Ayla Bashir, daughter of Zahid Bashir and Sobia Qureshi, the first patient to be treated prenatally for Pompe disease.

In 'mirac­u­lous' case, doc­tors treat­ed a ba­by with a rare ge­net­ic dis­ease be­fore she was born

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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