CHARGE Syndrome
Like all babies, Lily’s story begins before she was born. But unlike others, her history is complicated by a rare condition called CHARGE syndrome, a genetic pattern of birth defects that occurs in about one of every 10,000 births worldwide. An extremely complex syndrome, CHARGE is characterized by extensive medical and physical difficulties that vary from child to child and require an integrated, multidisciplinary team approach that places the child at the center of care. Lily’s medical team at Children’s Memorial Hermann Hospital included a diverse team of maternal-fetal medicine and pediatric subspecialists working in concert to provide exceptional care including– maternalfetal medicine, pediatric cardiology, neonatology, pediatric cardiovascular surgery, pediatric surgery, craniofacial surgery, medical genetics, pediatric imaging, pediatric otolaryngology, pediatric pulmonology, pediatric orthopedic surgery and pediatric critical care.
The story begins when a radiologist read the results of her mother Christi’s 16-week sonogram and found that Lily had a cleft lip and palate and also noted some abnormalities of the heart. A second ultrasound confirmed the original findings, and Christi was referred to the Pediatric Cardiology Clinic at Children’s Memorial Hermann Hospital and The University of Texas Health Science Center at Houston (UTHealth) Medical School. Lily was diagnosed with complex congenital heart disease and followed by the hospital’s pediatric cardiology team during her fetal development.
When she was delivery by scheduled cesarean section on June 23, 2009, Lily weighed 6 pounds, 10 ounces. “It was a big event,” Christi says. “The delivery room was filled with specialists from maternal-fetal medicine, medical students and staff from the Children’s Transport Team. My husband Tyson and I knew there would be concerns as soon as Lily was born, and we expected her to be swept away to neonatal intensive care. It was an extremely emotional event, and we knew this was just the beginning of an intense journey.”
Lily was put on a ventilator to sustain breathing and given medications to keep her heart pumping normally. Six days after she was born, pediatric cardiovascular surgeon William Douglas, M.D., performed Lily’s first open heart surgery, a modified Norwood procedure done as part of a two-stage operation.
“Lily had an underdeveloped aortic arch and a narrowed aortic valve,” says Dr. Douglas, who is chief of pediatric cardiovascular surgery at Children’s Memorial Hermann Hospital, head of the Children’s Memorial Hermann Heart Institute and an associate professor of pediatric cardiovascular surgery at the UTHealth Medical School. “Her left ventricle was of normal size but the outlet from the ventricle to the blood vessels was narrowed. As a result, the only good outflow from Lily’s heart was the one originally connected to her lung. She had a hole between the left and right side of her heart. We divided the artery that normally goes to the lungs, re-routed it into the aorta and created a tunnel inside the heart between the left ventricle and the original artery going to her lungs. The new outflow goes from the left ventricle through the hole in the heart through the tunnel toward the blood vessel to the lungs, then back to her aorta. The blood flow to her lungs is supplied by a tube on the outside of the heart.”
The national mortality rate for the Norwood procedure is 15 to 18 percent. “Lily had significant heart disease. Having a complicated genetic syndrome like CHARGE makes a case even more challenging,” Dr. Douglas says. “One of the major risk factors for the Norwood procedure is the presence of a genetic syndrome. So the Norwood procedure plus CHARGE syndrome gave Lily a predicted mortality of 30 to 35 percent.”
“One thing led to another,” Christi says. “When we started feeding her, we realized she had major stomach issues and major reflux.”
KuoJen Tsao, M.D., an assistant professor in the department of Pediatric Surgery, performed a Nissan fundoplication and gastronomy-button placement to relieve her gastroesophageal reflux disease (GERD).
“By then, we had received news from the genetics team that Lily had tested positive for CHARGE syndrome, and from then on we basically took time to heal,” Christi says. “We were nursing the lungs, learning to tolerate feeding, fighting infections and just getting medically stronger.”
In February 2010, plastic surgeon John Teichgraeber, M.D., co-director of the Texas Cleft-Craniofacial Team at UTHealth, repaired her cleft lip. Later that year, he repaired her cleft palate.
“By mid-June it was time for her second heart surgery,” Christi says. Two days after performing a heart catheterization, Dr. Douglas completed phase two of the repair procedure. When Lily was unable to maintain a normal heart rate, he placed an internal pacemaker.
After a four-month hospitalization, Lily left Children’s Memorial Hermann in October 2010.
Since then, she’s been gradually growing stronger. “Lily is a phenomenal little girl who has beat the odds and has intense determination,” her mother says. Christi and her husband give kudos to the anesthesia team, Chaplain Services and the physical therapists and occupational therapists who worked with Lily while she was hospitalized, and also to the hospital’s team of Child Life specialists.
“They were always there for Lily, and they made our visits a little more tolerable,” Christi says. “We’re grateful that we’ve been able to work with such a phenomenal medical team. They’ve made the journey a little easier by being dedicated to building a bright future for her.”
“Lily’s progress is a big thumbs-up,” Dr. Douglas says. “From a heart standpoint, her prognosis is good. In the last two years, she has overcome some major medical hurdles. We count that as a big success.”