AN inspirational toddler with a rare condition is helping to raise awareness of genetic disorders in children.

Freddie Ormrod, who is 19-months-old, has Leigh Syndrome, a mitochondrial disorder which affects energy-producing cells in his body.

Freddie seemed to be a healthy baby until, at seven-months-old, he became less responsive and started having multiple seizures.

Medicine stopped the seizures and Freddie slowly began to respond to his parents again.

But Freddie was diagnosed with Leigh Syndrome which means he cannot sit without support and probably will not walk or talk.

But his parents say it does not matter. To them, he is just a happy little boy who loves toys and has a love for cars.

At first his mum Louise, 33, said she had no reason to believe her son was anything other than a healthy baby.

But then, Freddie prgoress stopped and he seemed to start going backwards.

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Louise, who lives in Colchester, said: “I compared him to other babies and he was just different.

“He didn’t seem to show any recognition of us and stopped being excited to see us.”

Louise’s husband James, 36, did not think there was a reason to be concerned, but he attended a baby group with Louise and realised his son’s differences.

The couple took videos and photos of Freddie and compared them to earlier ones.

Mrs Ormrod said: “The change in him was really obvious then.

“He’d stopped responding to pain and was very serious all the time.

“We made an appointment to see a specialist but the weekend before, when Freddie was eight months old, he became lethargic.”

That night, Freddie had his first seizure and was taken into hospital. His mum said it was terrifying to see him in such a bad condition.

She said: “The consultant’s face told me it was bad news.

“ That was the first time it sank in there might be a really serious problem.”

An MRI scan revealed there had been changes in Freddie’s brain, and it had been fixed into a seizure-type of activity.

The seizures became more regular and Freddie had to undergo a lumbar puncture to test his spinal fluid.

Louise said: “He was so tiny – it was awful to see him attached to all those wires.

“At one point he stopped breathing.

“I hit the alarm button, doctors and nurses came running, and I thought, ‘Is this my life now?’”

Freddie was diagnosed as having infantile spasms, a type of seizure.

He was put on steroids, which stopped the seizures temporarily, and was discharged after six nights in hospital.

“By then we’d been told he had a type of mitochondrial disorder though we didn’t know which one,” Louise said.

“It was scary to come home to a new life. I’d gone back home earlier to tidy – Freddie’s immune system was low because of the steroids so I had to make sure everything was clean – and when I went into his bedroom I just collapsed on the floor as life was so different.

“I looked around at pictures of him smiling – that was all gone. He was like a newborn again.’ Freddie was in Addenbrooke’s Hospital in Cambridgeshire a lot over the summer as he continued to have seizures.

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Eventually, a new medicine began to control them and he made some progress.

Louise said: “He started smiling or giggling just once a day and that made it all so worthwhile.

“If one of us was asleep while the other watched him, and heard him laugh, we’d go running as we knew it was vital to make the most of it.”

The diagnosis of Maternally Inherited Leigh’s Syndrome came through two days after his first birthday.

It is unlikely that Freddie will ever walk or talk. It can also be life-limiting with some children with his condition only reach their teens.

Louise said: “He has a good quality of life and is a happy-go- lucky little boy.

“He can eat and drink, and although he can’t sit unaided, he can play and loves his toys.”

Louise has given up work to look after Freddie and believes the experience has made her relationship with James stronger.

She said: “We’re very focused on Freddie, and that’s fine because we had ten years alone together first.”

Jeans for Genes Day holds an annual fundraising campaign for Genetic Disorders UK, and funds will will go towards family fun days with The Lily Foundation - a support network used by families with children with genetic conditions.

Louise said: “Getting to spend time with other families is so important as you can feel quite isoated.

“It’s also a good opportunity to learn from medical professionals who specialise in mitochondrial disease.

“We call The Lily Foundation our Lily Family.”

This year, Jeans for Genes Day is on Friday, September 22 and invites everyone to wear their jeans to work or school in return for a donation.


If you are doing a fundraising for Jeans for Genes, let us know by calling 01206 508414 or email