A 10-year-old girl with a rare brain condition could die in her sleep, her mother has been warned. Evie James, from Williton in Somerset, has subependymal grey matter heterotopia, a disorder that causes debilitating seizures which can last for up to 24 hours at a time.
Evie's mother, Aimee James, 35, said her fourth child did not grow properly in pregnancy. Doctors believed Evie was fine when she was born, but Aimee grew increasingly worried when she noticed Evie was not smiling and talking like other children her age.
Delayed development and diagnosis
Speaking to the ECHO, Aimee said: "She didn't grow properly in pregnancy. Then when she was born, they said she was okay.
"But by the time she was about five, six weeks, when babies start smiling, she didn't do any of that. I didn't think too much of it to begin with.
"Then she wasn't doing anything that she was meant to be doing, like laughing, babbling and sitting up on her own. I was speaking to the health visitor and I was like, 'I'm not too concerned but she's seems to be a bit behind'. She was referred to a pediatrician. By the time they'd seen her, she was one and she still wasn't walking."
Evie was diagnosed with epilepsy. In 2021, when Evie turned five, an MRI scan searching for prenatal brain damage turned up an unexplained anomaly.
Rare condition and risks
The family were then told Evie had subependymal grey matter heterotopia, which occurs when abnormal clusters of tissue (grey matter nodules) disrupt the brain's normal electrical pathways. It explained why her epileptic seizures had been resistant to medication.
Evie is one of only 500 confirmed cases of the condition in the world. Since then, she has also been diagnosed with autism and cerebral palsy. She also experiences issues like sensory processing and has been told she could die in her sleep due to her illnesses.
All of this has been massive for the family, including Aimee, dad Adrian Shopland and Evie's siblings - Oscar, 16, Ruby, 14, and youngest daughter Rio, four.
Uncertain future and fundraising
Aimee said: "She struggles day to day. We've been in and out of hospital for two or three years because, with this condition, she has medication resistant epilepsy.
"She's on a lot of medication just to keep her just to try and keep her quality of life to a decent standard, because she gets really unwell and has lots of seizures, lots of different seizures. They affect her cognitive impairment.
"She's at high risk of sudden death in her sleep. (Doctors) say, in the second decade of life, there's a chance it can get really quite bad. She's just hit 10, which is why we are in and out of hospital at the moment with brain assessments for surgery and things like that.
"The last alternative is brain surgery because they need to be able to give you a better prognosis really. Obviously (doctors) can't tell me anything at the moment.
"They can't tell me if she's going to get to 14. They don't know if she's going to be 20 with the brain age of a three year-old or if she's going to be 20 with the brain age of a 10 year-old. They can't give me any answers."
Aimee and her friend Hannah Worth will be running the TCS London Marathon next year for Roald Dahl's Marvellous Children's Charity, which supports seriously ill children such as Evie and their families through specialist nurses and vital care.
Although the family are from Williton, Aimee is appealing to Scousers for support. The family are all Liverpool supporters and often travel up to Anfield for home games. Aimee said: "Me and my friend are doing the London Marathon next year for a charity that looks after Evie.
"We're doing lots of fundraising obviously locally because of it. At our local social club I play football, so we're doing some charity matches. (Adrian) has been a massive Liverpool fan all his life. Him and the kids are always going up (to Anfield) to watch the matches.
"Evie doesn't know that there's anything wrong with her. Her mentality is like a little toddler, so she doesn't understand that she's different or she's not doing things that other children her age are doing. We just have to take it day by day and do what we can to just make memories with her really."
