Georgina Coulson, who lives in Ashington, is among those helping charity Dravet Syndrome UK to spread the word by sharing the story of her son, John Joseph, who was diagnosed with the condition when he was just eight months.
He was first diagnosed after repeated prolonged seizures and ambulance dashes to hospital, where he ended up in intensive care seven times.
He has also suffered from development delay and behavioural issues. He cannot swallow, is fed by feeding tube into his stomach and has oxygen overnight.
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By raising awareness of the condition, Georgina wants to increase understanding of the huge impact that Dravet Syndrome has on the lives of families.
She said: “I first came across Dravet Syndrome on an American website while desperately Googling, and I just knew instantly that John Joseph had it.
“He was in intensive care, having been put into an induced coma, so I rushed back to intensive care at 3am and asked them to test him for Dravet Syndrome.
“They hadn’t even heard of it and tried to reassure me they didn’t think it was the case.
“We were sent home and I felt like my child was a ticking time bomb. I was terrified to be alone with him. I was so scared about the next seizure, but I knew it was coming.”
Although officially a ‘rare’ condition, occurring in around 1 in every 15,000 live births, Dravet Syndrome is one of the most common genetic epilepsies, as well as one of the most treatment-resistant.
In around 85 per cent of cases, it is caused by a mutation in a gene known as SCN1A.
Georgina added: “It took six weeks for the results to come through confirming it was Dravet Syndrome. I was absolutely devastated.
“I felt like his future had been robbed and I didn’t cope well for a long time.
“I’m backing the campaign to raise awareness because I don’t want other families to have the same experience we’ve had.
“I know it’s rare, but with a bit more knowledge there are signs of Dravet Syndrome that medics could spot.”