On 2nd December the first Norrie disease conference in the UK took place at UCL GOSICH and what a milestone! Six years ago the Norrie Disease Foundation was created by 3 parents who weren't in touch with any other Norrie disease families in the UK. There was no research in the UK and no reliable information relating to the condition which causes mostly boys to be born blind at birth and to suffer from progressive hearing loss from childhood. Other symptoms include cognitive and physical impairment, developmental delay and autism. Norrie disease is ultra rare and around 50 families are know to the Norrie Disease Foundation in the UK.
Fast forward to 2nd December 2023 and 80 in-person guests, families & 50 virtual attendees from around the world came together to hear brave & beautifully spoken personal accounts by parents & teenagers about living with Norrie disease. The whole point of this conference was to bring people together to share experience and research findings in a way that was inspiring, energising and fun! Norrie Disease Foundation Chair and Co-founder Wendy Horrobin said, the presentations were delivered by researchers, physicians, surgeons, clinicians & stakeholders from UCL GOSICH & globally who addressed Norrie disease with compassion, sensitivity, hope, honesty and unrivalled expertise as we work towards a cochlear gene therapy.
Our families felt connected and supported as they networked to the max reacquainting with old friends and making new ones. Our teenagers met each other, some of them for the first time - how amazing to realise they are not the only ones 
Our younger members enjoyed sensory musical activities in a sensory room with no limits! Families and individuals affected by Norrie disease and medical professionals mixed freely with each other outside the clinical environment and hospital appointments to get to know each other and learn more about each other's lives and to gain and share greater insight into the reality of living with Norrie disease.
