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What is Pompe disease? Doctors cure girl with deadly genetic disease before she is even born

In the world's first such procedure, doctors injected enzymes into the mother's stomach six times, which traveled down the umbilical cord to the fetus
Representative image (Getty Images)
Representative image (Getty Images)

ONTARIO, CANADA: In what was the world's first such procedure, doctors treated a girl with a deadly genetic disease before she was even born. Little Ayla Bashir has infantile Pompe disease, a rare condition caused by a mutation in a gene.

It is the gene responsible for an enzyme that keeps cells healthy and its mutation is fatal. To treat the condition, Ayla's mother was given an enzyme therapy that was injected into her stomach six times and traveled to the fetus via the umbilical cord. The now 16-month-old Ayla is growing normally after doctors were successful in treating her as a fetus. She is also the first child treated for the disease as a fetus. "Ayla is now a regular little one-and-a-half year old who keeps us on our toes," her mother Sobia Qureshi told Daily Mail. "It's surreal. It amazes us every time. We're so blessed. We've been very, very blessed." The hereditary disorder killed two of her sisters when they were two-and-a-half-years and eight months old.


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In late 2020, Sobia Qureshi and Zahid Bashir discovered they were pregnant with Ayla. Both parents carry a recessive gene for the condition, meaning there was a one in four chance that their baby would inherit it. Prenatal tests showed the baby had Pompe disease. Doctors injected her mother six times with the crucial missing enzymes, which traveled down the umbilical cord to the fetus.

Ayla still has to take drugs to suppress her immune system as well as weekly enzyme infusions lasting five to six hours. In such children, the worst-case scenario is that the body refuses the infused enzymes, preventing the therapy from working. Doctors now hope they have treated Ayla early enough to reduce the strength of her immune response. 

What is Pompe disease?

Pompe disease affects less than one in 100,000 babies, but it is fatal and genetic. The rare disease is caused by a mutation in a gene that makes an enzyme responsible for keeping cells healthy. The enzymes break down glycogen in the cells, ensuring it was kept at a safe level. The enzyme, acid alpha-glucosidase (GAA), is needed to break down glycogen, or stored sugar, in cells. Without it, cells are flooded with glycogen and stop working, eventually shutting down major organs.

Babies that suffer from Pompe disease have trouble feeding, muscle weakness, floppiness and often have enlarged hearts. If untreated, most die from heart or breathing problems in the first year of life. Dr Pranesh Chakraborty, a metabolic geneticist at Children's Hospital of Eastern Ontario, who has treated Ayla's family for years, said, "The innovation here wasn't the drug and it wasn't accessing the fetal circulation. The innovation was treating earlier and treating while still in utero." Doctors have treated fetuses prior to birth for three decades, including performing surgeries to repair defects such as spina bifida, where the spinal cord fails to develop properly. They’ve also given blood transfusions to fetuses through the umbilical cord, but not medicines.