Angus Powell, 3, from Chaddleworth, Berkshire, has been suffering from terrifying seizures since he was six months old. Despite numerous tests, doctors haven't been able to diagnose the cause of the seizures, which leave Angus's limbs twitching, eyes rolling back, and lips turning blue. His parents, Oliver and Sophie, are desperate for answers and fear he may become one of the 6,000 children diagnosed with a 'syndrome without a name' (SWAN) each year.
The photographs of Angus Powell when he was just six months old are joyful. His bright blue eyes, framed with long lashes, are full of curiosity and laughter.
They became progressively longer and more severe until, over Christmas last year, one set of prolonged convulsions led doctors to put the toddler into a medically induced coma for a couple of days to get them under control. It's not a diagnosis, but an umbrella term for illnesses believed to be genetic in origin but so rare doctors can't pinpoint the precise cause.In Angus's case it was only because of the dogged determination of geneticists at John Radcliffe Hospital in Oxford that, in July, his illness was finally given a name.
To that end, Oli, 34, recently ran seven marathons in seven days for the charity Creld1 Warriors, raising more than £50,000 towards much-needed research into the condition. These drugs cost upward of £1 million a dose – but just one dose is needed. And although it is early days, they appear to offer a cure.
'They are in a far worse situation, in that they don't have a diagnosis, or their child is suffering from far more severe symptoms. 'Doctors always reassured us he was fine,' says Sophie. 'But when he was nine months old, and he had his first 45-minute seizure, they started thinking there was something more serious going on.'
They also wanted to rule out a genetic cause, taking blood from Angus and his parents for an analysis of their DNA. But the CRELD1 mutation was so new it was not yet in the 'panel' of faulty genes that scientists test for. 'He had been crawling and walking as expected, but he wasn't communicating. He wouldn't understand simple things and would just blabber in his own way.Angus had his worst seizure just before Christmas last year. 'It was the last very bad one,' Sophie recalls. 'The doctors put him into a coma because he couldn't stop fitting. It was extremely scary. It was for a couple of days and we got out on Christmas Eve.
'I never thought I would come to any kind of acceptance about it. Every time I mentioned it, I'd just burst into tears.' 'We'd been told Lola had a SWAN condition, and it was only when Adam posted a video online of her having a seizure that a woman in Canada said her symptoms sounded exactly like her daughter's, who had passed away with a CRELD1 mutation,' says Jessica. 'We asked our geneticist to test for it, but they refused as they couldn't find information about it.
Dr Lucy Hanington, a geneticist at the Oxford Centre for Genomic Medicine, says: 'There are likely to be more children and adults living with what they think is epilepsy or developmental delay when it could be a CRELD1-related disorder.' 'Angus is a happy little boy who loves running around outside and is always getting up to mischief,' says Sophie. 'But his delayed development and lack of speech and communication can be challenging. And we don't know how his condition will manifest as he gets older, which is scary.'
Seizures Rare Disease SWAN Syndrome Diagnosis Medical Mystery
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