A world without sight or sound is, for many of us, unimaginable. But for the estimated 40 Britons and 500 people worldwide who are living with Norrie Disease, this is their reality.
“A rare genetic condition causing blindness/severe visual impairment with secondary conditions including hearing loss”, the effects of Norrie disease are life-defining. Seeking to provide crucial insight into the condition and support for those affected, the Norrie Disease Foundation (NDF) was set up in 2017.
Professor Maria Bitner-Glindzicz, a professor of human and molecular genetics at UCL and groundbreaking researcher into Norrie Disease, was instrumental in the founding and funding of the NDF. Wendy Horrobin, co-founder and current chair and coordinator of NDF, described Maria as “the wind behind our sails”; “the first person that listened globally, [the] first researcher with irreplaceable skills”. Playing a crucial role within the community, Maria’s sudden death in 2018 following a bicycle accident was devastating on both a communal and personal level.
Two years later, Maria’s daughter, Helena, ran the 2021 London Marathon in support of her mother and the foundation’s vital research and community. When asked about the impact she has had on the foundation in the wake of her mother’s passing, Wendy said “Just like Maria, I’ve never met anyone like Helena”, describing the relationship she has with the NDF as “deep and meaningful”. With kind reciprocity, Helena returned the compliment saying Wendy has “taken the NDF from strength to strength since she set it up”.
Helena’s fundraising, which has reached over £8,000, exemplifies the strength in solidarity and determination, even within a relatively small community, and in the face of deep tragedy. When asked what she hoped the foundation would further achieve, Helena responded: “I hope they manage to continue bringing people affected by Norrie disease together - this is a small but powerful community and mum had always said that bringing affected families together… was the most important thing.”
Fighting to continue bringing much-needed awareness to and research about the disease, in the hopes that research may find ways to prevent secondary conditions including hearing loss, the NDF are working alongside their medical advisory board.
Their website fosters a similar sense of resilience and reassurance, offering a voice and community-space for those living with Norrie disease and their families: “The Norrie community is growing, it is strong, and keen to support, hear and share experiences”. As such, the NDF’s vision and Helena’s commitment express the power of collaboration and support that is, in many aspects of life, much needed.
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For more information about Norrie Disease and the NDF’s important work:
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