New vital patient groups Deafness and developmental delay - Jeans for Genes

New vital patient groups

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. Josh’s mum Wendy explains: “He manages amazingly. He has an incredible spirit and a great sense of humour which I’m really thankful for.

“His communication is good. He uses Braille – he’s actually at Level 2 which is the highest level. He also has a cane to help him get from A to B but he doesn’t always use it appropriately. We haven’t bonded well with the cane let’s just say that!”

Josh 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.

In 2017 Josh’s mum Wendy was among a group of individuals who set up The Norrie Disease Foundation with the support of a Jeans for Genes grant.

The first UK charity for families affected by Norrie disease it provides a support network for those affected and works to improve the understanding and treatment of Norrie disease among medical professionals in the UK.

Co-founder of The Norrie Disease Foundation, Kelly Leggett explains:

“When our son was diagnosed with Norrie disease, I felt isolated and alone. I wanted to research everything I could about the disease but there was limited information online. Everything seemed so dated.

Through Facebook, I connected with two amazing mums of boys with Norrie Disease. We all had the same vision, we wanted to support families with Norrie disease and also to begin much needed vital research into Norrie Disease. In 2017 The Norrie Disease Foundation launched.

It was so important for us to bring families together, to share information and to offer support so families didn’t feel alone.

In July 2019 ,we received a further grant from Jeans for Genes and were able to host a family day in London. Being able to attend the family day and talk to other families and adults with Norrie Disease helped us as a immensely. My eldest son got to interact with other children who have siblings Norrie disease and my youngest Alfie, with Norrie disease, got to enjoy soft play and a huge bungee trampoline. It was such a fun day!

Along with this, we were able to meet professionals outside of a hospital setting and hear about research which gives us hope for our sons future.”