Mom horrified as 10-year-old daughter is diagnosed with dementia during routine eye test at school

Isla Edwards was only seven when she was diagnosed with the condition when her vision began to get 'fuzzy at long distances'

Mom horrified as 10-year-old daughter is diagnosed with dementia during routine eye test at school
Isla Edwards has been fighting a rare and fatal condition called Batten disease since 2021 that causes childhood dementia (Facebook/ Isla's Faith: Isla Edwards' Fight Against CLN3 Batten Disease)

TEXAS: A Texas schoolgirl, who went for a routine eye checkup, did not know she was actually suffering from a fatal disease.

Isla Edwards was seven in 2021 when her school conducted an eye checkup for its students and it was found out that her vision was weak, Newsweek reported.

The 10-year-old girl, who was in first grade at the time, was then taken to the opticians by her mother, Jacquelyn Stockdale, where they got to know about Edwards’ severe condition.

“At this time, there were no signs of anything being wrong with Isla. 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 34-year-old mother said.

However, the little girl’s family was asked to see a pediatric ophthalmologist as soon as possible.

‘Isla had early signs of pediatric macular degeneration’

Stockdale drove her daughter to Texas Children's Hospital in Houston, where “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,” the mother told Newsweek.

Stockdale explained, “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,” she shared.

The woman also mentioned, “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,” she revealed.

‘Batten disease is terrible’

Dr Josh Bonkowsky, the pediatric neurology division chief and the medical director of the Primary Children's Center for Personalized Medicine, has shed light on the disease.

He noted, “Batten disease is terrible; it's one of many severe terrible diseases that strike infants and children. It starts slowly and then rapidly gets worse.”

The doctor added, “Common early signs can be missing developmental milestones, or actually losing milestones. 

“This is called developmental regression. In some cases, the child or infant may lose vision and start bumping into things, have seizures, or become very unsteady with difficulty walking.”

‘We are so proud of where Isla is at today’

But Edwards’ family has not lost hope and mom Jacquelyn Stockdale shared with Newsweek, “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.”

The mother continued, “But she still enjoys all the same activities such as swimming, dancing, and 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.”

‘We still have a long journey in front of us’

Stockdale also gave credit to a medicine named Miglustat for slowing the disease's progression in her daughter's case.

She said, “The clinical trial started with the hopes that it would prove effective in treating CLN3 Batten disease as well. 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 the necessary treatment without help."

“Our community came together and raised funds to help us afford the $18,000 a month for the medication. 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 the disease,” said Stockdale.

She asserted, “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.”

She added, “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.”