Appeal is launched to help nine-month-old Isla undergo life-saving treatment in the States
THE parents of a nine-month-old baby girl who has been diagnosed with an incredibly rare genetic condition, have launched an appeal to raise £3m for ground-breaking treatment in the USA.
Sarah Steel, 33, and Michael Settle, 32, from Churchtown, had their daughter Isla Rose in September. But within a week, Sarah spotted Isla’s eyes roll and her hands slightly twitch. She was taken to Ormskirk Hospital and then Alder Hey with suspected seizures but after extensive tests, little Isla was diagnosed with Non-Ketotic Hyperglycinemia.
The condition which can be terminal, is caused by an excess of glycine on the brain which affects development. Symptoms include frequent seizures, immobility, and something known as ‘global developmental delay’.
Isla is one of just 40 children in England and only 500 children world-wide with the condition but, fortunately, she is at the milder end of the spectrum.
Sarah told the Champion: “We took our beautiful baby Isla home after a wonderful pregnancy and five hour labour on September 30, 2018. We spotted symptoms but was told they were ‘baby tremors’ so as new parents we just carried on - and then her diagnosis completely devastated us.
“I asked what her life expectancy was and the medical people couldn’t answer. We couldn’t even pronounce the name of her condition.
“We began reading about it and were absolutely shocked.
“As with many rare diseases, it requires huge amounts of money for the research to continue and the cure to be brought to market. I am desperate to raise awareness of the condition and hopefully raise funds.
“We have had ground-breaking news that scientists in the USA and here in the UK, who are working on the condition, have been researching gene therapy that they are hopeful could bring about a cure. They have been putting the working enzyme into the livers of sufferers to break down the glycine with positive results.
“All of the families of those affected jointly need to raise £3million to get the research to trials. As it’s so rare, we receive no government funding and the money raised for funding comes from the parents of the children. Our goal is to get at least £1m towards the £3m both here in the UK and in the USA.
“That will enable trials into the condition to start and hopefully begin to change our babies’ lives forever.
“I will do anything for my baby girl and want to raise awareness of this awful condition. We are desperate to raise as much as we can to make a cure possible.”
l For more details of the condition Isla is suffering from, or to donate to the fundraising effort, visit