Baby Ayla has a rare disease. Many children die from the disorder. But the toddler is thriving—thanks to a novel treatment performed while she was still in the womb.
God the Creator cares about how disease and death harm His creation, for He “knitted me together in my mother’s womb.” (Psalm 139:13)
Ayla Bashir inherited Pompe disease. Pompe disease prevents the body from breaking down glycogen, or stored sugar, in cells. When that that happens, glycogen builds up dangerously throughout the body. Soon after birth, doctors treat babies with the disease with replacement enzymes. These can slow harmful effects of the condition.
Babies with Pompe disease have trouble eating. They also display muscle weakness, floppiness, and often, enlarged hearts. Untreated, most die from heart or breathing problems in the first year.
Today, Ayla is an active 16-month-old 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 says. The couple previously lost two daughters to the disease. They have two children without the disorder.
A study in the New England Journal of Medicine describes how an international partnership may have saved Ayla’s life—and broadened the field of fetal (pre-birth) therapies.
Doctors have treated babies before birth for three decades. Procedures range from birth defect surgeries to blood transfusions. Ayla was the first to be treated for Pompe disease in the womb.
Ayla’s case “holds a glimmer of hope for being able to treat [babies] in utero,” says Dr. Karen Fung-Kee-Fung. She is a maternal-fetal medicine specialist at The Ottawa Hospital in Canada. She gave the treatment and delivered Ayla. Waiting for birth before starting treatment can allow damage to become established.
Fung-Kee-Fung followed a groundbreaking plan developed by Dr. Tippi MacKenzie. MacKenzie is a pediatric surgeon and co-director of the San Francisco Center for Maternal-Fetal Precision Medicine. She shared her research with Fung-Kee-Fung after the pandemic kept Ayla’s mother from traveling.
For Ayla’s treatment, doctors injected crucial enzymes through Qureshi’s abdomen and into the umbilical cord. Ayla received six biweekly infusions starting at about 24 weeks.
When Bashir and Qureshi learned that Ayla had Pompe disease, Qureshi says, “It was very, very scary.”
Ayla receives drugs to suppress her immune system. She also has weekly five- to six-hour enzyme infusions. That’s a challenge for a wiggly toddler. Unless new treatment emerges, Ayla will continue infusions for life.
Ayla’s parents say each milestone, such as crawling, is especially precious. “It amazes us every time,” Qureshi says. “We’ve been very, very blessed.”
Why? God knows our frame. He remembers we are dust. And He promises life everlasting to those who believe in Him. But He also cares about our health struggles and equips people with remarkable abilities to bring mercy into painful situations.
