The Story Best of 2025: My son Charlie - and the breakthrough that changed our lives
Dec 24, 2025
James Coney, News Projects Editor at the Sunday Times, shares his poignant journey as the father of Charlie, who faced developmental challenges from birth. He recounts the family's 12-year quest for answers, leading to a breakthrough through the 100,000 Genomes Project. A transformative phone call revealed a genetic cause linked to Charlie's symptoms and identified a new disease gene, RNU4-2. The emotional connection with other families and the formation of a support group provides a beacon of hope and community.
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Early Signs Were Overlooked
- James Coney recounts Charlie's difficult birth and immediate struggles like limpness and poor feeding.
- Those early signs foreshadowed years of missed milestones and unanswered tests.
The Void Of A Catch-All Diagnosis
- Doctors labelled Charlie with 'global developmental delay' without a clear cause.
- That catch-all diagnosis left the family feeling isolated and searching for blame.
Joining A Large Genomics Study
- The family joined the 100,000 Genomes Project and provided blood samples for trio sequencing.
- Years later their samples entered a national database used by researchers for new analyses.