Alveolar Capillary Dysplasia and Lung Transplant: Luca’s Story

Ashley and Thomas were expecting a healthy baby when they went to the hospital for the delivery in June 2017. At first, their new little boy, Luca, seemed fine and had no indications of health problems. But two hours after his delivery he was having breathing problems, and he turned a dark, purple-ish blue color.

Because Luca was delivered at the University Medical Center of Princeton, where newborn and pediatric care is delivered in partnership with Children’s Hospital of Philadelphia, it was a CHOP neonatologist who stepped in to immediately give him oxygen.

Intensive care at CHOP

The next day, a new problem arose — Luca wasn’t passing his stool, a failure that can be an indication of other serious medical issues. He was transferred to the Newborn/Infant Intensive Care Unit (N/IICU) at CHOP’s Main Campus in Philadelphia.

There, he was diagnosed with Hirschsprung’s disease, a condition in which the large intestine is missing the nerve cells needed to function. A colostomy bag was placed to provide a path for the waste to leave his body.

Further tests indicated that Luca had pulmonary hypertension, a condition in which there is high blood pressure in the arteries of the lungs. The pressure made it difficult for his heart to pump blood to the lungs to be oxygenated. In Luca’s case, he wasn’t able to maintain needed oxygen levels without medical support.

Over the next few weeks, members of the Pulmonary Hypertension Program kept Luca alive with oxygen and nitric oxide, and tried to get his pulmonary hypertension under control with medication.

A very rare lung disorder

When he was 6 weeks old, Luca’s medical team conducted a lung biopsy and discovered the root of his pulmonary hypertension. He had alveolar capillary dysplasia, a condition in which the tiny capillaries that transfer oxygen from the air sacs in the lungs (alveoli) to larger blood vessels fail to develop properly.

Alveolar capillary dysplasia is very rare. Only 200 cases have been reported since it was first identified in 1947, and it is almost always fatal. Babies with the condition typically don’t survive their first month. The treatment is a lung transplant, but most babies do not live long enough to receive one. Luca’s medical team put him on the transplant waiting list.

While he was waiting for his new lungs, Luca went into cardiac arrest. The pressure in the vessels leading to his lungs had risen to dangerously high levels. He was intubated for five weeks to enable more intensive support for his breathing.

“In the last week he was intubated, there was no expectation he would get better,” remembers Ashley. But he pulled through. He was successfully kept alive on high-flow oxygen for the next four weeks.

Lung transplant

On November 7, when Luca was 5 months old, Ashley and Thomas received the news that a pair of lungs was available for transplant. Christopher E. Mascio, MD, a member of the Lung Transplant Program, performed the surgery. “He was amazing,” says Ashley. “He was so calm. He took the time to explain everything that would happen.”

Luca remained intubated for about a week, and had some trouble with post-operative swelling. But as soon as the breathing tube came out, he clearly felt better. “He wanted to sit up and roll over right away,” says Ashley.

“A happy, happy boy”

Two months later, Luca went home, and has been doing well ever since. He has some developmental delays, which his medical team attributes to the many weeks he was in intensive care. At 13 months, he is just learning to crawl, but he’s expected to catch up with the developmental milestones now that he’s free of breathing supports and other constraints.

“He’s a very good-natured kid,” says Ashley, “He’s a happy, happy boy."

“What CHOP did is nothing short of amazing. In a textbook, my child would be dead. Luckily for us we had the best experts in the country caring for Luca. If it wasn’t for them, he wouldn’t be here.”