This is such a powerful story, illustrating how end diagnostic discovery (the long process where someone doesn’t have a diagnosis) has a huge impact on parents - just mentally but then also finding support and practical aspects. It’s also a great story of infrastructure and enablement
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Nicky Whiffin
A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...
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