Charlotte's battle with Batten disease

Charlotte experienced her first seizure when she was three years old.

Originally, she was diagnosed with epilepsy. However, despite being on medication Charlotte continued to have seizures and her parents noticed a regression in her walking, talking and fine motor skills. She had more tests, including a Magnetic Resonance Image (MRI), electroencephalography (EEG) and bloods, and was diagnosed with Batten Disease.

This is an extremely rare neurodegenerative condition where the patient is missing an enzyme and waste material builds up in the brain cells.

“Basically she got to a certain point – three-years-old when she had her first seizure – and has been regressing since,” her mother, Sarah, said.

“Charlotte’s fine motor skills will gradually decline, causing progressive vision loss, seizures, movement, speech and cognitive inability.”

It’s predicted she will only live until 14 years old, at most.

“It was soul crushing when we found out,” Sarah said.

It is a genetic condition caused when both parents are a carrier.

“Charlotte has a twin and so we were worried she would have the disease too,” Sarah said.

“Thankfully she doesn’t, but she is a carrier so will need to do genetic testing in the future before having children.”

There are three currently known cases of Batten disease in Queensland, with Charlotte being the only case on the Gold Coast.

“There are 14 types of Batten disease, going from CLN1-CLN14,” Sarah said.

“Charlotte has CLN2, which is the only one with a treatment.”

Charlotte receives infusions every fortnight at Gold Coast University Hospital to slow progression and preserve quality of life for as long as possible.

“She has a reservoir that’s been inserted and sits outside her scalp that connects with the fluid that circles around her brain,” Paediatrics Director Dr Susan Moloney said.

“We access that device every fortnight and infuse some of the missing enzyme in over a six-hour period.”

“She will continue having the treatment for as long as it works, but there will come a point when we have to let nature take its course,” Sarah said.

“My husband and I will need to sit down with the neurologist and agree the treatment isn’t doing Charlotte any good anymore – she’s bed-ridden, can’t walk and talk – and no longer offer the treatment.

After Charlotte stops receiving the treatment, it can take up to 12 months before she passes.

But for now, Charlotte is a happy and relatively healthy child.

“To look at her, you wouldn’t think anything is wrong except she has a slightly funny walk,” Sarah said.

“She doesn’t say a lot – she has a vocabulary of around 20 words.

“She hasn’t said ‘I love you’ in more than a year.”

Charlotte has a very busy therapy schedule consisting of hydrotherapy, physio, occupational therapy and speech.

Due to the lack of awareness about childhood dementia, Charlotte is often misunderstood.

“It can be hard when she does have a meltdown in public, because I can’t explain that she has the mental cognitive ability of an 18-month-old,” Sarah said.

“When she gets told “no”, for example, she doesn’t respond the way a five-year-old typically would, because that’s all she understands.

“Dementia is widely known as a disease only older adults are diagnosed with, but that is not the case.

“There are more cases out there than you are aware of. It can be caused by more than 100 rare genetic disorders, and all of them are 100 percent terminal.

“It’s about having patience for parents and not judging on face value.”

You can watch more on Charlotte's story here.