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

Dr. Chakraborty wanted to start treating Zara, but the day she was supposed to get her first infusion, her lungs collapsed, 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 ability to swallow deteriorated so much that she needed a feeding tube to eat.

She started the enzyme treatment when she was 6½ months old, but her disease progressed.

When Zara was 2 years old, her parents made the difficult decision to stop treatment and provide only palliative care. She died peacefully at home, five months later.

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Dr. Chakraborty, whose own daughter was born four days after Zara, could not help noticing the heartbreaking contrast.

In 2016, Ms. Quershi was pregnant again. Prenatal testing revealed severe Pompe once again.

Mr. Bashir and Ms. Quershi decided to forgo enzyme therapy for their baby Sara and to provide only palliative treatment.

“It was a very, very tough decision,” Ms. Quershi said. “But there was no hope out there, and we did not want her to suffer.”

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Sara died when she was 8 months old.

In early February 2020, Dr. Chakraborty got a call from Ms. Qureshi. She was pregnant again, and a prenatal test indicated that that fetus, too, had severe Pompe disease.

Ms. Qureshi and Mr. Bashir had decided that they wanted to treat this fetus, hoping treatment had improved and that even if after childbirth the baby could not be saved, perhaps her suffering would be less.

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