Norrie Disease is a rare genetic condition causing blindness/severe visual impairment from birth, as well as many secondary conditions including progressive hearing loss. It affects mainly boys. NDF is in contact with 40 Norrie families in the UK.
- typically leads to blindness at birth or severe sight impairment
- secondary symptom is progressive hearing loss
- approximately 30-50% of boys with Norrie disease have developmental delay, learning
disability or behavioural issues
- also associated with short stature, delayed or arrested puberty, and sexual dysfunction
During and after diagnosis, families will see a huge array of professionals. Patients told Rare Disease UK that one of the hardest things about having a rare condition is that often their doctor may not have much information about the condition.
Many families want information about how Norrie Disease will affect them in the future, what treatments are available, and information and support on how best to live with and manage their symptoms. We are working with the charity Unique to develop a plain language information sheet for families.
In 2015 Professor Maria Bitner-Bitner-Glindzicz met a set of parents at a UCL Reception after an evening research seminar. Maria was a geneticist with a specialist interest in childhood deafness. The parents had a young boy with Norrie disease. Maria was aware of Norrie disease but hadn’t met anyone with the condition. She listened to the parents as they shared their experience of living with Norrie disease and their concerns about their son losing his hearing as well as being blind. Maria said she couldn’t imagine the loneliness and isolation of living with a condition when you haven’t met other parents who are in the same position and expressed sympathy and compassion over the prospect of a blindness condition progressing to dual sensory loss with the progressive hearing loss and how devastating that is for families. The parents asked Maria if she could help with saving the progressive hearing loss that affected the blind community and she replied ‘I’d like to help, but I’m not quite sure how to. Let me think’. Maria was the first researcher in the UK to say that she wanted to help with the Norrie hearing loss.
In early 2016 after much thought and investigation Professor Maria Bitner-Glindzicz said she felt she would be able to help research into the Norrie hearing loss and that she wanted to help set up a support group in the UK dedicated to helping provide information and support to families in the UK living with Norrie disease.
During 2016 and onwards Maria went out of her way to help a group of 3 parents set up a support group; she connected the group to contacts in the medical world and the rare disease community, answered queries, and solved problems and found solutions to the multiple hurdles that kept emerging. When confidence wavered and things seemed less than achievable Maria would come forward with help and support and encouragement. Maria would email well into the late evening, join phone calls, set up meetings, look at materials that we were producing, helped with funding applications, everything – Maria helped at every level. It was very clear that more than just wanting to find a treatment for the hearing loss, Maria wanted to learn more and understand how to support the Norrie community. Maria said ‘it must be so difficult when you realise after the birth of your child that you’re not in the same boat as your friends’.
Why is the NDF so important to the families affected by Norrie Disease? Our ambassador Simon Reeve explains:
“Meeting Josh through The Big Life Fix drove home how difficult life is for children affected
by Norrie disease. There are huge obstacles in the way of many of those everyday things we
take for granted for our children. Having an organisation like the NDF to raise awareness of
these challenges and to provide vital support can make all the difference to the children and
Professor Maria Bitner-Glindzicz helped organise the launch of the Norrie Disease Foundation which took place in May 2017 and was held at University College London Great Ormond street Institute of Child Health. The launch was attended by families from across the UK and the NDF Medical Advisory Board. Maria opened the event with a speech about the importance of bringing families affected by a rare disease together so that they could hear and share experiences and offer support to each other. Maria was a huge driving force behind bringing medical professionals out of their clinical settings to meet Norrie families as she felt families would gain so much from being able to share their experiences and concerns in confidence and in a more neutral setting. She spoke about her hopes for finding a cure for the hearing loss. The launch lasted for 3 hours and Maria spent most of that time speaking with families, keen to learn about what really mattered to them and what would help them and how she could help them.