A toddler is thriving after doctors in the United States and Canada used a novel technique to treat her before she was born for a rare genetic disease that caused the deaths of two of her sisters.
Ayla Bashir, a 16-month-old from Ottawa, Ontario, is the first child treated as a fetus for Pompe disease, an inherited, often fatal disorder in which the body fails to make some or all of a crucial protein.
Now, she’s an active, happy girl who has met her developmental milestones, according to her father Zahid Bashir and mother Sobia Qureshi.
“She’s just a regular little 1½-year-old who keeps us on our toes,” Bashir said.
The couple previously lost two daughters to the disease. A third pregnancy was terminated because of the disorder.
In a case study published Wednesday in the New England Journal of Medicine, doctors described an international collaboration during the COVID-19 pandemic that led to the treatment that might have saved Ayla’s life — and expanded the field of potential fetal therapies. Ayla’s outlook is promising but uncertain.
“It holds a glimmer of hope for being able to treat them in utero instead of waiting until damage is already well-established,” said Dr. Karen Fung-Kee-Fung, a maternal-fetal medicine specialist at The Ottawa Hospital who gave the treatment and delivered Ayla.
Fung-Kee-Fung was following a new treatment plan developed by Dr. Tippi MacKenzie, a pediatric surgeon and co-director of the Center for Maternal-Fetal Precision Medicine at the University of California, San Francisco, who shared her research after the pandemic prevented Ayla’s mother from traveling for care.
Doctors have treated fetuses before birth for three decades, often with surgeries to repair birth defects such as spina bifida. And they’ve given blood transfusions to fetuses through the umbilical cord but not medicines.
In this case, the crucial enzymes were delivered through a needle inserted through the mother’s abdomen and guided into a vein in the umbilical cord. Ayla received six biweekly infusions that started at about 24 weeks of gestation.
“The innovation here wasn’t the drug, and it wasn’t accessing the fetal circulation,” said Dr. Pranesh Chakraborty, a metabolic geneticist at Childrens Hospital of Eastern Ontario, who has cared for Ayla’s family for years. “The innovation was treating earlier and treating while still in utero.”
