Concern is growing over the fate of one of the Albanese government's key election commitments, with the Australian Pompe Association expressing 'deep disappointment'.
Before last year's election, Labor committed to a virtual national takeover of Australia's patchwork of newborn bloodspot screening programs.
However, while health minister Mark Butler has denied any backtracking, the promised expansion will be slowly implemented based on advice from the Medical Services Advisory Committee.
The implementation is effectively the status quo, with a small number of individual conditions considered each year based on a health technology assessment.
Pompe disease, which has funded treatments, is not included in screening programs and is not currently on the list of conditions to be considered.
Australian Pompe Association president Raymond Saich said he was “deeply disappointed” that a year after the Albanese Government’s election pledge to expand newborn screening to include 80 conditions, including Pompe disease, there had been little action.
“Prime Minister Albanese’s commitment during the election campaign to introduce world-class newborn screening was a defining moment, offering hope that we could prevent the devastating and entirely avoidable loss of life and disability caused by conditions like Pompe disease,” he said.
“However, a year on, we are still waiting for this major election pledge to be implemented. The cost of this delay is devastating for Australians impacted by any form of Pompe disease."
Mr Saich said the association has written to Minister Butler and drawn his attention to the consequences of not expanding the program, including the experiences of two families who, in recent months, have suffered from delayed diagnosis and life-threatening disability.
“We urge the Prime Minister to honour his commitment to expand national newborn screening in line with his election pledge. No parent should have to watch their child suffer and die from Pompe disease for want of a simple test,” he said.
"The earlier Pompe disease is diagnosed and treated the better. Overseas, infants diagnosed with Pompe disease through newborn screening commence treatment within days or weeks of birth and are living active lives years on, in stark contrast to the infants who have lost their lives in Australia."
Better Access Australia also accused the prime minister of breaking his election commitment.
“On 6 April 2022, the Prime Minister announced Labor’s election commitment to expand newborn screening to 80 diseases. He specifically mentioned Pompe disease as a disease to be screened for and treated as part of his election commitment. Yet the Government has since confirmed that Pompe and 40 plus other diseases are nowhere on their workplan for 2023," said Felicity McNeill PSM, chair of Better Access Australia.
“On 6 April 2022, Mark Butler tweeted his commitment to Nate’s mum Jenna, that no other family would ever go through their pain of losing their beloved baby boy to Pompe disease, because Labor was going to expand and nationalise newborn screening to 80 diseases. And yet Pompe and 40 plus other diseases are still nowhere on the public workplan for the Albanese government.
Each year, 2,500 children are lost to perinatal and congenital conditions in Australia. It is the biggest cause of death for girls under 14 and the third for boys. Many of these deaths are preventable with early diagnosis and treatment.
“Labor promised to fix this in 2023, but 12 months after the Prime Minister gave hope to thousands of families who had lost their children to diagnosable and treatable diseases, no child in Australia is any closer to a diagnosis and treatment at birth.
“Labor promised pompe families, gaucher families, fabry families, SCID families and dozens of other families and support groups in rare diseases they deliver a national and expanded newborn screening for 80 diseases by 1 July 2023. But they have overpromised and underdelivered, handing money over to the states without fixing the program for the babies that need it,” added Ms McNeill.
