Jorgi

Jorgi was born in the Autumn of October 2015 four weeks early due to IUGR. She weighed a tiny 4lbs and was born with bilateral talipes, but apart from this she was a healthy little girl. As Jorgi got older we noticed that there was something wrong with her vision because she would never give us eye contact. At 7 months old she had her 6 months neonatal review and it was then that the doctor also noticed that her vision and development were behind for her age. She was referred to physio as she was not trying to sit up, ophthalmology for her vision (she was later diagnosed with CVI) and to the child development team. It was when Jorgi was about 1 ½ years old that she was put for genetic testing but the first few results came back inconclusive. It was then the geneticist asked if we wanted to go into a study at Edinburgh University looking into people who were very small. At the same tine Jorgi was referred for an MRI. We finally got Jorgi’s diagnosis of MICPCH caused by CASK gene mutation when she was two years old . Jorgi carried on with regular therapy during this time. Her development was slow but she was making progress. Finally, one weekend, when Jorgi was 2 ½ years old, she started to crawl!  Then a couple of days later she sat up by herself. Her progress is still slow but we have learnt it’s Jorgi’s way or no way, and it is very much on Jorgi’s terms. Jorgi started nursery for children with learning disabilities at 3 ½ years old, which she loved and has now just started primary 1. She has settled in very well and we hope her progress will continue. Jorgi is still not standing on her own or walking and is non verbal, but she has her own way of letting us know what she is wanting. Jorgi is the happiest little girl with the most infectious giggle and is full of smiles (most of the time).