The parents of a three-year-old boy with a disease so rare it affects only 27 other people have recalled the terrifying moment they first knew something was wrong with their son.
The couple are reliving the ordeal in a bid to raise vital money to fund research into the mysterious condition affecting their son Angus – and only a handful of others.
Experts know nothing about his genetic problem, which causes constant seizures, speech and language problems, as well as movement problems.
Young people can also suffer from heart defects and, unfortunately, some of them do not survive.
And this week, his father, Oli Powell, 34, has embarked on a remarkable charity missionrunning seven grueling full marathons, each 26.2 miles long, in seven days.
It has already raised more than £30,000 for CRELD1 Warriors, which supports families and leads calls for better medical treatments.
Former Welsh guard Oli admits the challenge has pushed him physically to the limit; However, he insists it is nothing compared to the struggles that children affected by CRELD1, like Angus, and their families face every day.
Mum Sophie, 35, was at home when she noticed Angus, then six months old, “didn’t seem to be feeling well”.
Parents Sophie, pictured, and Oli Powell are reliving their ordeal in a bid to raise vital money to fund research into the mysterious condition affecting their son, Angus, and only a handful of others.
This week, his father Oli, 34, has embarked on a remarkable charitable mission, running seven grueling full marathons, each 26.2 miles long, in seven days.
It has already raised more than £30,000 for charity new warriors CRELD1, which provides advice and support to families, as well as leading calls for better medical treatments.
Thinking he was simply sick, she put him on the bed to give him Calpol, but within moments he began to suffer a terrifying seizure.
Sophie, fearing for her life, called an ambulance. “His eyes were rolling back in his head and his body was shaking. I honestly thought he was dying,” she admits.
Although he was kept in hospital overnight, he recovered quickly and, frustratingly, doctors were unable to offer any explanation as to why it had happened.
That was the beginning of a nearly two-year ordeal during which Angus suffered repeated seizures, some lasting hours, and had to be placed in an induced coma, with no tests able to reveal the cause.
Six months ago, the family finally received an answer: Angus has a condition called Cysteine Rich With EGF Like Domains 1, or CRELD1 for short.
It occurs in children when both parents pass on an increasingly rare defective gene and, unknowingly, Oli and Sophie carried it.
Fortunately, her youngest daughter, Lyla, 16 months, is not affected.
Sophie is pregnant and tests have revealed that, fortunately, the baby is also healthy.
Sophie said: “Before his first seizure there was no indication that Angus had a problem – he was a happy, healthy boy.”
Sophie was at home when she noticed that Angus, then six months old, “didn’t seem to be feeling well.”
During a two-year ordeal, Angus suffered repeated seizures, lasting a few hours, and had to be placed in an induced coma, with tests unable to reveal the cause.
A wide range of health problems linked to CRELD1 have been identified, including heart problems, delays in learning and development, as well as respiratory and immune system problems.
Sophie said: “Before his first seizure there was no indication that Angus had a problem – he was a happy, healthy boy.”
“That seizure lasted about five minutes, but it seemed like an eternity. Afterwards he got a little sleepy, but seemed to recover.
“Doctors kept him in overnight and suggested it might have simply been febrile seizures (mild seizures that babies often have in reaction to fever).”
But over the next few months, he was in and out of the hospital, suffering from severe colds that led to new seizures that were increasingly worse and longer.
“They still couldn’t tell us why it was happening,” Sophie said. “The doctors kept saying I could get over it with time.”
All tests came back normal and the couple were offered genetic testing, but once again, the results came up empty.
Last On Christmas Eve, Angus suffered a seizure that lasted for hours; It was so serious that the doctors decided to put him in an induced coma. This is to protect the brain when all other treatments have failed.
Oli said: ‘CRELD1 Warriors is so important – talking to other families who faced what we were going through. I wanted to give something back and that’s why I run these marathons.
He succeeded and six months ago he received a call from the John Radcliffe Hospital in Oxford with an answer.
“From our blood samples they eventually found out he had something called CRELD1 – the doctor said there was only one medical paper written about it so far, so they weren’t sure how it would affect him or what would happen,” Sophie said. .
The couple contacted CRELD1 Warriors, a support group for families affected by the condition.
“We’ve calculated that he’s probably the 28th person to be diagnosed,” Sophie said. ‘We also realized we were lucky as Angus is only mildly affected.
‘Other children have multiple seizures a day, or seizures that last up to seven hours.
‘The daughter of the couple who founded CRELD1 Warriors sadly died from a stroke.
‘Still, it’s terrifying not knowing how it will manifest in Angus.
“We would love to see more research to find out exactly what is happening and find a treatment, because at the moment there is nothing.”
Despite his challenges, Angus is a normal boy in many ways, Sophie says. ‘He goes to nursery and loves animals and runs outside.
Despite his challenges, Angus is a normal child in many ways, Sophie says: “He goes to nursery and loves animals and running around outdoors.”
‘Communication can be difficult because you have very little language, but you can communicate if you are thirsty or hot, or if you need something.
“Take three types of epilepsy medications every day, at the maximum dose.”
Oli, who now works as a renewable energy expert, said: “It was very important to get in touch with CRELD1 Warriors – to talk to other families who faced what we were going through.”
“I wanted to give something back and that’s why I run these marathons.”
To sponsor Oli’s seven marathons in seven days mission, visit the couple’s home just giving page.
He added: “Seven marathons in seven days seemed like a good idea, and I had done seven half marathons and that was a piece of cake, so I thought it would be fine, but I feel like I underestimated how hard it would be.”
His routes begin and begin at the family home in Chaddleworth, Berkshire and he has been buoyed by the support of army colleagues, friends, family and others from the CHELD1 Warrior community who have joined him on his runs.
“It’s been very difficult,” Oli said, “but I’m going to finish it.”