‘His diagnoses read like the a la carte menu at a restaurant. Our lives became an endless stream of acronyms.’: Mom shares 16-year journey to son’s rare SYNGAP1 diagnosis

“There, for the very first time, was Andrew’s entire diagnostic story. The decoder we’ve been searching for most of his life. Every milestone missed, every seizure suffered, every hospitalization, every moment his body betrayed him, every detail down to his clumsy gait, summarized in 12pt Times New Roman.”

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