A Child Diagnosed with Rare Neurodegenerative Disease
09 Jan 2026
Charlotte experienced her first seizure at the age of three and was initially diagnosed with epilepsy. However, despite treatment, her seizures continued and her parents noticed a decline in her walking, speech and fine motor skills. Further testing, including MRI scans, EEGs and blood tests, later confirmed she had Batten disease.
Batten disease is a rare, inherited neurodegenerative disorder caused by the absence of a critical enzyme, resulting in a build-up of waste material in brain cells. The condition leads to progressive loss of vision, movement, speech and cognitive function.
Charlotte’s mother, Sarah, said her daughter’s development began to regress after the first seizure.
“She reached a point at three years old and has been declining since,” she said.
Medical specialists have advised the family that children with the condition typically have a significantly reduced life expectancy.
Batten disease is inherited when both parents are carriers of the affected gene. Charlotte has a twin sister who does not have the disease but is a carrier and will require genetic testing in the future.
There are currently three known cases of Batten disease in Queensland, with Charlotte the only reported case on the Gold Coast. Fourteen types of Batten disease have been identified, labelled CLN1 to CLN14. Charlotte has CLN2, the only type for which a treatment is available.
Charlotte receives enzyme replacement therapy every two weeks at Gold Coast University Hospital. The treatment is administered through a reservoir implanted beneath her scalp, allowing medication to be delivered directly into the fluid surrounding the brain over a six-hour period.
Paediatrics Director Dr Susan Moloney said the treatment aims to slow the progression of the disease and support quality of life.
The treatment will continue while it remains beneficial. Once it no longer provides meaningful improvement, it may be discontinued following consultation with medical specialists. After treatment stops, patients may live for up to 12 months.
Charlotte currently attends regular hydrotherapy, physiotherapy, occupational therapy and speech therapy sessions.
Despite her diagnosis, Sarah said Charlotte appears relatively well and her condition is not always obvious to others.
She said limited public awareness of childhood dementia often leads to misunderstanding, particularly in public settings.
Batten disease is one of more than 100 rare genetic conditions that cause childhood dementia, all of which are terminal.
https://www.goldcoast.health.qld.gov.au/about-us/news/charlottes-battle-battens-disease
Source:
Gold Coast Health / Gold Coast University Hospital
