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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
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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
Like most people I wanted to volunteer because of a desire to give back to the community and do something for the greater good.
Research has shown that patients and carers who live with a rare disease experience a negative impact on wellbeing and mental health.
