17:27 12 January 2016
Four-year-old Georgina Walburn-Green was born with damaged eyes and kidneys. She is unable to talk, (although she understands her parents), has lumps inside her eyes, and has not grown as quickly as other children. Although it was obvious that something wasn’t right, doctors cannot provide her parents with a diagnosis.
Her mum and dad, Amanda and Matt, had only 20 minutes of “worry-free cuddling” when she was born before their “world went from totally happy to totally devastated.”
Amanda said: "That was very hard, I assumed if she was poorly, you go to hospital and it might be awful, but you'd know what's wrong and you deal with it.
"We didn't know if she would walk or talk or have a normal life expectancy.
"It's been a rollercoaster of what's going to turn up next, you're just on this unknown journey slowly finding problems."
"And we don't know if she'll ever speak, she understands us and desperately tries but can't make the sounds she wants to," her mum added.
Doctors have long suspected that Georgia’s symptoms were down to errors in her DNA, which may have been inherited from her parents.
Through the 100,000 Genomes Project, which is focused on understanding the genetics of cancer and rare diseases, Georgia was finally diagnosed. Just before Christmas, Georgia’s parents were told that an abnormality that affects the KDM5b gene has been identified.
"That was one of the biggest days of my life, we've been searching for this for four years," Amanda said.
Although the diagnosis will not change Georgia’s treatment, it offers hope that there will be a therapy in the future. Also, the Walburn-Green family can try to have more children without worry as the diagnosis confirmed that Georgia’s mutation arose spontaneously rather than inheriting it from her parents.