Our son was a happy, healthy baby – at just six months there was a shocking change… it took TWO YEARS to find the cause

The parents of a three-year-old child with a disease so rare it affects only 27 others have recalled the terrifying moment they first knew something was wrong with their son.

The couple relive the ordeal in a bid to raise vital money to fund research into the mysterious condition affecting their young son Angus, and only a handful of others.

Experts are largely in the dark about his genetic problem, which causes constant seizures, speech and language problems and movement problems.

Young people can also develop heart defects – and some who are affected unfortunately do not survive.

And so dad Oli Powell, 34, started something remarkable this week charity missionin which he ran seven grueling marathons of 42.2 kilometers each in seven days.

He has already raised more than £30,000 for CRELD1 Warriors, which provides support to families and leads the call for better medical treatment.

Former Welsh Guardsman Oli admits the challenge has pushed him to his physical limits, but he insists it is nothing compared to the struggles 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, was ‘not feeling well’.

Thinking he just wasn’t sick, she put him to bed to give him Calpol, but within moments he had a terrifying seizure.

Sophie, fearing for his life, called an ambulance. ‘His eyes rolled back and his body shook. I really thought he was dying,” she admits.

Although he was kept in hospital overnight, he recovered quickly – and, frustratingly, doctors were unable to provide an explanation as to why this had happened.

That was the start of a nearly two-year ordeal in which Angus suffered repeated seizures for several hours and had to be put into an induced coma – with tests failing to reveal the cause.

Six months ago, the family finally got 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 a vanishingly rare defective gene – and, unknowingly, Oli and Sophie carried it.

Fortunately, their youngest daughter Lyla, who is 16 months old, is unaffected.

Sophie is pregnant and tests have shown that the baby is fortunately healthy.

A wide range of health problems have been identified associated with CRELD1, including heart problems, learning and developmental delays, as well as respiratory and immune system problems.

Sophie said: ‘Before his first attack he had no inkling that Angus had a problem – he was a happy, healthy boy.

‘That attack lasted about five minutes, but it felt like an eternity. He was a bit sleepy afterwards, but seemed to be recovering.

‘The doctors kept him in overnight and suggested it might have been febrile convulsions [mild seizures that babies commonly suffer as a reaction to a fever].’

But in the months that followed he was in and out of hospital, suffering from severe colds that caused further attacks that became increasingly worse and longer lasting.

“Yet they couldn’t tell us why this happened,” Sophie said. “The doctors kept saying he could grow out of it.”

The tests were all normal and the couple were offered genetic testing, but again, the results came up empty.

Last On Christmas Eve, Angus suffered a seizure that lasted for hours – it was so bad that doctors decided to put him in a medically induced coma. This is to protect the brain when all other treatments have failed.

He got through it and six months ago a call came from the John Radcliffe Hospital, Oxford, with an answer.

‘From our blood samples they finally found out that he had something called CRELD1. The doctor said there was only one medical document written on it so far, so they weren’t sure how this would affect him or what would happen,” Sophie said.

The couple were put in touch with CRELD1 Warriors – a support group for the families affected by the condition.

“We found out he is probably the 28th person ever diagnosed,” Sophie said. ‘We also realized we were lucky as Angus was only mildly affected.

‘Other children have several attacks a day, or attacks that last up to seven hours.

‘The daughter of the couple who founded CRELD1 Warriors has sadly passed away from a seizure.

‘Still, it’s scary not knowing how it will manifest itself in Angus.

‘We would like to see more research, to find out exactly what is going on – and to find a treatment, because at the moment there is nothing.’

Despite his challenges, Angus is in many ways a normal little boy, says Sophie. ‘He goes to nursery and loves animals and running around in the outdoors.

‘Communication can be difficult because he has very little language, but he can communicate when he is thirsty or hot or needs something.

‘He takes three types of epilepsy medicine every day, in the maximum dose.’

Oli, who now works as a renewable energy expert, said: “Connecting with CRELD1 Warriors was so important – to talk to other families who were dealing with what we were going through.

“I wanted to give something back and that’s why I run these marathons.”

Visit the couple to sponsor Oli’s seven marathons in seven days mission Just give page.

He added: ‘Seven marathons in seven days seemed like a nice idea, and I had run seven half marathons and that was a piece of cake, so I thought this would be fine, but I feel like I underestimated how difficult it would be. would be.’

His routes start and start at the family home in Chaddleworth, Berkshire and he is backed by the support of army colleagues, friends, family and others in the CHELD1 Warrior community who have joined him on his runs.

“It was very difficult,” Oli said, “but I’m going to finish it.”