Girl, 7, diagnosed with dementia after routine eye test
A girl from Texas was only seven years old when she received a shocking diagnosis after going for a routine check-up.
It's every parent's worst nightmare, to go for a check-up with your child only to discover that they are suffering with something far more serious.
Not only that, but there is no cure for it, and the best that medics can do is to try and relieve symptoms.
Tragically, that is exactly what happened with Isla Edwards from Texas. In March 2021 Isla had gone for a routine eye test at school when she was seven years old, and had complained that vision was a little fuzzy at long distances.
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Following the test medics recommended that Isla, now aged 10, immediately see a paediatric ophthalmologist, and her mum Jacquelyn Stockdale made the 90 minute drive to Texas Children's Hospital in Houston the very same day.
Jacquelyn told Newsweek: "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."
Following the appointment Isla was diagnosed with a rare and very serious condition called Batten disease. This causes childhood dementia, delayed development, seizures, blindness, and premature death.
Jacquelyn said: "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."
She added: "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."
In the three years since the diagnosis, Isla has already lost around 90% of her vision. However, her parents have said that she is adapting well to the loss, including learning to read braille.
Jacquelyn said: "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. But she still enjoys all the same activities such as swimming, dancing, video games, and has adapted to her current vision level."
Kit Roberts