Saturday 13th May saw the culmination of a year’s hard work and preparation as the Norrie Disease Foundation launched at University College London, Great Ormond Street, Institute of Child Health.
Around 70 guests gathered to celebrate the start of what promises to be an exciting journey for the Norrie Disease Foundation – a strengthening of the Norrie network and the promotion of vital new research into the condition.
The launch was opened by Professor Maria Bitner-Glindzicz, a clinical and molecular geneticist, with a special interest in deafness, from UCL Great Ormond Street Institute of Child Health. The Norrie community’s Ethan Peacock, aged 12, took to the stage to formally launch the foundation and shared a few words about what it means to him to have the Norrie Disease Foundation up and running. “The Norrie Disease Foundation gives me the chance to get to know others who share in this condition. I am looking forward to connecting with some of the older Norrie community and being able to ask the questions. And in turn pass on my experience to the younger members of the community”. You can listen to all of Ethan’s speech by clicking on this link and there is also a text link to his speech.
Families from the Norrie community were joined by members from the Norrie Disease Foundation’s Medical Advisory Board which includes special clinicians and researchers from University College London and from Great Ormond Street Hospital as well as international experts in genetics and neuroscience.
Guests travelled from around the UK to come and enjoy 2 hours of chatting, eating and taking part in a fantastic drumming workshop led by Nadia Al Faghih Hasan. It was a unique opportunity for children with the condition to meet other children like themselves and for parents to hear and share experiences and to meet members of the Medical Advisory Board. One of the younger boys with Norrie said ‘the highlight of his day was meeting an 18 year old boy with Norrie and swapping favourite radio stations’.
The exciting news was shared that new research will start into hearing loss this October at UCL Great Ormond Street Institute of Child Health thanks to funding from Newlife. This means that there is now an opportunity in the UK to better understand the Norrie hearing loss and to work towards treatment.
Dr Amina Al-Yassin, a junior doctor in genetics and paediatrics working with Professor Maria Bitner-Glindzicz at the ICH also shared the news that she will be reaching out to UK Norrie families as part of a separate research study to get a better understanding of Norrie disease – how it starts, develops and other related medical issues. If you are interested in taking part in this study please contact Amina on firstname.lastname@example.org
The charity was set up with launch funding from Jeans for Genes Day.
The Norrie Disease Foundation are very grateful to the following who so generously contributed towards the launch.
Supported by the NIHR GOSH Biomedical Research Centre
Rebecca Elliott – Children’s Author and Illustrator, wonderful logos
Edmund Hall – Wonderful banner