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Liverpool Echo
Liverpool Echo
National
Benjamin Roberts-Haslam

Girl, 3, with incurable disorder gives mum 'best present' she could ask for

A three-year-old who has beat the odds has given her mum the "best present" she could wish for at Christmas.

Isla Rose was diagnosed with a rare condition that just 500 other children in the world have after her mum noticed her twitching.

Mum, Sarah Steel, from Southport, said she had a "lovely pregnancy with no problems" and worked right up until two weeks before she was due to give birth.

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But five days after she was born baby, Isla Rose Steel started twitching in her hands, but Sarah was told by a midwife and health visitor these were just "baby tremors."

However, three days later after the first episode, Isla had a similar incident, but this time her eyes rolled into the back of her head and she was rushed to Ormskirk hospital.

After going back and forth to the hospital, Isla had seven weeks of treatment at Alder Hey Hospital and was diagnosed with nonketotic hyperglycinemia (NKH), a rare genetic disorder.

Approximately only 15 children in the UK are still surviving the condition and 500 around the world.

Despite the odds being stacked against her, Isla is now developing and working on her motor skills each day with her mum.

Sarah, 35, told the ECHO: "From such a dismal prognosis from the medical team, seeing 85% [of children] who are very severe and being in quite a sad situation really to now have Isla where she is being so happy and healthy, not having loads of hospital visits, I feel really lucky and really grateful.

Isla Rose Steel, 3 (Sarah Steel)

"To watch her doing her steps, watch her sit independently and to see how proud she is on her own realising she's doing all these things is magical, to be honest with you. She puts the work in. She's like an athlete.

"We've got walking parallel bars to help her walk, she's got a standing frame, she's got a walking frame, she's got her bike that she peddles on. She puts the work in and it's working.

"She's really thriving and she realises she's doing it. I think the more independent she gets and the more she's realising she can do that the better and happier she is. She's such a little personality and you can see she wants to do stuff on her own, she wants to feed herself, she wants to use her big girl cups. It's all there.

"There are glimpses into the future with what she's going to be able to work towards and what she will be able to do so it really is like a miracle. I couldn't ask for anymore.

"Even though it's quiet for us Christmas could've been a lot worse. She could've not been here. The fact she's here, happy and healthy, is the best Christmas present ever every Christmas."

Each Christmas the mum-of-one and her daughter isolate, even predating the Covid-19 pandemic, due to Isla's poor immune system.

Speaking about how they deal with Christmas's she said: "We've isolated for the past two and we will again this year. It's just Isla and I on our own. Just quiet really.

Isla has beaten the odds to get to where she is now (Sarah Steel)

"With Omicron and covid going on it's a scary time for us so we're on our own. It's one of them really, since we've done it before it's not the worst.

"We just wear our Christmas onesies and watch films. We open her presents and make the best of the situation. We'll do a lot of Facetime calls and just make the most of the Christmas period."

Sarah is also hoping to raise as much money as possible going forward, with the support of up to five boxing events in Southport she is hoping to be able to take Isla to America or Canada each year for intensive therapy.

Money is being raised to Isla can go to America for intensive therapy to aid her development (Sarah Steel)

The shows, called Lights Out Boxing, are organised by a team of local lads who aim to raise money for Isla by hosting boxing nights throughout the year. Their first event earlier this month raised £2,200 for Sarah and her daughter, with them needing up to £10,000 for a trip lasting two-four weeks.

The therapy ios four-five hours a day and aims to improve a wide range of Isla's skills and help her develop.

To donate towards Isla's cause, click here.

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