The first children with debilitating “mystery” diseases have finally been given a diagnosis as part of a huge scheme to analyse people’s DNA.
Four-year-old Georgia Walburn-Green’s damaged eyes and kidneys and her inability to talk had baffled doctors.
She is one of the first to have her precise genetic abnormality identified through the100,000 Genomes Project.
Her parents said the day Georgia was finally diagnosed was one of the biggest of their lives.
If a child is born with Down’s syndrome or a heart defect then families know what to expect.
Yet Georgia’s mum and dad – Amanda and Matt – had only 20 minutes of “worry-free cuddling” when Georgia was born before their “world went from totally happy to totally devastated”.