They are telling Angus’s story in the hope they can raise awareness not just of CRELD1, but of the families still in the dark about what’s wrong with their children.
And it’s a label that leaves families in a traumatic limbo – without any hope of treatment or cure.
‘I never thought I would come to any kind of acceptance about it. Every time I mentioned it, I’d just burst into tears.’
But despite scans and genetic tests, doctors had no idea what was wrong.
Paramedics said it was likely a febrile convulsion – a seizure which can happen when a child has a high temperature. But over the next three months, Angus had repeated throat and chest infections which triggered seizures.
Angus’s parents are telling his story in the hope they can raise awareness not just of CRELD1, but of the families still in the dark about what’s wrong with their children
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.
‘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.
‘The science is evolving so rapidly,’ says Sophie, 35, a former teacher. ‘At the moment we don’t even have an effective treatment, but there may be a way with gene therapy. The hope could one day be a cure.
‘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.’
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.
Oli, far left, recently ran seven marathons in seven days for the charity Creld1 Warriors, raising more than £50,000 towards much-needed research into the condition
Earlier this year the NHS approved Casgevy, a treatment for life-limiting genetic blood disorders once considered hopeless – sickle cell disease and beta thalassaemia. A similar gene therapy, Hemgenix, is offered to patients with the blood clotting disorder haemophilia.
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.
Donate to Oli and Sophie’s fundraiser for Creld1 Warriors – visit justgiving.com and search CRELD1. More information at creld1.com
DNA editing at £1m a dose
FOR those with serious genetic illnesses there was once little hope.
An MRI scan and an EEG – a recording of brain activity – came back normal. Doctors considered he had a form of epilepsy and put him on drugs to control his seizures, with varying success.
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.’
Despite this, for many they hold the only hope for recovery, and more than 150 trials are currently using the technology to treat conditions ranging from hereditary heart disease to eye deterioration.
‘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.’
The disorder it causes has now been named: Jeffries-Lakhani Neurodevelopmental Syndrome, or JELANS. Symptoms include seizures, heart and musculoskeletal issues, a weakened immune system, problems with vision and hearing, as well as cognitive delays and developmental issues.
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.
IT’S A FACT
We carry roughly 20,000 genes in each cell in the body – but all it takes to cause an illness or condition is a change to just one of them.
There was a chance Angus might become one of about 6,000 sick children every year who are told they have a SWAN condition – ‘syndrome without a name’.
‘We know how fortunate we are with Gus that we’ve been able to get a diagnosis. But there are other families still struggling and in the dark.
Angus was around six months old when he suffered the first of what would become a seemingly endless string of terrifying seizures
The funds from Oli’s marathons will help pay for a researcher, Birmingham University neuroscientist Dr Felix Chan, to investigate the condition.
‘I laid him down on the bed to give him some Calpol and he started twitching,’ recalls Sophie.
Using a breakthrough technique, a harmless virus can be programmed to seek out the faulty DNA strands and deliver the CRISPR medication.
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.
One positive postscript of Angus’ diagnosis is that Sophie, five months pregnant with the couple’s third child, was able to have her baby tested in the womb for JELANS.
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.
Called clustered regularly interspaced short palindromic repeats, or CRISPR for short, they can correct minute errors in DNA, effectively offering a cure for genetic problems in a single dose.
‘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.
