A single mother has vowed to give her 10-year-old daughter a "happy fulfilling life full of adventures and memories" after the child was diagnosed with an ultra-rare brain condition that leaves her with the mental age of a two-year-old.
Evie suffers from subependymal grey matter heterotopia, a severe disorder that stops her brain from developing normally and causes debilitating seizures that can last up to 24 hours. She is one of only 500 confirmed cases worldwide.
Long road to diagnosis
Doctors struggled for years to identify the cause of Evie's episodes and developmental delays before diagnosing her at age five. She has relied on heavy medication for most of her life.
Aimee James, 35, from Williton in Somerset, told the Mirror: "She was born quite early and she didn't grow very well. Evie was fine as far as they could see, but as soon as we got to the first milestones, like smiling, within four or five weeks she was behind."
"She couldn't sit up unaided until about 18 months, then she didn't walk until she was nearly two and a half - and she couldn't walk properly or bear her weight very well."
In 2021, when Evie turned five, an MRI scan at Musgrove searching for prenatal brain damage revealed an unexplained anomaly. When the scan was sent to Bristol, doctors examined her brain tissue structure more closely and diagnosed subependymal grey matter heterotopia, which occurs when abnormal clusters of tissue disrupt the brain's normal electrical pathways. The condition explained why her epileptic seizures had been resistant to medication.
Aimee recalled: "I had no clue when I first saw it on the bit of paper that I got sent, I thought what the hell is that? And then I googled it and I was like 'oh my god' - it's an absolute minefield."
Daily challenges and care
Evie now requires round-the-clock supervision and attends a specialist school equipped to support her severe learning delays and complex medical needs. In one harrowing incident, she had a "continual vacant seizure" lasting over 24 hours, during which she was completely unresponsive. She was rushed to hospital and given midazolam, a powerful sedative, to "break the circuit" and revive her.
Aimee accepts that Evie will never have a normal childhood like her siblings, Oscar, 16, Ruby, 14, and Rio, four. She said: "I always just wanted - not necessarily an answer - but to know what I was looking at. Am I going to be looking at a 20-year-old with a 12-year-old's brain, or am I going to be looking at a 20-year-old with a four-year-old's brain? There are big gaps, but the doctors just say they can't tell us - they just don't know."
"It is quite sad because she doesn't do what 10-year-olds do. She doesn't go to people's houses or to parties because she has to be really looked after. Sometimes when I think about it, it is sad, because you realise she is not going to get to experience those things."
"At the minute she's 10, but developmentally she is still between two and three. Now that she's getting older, I'm starting to understand what I'm probably going to be looking at - and she is always going to need care."
Looking ahead and fundraising
The family is heading back to Bristol next month for a brain surgery assessment to see if Evie can be fitted with a vagus nerve stimulation (VNS) device, described as "like a pacemaker but for the brain", which delivers short bursts of electricity to help stop seizures.
Aimee is also raising awareness for Roald Dahl's Marvellous Children's Charity, which has provided nursing support, helped with paperwork, and paid towards family trips, including a recent visit to Alton Towers. She and her friend Hannah Worth will run the London Marathon next April to raise funds for the charity.
Aimee, who runs 30-40k a week and goes to the gym two or three times a week, said: "We start a training plan at the beginning of January that we will stick to." She added: "I play for a ladies football team - Staplegrove Ladies - and we're doing some charity football matches and some tournament days with them too. I'm going to do it for Evie."
Sophie Fanning-Tichborne, Director of Fundraising and Communications at Roald Dahl's Marvellous Children's Charity, said: "We are thrilled to have 155 runners taking on the TCS 2027 Double London Marathon in support of Roald Dahl's Marvellous Children's Charity. Having Aimee tackle this incredible challenge in recognition of the support her family have received from their Roald Dahl Nurse makes it even more special. We are immensely grateful to Aimee and all our supporters who take on challenges like this. Their dedication helps us establish more Roald Dahl Nurses and support even more seriously ill children and families across the UK. We wish Aimee and all our runners the very best with their training and will be cheering them on!"
