Submitted by Sarah Steel
Having been featured in the Liverpool ECHO last year, Sarah Steel, a mother from Southport whose daughter, Isla, suffers from a rare metabolic disorder, is now renewing her daughter’s appeal in an effort to generate funding for scientists to explore gene therapy trials.
In 2018, after discovering little Isla’s hands were twitching, Doctors at Alder Hey Hospital conducted tests and she was diagnosed with Non-ketotic hyperglycinemia (NKH), an extremely rare metabolic disorder that affects only 1 in 76,000.
Isla is thought to be one of approximately 15 children in the UK to be surviving with the condition. Globally, the numbers reach a mere 500.
Sarah said: “Isla keeps thriving and beating the odds. She is a very happy cheeky little girl and is the strongest soul I have ever met.
“She’s been through so much. An experience most people will never go through in a lifetime, yet every day she is wonderful and will beat this.”
Children who suffer from the disorder can experience seizures and developmental issues, with some never passing the milestone of smiling.
Sarah recently launched a £1 appeal for the research through her charity, the Isla Rose Foundation, which has achieved registered status and has raised nearly £5000. The official Instagram page has gained 5000 followers.
Sarah is hoping that by continuing her awareness campaign, scientists will be able to learn more about the disease and formulate more effective treatment strategies.
If you would like to donate to the Isla Rose Foundation’s £1 appeal, you can do so on their website here.
Alternatively, you can visit the crowdfunding page here.