Josh's story Deafness and developmental delay - Jeans for Genes

Josh's story

When Josh was two weeks old, his parents were devastated to learn that his retinas were completely detached and that he was blind. Then, after more tests were undertaken by doctors, Josh was diagnosed with Norrie disease, a genetic disorder affecting boys that causes not only sight loss but also deafness and developmental delay.

Josh deals so courageously with his condition. He has been learning braille at school and enjoys playing with his friends. He has been losing his hearing since the age of five and his parents are in the process of investigating the medical treatments available to prevent Josh from going completely deaf.

The money raised on Jeans for Genes Day will provide funding to set up the first UK charity for families affected by Norrie disease. It will provide a support network for those affected and will work to improve the understanding and treatment of Norrie disease among medical professionals in the UK.