The life expectancy for someone with CLN3 is late teens to early twenties
A young girl in Texas has received a heartbreaking diagnosis after going for a routine check-up on her eyes.
Isla Edwards went for a routine eye test at school when she was just seven years old after complaining that her vision was a little fuzzy at long distances.
Following the test, doctors recommended that Isla immediately went to see a paediatric ophthalmologist and Isla’s mum made the drive to Texas Children’s Hospital that very same day.
Speaking to Newsweek, Isla’s mum, Jacquelyn, explained: “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 serious rare condition known as Batten disease which causes 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.
“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 her diagnosis, Isla, who is now ten, has lost around 90% of her vision however her parents say that she is adapting well to the loss.
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.”
Jacquelyn wrote on Facebook just days ago that Isla is currently taking a new medication for Batten disease which they “hope and pray” will be revolutionary in stopping the disease in its tracks.
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