Advice for creating a definitive source of information about a syndrome and the opportunity to be involved in Jeans For Genes Day were just some of the results of the latest event we attended. Aniridia Network (ANUK) Trustee James was among 100 delegates at the Genetic Disorders Leadership Symposium earlier this month. Our chair Katie has previously been to the annual, free, day-long event by Genetic Disorders UK.
Presentations by staff at Ataxia UK and Max Appeal described how they had brought together many types of experts and patients over several months to create ‘consensus documents’ on how to deal with their conditions. These include grades for each piece of guidance on the evidence-based confidence there is in it. Max Appeal has also attained the NHS Information Standard of quality and used company Guidelines to distribute a summary version for GPs.
The leader of XLP Research Trust spoke about how he has created a worldwide community and research hub in 14 languages about the ultra-rare condition. Key to this was a bi-annual symposium and speakers dinner. At least 14 months notice plus a time and place that aligns with similar events is needed to secure a slot in expert doctors diaries.
Another speaker described how their week long events include clinics as well as meetings for scientists and patients. It was often said how vital it is to get a great medical champion as well spot and nurture aspiring researchers
James said “I really want to create a free online, knowledge base about aniridia through international collaboration. So I was very interested in these sessions. I took the opportunity to discuss the details with the speakers in person afterwards, to learn from their experience and be able to contact them for advice in the future.
Towards the end of the day the Chief Executive of Genetic Disorders UK announced two initiatives that could aid ANUK. September is to become Genetic Disorder Awareness Month. The highlight will be the existing Jeans For Genes Day, which will change to enable charities like ours to share half the donations revenue if we help find new fundraisers to run events.
There were lots of other engaging and useful presentations from the stage: “It was fantastic to meet comrades from similar organisation to compare notes on our approaches and ideas on common issues” said James. “I was most struck by how much had been achieved by organisations concerned with conditions rarer than aniridia and therefore smaller pools of volunteers and donors. I hope my colleagues and ANUK all members, will like me, learn from and be inspired by them.”