A genetic disease killed Ayla’s sisters. A first-of-its-kind treatment is helping her survive – CBC

Ayla Bashir is the first child in the world to be treated for Pompe disease in-utero, says CHEO

Nov 10, 2022

Ayla Bashir acts like the average 17-month-old would. She’s making sounds, moving her limbs around, and grabbing at objects nearby.

These are milestones her parents, Sobia Qureshi and Zahid Bashir, weren’t sure she’d reach when she was diagnosed with Pompe disease — the same genetic condition that had killed two of her sisters.

“When she started crawling or walking or saying her first few words, etc., you look at it and you’re like, OK, she’s truly a miracle,” Zahid told The Current’s Matt Galloway.

The Ottawa-born infant is a unique case in the world of treatment for Pompe disease, a rare and often fatal disease that disables the heart and skeletal muscles.

While most babies with the disease are treated in the months after their birth, Ayla was the first child in the world to be treated in-utero, according to Children’s Hospital of Eastern Ontario (CHEO) in Ottawa.

Read more: https://www.cbc.ca/radio/thecurrent/in-utero-pompe-disease-treatment-1.6646669