A mother-daughter quest to find fellow members of an ultra-rare genetic community — SkimNews
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- Maya was diagnosed with Nicolaides-Baraitser syndrome (NCBRS) in October 2020 at age 11, when only 61 cases existed in the scientific literature.
- Paola Nicolaides and Michael Baraitser co-authored the first paper on the syndrome in 1993 after Nicolaides identified the original patient, known as June, during 1992 rounds at London's Great Ormond Street Children's Hospital.
- Raoul Hennekam, working between Amsterdam and Great Ormond Street, identified two more patients in 2005 and with Sérgio Sousa published a 2009 study cataloging 18 new patients alongside the 5 known cases.
- By 2010 the team had identified SMARCA2 gene alterations in 34 of the 36 patients they studied — work that enabled routine SMARCA2 testing by 2016 and explains how Maya's diagnosis was made.
- Lee Reavey's son Callum became the 7th person diagnosed with NCBRS after a week of intensive testing at Great Ormond Street in July 2007.
- The mother and daughter set out to find what is now a 337-strong global genetic community across Cyprus, England, and US playgrounds and arboretums.
Why it matters: With only 337 known cases globally and no cure or medicines available, NCBRS families face profound uncertainty — the diagnosing doctor noted 'too few adults with the syndrome to know' what progression looks like. The mother-daughter reporting partnership shows how families of ultra-rare patients increasingly drive their own awareness and inquiry when traditional research offers little.
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