Before Annie was born she did not grow well and spent her first few weeks of life in neonatal care needing help with her breathing and feeding. She was diagnosed at 10 weeks old as being deaf and from then on more and more problems were identified. At 13 months old we received her diagnosis as CASK gene mutation with no one in the world having the same mutation as her.
She is now a determined, happy, noisy 7 year old. She is unable to walk or talk and communicates by smiling, laughing and shouting. She loves school, swimming and going to a children's hospice for short breaks. She has many health conditions and is again awaiting surgery but we are very proud of how far she has come!