AS A seven-year-old at Yowie Bay Public School, Kara Crawley was at the top of her class and enjoyed learning the flute and playing with her friends.
Her mother, Karen Crawley, knew Kara had health issues but specialists were unable to put their finger on what was wrong.
"She had lost all her teeth by seven and had issues with her eyes, reflux and lack of co-ordination," Dr Crawley said.
Just before her eighth birthday Kara had a stroke and was diagnosed with mitochondrial disease, a debilitating genetic disorder that robs the body's cells of energy, causing multiple organ dysfunction or failure.
It is difficult to diagnose due to the widespread range, type and severity of symptoms and its varying onset and impact on patients' lives.
Until the 1990s, mitochondrial disease was thought to be rare (1 in 20,000 people) but new research has shown that it may affect 90,000 Australians.
Dr Crawley wants to raise awareness of the disease.
"Kara is remarkably well, considering," she said.
"She struggles to understand and she gets very agitated — she still sees herself as a normal 13-year-old girl who wants to go to high school, go to university and become a doctor.
"She has no real rational thought and [has lost] a lot of her long-term memory because of dementia. You're watching them die slowly."
FUND-RAISER
The Australian Mitochondrial Disease Foundation will host a fund-raiser at Gymea Tradies on August 31. The $65 ticket includes a three-course meal (drinks at club prices) and entertainment. Tickets: Maria, 0414 956 952 or Karen, email Karen.