The State of Care: Children's Health

By Christina Hernandez Sherwood | Portraits by Jörg Meyer

A 15-year-old girl had been living for years with a second heart after cardiomyopathy damaged her first heart. But her immune system had been fighting her transplanted heart. The longtime Columbia patient was in heart failure, which can cause extreme nausea, shortness of breath, poor blood flow, and other devastating symptoms that wreak havoc on the life of a high schooler.

“Routine things like walking or going up and down stairs became enormous challenges,” says Christopher Petit, MD, chief of pediatric cardiology in the Department of Pediatrics and co-director of the NewYork-Presbyterian Children’s Heart Center. “She was at the point where not only were those challenging, but her heart wasn’t going to last much longer.”

Removing the teen’s failing heart and immediately transplanting a new donor heart was a risky option. In its heightened state, her immune system was likely to attack the new heart, setting her up for another failure. Instead, surgeons at Columbia decided to replace the failing heart with a medical device.

In a first for Columbia doctors—and first in the northeastern United States—surgeons removed the girl’s failing heart and replaced it with a pediatric-sized total artificial heart in November 2022. The device, a smaller version of the model used frequently in adults, performs all the functions of the heart without stimulating the immune system, giving the teen time to recover from her heart failure. “It was kind of a perfect set of circumstances for her,” Dr. Petit says. “It was the right fit between patient need and a novel device.”

The teen lived with the device for nearly five months while her immune system cooled down and she waited for a new donor heart. In April, her total artificial heart was removed and replaced by a donor heart. As of the summer, she was recovering well.

Ask any pediatric clinician about treating kids and they’ll tell you: Children are not “little adults.” Children have thinner skin than adults. They breathe in more air and have less body fluid. Not to mention their bodies are growing and changing at a rapid rate. So when it comes to clinical care, children are much more than smaller versions of grownups.

With this understanding, VP&S faculty are at the forefront of pediatric patient care. They are intervening earlier, collaborating widely, and pushing boundaries to ensure that the sickest children receive treatment that is both advanced and age-appropriate. In recent years, Columbia doctors have performed a first-ever heart procedure in infants, used rapid genomic sequencing to diagnose and begin treatment of a newborn’s rare eye disease, treated children with debilitating gastrointestinal conditions using Botox, and more.

“Our people, our professionals, are the best to be found and create a culture of going above and beyond,” says Jordan S. Orange, MD, PhD, chair of the Department of Pediatrics. “We consistently go to whatever lengths necessary to find the solution for a child.”

The teen with the total artificial heart was not the only child to undergo a first-of-its-kind heart procedure performed by VP&S faculty. Just weeks after the teen received her new donor heart, two infant girls were treated by Columbia doctors as part of the first infant “domino” heart valve transplant procedure. 

A 2-month-old was born with severe valve disease, and an 8-month-old girl was in heart failure due to cardiomyopathy but had healthy valves. When a donor heart became available for the 8-month-old, Columbia pediatric cardiology and surgery teams realized the healthy valves from her original heart could be transplanted into the 2-month-old. Both infants were discharged from the hospital about two weeks after their “domino” transplant surgery and are recovering without problems.

The infants’ pre- and postoperative medical care teams were led by pediatric cardiologist Marc Richmond, MD, director of the pediatric cardiomyopathy, heart failure, and transplantation program at NewYork-Presbyterian Morgan Stanley Children’s Hospital. “Seeing how grateful the families are really just motivates us to continue to push the envelope, continue to offer these newer techniques,” says Dr. Richmond. “To be able to make a difference in the lives of patients is a gift. It’s why we’re here.”

Before their surgeries, the babies had spent most of their lives in the Infant Cardiac Intensive Care Unit, the hospital’s first-of-its-kind facility dedicated to babies with heart problems. Led by a team of neonatal intensivists, pediatric cardiac surgeons, and pediatric cardiologists, the specialized unit reported some of the lowest mortality and morbidity rates after cardiac surgery in preterm infants in the recent era, according to a 2022 retrospective review published in the Journal of Thoracic and Cardiovascular Surgery.

“Our Columbia model offers a potential structure to optimize outcomes of preterm infants with congenital heart disease,” says the paper’s lead author Nimrod Goldshtrom, MD, a neonatologist and pediatric cardiac intensivist in the unit. 

Nearly 300 babies with heart disease are admitted to the unit each year, and the volume allows Columbia researchers to study this population in the hopes of finding new and better treatments. A newborn boy critically ill with congenital heart disease took part in a prospective study to determine whether rapid genomic testing—results in less than a week—of infants with congenital heart disease would impact patient management and improve care. The newborn’s genetic test revealed that he also had cat eye syndrome, a chromosomal abnormality that often causes malformations of the eye. He was referred to an ophthalmologist before symptoms appeared.

“Sure enough, that changed the patient’s management,” says neonatologist Thomas Hays, MD, PhD. “If we can improve that child’s vision or prevent vision from getting worse, he’s going to be able to read better and see faces better and grow and thrive. Finding that information as soon as possible is crucially important.

The study, reported in Circulation: Genomic and Precision Medicine, was the first prospective study in which neonatologists quickly identified babies with congenital heart disease who were likely to benefit from genomic sequencing, says Dr. Hays. Of the 48 babies in the cohort, 13 were found to have genetic disorders related to their congenital heart disease. Eight of those infants, including the boy with cat eye syndrome, benefited from a change in management after genomic sequencing.

“Looking at the baby in front of you in the first days of life, it’s impossible to make that determination without doing the genome sequencing,” says Dr. Hays. “That’s really a paradigm shift in how clinical medicine is practiced.”

Columbia faculty have been using genetics in patient care for the past decade. The precision in pediatric sequencing program has provided clinical genomic sequencing of tumors in patients with high-risk or relapsed cancers. The program’s mission is to use cancer genomic data to guide personalized, effective treatment as clinicians make complex patient care decisions.

“We have also integrated a community-based sequencing program for any patient diagnosed with high-risk cancer residing in the New York, New Jersey, and Connecticut tri-state area,” says program leader Jennifer Oberg, EdD. “Doctors can submit their patients’ tumor samples to Columbia and we will clinically sequence those tumors to guide their physicians in making decisions about treatment.”

In another use of genetics to inform patient care, Columbia researchers joined an international, multicenter study to understand the role of genetics in the development of congenital diaphragmatic hernia, or CDH. Published in the American Journal of Human Genetics in 2021, the study found that babies with CDH who also had variants in a specific gene had a higher mortality rate.

Co-author Aliva De, MD, a pediatric pulmonologist, says the finding is critical for clinicians preparing to deliver these babies. “It also impacts the future care of these newborns,” Dr. De says “because they will require extra respiratory support and care.”

With new centers and programs focused on specific diseases and conditions, Columbia faculty are taking multidisciplinary care of pediatric patients to a new level. Launched last year, the pediatric endocrine lipids program provides diagnosis and treatment options for children and adolescents with cholesterol disorders. “The teenage years are a prime time to intervene and prevent the adult-onset complications of elevated LDL and triglycerides, such as heart disease and stroke,” says pediatric endocrinologist J. Nina Ham, MD. “The adage, ‘an ounce of prevention,’ truly does apply in this case.”

The Pediatric Gastrointestinal Motility Center at Morgan Stanley Children’s Hospital is one of only a few comprehensive pediatric neurogastroenterology and motility programs in the Northeast. Consider a tween with gastroparesis, a rare condition that impairs the stomach from properly emptying, leading to chronic GI symptoms. Nausea, distention, abdominal pain, and postprandial emesis often lead to school absenteeism and decreased quality of life. After falling behind in school, the child may develop anxiety or depressive symptoms. Such patients often have undergone an evaluation by several gastrointestinal specialists and tried a number of therapeutics that may not improve or resolve their symptoms.

“We tend to see patients who have been evaluated and treated by many other pediatric GI specialists,” says pediatric gastroenterologist Julie Khlevner MD, who was recruited in 2012 to launch the multidisciplinary neurogastroenterology and motility center. “We might be the fifth, sixth, seventh opinion. It’s frustrating for families, and also for patients, to deal with disorders and chronic GI symptoms that are not necessarily understood or adequately addressed by many providers.”

At the Pediatric Gastrointestinal Motility Center, all providers are pediatric experts who are well-versed in the complexity of these conditions. Along with Dr. Khlevner, the team includes a nurse practitioner, GI psychologist, pediatric surgeons, pulmonologists, otolaryngologists, and speech language pathologists. “It takes a village to care for patients like these with multiple complexities and pain predominant symptoms,” says Dr. Khlevner.

The team sees pediatric patients with a host of motility disorders and disorders of the gut-brain interaction, from more common conditions like irritable bowel syndrome, functional constipation, and feeding intolerance to rare esophageal motility disorders and pediatric pseudo-obstruction. These conditions can be difficult to diagnose, especially when there is an overlap with other organic disorders—data from adults do not translate to children—with often limited treatment options because developing therapeutics for pediatrics is not always a top priority. The Pediatric Gastrointestinal Motility Center has access to clinical trials, including many with Dr. Khlevner as principal investigator, and innovative technology giving patients access to cutting-edge treatments. One option for a patient with gastroparesis, for instance, is a Botox injection to the pyloric sphincter to relax it and allow food to pass through more easily and improve the symptom.

From a new wearable percutaneous electric nerve stimulator to reduce pain in children with irritable bowel syndrome to innovative research to increased interest in the neurogastroenterology and motility specialty among gastroenterology trainees, Dr. Khlevner is hopeful about the possibilities and future for pediatric patients with neurogastroenterology and motility disorders.

Who's Who

• Aliva De, MD, associate professor of pediatrics
• Nimrod Goldshtrom, MD, assistant clinical professor of pediatrics
• J. Nina Ham, MD, associate professor of pediatrics
• Thomas Hays, MD, PhD, assistant professor of pediatrics
• Julie Khlevner, MD, associate professor of pediatrics
• Jennifer Oberg, EdD, assistant professor of pediatric hematology, oncology, and stem cell transplantation
• Jordan S. Orange, MD, PhD, the Reuben S. Carpentier Professor of Pediatrics and chair, Department of Pediatrics
• Christopher J. Petit, MD, the Welton M. Gersony Professor of Pediatrics
• Marc Richmond, MD, associate professor of pediatrics