A BLACKHEATH mum has set up a charity for families impacted by the same rare genetic disease which her young son has.
Wendy Horrobin launched Norrie Disease Foundation (NDF) to support the Norrie disease community across the UK and to promote research at the Institute of Child Health in Central London on Saturday(13).
Wendy’s son Josh was diagnosed with the condition that causes blindness or severe sight impairment at birth, when he was two weeks old.
He is now eight and enjoys mainstream school and bouncing on his trampoline with his 10- year-old sister Chloe however he his hearing has also started to change. Josh’s family are now detirmined to do everything they can to slow the progress of the disease which can lead to a loss of hearing and is associated with other conditions such as autism, cognitive impairment and delayed development.
The mum-of-two has teamed up with two other families – Tom and Kelly Leggett and Theresa Peacock to set up the charity to promote greatly needed research on the condition. Currently there is only know to be 25 families in the country affected by Norrie Disease but it is believed more widespread awareness of the condition will reveal more cases.
Wendy Horrobin, the chair of NDF, said: “There wasn’t a Norrie disease network in the UK that I could reach out to for support and guidance when Josh was diagnosed which is why I decided to get in touch with other Norrie parents to set up the Norrie Disease Foundation.
“Raising awareness and educating the public about Norrie disease is a critical part of the work the NDF will do. We want to change the future for those affected by Norrie disease and believe that through the Medical Advisory Board, we can engage in new research across all aspects of the disease that will improve the lives of children and adults with Norrie disease worldwide.”
The charity will be guided by a high profile medical advisory board, which includes specialist clinicians and researchers from University College London and from Great Ormond Street Hospital as well as international experts in genetics and neuroscience.
Professor Maria Bitner-Glindzicz, a clinical and molecular geneticist, with a special interest in deafness said: ‘Little has been known about the disease but thanks to funding from Newlife, for the first time ever, we now have an opportunity in the UK to conduct research into the loss of hearing and to work towards treatment”
The charity was set up with launch funding from Jeans for Genes Day.
To volunteer, donate or find out more, contact www.norriedisease.org.uk