06:00, 07 November 2024
Words by Abi Scaife, Staff Writer, London
As a parent you are your child’s voice; their first cheerleader, their biggest supporter. This is even more true when your child is diagnosed with a rare disorder.
Isla is an adorable, excited, happy six-year-old - but when she was just a few days old, her mother, Sarah Steel, realised that there was something wrong.
After a series of hospital visits where they were repeatedly sent home, Sarah took Isla to Alder Hey Children’s Hospital in Liverpool where they stayed for six weeks.
"When doctors came in, I’d think, ‘What are you going to tell me now?’,” admits Sarah. “After six weeks in the hospital on my own, I was desperate to get back to some normality. Those were dark times, but Isla’s strength helped pull us through."
Eventually, Isla was diagnosed with Non-Ketotic Hyperglycinemia (NKH). This is a rare, genetic, metabolic disorder caused by a gene defect affecting the enzyme system that breaks down the amino acid glycine. This results in an accumulation of glycine in the body's tissues and fluids.
"Isla’s condition affects everything,” Sarah explains. “It takes so much more brain power for her to do things we’d do on autopilot. Just lifting her arm, or taking a step, requires all her focus and energy."
Unfortunately, because it is so rare, the NHS is not able to provide the level and amount of support that kids like Isla need. Only around 500 people are living with the disorder worldwide.
NKH can cause symptoms such as leads to low muscle tone, lethargy, seizures, coma, and apnoea. There is no cure - and many children don’t make it past three months.
"I don’t know how I made it through, because you’re thinking, ‘Is something going to happen at three months - is she going to go?' It was like a black cloud over us.”
Against all odds, Isla is thriving at six years old, but life is not without its challenges. Since her diagnosis, Sarah has set up the Isla Rose Foundation - an incredible, small charity that raises funds for Isla and the care she needs, as well as supporting other children affected by NKH.
"Honestly, she’s like a little superstar in our town,” Sarah says. “People fundraise for her, and they cheer her on. They believe in her, and she’s become a part of the whole community, which fills me with pride."
The local community has rallied around Isla and Sarah; children’s dance groups fundraise for them, friends and neighbours donate and give support, and have enabled Sarah to provide Isla with the tools she needs to thrive.
"Isla’s resilience, her strength, her stamina to do everything with a smile on her face—I don’t know how she does it,” says Sarah. “She really is my inspiration.”
Because the NHS isn’t able to help in the way that they would for a more common disease like cancer, Sarah has to fund Isla’s therapies - physio, occupational and speech - from her own pocket. This includes ‘intensives’ - where Isla will engage in focused therapy sessions for several hours daily over the course of a week.
Sarah says: “Every therapy session is a step toward more independence for her, so we push to make it happen however we can."
These therapies have helped Isla achieve things that previously seemed impossible - they enable her to do what we take for granted every day, like holding herself up. Sarah is a single mum and, while her loved ones are incredibly helpful, there is only so much one person can do.
"The Isla Rose Foundation supports other children’s therapy needs too, like providing splints and equipment,” says Sarah. “Every bit of therapy, every piece of equipment—it’s essential for their quality of life."
The support of Sarah’s family and friends - both in person and online - has been invaluable. Today, Isla is a curious, happy, passionate child who loves her forest school and moves from strength to strength - and that is a testament to Sarah’s hard work as her mother, and the work she does with the Isla Rose Foundation.
"It’s amazing to have this support from friends, family, and even people we’ve never met,” says Sarah. “They believe in Isla’s journey as much as I do, and they want to see her succeed, which makes everything feel possible."
Sarah is now fundraising to help Isla take her next steps. She needs £10,000 for a 3-week intensive therapy course at the Napa Centre.
If you want to support Isla and other children like her, you can do so by visiting The Isla Rose Foundation’s website.
To follow along with Isla’s story and find out about fundraising opportunities, you can follow Sarah and Isla on Instagram.
At Smiley Movement, we like to elevate the work of charities across the world. Here are three charities whose causes align with the themes in this article.
Rare Disease UK. This is the national campaign for people with rare diseases and all who support them. Find out more here.
Beacon. Beacon (formerly known as Findacure) is a UK-based charity that is building a united rare disease community with patient groups at its heart. Support them here.
The Isla Rose Foundation. This foundation supports children with the rare disease Non-Ketotic Hyperglycinemia (NKH), including Isla Rose Steel. Learn more here.
This article aligns with the UN SDG Good Health and Wellbeing.
