Rady Children’s helps twins born with heart defects
By B.J. Walk
When newlyweds Debbie and Jamie Hughes watched the 2004 HBO movie “Something the Lord Made” about doctors fighting to save infants with “blue baby syndrome,” they were deeply moved by the film’s portrayal of the drama and heroism of pediatric heart surgery.
Eight years later, the couple has lived through that same drama, and they are grateful to the cardiologists and surgeons at Rady Children’s Hospital-San Diego who saved the lives of their twin daughters.
“We love the Cardiology team at Rady Children’s, said Debbie. “For us, they are like the Knights of the Round Table.”
Avery and Mackenzie Hughes, two radiant girls who just started kindergarten, were born with tetralogy of Fallot, the medical term for blue baby syndrome. This congenital heart defect creates a hole between the heart’s left and right ventricles, and it blocks blood flow through the pulmonary arteries to the lungs, depriving babies of oxygen and causing them to turn blue.
Tetralogy of Fallot is not uncommon, but it is rare for the disorder to afflict newborn twins and rarer still for the babies to have different versions of the defect. Avery was born with a moderately severe but typical type of the disease. Mackenzie was born with tetralogy of Fallot with absent pulmonary valve.
“In Avery, the pulmonary valve was too small, and it partially blocked blood flow to the lungs, but it didn’t leak,” said Christopher Davis, M.D., Ph.D., the girls’ cardiologist and an assistant professor of pediatrics at the University of California, San Diego. “In Mackenzie, the valve was essentially non-existent and it leaked severely, so her condition was somewhat more serious.”
Debbie and Jamie have searing memories of the aftermath of the twins’ birth.
“A neonatologist heard a heart murmur in Mackenzie but not in Avery,” Debbie recalled. Mackenzie needed an infant echocardiogram, and she was immediately transported to Rady Children’s.
Given that the sisters were identical twins, doctors decided to play it safe, and they sent Avery as well.
“It was such a weird experience,” said Jamie. “We went from feeling really excited — ‘Oh my God, the twins are here!’ — to learning that Mackenzie had a heart problem and was going to be taken away. But we still had one twin — and then Avery was taken away. In the space of three hours, we went from two baby girls to none.”
Dr. Davis was the on-call cardiologist that day, and he felt instant empathy for the new parents. “My son is the same age as the twins, so that made us bond a little,” he said. “I had to explain to them that both girls would need heart surgery in the first few months of life and would need to be followed very carefully. All things considered, they reacted extremely well.”
The couple remembers reacting quite differently. “When you see your baby lying on the table, you feel completely helpless, and it’s easy to freak out,” said Jamie. “At Rady Children’s, the doctors and nurses understand that. They probably see a lot of parents freak out. So they take extra time to explain things.”
Debbie, who is herself a trained nurse, added, “Everyone at Rady Children’s is knowledgeable and approachable. They don’t just care for their patients — they care for the whole family. And decisions are made collectively by pediatric teams. I’d rather have more than one head thinking about our options.”
The first treatment challenge was nourishing the babies to a viable weight for surgery. “They used up so much energy in trying to breathe and eat that they were burning off all their calories,” said Debbie.
Their surgeries were performed at 4 months by John Lamberti, M.D., director of Rady Children’s Heart Institute, the Eugene and Joyce Klein Director of Cardiovascular Surgery at Rady Children’s and a professor of surgery at UC San Diego. Dr. Lamberti devised separate but parallel strategies to restore blood flow to the twins’ hearts.
“To fix Mackenzie’s heart, I had to narrow the pulmonary arteries by removing a portion of them and implanting a valve,” he said. “To fix Avery’s heart, I had to enlarge the pulmonary arteries by patching them and then take out the valve.” As they grow in age and size, both girls will need to have their valves replaced, but their long-term prognosis is excellent.
“They are active, thriving girls,” said Dr. Davis. “As long as they are followed appropriately and appropriate procedures are done, they should be able to have normal lives, play sports, have children, and live a long time.”
These days, when Avery and Mackenzie visit Rady Children’s, they bring gifts of Girl Scout cookies, bright smiles, and boundless energy. Their parents are proud of the girls’ resilience and optimistic about their future.
“We don’t hold them back,” said Jamie. “They have made it through a lot.
It’s part of who they are, and they will have strengths and each other to draw on throughout their lives.”
Originally published in U-T San Diego, October 2012