A proposal to ask the Medical Services Advocacy Committee to review 15 diseases every two years for potential inclusion on the National Newborn Screening Program is a breach of the Prime Minister's promise to expand the program to 80 diseases from 1 July 2023.
Raymond Saich, President of the Australian Pompe Association, says that "these reviews won't tell us anything that we don't already know. It is a massive waste of time, during which more families will watch their babies die, and others will go on to live with decades of avoidable disability, all for want of a simple test."
"We already know that without newborn screening, babies will die from infant-onset Pompe disease and other fatal conditions or develop serious disability," he said.
"The PM stood with our members in April last year and made an election promise to add another 52 diseases – including Pompe – to Australia's newborn screening program by 1 July this year.
"The bereaved families and parents in the rare disease community feel let down by a government that appears happy to use babies for an election photo opportunity but won't implement their election promises."
"If the Prime Minister has changed his mind, he can call me and explain why. If he hasn't, he can call the Health Minister and tell him to deliver on the ALP's election commitment."
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 highlight 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.
"It's now time for the PM to intervene and honour his commitment to expand the national newborn screening program to 80 conditions without further delay," Mr Saich said.
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.
