Josh has Norrie disease, a genetic condition which causes boys to be born totally blind or become blind in both eyes at a young age. Up to half of children who are born with this condition will also have developmental delays and behavioural problems.
Josh’s parents, Wendy and Simon, were not aware that Josh would be born with any problems and were initially discharged from hospital with no concerns. Within just two weeks, Wendy and Simon suspected something was wrong and took Josh to A&E. Doctors found that Josh had been born with bilateral retina detachment which is a common symptom of Norrie disease, it was at this point Josh was diagnosed with the genetic disorder Norrie disease.
The condition primarily affects the eye and in almost all cases leads to blindness in male infants. It also causes other problems including progressive hearing loss and developmental delays in motor skills and learning disabilities.
Despite his condition, Josh has already conquered Braille and is performing above average in school. 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.”
Another symptom of Norrie disease is progressive hearing loss which Josh began to experience when he turned six. Wendy and Simon have been speaking to Josh about what may happen in the future. Despite this, Josh loves nothing more than rocking out at home listening to the top 40 and is a huge fan of American singer Mike Posner! He has also recently discovered radio stations Absolute Rock and Radio X!
Wendy is helping to set up the Norrie disease Foundation, who this year are a Jeans for Genes grant charity. Norrie disease Foundation will receive a grant from funds raised on this year’s Jeans for Genes Day and will be used to set up the first UK support group for children and families affected by Norrie Disease.
Wendy says it is good to have other families who have children with Norrie disease to talk to and has been overwhelmed by the support she’s received.
“I’ve been working on the Norrie disease Foundation 24/7 recently. They have one in the States already but we’re setting up the UK one. Through the charity Genetic Disorders UK, I was lucky to attend the Genetic Disorders Leadership Symposium. I went with my NDF hat on and met a host of wonderful charities who were so welcoming and supportive.”
If you would like to support more children like Josh, please overdo it in denim on Friday 23rd September and help raise vital funds for children living with genetic disorders in the UK> jeansforgenes.org