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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.
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
Jessica’s Story
Ketogenic diet is having a huge impact on Jessica’s quality of life. We can’t emphasise enough that we have our little girl back, her energy levels have returned, she is much brighter and alert and is back to being the active little girl she was, playing with her football team and attending her dance classes once again.
Kieran’s Story
The conclusion was that he had epilepsy but without any known cause which is the case in about half of people diagnosed with epilepsy.
Latest News and Research
Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.
At Ring20, it has come to our attention that some individuals diagnosed with r(20) syndrome are not being offered the COVID-19 vaccine as part of priority group 6 within the UK. This appears to be due to GP's not classifying the individual as having epilepsy on their medical records - even though the individual has an r(20) diagnosis and is regularly prescribed anti-seizure medications (ASM's).
