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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
If you were asked “What has EpiCARE done for r(20) syndrome?” and whether Allison devoting significant time to EpiCARE adds value for you as members of Ring20 the charity, what would you say?
Here we explain the different parts of the chromosome, which can be important when trying to understand your test results...
Follow Zara and Otsi as they chat about what we DO know and what we DON'T yet know about r(20) syndrome and where we are heading...
