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My son is one of just 16 who has a condition with no name

created: June 7, 2025, 6:14 a.m. | updated: June 7, 2025, 10:24 a.m.

His mum and dad want to track down the parents of the other children with his condition to better understand their son's diagnosis and offer support. Jack has a mutation of the PPFIBP1 geneFor the first few weeks of his life, Amanda and Nick's fourth child Jack appeared completely healthy. The results showed Jack has a mutated PPFIBP1 gene. "They explained that every gene has two copies and with this particular gene I carry one mutated copy and Nick carries another mutated copy," said Amanda. Alongside all of this Amanda is continuing her search for other parents of children with Jack's condition.

14 hours, 34 minutes ago: BBC News