Highlights

  • Canadian toddler survives after fetal therapy
  • Treatment began before birth
  • Ayla's parents earlier lost two of her daughters to the disease

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Canada: Treatment before birth for a rare genetic disease helps toddler live

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.

A toddler is thriving after doctors in the US 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.

Today, she's an active, happy girl who has met her developmental milestones, according to her father, Zahid Bashir, 41, and mother, Sobia Qureshi, 37.

"It was a very, very scary and sad time for us. Until we found out we had more options than what we expected," said Qureshi.

The couple previously lost two daughters, Zara, 2 ½, and Sara, 8 months, to the disease. A third pregnancy was terminated because of the disorder.

In a case study published Wednesday in the New England Journal of Medicine, doctors describe an international collaboration during the COVID-19 pandemic that led to the treatment that may have saved Ayla's life – and expanded the field of potential fetal therapies.

Doctors have treated fetuses before birth for three decades, often with surgeries to repair birth defects such as spina bifida.

And they've often given blood transfusions to fetuses through the umbilical cord, but not medicines.

In this case, the crucial enzymes were delivered through a needle inserted through the mother's abdomen and guided into the umbilical vein. Ayla received six biweekly infusions that started at about 24 weeks of gestation.

"The innovation here wasn't the drug and it wasn't accessing the fetal circulation," said Dr. Pranesh Chakraborty,a metabolic geneticist at CHEO, who has cared for Ayla's family for years. "The innovation was treating earlier and treating while still in utero."

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