A major election pledge to expand the National Newborn Screening Program to 80 genetic conditions must be honoured and now fast-tracked to prevent further avoidable deaths and disability, according to advocates.
Australian Pompe Association President, Raymond Saich said that he was "deeply disappointed" that a year on from the Albanese Government's election pledge to expand newborn screening to include 80 conditions – including Pompe disease – there had been little action. Instead, there is talk of further reviews due to bureaucratic red-tape.
"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," he said.
Pompe disease is a muscle-wasting condition. The infant-onset form of Pompe disease is the most aggressive, with children dying within the first few years of life. The later-onset form, which can occur any time after one year of age, results in progressive muscle weakness which impacts mobility and sometimes breathing.
The Australian Pompe Association has written to the Federal Health Minister to ask when the election pledge will be implemented. It has also drawn the Health Minister's 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. Compelling images can be seen here.
