EIGHTEEN years ago Pippa Beard was told she had one year to live.
The Carine resident was diagnosed with mitochondrial disease when she was 19 and two years later was given the heartbreaking prognosis by doctors.
But with the help of parents Don and Rely, and sister Toby, the 39-year-old continues to defy the odds.
Stirling MHR Michael Keenan has joined the family in its quest to raise awareness of the disease and gather political support for mitochondrial donation in Australian IVF clinics.
The Australian Mitochondrial Disease Foundation wants Australia to follow the lead of the UK to change laws allowing women access to an IVF procedure to replace a mother’s faulty mitochondrial DNA with healthy donor mitochondrial to avoid passing on the disease to children.
“Not only does mitochondrial donation allow a couple to have a healthy baby, but more importantly it has the potential to completely eradicate the maternally inherited disease,” Mr Beard said.
The mission is also personal for the Beard family as Toby’s partner Amy gave birth to their two children.
“Toby would have liked to have one as well…but she wasn’t prepared to run the gauntlet of passing mito to the children,” he said.
Mr Keenan said the Federal Government recognised the potential benefits of mitochondrial replacement and the National Health and Medical Research Council was investigating, with findings expected early next year, though legislative change would need to be supported by public consultation and debate.
“I look forward to continuing working with the Beard family to do everything that I can to raise awareness about this devastating disease,” he said.
Mr Beard said Pippa was at university, “living a normal life” when the disease manifested.
“In hindsight she’s going really well to stick with us,” he said. “It’s a very unusual disease, it can hit different parts of the body.”
The disease is a genetic disorder passed on by mothers that starves the body’s cells of energy, causing multiple organ dysfunction or failure and potentially death.
Mrs Beard and Toby also have it but do not experience the same problems as Pippa.
Pippa suffers from severe hearing loss, cognitive decline, muscle weakness, vision loss, reduced mobility and decreased energy levels, causing her to sleep about 15 hours per day.
She has been on life support on four occasions.
“We believe in old-fashioned things like the power of love and we believe that’s what has kept her alive all these years,” Mr Beard said.
Doctors can more readily diagnose the disease in children but Mr Beard said they were still searching for a cure.
“We live in eternal hope, we like to remain as optimistic as possible,” he said.