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Promoting research, education and continuous support to end undiagnosed and misdiagnosed
Ring20
epilepsy

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.

Your Stories

Jaevin’s Story

Jaevin’s epilepsy has gotten worse over the years. He has been induced in several comas every year since 2015 n the ICU for status epilepticus for several days at a time until the neuro team found a concoction of medication that would calm his seizures down.

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Diana Wagner

Diana’s Story

It just didn’t make sense, the constant tiredness, being lost in school, the pauses when she talked. I had never seen anything like that.

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Latest News and Research

Using genomic sequencing techniques is a new way of looking at r(20) that hasn't been done before...
A simple video explaining your genome. Thanks to Great Ormond Street Hospital charity for allowing us to share.
What's the difference between genetics and genomics?