Ring20 Research and Support UK CIO is a small charitable organisation, operating from the UK to support those suffering from, or affected by Ring Chromosome 20 Syndrome.
R(20) is a very rare epilepsy syndrome, resulting in intractable epilepsy with ~150 cases reported worldwide in literature, though it is believed to be under-diagnosed. Families can feel isolated and many welcome the opportunity to speak with others in the same situation, wherever in the world, in whatever language. Our aim is to provide a support group network in order to facilitate communications between those families
R(20) can be present in mosaic or non-mosaic form, with non-mosaic patients appearing to be more severly affected by the disease. Though a genetic condition, age of onset of seizures is varied amongst patients.
There is no specific treatment that appears to be successful in controlling seizures; families are keen to be aware of and/or partake or help fund research projects into r(20).