Research Story Tip: Johns Hopkins Children’s Center Pediatric Patient Beats Blue Baby Syndrome
When Chelsea Presock and David White learned they were expecting, they couldn’t have been happier. Halfway into the pregnancy, however, they received shocking news: their little bundle of joy had a heart defect. They were referred to Johns Hopkins Children’s Center (JHCC), and their unborn baby girl was diagnosed with a rare congenital heart abnormality called tetralogy of Fallot (TOF), as well as an absent pulmonary valve (the valve that keeps deoxygenated blood on its way to the lungs from backflowing into the heart).
A combination of four heart defects that can lead to lack of oxygen in the blood and reduced blood flow to the lungs, TOF can cause blue baby syndrome, a condition in which a baby’s skin can turn blue, often at birth. However, with her absent pulmonary valve, Presock and White’s unborn baby was experiencing a compression of the airways that could lead to insufficient levels of oxygen for survival. Fewer than 1% of babies with congenital heart disease have the same diagnosis.
In the early morning hours of Nov. 21, 2019, Presock went into labor. She and White made the three-hour drive from their home on Deal Island on Maryland’s Eastern Shore to JHCC to ensure their baby received the critical care she needed. Their daughter, Navy, was welcomed into the world later that same day. When she was born, her lips and feet were blue, along with some of her fingers.
“We didn’t know the seriousness of the situation until they rushed me to cut the umbilical cord,” White says.
Navy was soon taken to the pediatric cardiac intensive care unit and placed on extracorporeal membrane oxygenation (ECMO), a system that provides heart-lung bypass support outside the baby’s body.
“I’ve only had a moment with this child and thinking about the ‘what if’ of ‘will I have to bury this child?’ That was definitely the scariest,” Presock recalls.
Though her condition is considered extremely rare, Navy is one of an estimated 1 million children in the United States with a congenital heart defect. According to the U.S. Centers for Disease Control and Prevention, about 40,000 babies each year are born with congenital heart defects.
Navy remained on ECMO for four days after she was born and suffered a mild stroke, which can be a complication from the bypass support system. “It’s overwhelming to see all of the lines, the beeping and the medicine, but then you see all this care around her and it makes up for it,” Presock says.
After she was removed from ECMO, Navy did well at first but soon she began to face other serious health concerns not related to her heart condition. She developed reflux and was unable to keep food down. She was diagnosed with necrotizing enterocolitis (NEC), a bacterial inflammation that can ultimately destroy the wall of the intestines. Navy was placed on intravenous antibiotics to fight the NEC and underwent abdominal surgery to treat her reflux so that she could eat.
Separate from these problems, Navy also had difficulty breathing. Lung scans showed that one of the lobes of her lungs was larger than the other. Doctors at JHCC performed a lobectomy, taking an enlarged lobe off her right lung.
Little Navy’s journey into the world was profoundly challenging, and she remained in the hospital for two and a half months. Finally, she healed enough to go home and get bigger and stronger to prepare for eventual heart surgery. During this time, Navy also was routinely followed by JHCC doctors, including Bret Mettler, M.D., director of pediatric cardiac surgery and co-director of the Blalock-Taussig-Thomas Pediatric and Congenital Heart Center at JHCC.
Eight months later, in September 2020, Navy had open-heart surgery at JHCC to fix her TOF condition and absent pulmonary valve by closing the hole in her heart, moving her pulmonary arteries and making them smaller. The eight-hour operation was successful, and 10 days later, Navy left the hospital.
“Navy was a profoundly sick baby who faced many challenges at such a young age because of her unique heart condition and so many other serious health concerns,” Mettler says. “She has come through everything amazingly well, and will be able to live a healthy life.”
JHCC doctors continue to follow Navy, who is now 14 months old, because she could need another heart operation later in life. Her parents say that she’s thriving, adding that Navy is sassy and loves peanut butter and jelly.
“I want her to be healthy and happy and have a full childhood,” White says.
“Navy would not be here without Johns Hopkins Children’s Center,” Presock says. “The reason God put surgeons here is for people like Navy to be fixed.”
Presock, White and Mettler are available for media interviews.
February is American Heart Month, a time to raise awareness for conditions affecting the heart, for both adults and children.