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Rachel A’s story
Our journey with Ring Chromosome 20 Syndrome [r(20)] proved to be challenging and impossible to live with. Rachel lost her life to epilepsy just 2
Ring Chromosome 20 Syndrome
Ring Chromosome 20 Syndrome or r(20) syndrome, is an ultra-rare disease the main symptoms being difficult to treat epilepsy, cognitive decline and behaviour disorder.
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Sebastian’s story
Sebastian Burckle (21) died unexpectedly in September, 2023 whilst on holiday in Mexico. Sebastian lived with Ring Chromosome 20 Syndrome, an ultra-rare genetic condition, its
Ella’s story – a friend’s perspective
To every relative, friend and professional… I write this with the hope of bringing change for anyone who knows any child or adult with a
Latest News and Research
NEW!! We are excited to present two new information leaflets, one for parent/carers and one specifically for healthcare professionals:
