuous care that we firmly believe saved our son’s life on more than one occasion.”

With the DiFuscos’ mission complete, Kays’ continues. While treating Johnny, two more CDH babies were delivered at Shands with inquiries coming every week. One day he received two calls from parents expecting children with diaphragmatic hernias – one from Farmingville, N.Y., and another from Bogota, Colombia.

Spreading the Gospel

“Unless there is somebody at the institution who believes, and who sits there and makes it happen, it won’t happen,” Kays said of UF’s treatment plan for CDH. “I’m there at the delivery, I oversee resuscitation in the delivery room and manage the ventilator, their fluids and ECMO if needed. This treatment requires a team effort. The people I work with are wonderful and very supportive, but absolutely one person should be in charge, and that continuity of care that we provide here is why so many babies do survive.”

Kays has built a following of grateful parents throughout the years who credit him and the UF team with “creating an environment in which our children could heal, grow and overcome this defect,” as one parent-support-group Web site states. The emotional bonds that develop between the parents and Kays can often be dangerous – but only for the physician.

“It’s so hard to separate my emotional side from these kids,” said Kays, a father himself. “With Johnny, my mood was so affected by how he was doing. I try not to let it affect me that way, but we’re talking about a little boy’s life. It’s not something you can just shrug off and say ‘oh well, had a bad day at work.’”

And what does one of the inventors of the modern respiratory care strategies for newborns think about UF’s success rate (which is slightly higher than Columbia University’s)?

“David Kays should be congratulated for swimming upstream and persevering despite doubters. One of the supreme pleasures of teaching is seeing one’s students succeed,” said Charles Stolar, MD. “Because so much of the pediatric surgery and neonatology world was highly skeptical about what we (at Columbia) were doing and questioned the veracity of our outcomes, it has been especially gratifying that the experience has been successfully reproduced not only by David and his colleagues, but also at Boston Children’s, Cincinnati Children’s and others.”

Langham and Kays are searching for ways to “spread the gospel” outside the walls of Shands and UF. They would like to see an endowment established to support a fellowship to provide training for young physicians. More physicians armed with faith in the treatment strategy means more babies’ lives could be saved.

“You have to believe in the therapy to make it happen,” Kays said with the passionate conviction of a preacher on a pulpit. “I am its disciple. I didn’t invent this. I just happen to do it very well.”