Bettering, and Beating, the Odds

Mother and daughter, patient

Her parents’ decision to seek care at Children’s gave Ariana Gebow, now 2 (pictured here with her grandmother Pamela Keese), the chance for a healthy life.

It is the moment every expectant parent dreads. The physician examines an ultrasound and delivers devastating news: Something is terribly wrong.

For Georgia and Jon Gebow of Granite Falls, Washington, this moment came 20 weeks into Georgia's first pregnancy. A routine ultrasound revealed that the fetus had a hole in her diaphragm, the thin sheet of muscle that separates the chest from the abdomen. Part of her liver and intestines had pushed up into her chest and were severely impeding the development of her lungs. "The radiologist told me that even if our baby made it to full term, she probably wouldn't survive," Georgia recalls.

The condition, called congenital diaphragmatic hernia, or CDH, occurs in as many as one in 2,000 pregnancies. No one knows what causes it. CDH can be fatal within hours of birth, almost always results in long-term respiratory complications and is often accompanied by feeding problems.

The Gebows' experience — being told at diagnosis that their baby will likely die — is not uncommon. "The CDH diagnosis can be accompanied by an initial recommendation by the obstetric team to terminate the pregnancy," says Lani Wolfe, ARNP, a member of the Children's team that cares for these babies. "But with the right combination of expertise, medical technology and follow-up care, babies with CDH have a good chance not only of surviving, but thriving."

Fortunately for the Gebows, their obstetrician trusted Seattle Children's Hospital's years of experience and success in treating CDH and made the referral that saved their daughter Ariana's life.

A Planned Emergency

Babies with serious CDH experience respiratory distress as soon as the umbilical cord is cut and the placenta is no longer providing oxygen to the baby's blood. So the best-case scenario is prenatal diagnosis and a referral to Children's.

"Our goal is to have a comprehensive plan for treatment before the child is born," says Dr. Daniel Ledbetter, one of the surgeons at Children's who treats CDH. Ledbetter not only consults extensively with the family prior to the birth, he works closely with the family's obstetrician and the neonatologist who will attend the birth and care for the newborn as she is transferred to Children's.

"A stay in the Neonatal Intensive Care Unit (NICU) is pretty much guaranteed for CDH patients," Ledbetter says. "For someone who's never been here before, walking into the NICU is like going into outer space. So I try to give parents a sense of the severity of the situation so they can plan for it and get used to the idea."

The Gebows spent nearly a full day touring Children's and meeting with the surgeons and nurses who would care for Ariana after birth. "We researched other options around the country, but liked the idea of being close to home," says Gebow. "We liked the people we met when we toured Children's and were encouraged by the fact that both our obstetrician and neonatologist told us Children's was the place to be."

For Ledbetter, the prenatal consultation with the family is just the beginning of a long relationship that often includes multiple surgeries and extended stays in the hospital. He monitors the children's development throughout their childhood with regular clinic visits and consultation with the pulmonologists and the other specialists involved in the child's care.

Extreme Situations, Extreme Measures

Not every parent gets to prepare for a child who has severe congenital diaphragmatic hernia. On December 15, 2001, Luz Jameson's fourth child, Marissa, was airlifted to Children's immediately after delivery via C-section in Silverdale, Washington. Prior to delivery, Jameson had no idea anything was wrong with her baby.

Though she was nearly full term, Marissa's tiny lungs could not provide the oxygen her body needed and were too fragile to endure the stress of a ventilator. She needed extracorporeal membrane oxygenation (ECMO), a heart/lung bypass machine that removes carbon dioxide from the blood, oxygenates it, rewarms it and returns it to the body. ECMO can keep a baby with CDH alive long enough to give the lungs a chance to heal.

About 50% of babies with CDH need ECMO to survive their condition. Children's is the only ECMO center in the region that can treat patients with CDH. But, like any invasive treatment, ECMO has risks. The blood thinner that patients must receive to prevent their blood from clotting also makes their still-forming brains vulnerable to internal bleeding.

Marissa spent 17 days on ECMO. For Jameson, what made these tense days bearable was the support of her church community and Ledbetter's ability to explain the complex procedures in a way she could understand. "He drew pictures for me and explained exactly what was happening," she recalls.

A Village… of Specialists

Three advanced registered nurse practitioners — Lani Wolfe, Jenny Kreiss and Ronelle Caskey — are at the center of a cadre of pediatric specialists who combine forces to treat CDH and its complications. Their pivotal role is to coordinate each patient's care and help the family understand how different members of the care team — surgeons, neonatologists, pulmonologists, perfusionists, growth and feeding specialists, physical therapists, dietitians — work with their child and each other. They provide continuity, coordinating the patient's transition from the NICU to the surgical unit, on to the outpatient clinic, and, finally, through their graduation from Children's care.

All three stay up-to-date on all aspects of each child's care. "I tell families that there are three of me," jokes Wolfe. "That's how closely Jenny, Ronelle and I collaborate." Teaching families to care for a medically fragile infant at home is key to their work.

"It's our job to understand each family's unique situation," says Kreiss. "A child may be medically ready to be discharged, but we need to make sure the family is ready."

The Gebows learned how to administer supplemental oxygen and deal with Ariana's feeding tube. "Lani and the other nurses were so great — they sent us home with full instructions about medications, and tubs of medical equipment," says Georgia Gebow. "They even gave us their direct phone numbers."

Bright Futures

Though small for their ages — a result of the feeding difficulties that are commonly associated with CDH — Ariana, 2, and Marissa, 5, are thriving. "You wouldn't know at this point anything was wrong with her," marvels Gebow as she watches Ariana play with her little brother. "Marissa's doing great," concurs Jameson. "She'll start kindergarten in the fall, right on time."

"Thirty years ago, these babies only had a 50/50 chance of survival," says Ledbetter. "Now, if the child doesn't have any other major congenital abnormalities, the chances of survival are more like 75%, and can be as high as 85% or 95%, when the child is treated at an ECMO center like Children's."