Novel Treatment Saves Girl From Rare Disorder

Ayla Bashir is a perfectly normal 16-month-old toddler in Ottawa, all thanks to a novel treatment for a rare genetic disease that claimed the lives of two sisters, reports the CBC. Ayla became the first child in the world to be treated in the womb for severe infantile Pompe disease, which is often fatal in the first year of life, per the New York Times. The inherited disorder claimed the lives of sisters Zara and Sara before her, but doctors saved Ayla by injecting a missing enzyme into her umbilical cord before she was born. As the stories and a study in the New England Journal of Medicine explain, doctors typically start such treatment immediately after birth, but it is often too late even then to reverse the damage. With Ayla, the early treatment appears to have been a success.

“It holds a glimmer of hope for being able to treat them in utero instead of waiting until damage is already well-established,” Dr. Karen Fung-Kee-Fung of the Ottawa Hospital tells the AP. She administered the treatment and delivered Ayla, following a plan developed by Dr. Tippi MacKenzie, co-director of the Center for Maternal-Fetal Precision Medicine at the University of California, San Francisco. While severe infantile Pompe disease is rare—only about six babies a year are born with it in the US—Ayla's case raises hope that similar fetal treatments might be used for other genetic diseases such as hemophilia and spinal muscular atrophy, per the Times.

“She’s just a regular little 1½-year-old who keeps us on our toes,” says her father, Zahid Bashir. He and his wife, Sobia Qureshi, lost Zara at age 2 and Sara at 8 months to the ailment, and they terminated a third pregnancy because of it. Babies born with Pompe develop extreme muscle weakness and often lose the ability to feed, and most die from heart or breathing problems in their first year. When prenatal tests showed that Ayla also had Pompe, doctors in Ottawa began coordinating with the American researchers. “We were all motivated to make this happen for this family,” says MacKenzie. (More medical breakthrough stories.)