Like many toddlers, 1-year-old Nora Zalinski’s favorite activities are very … well, active.
“She loves jumping off of the furniture,” her mom, Michaela Zalinski, said with a chuckle. Nora also tries to imitate anything her energetic big brothers, Jaxon, 5, and Elijah, 3, are doing, Zalinski said.
All three children were born with cystic fibrosis, a genetic disease that affects the lungs and digestive system. But in important ways, Nora’s medical trajectory has not imitated her brothers’.
Both boys developed severe intestinal blockages in utero, requiring surgery as newborns to remove large portions of injured bowel. When a prenatal ultrasound scan showed a similar blockage emerging in Nora, Zalinski and her husband, Jacob Zalinski, were worried.
But an article they read about a woman with CF who had taken a new treatment for the disease while pregnant gave them hope; the treatment, a three-drug combination called Trikafta, reduced disease signs in her baby at birth. Michaela Zalinski didn’t have CF, but might Trikafta help her developing baby too? She hoped so and asked her medical team at Lucile Packard Children’s Hospital Stanford if she could try the drug combo.
Approved in 2019, Trikafta is part of a wave of new CF treatments that precisely target the gene mutations underlying the disease. As far as her medical team could tell, no one had treated a mom like Zalinski who carried the CF gene but didn’t have the disease and was pregnant with an affected fetus.
“It was a high-risk situation,” said Carlos Milla, MD, professor of pediatrics and director of the Cystic Fibrosis Center at Stanford. The boys’ severe bowel blockages, the ultrasound showing the same problem developing a third time and the option to try something new were all compelling, he said, adding, “In the past, we could intervene only after the baby was born.”
“Our primary concern was that we could injure this mother who otherwise would not be taking Trikafta,” said Susan Hintz, MD, professor of pediatrics and medical director of the Fetal and Pregnancy Health Program at Stanford Medicine Children’s Health. After weighing possible side effects of the drugs, the doctors went ahead. “It was a heroic effort on the team’s part,” said Natali Aziz, MD, Michaela’s high-risk obstetrician at Stanford Medicine Children’s Health.
Zalinski didn’t start taking Trikafta until more than halfway through pregnancy, which worried the family — as the previous mothers with CF had taken it from the outset. “We had no clue if it was actually going to do anything for us,” she said. “We were just hoping.”
On further prenatal scans, Nora’s blockage seemed to disappear, a better result than the physicians expected. They warned that this might mean Nora’s bowel had perforated; they wouldn’t know until she was born.
Right after her birth on March 12, 2022, the medical team performed an X-ray with a contrast agent to see Nora’s digestive system. Everything was healthy. Unlike her brothers, she did not need surgery.
“We were so relieved,” Zalinski said. Both boys required months of hospitalization after birth; Jacob and Michaela, thrilled when 4-day-old Nora was released from the hospital, giddily learned to adjust a car seat for a newborn.
“Our team is so encouraged to know there is a possibility to shift patients like Nora to a much easier road,” Hintz said. “For all of us, that is the most exciting part of this work.”