PARALYSED by fear, Katie Brewer watched as her baby boy hunched over, screaming and shaking again.
Four-month-old Toby had been having repeated terrifying seizures – but doctors assured her it was nothing more serious than colic.
But Katie, from Glossop, Derbyshire, knew instinctively it wasn’t right and within days he had rapidly deteriorated.
Toby was rushed to hospital where he had to be put on a ventilator while doctors carried out scans and tests to figure out what was wrong.
An MRI scan revealed he had suffered brain damage and medics warned Katie and husband Matt that their son only had a month to live.
Defied the odds
But their little boy, then only months old, defied the odds – and turned five in May.
It was a long road but the family discovered his diagnosis two years later.
He has life-limiting Mitochondrial Disease – just like Coronation Street’s Leanne Battersby and Steve McDonald’s son Oliver.
The progressive condition, thought to affect more than 15,000 families across the UK, has no cure – so a diagnosis is a devastating one.
Katie, 33, said: “When Toby was born, he was absolutely perfect.
“I had a normal pregnancy and he was born on his due date.
“Even though he was a tiny little dot at 6lbs 3oz, he was perfectly formed. We couldn’t wait to get him home.”
But when Toby was less than two months old, she sensed things weren’t right as he failed to hit key developmental milestones.
After a visit to the GP, the tot was referred to an ophthalmologist and his parents were advised there could be an issue with his sight.
“We Googled everything they said, and thought right that’s it, he’s blind,” says Katie.
“We were devastated, but we tried to get our heads around it by saying, well it’s all he’s ever known, and at least he’s still here.
“The doctors referred him for an MRI to happen at six months.”
But before the MRI – just like toddler Oliver on the ITV soap – one of the key indicators of a major problem with Toby’s health came with a recurrence of frightening seizures when he was four-months-old.
Katie said: “He was doing this strange thing where he would hunch over and scream and shake.
“Initially we were told it was colic, but it seemed so awful.”
It was only Katie showed a video of one of Toby’s seizures to a GP, that alarm bells rang and she was told to take him to hospital immediately.
“It was really frightening,” she said.
“The doctor told me she thought it was infantile spasms and of course I knew he’d been having lots of them.
“In the end we found out he was having as many as 300 a day.”
By luck the consultant at Tameside Hospital was an epilepsy specialist, and advised them to get straight back in the car and go Manchester Children’s Hospital.
Toby was given a brain scan, before being sent back to Tameside where his condition was brought under control with a combination of steroids and anti-epileptic medication.
After four nights in hospital, he was discharged and the couple went straight to collect the keys for the family home they had been in the process of buying when Toby fell ill.
But just a day later things took a turn and Toby deteriorated rapidly.
“He had turned blue, and we discovered he’d picked up an infection,” says Katie.
“He was blue-lighted from Tameside to Manchester Children’s Hospital, where he was put on a ventilator.”
The couple were left in the dark as they sat at their son’s bedside while medics busied around them carrying out tests.
“We didn’t even know what they were looking for,” Katie says.
“He had an MRI, a CT scan, he had muscle and skin biopsies.
“Then at some point when he was still on the ventilator, we were taken in by the consultants to find out what was going on.
“They told us the results from the biopsies weren’t back yet, and wouldn’t be for some time, but that the MRI had shown a lot of damage in his brain.”
Even more agonising was Toby’s prognosis.
“They said we’d be lucky to have a month with him,” she said.
“That was near the end of September 2015, and we were heartbroken.”
Not married at the time, within days Matt proposed to Katie in the car park at Ronald McDonald House – a charity-run ‘home away from home’ where parents stay while their children are in hospital.
“We thought, if he’s only going to live a short time, I want to have the same surname as my little boy,” Katie said.
Toby was taken off the ventilator after two weeks, and by the end of October his parents agreed with medics that with strong support from community nurses, it would be the kindest thing to take him home.
Doctors warned it was unlikely Toby would make it to Christmas.
“He could have stayed in hospital or gone to a hospice, but we’d bought this house to be our home,” says Katie.
“We wanted to live as a family while we could.”
Shotgun wedding
By then Toby’s parents knew his ill health could be down to Mitochondrial Disease, which can affect any organ in any person at any age.
But they’d been warned an official diagnosis was a long way off because of the complex nature of the condition.
Along with support from friends and family, Katie and Matt organised their wedding in a few short weeks.
“I got the bus into Manchester with my mum while Toby was still in hospital to get my dress,” Katie said.
“I did it in three hours because I didn’t want to be gone for long. I got it in BHS and I remember paying 10p for the bag to take it home.
“It wasn’t how I’d imagined it, but it was exactly how it needed to be.
“I had his feeding backpack on over my wedding dress and two of the nurses from the hospital were there to help. They couldn’t have done more and we loved the day.”
Remarkably, Toby made it through his first Christmas, defying doctors’ expectations – something the youngster has been doing ever since.
It wasn’t until he was two and a half that his official diagnosis for Mitochondrial Disease was secured.
“At that point, I was 14 weeks pregnant with my daughter Nieve,” says Katie. “We’d been pretty sure for a while that Toby had it, but hearing it officially was hard.
“The results showed the precise combination he had was incredibly rare, and they told us there was a one in four chance of a child of ours having it, a two in four chance of being a carrier but not being affected, and a one in four chance of not having it at all.
