Little girl’s 1st-grade eye test reveals she has incurable disease

Isla Edwards was just 7 years old when a routine eye exam determined she has a rare, incurable disease that can lead to early onset dementia.

The Texas girl, now 10, went to the doctor in 2021 to manage her “fuzzy” vision. Her mother, Jacquelyn Stockdale, thought she might need glasses, but never could have imagined the devastating diagnosis they would receive.

“At this time, there were no signs of anything being wrong with Isla,” Stockdale, 34, told Newsweek this week.

“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.”

The ophthalmologist took photos of Isla’s eyes and immediately sent the family to Texas Children’s Hospital in Houston after inspecting the images.

“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. They swabbed her mouth and gave us a follow-up appointment for August, when the results of the genetic test would be ready,” Stockdale recounted.

“On Aug. 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.”

The Post reached out to Stockdale for comment.

Batten disease is a group of fatal genetic disorders that affect the nervous system and the body’s ability to get rid of cellular waste, causing a buildup of lipids and proteins, according to the National Institute of Neurological Disorders and Stroke.

Symptoms usually include progressive vision loss leading to blindness, seizures, movement disorder, dementia and early death.

“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 20s,” Stockdale said.

Her family was completely heartbroken to learn of the challenges Isla would face.

“There were simply no signs that she was anything other than a perfect, normal little girl. I had to come home and sit with our family and tell them this news, it was a horrific time,” Stockdale said.

The family ultimately decided against telling Isla what her rare illness will likely entail.

“We have never discussed any of this with Isla and still feel strongly that no child should have to carry the emotional weight of such a complex diagnosis,” Stockdale explained.

Two years after her diagnosis, Isla has already lost 90% of her vision, but has adapted.

She is learning how to read Braille and walk with a cane.

The young Texan still enjoys all her favorite activities, including swimming, dancing and video games.

“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,” Stockdale said.

“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,” she continued.

Her family believes that Isla’s incredible outlook is due to the medication Miglustat, which she’s been taking since November 2022.

Researchers are running a clinical trial on Miglustat, which the Food and Drug Administration has already approved for the rare genetic disorder Gaucher’s disease.

While the drug appears to be working for Isla, her family has struggled to afford the $18,000 monthly payments.

They turned to social media to share their story and collect donations.

“Since starting this medication, Isla’s eye deterioration has halted, which is a clear indicator that this medication is working to stop the progression of disease. This could mean that Isla may be the first child to go on to live a full life, free from childhood dementia, ataxia, physical and mental handicaps, and epilepsy,” Stockdale noted.

“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.”