11 September 2023 , 19:42
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A heartbroken mum in Texas discovered her daughter had a fatal disease after her daughter took a routine eye test at her school.
Jacquelyn Stockdale, mum to brave Isla Edwards, found her child had a form of childhood dementia when she took her to an optician appointment because Isla, seven, needed help with her eyesight.
Despite "fuzzy vision," Isla didn't appear to have any other symptoms but was later diagnosed with Batten disease, a rare genetic condition that causes dementia during childhood, delayed development, seizures, blindness, and even premature death. It is also known as 'CLN3.'
They discovered the horror diagnosis after consulting with a paediatric ophthalmologist at Texas Children's Hospital in Houston.
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Jacquelyn was told Isla 'would very soon lose her vision completely' (Jacquelyn Escagne Stockdale/Facebook)
Isla's condition was discovered after eye tests and then genetic testing (Jacquelyn Escagne Stockdale/Facebook)"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," Jacquelyn, 34, said to Newsweek.
Horrified, Jacquelyn was told Isla "would very soon lose her vision completely" and then "develop childhood dementia and epilepsy." She added Isla's "mental cognition would start declining, and that her physical abilities would also start to deteriorate."
The life expectancy for people with juvenile Batten disease is children living into their teens or early 20s. So what is Batten disease and can it be spotted?
Batten disease symptom in the eye
A study into juvenile Batten disease by UK experts in 2019 found that "Visual impairment presents as the first symptom in more than 80% of cases."
"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," Jacquelyn added.
Diagnosis usually comes from genetic testing, the Boston Children's Hospital said. The National Institute of Health (NIH) listed the following as other possible symptoms of Batten disease:
- Seizures
- Movement disorder
- Dementia
What is Batten disease?
Batten disease - a condition that is thankfully rare - is a type of genetic disorder that affects the nervous system and brain. Around 14,000 children across the globe are known to have it and it occurs in two to four of every 100,000 children in the US. Despite research efforts, there is currently no cure.
"Vision loss is often the first symptom and can rapidly progress," Boston Children's Hospital said. "Parents also often notice clumsiness and stumbling in older children due to a loss of motor coordination. Eventually, children with Batten disease become blind, unable to walk, talk, or swallow, and confined to a wheelchair or bed."