Genetic Alliance UK – UK Rare Diseases Framework Consultation
Join us on Thursday, 11th June 2026 from 12 noon to 2 p.m. to help Genetic Alliance develop practical and realistic policies for Rare Diseases to feedback to the UK Government. We want to ensure that the voices of the Ciliopathy community are heard so would welcome, people with lived experience, support groups, researchers and clinicians to join us for this important workshop.
Register here for the meeting
Our trustee, Fiona Copeland, recently met Adrian at a fundraising event for Retina UK. He shared with her his Retinitis Pigmentosa (RP) diagnosis and how it affects him every day. He is keen to share his story to help raise awareness of RP and to help demonstrate why it is so important that we continue to advocate for research into this condition. If you would like to share your story then please contact us.
The Long Road After Diagnosis
By Adrian Madzura
After being diagnosed with retinitis pigmentosa, a degenerative eye condition, one man’s life was turned upside down. Independence and certainty disappeared almost overnight. What followed was a difficult journey through fear and financial hardship but also the discovery of art, support and a new sense of purpose.
“It takes time to accept the situation you’re in… And to learn to love yourself all over again.”
Before his diagnosis, Adrian Paternoster’s life followed a familiar rhythm. He worked full-time, travelled to work each day and built a steady life with his wife, Louise. The couple had moved from High Wycombe to Aylesbury, settling into what felt like a normal routine. Work was physical and demanding, but it was also stable.
Then small things began to go wrong.
Our next AGM will be held online on Friday, 2nd October 2026 from 14:30 to 16:00 (GMT) with guest speaker Professor John Sayer talking about the latest innovations in renal ciliopathy research.
Agenda:-
- Apologies for absence.
- To approve the minutes of the 14th Annual General Meeting held on 21st October 2025.
- To receive the Board’s Accounts for the period 1 April 2025 to 31 March 2026
- Chair’s Annual Report.
- Approve any new members and trustees.
An opportunity to ask any questions will be available at the end of the meeting.
Members are able to vote on proceedings. Non-members also welcome.
If you would like to join us then please register here.