My 7 year old had a routine vision test and was diagnosed with childhood dementia

Teachers noticed that seven-year-old Isla’s eyesight might have been a problem, which led to the recommendation that she see an optician.

The girl, who lives in Texas, described her vision as “a little blurry at long distances,” so her parents hoped an eye test would improve the situation.

But when doctors examined her eyes, they found unusual problems in her eyes, prompting them to send her to the local hospital to see a pediatric ophthalmologist.

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A routine eye test turned into a shocking diagnosis

“At this point there were no signs that anything was wrong with Isla. Her vision was a little blurry at long distances, but nothing unusual for a child who was on the verge of needing glasses,” said her mother, Jacquelyn Newsweek.

When the family got to the pediatric ophthalmologist, it turned out that the seven-year-old had an extremely rare disease.

“Doctors confirmed that Isla had early signs of childhood macular degeneration and that a genetic test would need to be carried out to determine the cause,” she said. “They wiped her mouth and gave us a follow-up appointment for August when the genetic test results would be available.”

She was diagnosed with Batten disease (CL93) – an extremely rare and “devastating fatal disease with no treatment or cure.”

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

“We have not discussed any of this with Isla and still firmly believe that no child should have to bear the emotional burden of such a complex diagnosis.

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“I was told that my daughter would develop dementia and epilepsy as a child”

Batten disease affects one in 33,000 children in the United States. It often begins with vision loss, tremors and tics, mood swings and difficulty sleeping.

If symptoms persist, people suffering from Batten disease may also experience seizures and cognitive problems, eventually leading to problems speaking and clumsiness.

As time progresses, the brain slowly shuts down over a period of five to ten years.

Perhaps most devastating, however, is the development of dementia.

“I was told that Isla would very soon lose her vision completely, develop dementia and childhood epilepsy, that her mental cognition would decline and that her physical abilities would also deteriorate,” her mother said.

“The life expectancy of a child with CLN3 was between their late teens and early twenties.” Since her diagnosis in 2021, Isla has lost 90 percent of her vision and is learning Braille.

Mother Jacquelyn said she “couldn’t understand it [her] “A perfectly healthy child” would develop a disease as brutal as Batten.

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Family hopes their daughter will “live a fulfilling life”

Since November 2022, Isla has been taking a drug called miglustat, which costs $18,000 (AUD28,000) a month. Likely due to the medication, her only symptom of Batten disease is loss of vision.

“On the day of diagnosis we were told that day was the healthiest day Isla had ever had and that she was at her peak; Two years later, she has continued to resist it,” she said.

Jacquelyn hopes her now 10-year-old daughter will be the first to defy her short life expectancy and “live a full life, free from childhood dementia, ataxia, physical and mental disabilities and epilepsy.”

“We are so proud of where Isla is today,” she said. “We do not view Isla’s vision loss as a sad circumstance or as something broken within her. It is so important for us that she knows that her visual impairment does not make her any less.

If anything, it makes her a stronger, more amazing person, and we couldn’t be more proud of who she is.”