Jorgi

Jorgi was born in October 2015, four weeks early due to IUGR, weighing 4lbs. She was born with bilateral talipes but appeared otherwise healthy. As she grew, her parents noticed vision problems and developmental delays. At 7 months, concerns about her vision and development were formally noted. After genetic testing proved inconclusive initially, she entered a study at Edinburgh University for small children and received an MRI.

At age two, Jorgi received her diagnosis of MICPCH caused by a CASK gene mutation. She progressed slowly but steadily through physiotherapy. At 2½ years old, she began crawling and sitting independently. She started nursery for children with learning disabilities at 3½ and has since begun primary school.

Though non-verbal and unable to walk independently, Jorgi communicates through sounds and gestures. Her parents note that progress happens "Jorgi's way or no way, and it is very much on Jorgi's terms." She is described as "the happiest little girl with the most infectious giggle."