As a carer of a son diagnosed with ring 20 syndrome, Allison Watson increasingly felt the need for a patient group that would provide support and advice to help families and patients cope with the condition. Ring chromosome 20 syndrome is a rare chromosome abnormality, typically characterised by recurrent seizures or epilepsy, intellectual disability and behavioural difficulties.
This condition is caused due to the fusion of the two arms of chromosome 20 resulting in the formation of a ring chromosome. Currently, there is no recommended treatment or cure, therefore awareness and patient support can prove to be invaluable in the management of symptoms and improving the quality of life.
With the help of a colleague, Allison set up the Ring20 Research and Support UK CIO to represent those with Ring Chromosome 20 Syndrome. The primary motive was, as she puts it, “to pull together and signpost families, patients and health professionals to the latest information on r(20) through a ‘one-stop shop’; to provide a support service to both newly diagnosed and families with existing r(20) family members; to be able to engage in and help fund important research into this rare disease.”
But as a fledgling patient group, there were several challenges ahead of them. This is where, Allison says, Beacon workshops helped them to come up with a strategic plan to target the key areas, from securing grants and creating management structure to developing communication/PR strategy and running workshops/conferences.
After having attended a number of Beacon workshops on various topics, from Trustees to clinical research studies, I was lucky to be a mentee on the inaugural mentoring programme in my 1st full year in post as Secretary for my charity.
The programme enabled us to submit our first (and successful!) grant application for funding – allowing us to acquire the necessary funding to attend events and host a charity stand; informed us of key conferences/events in the rare disease world that were pertinent to attend, recommended social media best practice (we now have a dedicated social media volunteer) and enabled first-hand experience of running a families conference. My mentor had a number of years of experience in her field and that was contributory to the support and advice she was able to provide in so many different areas.
Beacon provides a unique service to rare disease patient support groups such as ours, offering free workshops on topics that are pertinent to the majority. These events allow sharing of information amongst groups to inform best practices in a way that is cost-effective to all.
Whilst the conditions we support are all different, the challenges we face, the bureaucracy we have to navigate and the need to support families, patients and health professionals are all common themes. Beacon events and information provision help us to meet these needs, better informed and stronger together.