A toddler is thriving after doctors in the U.S. 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 fetus for Pompe disease, an inherited and often fatal disorder in which the body fails to make some or all of a crucial protein.
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.
Babies with Pompe disease have trouble feeding, muscle weakness, floppiness and, often, grossly enlarged hearts. Untreated, most die from heart or breathing problems in the first year of life. Both parents carry a recessive gene for Pompe disease, which means there’s a 1 in 4 chance that a baby will inherit the condition. Bashir said their decision to proceed with additional pregnancies was guided by their Muslim faith.“We believe that what will come our way is part of what’s meant or destined for us,” he said. They have no plans for more children, they said.
“This is a progressive disease that builds up over time, so every day a fetus or baby has it, they’re accumulating more of the material that affects muscle cells.”
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