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On November 9th 2019 over 60 people gathered at Moorfields Eye Hospital NHS Foundation Trust for the Choroideremia Research Foundations (CRF) Regional Family Meeting, thought to be the largest gathering of people with Choroideremia (CHM) in the UK, ever!
The day got off to a lively start with the director of patient engagement for the CRF Cory Macdonald and CRF board member Jason McKinney warmly welcoming everyone to the day and the CHM family. They shared the history of the foundation, what they have achieved to date and discussed why building a patient community is very powerful and of huge importance.
Dr Mariya Moosajee from UCL Institute of Ophthalmology and Moorfields Eye Hospital gave a very clear explanation of choroideremia symptoms and how the condition progresses. She explained how the genetic condition is passed down, encouraged everyone to have genetic testing and gave some useful advice to help limit additional damage to the retina. She also described some of the research that is happening for the condition.
Professor Andrew Webster who is currently leading the MyEyesite project, spoke about how vital patient data is. The project hopes to enable people with rare eye diseases to collect, manage and share their own health data. The team at MyEyesite believes this will lead to better health outcomes, more efficient health services and to accelerated scientific research.
Dr Michael Crossland a specialist optometrist led a discussion around technology for low vision and the group had a lively discussion sharing their favourite apps and experiences of using different gadgets with each other.
Emma Salisbury carrier mum and Founder of the Tommy Salisbury fund with Fight for Sight, spoke about receiving the life-changing news that her son Tommy may one day lose his sight from choroideremia. The talk from Emma was inspirational; after receiving the diagnosis she explained how meeting a researcher had given them hope. Encouraged, the family to set up the fund and with the help of family friends, colleagues and other families affected by choroideremia, they have raised more than £600,000 for research into the condition. The money raised by the Salisburys led to the world’s first clinical trial of gene therapy for choroideremia.
The event ended with an update from Dr Jasmina Kapetanovic who is on the team behind the trial. She spoke about the latest research results and showed us this video featuring her work made by Fight for Sight.
The day came to a close with the wonderful MCs Cory and Jason encouraging everyone to become a member of the CRF (it’s free!) and encouraging everyone to join the CHM registry.
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