IT’S the life-altering disease that affects just 25 people in the UK and one Hampshire teenager has been diagnosed with it.
Nineteen-year old Mikey Adams was diagnosed with the rare genetic condition Norrie Disease which causes blindness or severe vision impairment and autism.
Mikey, from Bitterne in Southampton, was diagnosed with the condition at six months old. Now he and his family are raising awareness of the condition which robbed him of his sight.
They have helped launch the Norrie Disease Foundation (NDF) to raise funds for research into the disease.
Mikey and his parents, Jackie and Mike helped attended a launch event for the NDF at the Institute of Child Health in London along with other sufferers.
His older sister, Cassie, 22, was unable to attend as she is away backpacking.
“Mikey was born at a time when my father was suffering from cancer so when he went for his first operation at 10 weeks old, all the problems rolled into one another,” said Jackie.
“We have felt very isolated and ignored by the authorities because of the complexity of the disease making it a real slog all of the way through because of the special provision he has had to have through school but we like Michael just the way he is.”
A secondary symptom of Norrie Disease can be loss of hearing. Fortunately Mikey has no problems with his hearing.
He is currently studying sociology, performing arts and extended projects qualification at the Royal National College for the Blind in Hereford and hopes to go to university.
Jackie added: “I have found personally that engaging with 25 other families has allowed me to build bridges and be able to pick up the phone to five or six people and talk to and get advice from families that are suffering from the same conditions.”
Wendy Horrobin, chair of the NDF and mother to Josh, age eight with Norrie disease, added: “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.
“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.”
Norrie disease causes blindness through abnormal development of the retina, the layer of sensory cells that detect light and colour, with masses of immature retinal cells accumulating at the back of the eye while hearing loss, a secondary symptom occurs in a third of all Norrie cases
The disease was first discovered in 1961 by a Danish ophthalmologist named Mette Warburg who conducted a study of 48 separate cases in families who had a son who suffered a degenerative disease in the eye which all turned out to be similar.
Ms Warburg then suggested this disease should be named after another famous Danish ophthalmologist, Gordon Norrie (1855–1941) who been a surgeon at the Danish Institute for the Blind for 35 years.
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