Mum's vow for daughter who has rare 'only 500 in the world' condition

Mum's vow for daughter who has rare 'only 500 in the world' condition EXCLUSIVE: Mum-of-four Aimee James says she wants to give her 10-year-old daughter Evie a 'happy fulfilling life full of adventures and memories' after she was diagnosed with an ultra-rare brain condition A single mum has told how she is determined to give her 10-year-old daughter a 'fulfilling life' after an ultra-rare condition left her with the mental age of a two-year-old. Evie suffers from subependymal grey matter heterotopia, a severe disorder that prevents her brain from developing normally and causes debilitating seizures that can last for up to 24 hours at a time. Evie is one of only 500 confirmed cases of the condition in the world. Doctors had struggled to identify the cause of her episodes and developmental issues for years before she was diagnosed at age five, and she has relied on heavy medication for most of her life. Mum-of-four Aimee James is currently preparing to go back to hospital next month to see if it Evie can be fitted with a VNS device - which is "like a pacemaker but for the brain" - in hopes of controlling the seizures and improving her quality of life. The first signs that Evie was different appeared at just a few days old, but it took years, and many scans, for doctors to find out exactly what was behind her health problems and developmental delays. Aimee, 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 turned up an unexplained anomaly - and when it was sent to Bristol, doctors took a closer look at how her brain tissue was structured. The family were then told she 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. "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 I googled it and I was like 'oh my god' - it's an absolute minefield", she recalled. Because of her condition, Evie, now aged 10, requires around-the-clock supervision and attends a specialist school, which is equipped to support both her severe learning delays and her complex medical needs. The mum recalled one harrowing incident where Evie had a "continual vacant seizure" that lasted for 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 has said she accepts her daughter will never be able to have a normal childhood like her siblings, Oscar, 16, Ruby, 14, and youngest daughter Rio, four - but said she is determined to give her a "happy fulfilling life full of adventures and memories". 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. "We've just come back from Disneyland Paris with her school, and it was nice to take her to something. As much as she didn't really know what was going on around her and wanted to be in her buggy a lot of the time, when she did come out, she really, really enjoyed it. It's just the fact that I get to experience things like that with her, so I have the memories and the pictures." The family is heading back to Bristol next month for a brain surgery assessment to see if they can move forward with fitting a vagus nerve stimulation (VNS) device, which can help stop seizures by delivering short bursts of electricity. Aimee is also raising awareness for Roald Dahl's Marvellous Children's Charity, who have given the family nursing support, helped with paperwork, and paid towards family trips, such as a recent visit to Alton Towers. The mum and her close pal Hannah Worth will be running the London Marathon next April to raise funds for the charity. Though she has taken part in sponsored runs and challenges in the past, Aimee has never run the full 26 miles - but with Evie in mind, she is confident she will see the finish line. Aimee explained: "I do about between 30 and 40k a week anyway running... And then I go to the gym two or three times a week. "We start a training plan at the beginning of January that we will stick to." "The charities I've run for before were for a friend who had cancer. She passed away last year after going into cardiac arrest from a medication side effect, which is why we fundraised for the Air Ambulance. "When I was doing the Race for Life for her, I told her that I wanted to do a full marathon in the next couple of years, but that I was going to do it for Evie. She was amazing and such a massive help to me. She told me, 'Yes, you need to do it, I'll support you.' "But after I completed the National Three Peaks for the Air Ambulance last summer, my mind was firmly made up that I was going to run a marathon for a charity that helps Evie. "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!".