Non-verbal, non-mobile S’pore girl joins global hackathon where experts try to solve medical mysteries
The Undiagnosed Hackathon aims to help the 60% of rare disease patients worldwide still without a diagnosis.
Sarah Swee, a 14-year-old girl from Singapore, participates in a global hackathon aimed at solving medical mysteries. Born after 38 weeks of gestation, she exhibits symptoms such as stridor, difficulty swallowing, facial palsy, and delayed growth. Her mother, Jasmine Lee, explains that Sarah cannot speak, move, or breastfeed and has been tube-fed since birth.
Despite numerous medical tests, no diagnosis has been found, and doctors are uncertain about her condition. Koh Ai Ling, a geneticist at KK Women's and Children's Hospital, notes that Sarah's case is complex, involving a brain stem disorder, facial nerve palsy, and severe developmental delay. The Undiagnosed Hackathon, a 48-hour event, brings together experts from around the world to collaborate on rare, complex cases.
This year's Southeast Asian edition, held at KK Hospital, involved 140 professionals from 32 countries collaborating on 25 cases. The event, which includes proteomics for the first time, aims to provide a diagnosis for undiagnosed individuals, offering clarity about their symptoms, potential monitoring needs, and possible treatments.
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