The Disease Took Zara, Then Sara. Could Ayla Be Saved?

Two sisters in one family died from a genetic disorder. Before a third child with the disease was born, doctors hatched a plan to spare her from its effects.

Dr. Chakraborty wanted to begin treating Zara, but her lungs collapsed on the day she was supposed to receive her first infusion, and she spent a month in intensive care, including 10 days on a ventilator. During that time, she lost all movement in her legs and her swallowing ability deteriorated to the point where she needed a
feeding tube to eat.

She began the enzyme treatment at 612 months of age, but her disease progressed.

Zara's parents made the difficult decision to discontinue treatment and only provide palliative care when she was two years old. Five months later, she died peacefully at home.

Dr. Chakraborty, who had a daughter four days after Zara, couldn't help but notice the heartbreaking contrast.

Ms. Quershi became pregnant again in 2016. Prenatal testing revealed severe Pompe disease once more.

Mr. Bashir and Ms. Quershi decided against enzyme therapy for their baby Sara, opting instead for palliative care if she had been saved, her suffering might have been lessened.

"It was a very difficult decision," Ms. Quershi explained. "But there was no hope, and we didn't want her to suffer."Sara died at the age of eight months.

Ms. Qureshi called Dr. Chakraborty in early February 2020. She became pregnant again, and a prenatal test revealed that the fetus had severe Pompe disease as well.

Ms. Qureshi and Mr. Bashir had decided to treat this fetus, hoping that treatment had improved and that the baby could be saved even if the mother died during childbirth.

Source: NY Times

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