A three-year-old was diagnosed with an "orphan" disorder that means she is only just learning to walk.

Isla Steel from Southport was just five-days-old when her mum Sarah Steel noticed she was twitching.

She then rushed her to Ormskirk Hospital where they couldn't find anything wrong and was sent home.

READ MORE:Doctor blamed fizzy drinks but girl's life was actually in danger

Then, when the concerned mum noticed it again, she took her to Alder Hey where Isla was kept in for six weeks.

After numerous different tests, Isla was diagnosed with an incurable disorder, nonketotic hyperglycinemia.

Isla Steel
Isla Steel is now learning to walk at three-years-old

The 35-year-old personal trainer told the ECHO : "Some [children with the disease] can be blind, some can have brain malformations, they have seizures, muscle weakness.

"Some of them don't get to any developmental milestones bar a smile.

"It's pretty horrific. Most don't make it past their first birthday, but Isla has just had her third birthday which is amazing."

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Sarah added: "She was twitching and she was always looking away, then she'd twitch a little bit more. I thought there's something really wrong here so I took her to Ormskirk Hospital where they did tests over four days.

"They tested her for meningitis, infections and all that kind of thing but they couldn't find anything so they sent us home. They booked us in for an EEG in November, and this is end of October when they send us home, so I said I wasn't waiting because something was wrong.

Isla Steel with mum Sarah Steel
Isla Steel spent six weeks at Alder Hey before she was diagnosed with NKH

"I was ringing all week saying she's my first baby, I can't sit and wait for this, there's something off, can you try and get me in through a cancellation and they were trying to work with me to be fair.

"We were home from Ormskirk on the Sunday and by the Friday I was changing her nappy and her head started going from side-to-side so we jumped in the car and I drove her to Alder Hay then.

"Because what she has is incredibly rare, only 500 children in the world, they tested her for what they thought it was, which is what she has, three times because it's so rare they didn't actually believe it. They just kept checking."

Isla is now learning to sit up and talk after beating the odds to get to three-years-old last month.

Isla and Sarah Steel
Isla Steel was diagnosed with an incurable disorder after her mum, Sarah Steel, rushed her daughter to the hospital at five-days-old

Sarah told the ECHO: "She's learning to sit up independently, she's just got a walking frame to practice her walking and she can say the odd few words like her name and 'mama', as well as some random words like water.

"It's one of them where you think to yourself 'did you just say that?'. She's really happy, really healthy and doing really well. They were basically writing her off and saying she wouldn't survive, don't get your hopes up, but Isla has her own path, her mind and doing her own thing.

"If I can facilitate that as much as I can and just help her then we're both happy. I'm really proud of her, she's an incredible little girl."

Sarah is now urging people to donate to the Isla Rose foundation in hope of finding a cure for NKH.

Sarah said: "It's been really hard because of covid. We had the charity approved during covid.

"But still, we've had loads of support from people in Southport still doing things with their businesses. People have really helped us. It's been better than it has but not as good as it should have been."

To donate to Sarah's GoFundMe, click here, or to visit the Isla Rose Foundation website, click here.

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