Australian laws need to change to allow women carrying mitochondrial disease to access a ground-breaking IVF procedure so they can have healthy, biologically-related children free from this incurable and life-threatening genetic disease, according to the Australian Mitochondrial Disease Foundation.
Speaking at the AMDF Mitochondrial Donation Symposium in Melbourne during Global Mitochondrial Disease Awareness Week, AMDF CEO Sean Murray called on the Australian Government to revise its legislation and give women the choice to access mitochondrial donation in Australian IVF clinics.
“At least 60 Australian babies each year could be prevented from suffering severely disabling and potentially fatal forms of mitochondrial disease if mitochondrial donation was available here. It offers the first practical hope for future generations to live free of maternally inherited mitochondrial disease,” Mr Murray said.
Mitochondrial donation involves replacing the mother’s faulty mitochondrial DNA (0.1% of her egg’s genetic material) with healthy donor mitochondrial DNA so the resulting baby will not suffer mitochondrial disease, a serious genetic disorder that starves the body’s cells of energy, causing multiple organ dysfunction or failure and potentially death.
“Pioneering legislative changes in the UK permit mitochondrial donation for women at risk of having a baby suffering severe mitochondrial disease, with the first births expected in 2018,” Mr Murray said.
“Depending on which parts of their bodies are most affected and to what extent, people with mitochondrial disease can lose their sight or hearing, be unable to walk, eat or talk normally, have strokes or seizures, develop liver disease or diabetes, suffer cardiac, respiratory or digestive problems, or experience developmental delays or intellectual disability.
“You wouldn’t wish mitochondrial disease on your worst enemy, so the prospect of mitochondrial donation is a beacon of hope for women who don’t want to risk their babies suffering or dying from mito.
“Mitochondrial donation could become a reality in Australia by amending two federal laws, which are being reviewed by the National Health and Medical Research Council.
“The groundwork has already been laid in the UK, with extensive research and a ten-year global scientific and ethical review leading to the establishment of the world’s first regulated system to provide mitochondrial donation.
“It’s time for Australia to have these conversations and get moving for mito; for many affected women who want children, this change can’t come soon enough and is sadly too late for some families.
“Australia’s mitochondrial disease community is actively involved in encouraging the Federal Government to legalize mitochondrial donation. People affected by mito have now met with close to 40 federal MPs to seek their support in changing government legislation so women here can utilize this innovative procedure to prevent their children inheriting mitochondrial disease,” he said.
At least one Australian child born each week – or 62 children every year – will develop a severe or life-threatening form of mitochondrial disease, and half will die in childhood; it is now the second most commonly diagnosed serious genetic disease after cystic fibrosis.
Globally, it is estimated 37.5 million children and adults (1 in 200) may suffer with mitochondrial disease or could pass it to their unborn children, yet most people had not heard of ‘mito’ until UK baby Charlie Gard’s recent tragic plight sparked worldwide sympathy and calls for more research.
New international best practice guidelines for patient care
Mr Murray also urged Australian healthcare professionals to follow new international best practice guidelines for high quality patient care published by the Mitochondrial Medicine Society, which were developed with input from Australian experts Professor John Christodoulou and Professor Carolyn Sue.
“These new global standards of care – available at amdf.org.au – provide essential, peer-reviewed guidelines so healthcare professionals can ensure their mitochondrial disease patients receive the care they deserve to live the best life possible in spite of this debilitating, life-limiting disorder,” he said.
“There are unfortunately few effective treatments and no cure for mitochondrial disease, which can cause any symptom in any organ at any age, and often affects multiple family members.
“It’s a complex disease with more than 100 sub-types, so it is a challenge for doctors and their patients, who currently have to rely on symptom management and lifestyle modifications.
“Global Mitochondrial Disease Awareness Week, 17-23 September, focuses welcome attention on this little known disease, and the Australian Mitochondrial Disease Foundation urges the medical community and the public to learn more and donate for research, patient support and education.”