To provide support for individuals, families and healthcare professionals who are affected by, or who come into contact with Ring Chromosome 20 Syndrome or r(20) – a rare epilepsy syndrome – and to continuously foster interest and promote opportunities for research to improve understanding and outcomes for all those impacted.
Ring20 Research and Support UK CIO was established as a charity in 2014. Based in Essex, we operate throughout the UK having established a membership support network connecting families living with r(20) syndrome worldwide.
Our Key Objectives
As an ultra-rare disease there is very limited information available for all stakeholders regarding r(20) syndrome – there is no recommended treatment, no patient registry or natural history for prognostics, limited research and no clinical trials.
The families of a person receiving an r(20) diagnosis not only have to contend with the physical demands managing the unpredictable seizures, behaviour and/cognitive impact, they also have to contend with the emotional impact of feeling isolated without answers about the person’s care or future needs.
As such, people living with r(20) syndrome are largely unseen and unheard.
We aim to change this situation by raising awareness of r(20) at conferences and events and by working with collaborative partners to produce educational materials that will help everyone better understand this condition.
We will promote opportunities for vital research into this under-researched rare disease, which may lead to improved quality of life and improved outcomes for all those living with r(20) syndrome.
But first and foremost we are here to support our r(20) families, because medical advancement takes time but together we can support each other and learn to cope with living with r(20) syndrome, every day of our lives.