Groundbreaking treatment successfully used on baby girl before she’s born

To all outward appearances Ayla Bashir is a normal, happy, 17-month-old child. She began crawling right on time, and today she stands and walks, plays with toys, and has started saying her first words and phrases. The reason she’s able to thrive today is thanks to a new way of treating her rare genetic disease — a form which is often fatal.
Sobia Qureshi and Zahid Bashir, Ayla’s parents, have five children, with only three surviving. Two of their children, Zara and Sara, succumbed to a severe form of rare genetic disease called Pompe disease. In Pompe disease, an enzyme responsible for breaking down glycogen isn’t produced by the body, or doesn’t work properly, which causes dangerous levels of glycogen to build up in the body. This damages tissues in the body, especially muscles. Babies with the disease have low muscle tone and can have trouble eating and breathing. Eventually the heart muscle thickens and is unable to pump blood, causing the baby to die.

After Zara died of the disease at age two and a half, and Sara passed away at eight months old, Ayla’s parents were desperate to help their fifth baby, who also tested positive for severe Pompe’s disease in utero. Dr. Pranesh Chakraborty, a metabolic geneticist at Children’s Hospital of Eastern Ontario and the family’s long-time doctor, had previously tried treating both Zara and Sara with the enzyme. However, by the time they were able to start, the disease had advanced, and too many of their internal organs were severely affected.
Because Pompe disease starts to affect infants before birth, the best hope is to try in-utero infusions – something that had never previously been used to treat the condition. “The innovation here wasn’t the drug and it wasn’t accessing the fetal circulation,” said Dr. Chakraborty, according to the Washington Post. “The innovation was treating earlier and treating while still in utero.”


By: Miss Cherry May Timbol – Independent Reporter

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