Here several of our member families share their personal stories of what its like living with r(20) syndrome.
Our gorgeous, perfect baby boy was born on 9th February 2009 weighing 6lb13.5 with no complications, no health issues or concerns, all was going very well with James reaching all his milestones and walking at the age of 9 months.
At around the age of 15 months James was having a few sleeping problems. He would wake through the night having screaming episodes, which were quite frightening for us to experience and not know what to do as he still appeared to be sleeping.
I was a healthy straight A sporty kid until I turned 11 years old. Out of nowhere I was having strange episodes that my parents didn’t understand and my dance teacher told my mother to take me to the doctor, they look like seizures. When they did it was an immediate diagnosis of epilepsy. Over the years I have had to give up everything I loved, doing sports, dance, and my grades dropped due to the intellectual difficulties, memory loss and over all emotional impact it made to my self confidence.
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.
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.