One of the tenets of pediatric rare diseases is early treatment. For most, that comes after newborn screening — a heel blot soon after a baby is born, with results usually around a week later. If the results suggest a baby has a rare disease, they are directed to start treatment as soon as possible.
In a groundbreaking first, researchers and doctors from the University of California San Francisco, Duke, and the University of Ottawa treated a baby with Pompe disease, a debilitating genetic disease in which sugars build up in cells and cause heart and muscle problems, long before said newborn screen — while she was still in her mother’s uterus. The case, published in NEJM on Wednesday, is the first instance that an enzyme replacement therapy, a type of treatment used for Pompe and other lysosomal storage diseases, was given to an unborn child.
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