Living with r(20) Syndrome

Here several of our member families share their personal stories of what its like living with r(20) syndrome.

Karen’s Story – from US to Japan to achieve a diagnosis

Karen with her little brother

Karen started having complex partial complex seizures and atypical absence seizures since around May of 2012 when she was 8 years old. Her seizures used to last 20 to 40 minutes long. Very quiet since she becomes unresponsive. But it took while for her to get a right diagnosis as r(20). We have tried more than 10 different kinds of anti-seizure medications with 3 neurologists/epileptologists, but couldn’t control her seizures.

Read Karen’s story in full…



Ella’s Story – 80 seizures a day and a 3-month stay in hospital


Three night time seizures and being bitten on my face is a far cry from Ella’s former self!

January 2013 marks the start of Ella’s traumatic journey, stay at Alder Hey Children’s Hospital and Ella’s subsequent r(20) diagnosis stay and we would like to share Ella’s story of fight and determination with you.

Read Ella’s story in full…