Surgery helps young child escape heart problems that plagued generations of one family - Part 2

Though many women make a rushed trip to the hospital during labor, few arrive as Tara Sharp did, after flying 90 miles by emergency helicopter. At Lucile Packard Children’s Hospital, her doctors were already aware of her baby’s prenatal diagnosis with a rare heart defect, and ready for her arrival.

“As soon as we got to the hospital, I felt relieved,” said Sharp. She had not expected to go into labor three weeks early, but had planned to deliver baby Elena at Packard Children's to allow heart surgeon Frank Hanley, MD, to rapidly assess whether Elena would need heart surgery soon after birth. “I thought, ‘We’re in the best hands possible; this is out of my control now.’”

Elena’s birth by c-section went smoothly, but her early days were not easy.

“It was touch and go,” Sharp said. “It was a full week before we knew she could breathe on her own, before the doctors were able to perform the catheterization and realized they could postpone surgery.” After 12 days in the neonatal intensive care unit, the new parents were excited to take Elena home to big sister Cecilia.

For patients with Elena's heart defect, tetralogy of Fallot, who do not need surgery as newborns, it’s better to wait a few months to fix their hearts, Hanley explained. “Since the unifocalization surgery is so extensive from a technical standpoint and in terms of trauma inside the chest, there is an advantage to waiting,” he said. But waiting carries the risk of overexposing the lungs to dangerously high blood pressure. To strike a balance, most unifocalization surgeries are performed at a few months of age. Elena returned to Packard Children’s Heart Center for surgery when she was nearly 6 months old.

In the operating room, Hanley located all the collateral arteries that were carrying blood to Elena’s lungs and used them to construct a new pulmonary artery. It’s like rebuilding the trunk of an oak tree from branches scattered around a field, he said. He tested the blood flow through the new artery to make sure it was adequate to supply Elena’s lungs. He replaced an abnormal heart valve and closed a defect between the right and left sides of Elena’s heart.

Few surgeons in the world attempt the marathon procedure, which took about 10 hours. For Hanley, it was almost routine.

“Elena’s case wasn't the simplest unifocalization I’ve performed, but not the most complex either,” Hanley said.

But for Elena's parents, it was the most important operation Hanley had ever done. After the surgery, Sharp said, “Dr. Hanley appeared out of thin air, very calm, and said everything went as expected. My husband and I just held onto each other.” The heartfelt “thank you” they offered him didn’t seem like enough, she added. “How do you thank the person who saved your child’s life?”

A few hours later, sitting at Elena’s bedside in the cardiovascular intensive care unit, Sharp was talking with cardiology fellow Loren Sacks, MD, when she had a strange realization.

“Tara told me it had just hit her that Elena would be the first member of their family who was expected to survive this disease,” Sacks said. “I sort of choked up. It was an amazing moment to be part of giving this gift to the family, especially in light of how afflicted they had been, going back through the generations.”

Elena, now 9 months old, is not yet aware of her significant place in family history. Healthy and content, she’s focused on crawling, giggling, trying to stand and munching on everything she can bite with two teeth. Meanwhile, Packard Children's genetic counseling team is still investigating the genetic basis of her heart defect. If they're able to identify the genes involved, Elena's case might shed light on the origin of tetralogy of Fallot in other families, too.

“Had Elena been born even 15 years ago, she probably wouldn't have survived,” Sharp said. “Packard Children's has changed the family forever. Looking at her, you would never know that anything had been wrong.”

 

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