A mother's decision to finally search for her daughter's rare genetic condition led to a two-year investigation and a journey across three countries. The essay, published in STAT, recounts how Maya was diagnosed with Nicolaides-Baraitser syndrome (NCBRS) at age 11, when only 61 cases were known. The family was told there was no cure and little information about progression. Five years later, the mother searched online and found a community of 337 known cases worldwide, many with the same
Mother-daughter quest maps the 337 known cases of a rare syndrome
A journalist and her daughter set out to document the families and researchers behind an ultra-rare genetic condition, turning a diagnosis into a shared investigation.
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