The story of Theresa
BOY WITH RARE GENETIC DISEASE RELEASES CHARITY SINGLE FOR RARE DISEASE DAY
A fourteen year old boy from Essex, with the rare Norrie disease, has released a single called Unique to raise money for the charity that has given him hope.
Ethan, who wrote the words and tune for Unique, was inspired by his experience of living with Norrie disease. The lyrics of the single, which is being launched for Rare Disease Day on 28 February, conveys how he feels being different and one of the few people in the country with Norrie disease. Ethan performs the track with his brother, Jasper, the other member of their band, The Thunderbolts.
Norrie disease affects mainly boys and is a rare X-linked genetic condition that causes blindness or severe sight impairment at birth. A secondary symptom that can begin in early childhood is progressive hearing loss. Other symptoms can include autism, cognitive impairment and delayed development.
The Norrie Disease Foundation was set up to support the UK community affected by Norrie disease and to promote vital research to slow the trajectory of the disease, in particular the hearing loss. There is currently pioneering research at UCL Great Ormond Street Institute of Child Health underway to see if the hearing loss can be treated through gene therapy.
Ethan, a pupil at Colchester Royal Grammar school, was diagnosed with the condition when he six months old. Ethan said: “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.”
Theresa , Ethan’s mum said: “The single reflects Ethan’s views on life; he always looks on the positive side of life and rather than dwelling on the negative he wants this single to inspire others to be strong.”
The community is currently mourning the loss of its inspirational figurehead, Professor Maria Bitner-Glindzicz, a clinical and molecular geneticist with a special interest in deafness who worked at GOSH until her death in September 2018. Professor Maria was a beacon of hope for the community who initiated pioneering research into finding a treatment for the hearing loss associated with the disease.
Thanks to funding from donations and money raised from fundraising events, the charity recently held their first funded community day to bring together families affected by Norrie disease to share their experiences.
Wendy Horrobin, Chair of the NDF, said: “The community day was all the more poignant as missed our greatest friend and supporter, Professor Maria, who was passionate about bringing together families from rare disease communities. The charity wouldn’t exist if it hadn’t been for her passion and guidance but we are determined to make sure that the legacy she left continues.
“The money from this single will help us fund other community days where children like Ethan can interact with other people with Norrie disease and share experiences. It’s also about ensuring they have role models by connecting them with inspirational adults with the Norrie disease.
The only UK charity dedicated to Norrie disease, the Norrie Disease Foundation is 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. One of the pivotal roles of the charity will be to promote essential research into genetic hearing loss that could have a life changing effect on the development of the disease and be of benefit to the Norrie community and beyond.
To download the single https://thethunderbolts.bandcamp.com/track/unique
To volunteer, donate or simply find out more, contact www.norriedisease.org.uk