Postnatal Surgery for Congenital Cystic Adenomatoid Malformation: Emma’s Story

Emma has a bachelor’s degree in biology and chemistry, and she is now at Carnegie Mellon University pursuing a PhD in molecular biophysics. Her main research interests are in synthetic biology and protein engineering. She hopes to make scientific discoveries, knowing firsthand the positive impact they can have on people’s lives.

In 1996, when Emma was still in her mother’s womb, she was diagnosed with a birth defect. During a 20-week ultrasound, a physician near the family’s home in Pearl River, N.Y., which is just north of the New Jersey border, made the discovery. Emma’s parents, Libby and Rich, were referred to specialists at a nearby medical center; they also went to a hospital in New York City for a third opinion. At each hospital they visited, they heard a similar refrain. There was a mass in the fetus’s chest that was pushing her heart to the wrong side of her body, and there was zero chance of her survival after birth, if she was lucky enough to even survive through the pregnancy.

Libby and Rich were devastated. Then, an extended family member told them they had heard about a team of physicians on the west coast who were doing experimental research to develop techniques to fix birth defects before birth.

It was the first glimmer of hope the couple had gotten since the initial diagnosis. They were fully prepared to fly across the country for a chance to save their daughter’s life. As luck would have it, they didn’t have to. Earlier that year, two of those fetal medicine pioneers — N. Scott Adzick, MD, MMM, and Lori J. Howell, DNP, MS, RN — had relocated from California to Philadelphia to establish one of the nation’s first fetal diagnosis and treatment centers at Children’s Hospital of Philadelphia (CHOP).

Today, the center they founded — the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment — is one of the leading programs of its kind in the world, with experience treating some of the most complex fetal anomalies.

From cold call to lifesaving care for a fetal lung lesion

Rich will never forget the first call Libby made to the Center to see if they could help, and what Dr. Adzick told her.

“He said he knew what the condition was and he thought he could save [Emma’s] life,” recalls Rich. “He said he hadn’t lost anyone yet.”

The couple drove two hours south to Philadelphia for an evaluation to confirm the diagnosis and determine the plan for care. While they were there, Felicia Rodriguez, mother of the Center’s first fetal surgery patient, Roberto, was in labor.

During Libby’s appointment, the diagnosis was confirmed to be a congenital cystic adenomatoid malformation (CCAM). The plan was to have weekly follow-up appointments for the rest of the pregnancy to monitor the growth of the CCAM. If fetal heart failure (hydrops) started to develop, the team would perform fetal surgery.

“They knew what they were talking about and explained everything really well,” says Rich.

Fortunately, fetal surgery wasn’t needed. There was also the risk that Emma might not be able to breathe after birth and would need to go on an extracorporeal membrane oxygenation (ECMO) machine, which has health risks. Emma didn’t need that, either. She was born in the Hospital of the University of Pennsylvania, which is adjacent to CHOP, and transferred to CHOP via a hallway that connects the two hospitals. Thanks to medical advances and visionary philanthropy, today, women can deliver in CHOP’s Garbose Family Special Delivery Unit, which was opened in 2008.

Surgical repair of CCAM after birth

Emma was the Center’s 10th patient. Many thousands have been cared for by the Center’s expert, multidisciplinary team since. She underwent surgery to remove the CCAM when she was just 4-days-old. During the procedure, Dr. Adzick also removed the left lower lobe of her lung.

There were a few scares during Emma’s postsurgical recovery in the newborn intensive care unit in which she stopped breathing. But after a week in the hospital, she was stable and able to go home.

Since then, she’s been “a regular kid,” says her dad, noting Emma’s involvement in playing flute, ballet and soccer growing up.

Emma has long had an interest in research and medicine. Rich credits the lifesaving care she received in the very earliest days of her life, as well as the impact of going to the Center’s annual fetal family reunion event almost every year since her birth. 

Emma is now 25 and pursuing a doctorate in molecular biophysics. She works on engineering proteins, and she hopes to apply for a patent soon for her work on optimizing gene delivery vehicles. She also works on improving biological tools for a new, easily accessible super-resolution microscopy technique.

“CHOP has had a huge impact on her life,” Rich says. “We are just so grateful. For us, this is a miracle.”