A girl from Texas was only seven years old when, after a routine examination, she was diagnosed with dementia.
Newsweek writes about it.
In March 2021, Isla Edwards went to school for a routine eye exam and complained that her long-distance vision had become a little blurry.
After the examination, doctors recommended that the girl, who is now 10 years old, immediately see a pediatric ophthalmologist, and her mother, Jacqueline Stockdale, made a 90-minute trip to Texas Children's Hospital in Houston on the same day.
Jacqueline said: "At the time, there was no indication that anything was wrong with Isla. Her vision at long distances was a little blurry, but nothing unusual for a child who was on the verge of needing glasses."
After the appointment, the schoolgirl was diagnosed with a rare and very serious disease called Batten disease. It causes childhood dementia, developmental delays, seizures, blindness, and premature death.
Isla Edwards / Photo: Newsweek
"Doctors have confirmed that Isla has early signs of macular degeneration in children and a genetic test must be performed to determine the cause. They took a swab from her mouth and scheduled us for a follow-up appointment in August, when the results would be received," the mother recalled.
"On August 12, I was told that Ayla's genetic panel had tested positive for the diagnosis of neuronal ceroid lipofuscinosis. After further explanations, we learned that this disease is more commonly known as juvenile Batten disease, a very rare, extremely rare disease. A devastating, deadly disease without treatment."
The women also said that very soon Isla would lose her sight completely, she would develop childhood dementia and epilepsy, that her mental abilities would begin to decline, and that her physical abilities would also begin to deteriorate. The life expectancy of a child with this disease was late adolescence, at the beginning of 20 years.
Three years after her diagnosis, Isla has already lost about 90% of her vision. However, her parents stated that she adapts well to the loss, in particular, learning to read Braille.
Isla with her parents and younger sister / Photo: Newsweek
Jacqueline said: "We are so proud of her. Since 2021, she has lost her eyesight significantly and has about 10 percent left. But she still enjoys the same activities, such as swimming, dancing and video games, and has adapted to her current level of vision."
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