A teenage boy with a disease so rare that it is shared by about only 40 people in the UK has released a charity single giving an insight into his life.
Ethan Peacock, 14, has Norrie disease, a genetic disorder that causes blindness or severe sight impairment at birth and can also cause progressive hearing loss in early childhood.
The song, Unique, which he performs with 11-year-old brother Jasper in their band The Thunderbolts, aims to help the Norrie Disease Foundation arrange community events bringing people with it together. The song is being released today on Rare Disease Day.
Ethan, who lives in Kelvedon, Essex, and is a pupil at Colchester Royal Grammar School, was diagnosed with the condition at six months.
He has only limited vision and says: “I’ve always been conscious of being different but it has definitely got harder as I’ve got older. There are more expectations as you get older and situations you need to be able to tackle by yourself such as spending extra time on school work and homework, to keep up with others and remembering new braille codes and how to use specialist equipment so I can be independent.
“This song was all about being strong and resilient, something I’m determined to be. And if it makes other people realise they’re not alone then I’ll be happy. I wanted to help the charity that has made a huge difference to my life.” Ethan’s mother Theresa said: “The single reflects Ethan’s views on life — he always looks on the positive side and rather than dwelling on the negative he wants this single to inspire others to be strong.”
Norrie disease affects mainly boys and is inherited via a defect in a gene on the X chromosome. Other symptoms can include autism, cognitive impairment and delayed development. Around 40 cases are known in the UK and 500 globally. However, the Norrie community feels there are probably many more who have not been diagnosed.
Research is being conducted at the UCL Great Ormond Street Institute of Child Health to see if the hearing loss can be treated through gene therapy.
This work was pioneered by the “inspirational” Professor Maria Bitner-Glindzicz, a geneticist with a special interest in deafness who worked at GOSH until her death last September aged 55. Described as a “beacon of hope”, she died while cycling in Clerkenwell after a collision with a taxi.
Wendy Horrobin, chairwoman of the Norrie Disease Foundation, said: “The money from this single will help us fund community days where children like Ethan can interact with others and share experiences.”