ADAM'S STORY

When Francine Mafi was 16 weeks pregnant, she was told that her baby, Adam, was going to die. "My doctors told me that Adam may not make it to 20 weeks, and in the rare chance that I carried him to term, he would have any number of problems," Francine recalls.

"At 20 weeks, he was still alive. At 30 weeks, his liver was the size of a 22-week embryo's entire abdomen, but he was still making it," she continues. "When he was born at 36 weeks, what they had thought was an enlarged liver was in fact an omphalocele, a condition in which a baby is born with its intestines outside of the body."

As difficult as that diagnosis may be for a parent to accept, the worst for Francine was yet to come. At birth, Adam was put on a ventilator because fluid in his lungs had prevented them from developing correctly. His condition quickly became so critical he was transported to CHOC for ECMO - Extra Corporeal Membrane Oxygenation - a procedure that takes over the work of a baby's sick or injured lungs so they can rest and heal.

"When we first got to the Neonatal Intensive Care Unit (NICU) at CHOC, Adam was put into a big room in the corner that he had to himself. At first we thought that was pretty great; until we realized that room was where the really sick babies go," Francine recalls.

That was the beginning of Adam's four-month stay at CHOC. When he was removed from the ventilator, it was the first time Francine ever heard her baby cry, being on the ventilator had prevented him from crying before. It was also the first time she was able to hold him since his birth.

"I remember the doctors discussing whether or not they should perform surgery right away, or wait until his lungs were more mature. Every time they talked about doing surgery now, Adam required more ventilator support. Every time they talked about postponing it, his need for support went down. I'm convinced somehow he knew what was going on," Francine says.

Adam's doctors at CHOC ordered a CT scan, which revealed that his problems were much worse than first expected. Adam was diagnosed with Pentalogy of Cantrell, a rare syndrome that includes five anomalies: the above mentioned omphalocele, along with a hole in the diaphragm, a heart defect, a defect of the membrane that surrounds the heart, and a defect of the breast bone. Only 5.5 cases per 1 million live births occur each year.*

"Somehow, I knew Adam would be OK. I felt it from the very moment my doctor told me that Adam would not make it to 20 weeks. I just knew we'd bring him home, even when his doctors said he would die. When his surgeons came out after only an hour and half and said Adam made it through just fine, I felt my prayers had been answered."

Francine developed a close relationship with many of the NICU nurses who cared for Adam at CHOC. "At CHOC, they don't just treat the patient, they treat the entire family. We received so much support and love from the nurses and doctors at CHOC. Nurses who weren't even involved in Adam?s care would ask me how Adam and I were doing," Francine recalls.

Today, Adam is nearly 3 years old and, according to Francine, a daredevil. "Other than having reduced lung capacity (he has 60%), and having to avoid contact sports because his heart is not completely covered by his sternum, he is a perfectly normal little boy who enjoys trying to keep up with his four older sisters."

*National Center for Biotechnology Information