Lucy, at age 3, is a happy and active little girl who loves to make people laugh. Watching her run and play now, there’s no clue that she was born with a life-threatening lung condition and spent her first 14 months in the hospital, eight of them in the Newborn/Infant Intensive Care Unit.

Prenatal diagnosis with a critical lung condition

Alana was excited to be pregnant with her second child when a scan at 20 weeks suggested the possibility of a problem with the baby’s heart. Her doctors in New York City were concerned enough that they referred her to the Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment at Children’s Hospital of Philadelphia (CHOP) for a full workup. Alana and her husband, Andy, didn’t know it at the time, but the trip to CHOP would be the start of a shift in their lives toward Philadelphia for their baby’s medical care.

At their first visit to CHOP, they were told that the baby’s heart looked fine, but that her lungs were measuring smaller than the normal range. Imaging at a second visit at 30 weeks showed that her lungs measured less than 25% of normal volume; breathing problems were likely at birth and intervention would probably be necessary.

The condition of abnormally small lungs is known as pulmonary hypoplasia. It’s almost always related to another problem, such as a malformation in the abdomen, that puts pressure on the lungs and keeps them from growing. That didn’t seem to be the case with this baby. Her lungs were small but there appeared to be no other abnormalities.

Special delivery at CHOP

Plans were put in place for Alana to deliver the baby in CHOP’s Garbose Family Special Delivery Unit, where immediate medical care would be available to the baby if needed. At 37 weeks, “Lucy was born pink and screaming,” Alana recalls. But within minutes she started to have substantial challenges breathing.

Lucy went from the delivery room to the Newborn/Infant Intensive Care Unit (N/IICU), where she was put on an oscillator, which delivers small breaths very rapidly through a tube that runs through mouth. She remained in intensive care for eight months, under the care of a host of neonatologists, with Alana by her side almost every day.

Uniquely tailored treatment

As Lucy’s body and lungs developed and her condition changed, her medical team, led by attending pulmonologist Howard Panitch, MD, adjusted her breathing support. After early breathing support with the oscillator, she was moved to a ventilator that inflated and deflated her lungs at a normal breathing rhythm, then a BiPap (bilevel positive airway pressure) machine, which pushes air into the lungs without intubation. But her progress didn’t follow a straight line. She moved back and forth between the ventilator and BiPap. Sometimes she needed a higher level of support, sometimes a lower level.

Through all of Lucy’s ups and downs, Dr. Panitch, with the full support of Alana and Andy, kept one goal in mind: to prepare Lucy for the day when she could go home, hopefully, with minimal breathing support. They wanted to avoid, if possible, the use of a tracheostomy tube for her ventilation. While sometimes necessary, a tracheostomy (an opening cut into the throat) can make it more difficult to wean a child from breathing support and comes with the risk of complications.

“Dr. Panitch always looked at Lucy as a unique person,” says Alana, “someone with a family, who was loved. He saw her as ‘Lucy,’ not just as her condition. He never fell back on a ‘typical’ treatment for ‘this type of patient.’ He looked at her and used what he saw, combined with what he knew, to do what was right for her. There’s no limit to his interest in and dedication to his patients.”

An innovative solution to breathing support

At 8 months, Lucy moved to the Pulmonology floor. She was still on BiPap for breathing support, but Dr. Panitch was exploring a new approach to make that support less limiting — without a mask — as Lucy became more active.

He settled on a RAM cannula, which looks like a stiff nasal oxygen tube and enables pressurized inflow, combined with a portable ventilator. This combination proved to be the breakthrough that would enable her transition home with comfortable and lower-risk breathing support.

The long hospital stay

Lucy spent six more months in the hospital preparing for her transition home. She had required feeding tubes because of her breathing problems. (She couldn’t eat by mouth, and a full stomach put pressure on her lungs.) Over time, she also developed reflux. She underwent Nissen fundoplication surgery to correct the problem and, as part of that surgery, a G-tube was placed directly into her stomach for feeding.

“It’s tough to be a parent in the hospital that long,” says Alana. “I won’t sugarcoat it. There are resources available — support groups, psychologists and psychiatrists — but the most important thing for me was the support of the nurses. They really became an extension of family to me. The great ones never hesitate to cry next to you or to hold you when you’re falling. They are just incredible — so invested in the children.”

Around this time, genetic testing found the cause of Lucy’s small lungs. She had a rare mutation on the PBX-1 gene, a gene that plays a role in the development of the embryo. It wasn’t an inherited condition, simply a fluke (de novo) mutation. It’s newness and rarity means they don’t know what influence it will have on her future health and development.

Home at last

On March 10, 2020, 14 months after she was born, Lucy finally went home with her parents and 4-year-old brother, Emmett, to their new home in Baltimore. Now, two years later, she’s thriving and keeping up with her brother and her cousins, who live nearby.

“She has flourished,” says Alana. “She’s now breathing room air during the day, only getting support at night. She’s talking in full sentences, telling stories, walking and running. She likes to meet new people and make people laugh. She’s the happiest little girl.”

“Her story is extraordinary. You’d never know, looking at her, what she’s been through.”

Coordinated follow-up care

Alana and Lucy return to CHOP every three months for appointments with the Pulmonary Hypoplasia Program, which includes visits with Dr. Panitch, her pulmonologist and experts in general surgery, all of whom collaborate to ensure coordinated care. To show their appreciation for this team, Alana and Andy recently started a fund in Lucy’s name to support the program.

“I’m grateful every day for the team that took care of her and believed in her. They were looking out for her future,” Alana says.