The family of a young girl who was diagnosed with rare childhood dementia after a routine eye test have spoken out about their mission to get her as much help as possible.
Little Isla Edwards was seven when she went for an eye test at school that would throw her entire world upside down.
After it was advised that she had problems with her vision and needed glasses, Isla’s mum Jacquelyn Stockdale, 34, took her to the opticians.
Advert
However, it turned out to be something far more serious, with Isla told she was suffering from a genetic condition known as Batten disease, which affects the brain and nervous system.
It causes dementia during childhood, along with delayed development, seizures, blindness and, tragically, premature death.
Jacquelyn, from Texas, told Newsweek: "The doctors confirmed that Isla had early signs of pediatric macular degeneration, and a genetic test would need to be done to determine the cause.
Advert
"They swabbed her mouth and gave us a follow-up appointment for August, when the results of the genetic test would be ready."
The mum continued: "On August 12, I was told that Isla's genetic panel had come back positive for a diagnosis of neuronal ceroid lipofuscinoses.
"Upon further explanation, we learned this disease is more commonly known as CLN3 juvenile Batten disease, a very rare, extremely devastating fatal illness with no treatment or cure.
"I was told that Isla would very soon lose her vision completely, develop childhood dementia and epilepsy, that her mental cognition would start declining, and that her physical abilities would also start to deteriorate. The life expectancy for a child with CLN3 was late teens to early twenties.”
Advert
The condition is believed to affect around three in every 100,000 births, making it incredibly rare.
While some children may make it to their twenties, some sadly may die as young as five.
But Isla’s family have refused to give up fighting, with mum Jacquelyn adding: “We are so proud of where Isla is at today. She has lost a substantial amount of vision since 2021, and she has about 10 percent left.
Advert
"But she still enjoys all the same activities such as swimming, dancing, video games, and has adapted to her current vision level.
“We don't treat Isla's vision loss as a sad circumstance or as something that is broken in her. It's so important for us that she knows her vision impairment is not something that makes her less than.
"If anything, it makes her a stronger, more amazing person, and we couldn't be prouder of who she is.”
Isla has been taking a medication called Miglustat since November 2022, which the family believe has been helping her.
Advert
There is a clinical trial to test the drug, but with fears Isla would be among the 50 percent of participants to receive a placebo, her family decided to pay for the treatment instead.
"The clinical trial started with the hopes that it would prove effective in treating CLN3 Batten disease as well," Jacquelyn said.
"We made the decision to share Isla's story on social media after it became clear that we could not afford to provide her with necessary treatment without help.
"Our community came together and raised funds to help us afford the $18,000 a month for the medication.”
She said Isla’s ‘eye deterioration has halted, which is a clear indicator that this medication is working to stop the progression of disease’.
To help with the ongoing costs, Jacquelyn has set up a GoFundMe page, which has raised more than $26,000 to date.
She has also created a Facebook group to ‘provide community awareness and support’ for her daughter.
Jess Hardiman