MOUNT HAWTHORN local Fiona Elmer has won a national award for supporting fellow families affected by the potentially fatal mitochondrial disease.
Her four-year-old son Aidan failed to thrive after birth and was diagnosed with “mito” following a lengthy two-year process.
It’s the second-most commonly diagnosed serious genetic disease (after cystic fibrosis) but little is known about it. There’s no cure and very few effective treatments. Many people go undiagnosed because there’s so little awareness, and they go without the available support.
“[Aidan] cannot produce enough energy to allow his cells to function properly,” Mr Elmer says.
“This means he struggles to do the everyday activities that three-year-olds love doing.”
Aidan’s now able to get about with a frame or walk about 20 metres unaided, and is moving on to using multiple words to communicate.
Ms Elmer, whose husband Dan Loden sits on Vincent council, says one of the hardest things for them is the uncertainty for his future. Half the children who develop mito will die in childhood.
“It is very difficult to give Aidan a prognosis and this is probably the hardest aspect for my family to bear,” she says.
“It is clear that without finding the key to proper treatment and a cure, Aidan’s life expectancy will be much reduced and his health and development are at risk when he contracts common illnesses.
For her work helping families affected by the disease, Ms Elmer won the Australian Mitochondrial Disease Foundation’s chairman’s award. CEO Sean Murray says she’s done a lot of hard work “setting up an AMDF support group in Perth, bringing together members of the mito community who would otherwise be quite isolated.
“She also campaigns to raise awareness for mito and spearheaded the Perth arm of ‘Light up for Mito’, which saw Perth’s council house lit up green recently for Global Mitochondrial Disease Awareness Week.”
In the UK, mothers likely to pass on the disease can undergo “mitochondrial donation” to receive a small number of healthy cells from a donor egg to replace the faulty mitochondrial DNA. Australian laws don’t allow that technique, and that needs awareness and political momentum to change.
The AMDF doesn’t get any government funding and relies solely on donations, running fundraisers like The Bloody Long Walk series August to November, and an annual ‘sleep in’ day every September (people with mito need frequent rests to recharge).
There’s more info on those at amdf.org.au
by DAVID BELL