Innocent 1st grader goes for routine eye test – and her unspeakably rare diagnosis has left us all broken

The worst nightmare of any parent is that something bad will befall their children. This is especially so when the child in question is young and innocent, wholly undeserving of the complications any sort of illness or accident might bring.

Spare a thought, then, for the family of Isla Edwards, whose worlds were turned upside down one day in 2021 after what should have been an uneventful eye test resulted in a terrifyingly grave diagnosis.

As per reports, little Isla, from Texas, was just seven years old when she began to experience fuzziness in her version at long distances. Mom Jacquelyn Stockdale, 34, decided it would be a good idea for her to undergo a routine eye test at the opticians, with the obvious thinking being that her daughter would perhaps require glasses going forward.

Sadly, Isla’s family had no idea of the heartbreaking truth that would soon come to light…

Following the aforementioned eye test, medics recommended that Isla immediately see a pediatric ophthalmologist, and so Jacquelyn soon found herself making the 90 minute drive to Texas Children’s Hospital in Houston.

“At this time, there were no signs of anything being wrong with Isla,” Jacquelyn revealed to Newsweek.

“Her vision was a little fuzzy at long distances, but nothing out of the ordinary for a kid who was on the borderline of needing glasses.”

Hooray for Isla Day! See you all at Isla's Faith Benefit & Can Release @ Buckstin Brewing Company!!! 11am-9pm! 🎉

Posted by Jacquelyn Escagne Stockdale on Sunday, November 28, 2021

Unfortunately, Jacquelyn was diagnosed with a rare condition known as Batten disease, the effects of which include childhood dementia, delayed development, seizures, blindness, and premature death.

Jacquelyn explained: “The doctors confirmed that Isla had early signs of paediatric macular degeneration, and a genetic test would need to be done to determine the cause. They swabbed her mouth and gave us a follow-up appointment for August, when the results of the genetic test would be ready.”

The devastated mom 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.”

Successful appointment with the TCH low vision specialist today 💕#NoBadDays 🌈

Posted by Jacquelyn Escagne Stockdale on Wednesday, January 19, 2022

Of course, Jacquelyn could scarcely believe that her beautiful little girl was suffering from such a serious and deadly disease.

Indeed, the odds are somewhat difficult to accept. According to the Cleveland Clinic, only around 3 in every 100,000 births in the U.S. are affected by Batten disease.

Two years on from her diagnosis, Isla has reportedly lost around 90% of her vision. Her parents, however, are determined to focus on the small victories she has won, including the fact that their daughter is yet able to take part in activities with other children. A GoFundMe page has also been established to help cover the costs of Isla’s ongoing treatment.

“We are so proud of where Isla is at today,” Jacquelyn said. “She has lost a substantial amount of vision since 2021, and she has about 10 percent left. But she still enjoys all the same activities such as swimming, dancing, video games, and has adapted to her current vision level.”

The mom added: “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.

“Vision impairment is the only symptom she displays of this disease, and we are fighting with everything we have to ensure it stays this way. We were told on diagnosis day that that day was the healthiest Isla would ever be, and that she was at her peak; two years later, and she has continued to defy that.”

Credit / Facebook – Jacquelyn Stockdale

As per Newsweek, Isla has been taking a medication called Miglustat since November 2022, and her family credit that with having given her a fighting chance.

“The clinical trial started with the hopes that it would prove effective in treating CLN3 Batten disease as well,” Jacquelyn explained.

“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 finished: “We still have a long journey in front of us, but as of right now, all her doctors are floored by her progress. We couldn’t be prouder and more hopeful for her future.”

We’re so inspired by Isla’s story, and are praying that she can continue to defy doctors in the future. If you were equally inspired, check out the incredible update on the little boy whose photo went viral as he battled cancer.