This Time, Hope

After receiving the same rare diagnosis
that ended in tragedy decades before, a
family finds hope in a new era in
cardiac care

It felt as if lightning had struck twice. Jack Rychik, M.D., director of the Fetal Heart Program at The Children's Hospital of Philadelphia, looked at the ultrasound image and gave expectant parents Tara and Adam devastating news: Their unborn baby's heart had only three functioning chambers, instead of the normal four.

Tara immediately understood the gravity of the diagnosis. Twenty-eight years before, her little sister, Erin, had been born with the same extremely rare heart defect: double inlet left ventricle. Despite medicine's best efforts at the time, she died at the age of 3.

Though she now feared for her own child, Tara soon realized how much had changed in the decades since her sister's death. For one thing, her baby, still in the womb, was already a patient of the renowned Cardiac Center at Children's Hospital.

More about The Cardiac Center

Beyond Survival

Babies born with complex heart defects once faced dismal odds. Today, thanks to CHOP and other institutions that have pioneered advances in surgical repair, catheterization techniques and treatment strategies, most survive. In fact, more than half a million children with congenital heart disease in the United States are now growing toward adulthood.

But survival is only the first step. As these children age — the oldest are in their 20s and 30s — doctors have begun to realize that many are experiencing complications later in life, such as learning and developmental disabilities, growth delays, and lung and liver disease. The next great challenge for clinicians and researchers is to understand why these late effects occur and how they can be mitigated or even prevented.

Abigail

Tara gave birth to Abigail Brigid Heinze in Children's Hospital's Garbose Family Special Delivery Unit. In her first two years of life, this determined little girl has undergone two open-heart surgeries, and will soon have a third. She has been cared for by some of the world's leading pediatric cardiac clinicians. But one of the most innovative aspects of her care is just beginning.

Abby is among the first patients to enroll in CHOP's NeuroCardiac Care Program (NCCP), created to follow children with complex congenital heart defects from infancy onward. The program brings together specialists from multiple disciplines to screen for issues such as learning disabilities, motor-skill delays and other developmental problems that are more common among survivors.

Because some of the services it provides aren't covered by insurance, the NCCP is one of the innovative programs at CHOP that relies partially on philanthropy. Not only will current patients reap the benefits of such focused attention, research conducted by the NeuroCardiac Research Group, led by J. William Gaynor, M.D., a cardiothoracic surgeon at CHOP, will provide invaluable new knowledge and help improve school performance and other long-term neurodevelopmental outcomes for future patients. The NCCP is led by Gil Wernovsky, M.D., medical director, and Jean M. Carroll, R.N., M.S.N., program manager.

"When our patients experience problems, such as difficulty in school," says Wernovsky, "those are our problems, too. We want to empower families to best manage their children's care and ensure they thrive."

Abby will also have the opportunity to be part of CHOP's new Single Ventricle Survivorship Program, an interdisciplinary effort focused specifically on the unique medical needs of children whose hearts have just one ventricle. Led by Rychik, the program will enroll patients from across the nation. As with the NCCP, there will be a constant and reciprocal flow of knowledge from research lab to clinic — today's patients both benefiting from and contributing to the development of ever-improving treatment strategies.

As Rychik observes: "In one generation, a baby succumbs. In the next, a baby survives, but with a new set of challenges, many of which are unexpected. While we are optimistic, the future is uncertain. Our efforts must continue to be focused on finding solutions to these new challenges, in order to help today's survivors as well as generations yet to come."

Full Circle

For Abby's family, her remarkable progress brings some resolution to the tragedy they faced many years ago. Her grandmother, Carol, still grieves the daughter she lost, but rejoices in hope for Abby's long life.

"Watching Abby thrive is happiness," she says. "It makes me so proud that we've come this far – to have been a part of it, to know that Erin's life wasn't in vain."