On April 15, International Pompe Day, families across Australia will be celebrating their loved ones living with Pompe disease and remembering those they have tragically lost too soon.
Pompe disease is a devastating lysosomal storage disorder that causes physical development issues for newborns. Newborn screening for Pompe Disease has been routine in Taiwan and much of the United States for years, with early diagnosis leading to timely treatment and healthier babies.
Better Access Australia acknowledge these families, particularly Renee and Jenna, who have fought publicly for a national newborn screening program.
It is through the courage of those who stand up and share their stories that change occurs as evidenced by Labor’s announcement of a national and expanded newborn screening program as part of its increasing investment in Medicare commitments this election.
Despite listed treatments for eleven years in Australia, newborns with the infantile-onset form of Pompe disease can’t reverse the damage that is done to their bodies. For children, that delay is usually fatal. For adults it might mean losing the ability to walk by the time diagnosis and treatments are made available. Enough is enough.
“Today, five babies will be born who wont be diagnosed and commence immediate treatment because of Australia’s inadequate 1990s screening program. One could be a Pompe baby. Ms McNeill said.
“last week, Labor committed to making newborn screening a national program and updating the conditions screened for from 25 to 80, matching international best practice, if they are elected.
“For the Pompe community in Australia it means there is finally hope that Australia will match countries like Taiwan, the United States, Japan and Italy where babies receive screening at birth for this devastating, degenerative disease.
“Better Access Australia calls on the Liberal, Nationals and Greens parties to join Labor in protecting Australia’s newborns by making this reform a truly bipartisan commitment this election.
“In a rural setting screening is twice as important with the average time to diagnosis for a baby born in Dubbo or Wodonga or Woomera being 180 days for a diagnosis versus 90 in Sydney or Melbourne. National and expanded newborn screening would reduce that diagnosis to a matter of days for all babies born in Australia – no matter where they live.
“We only hope that on International Pompe Day 2023, the 821 babies that will be born in Australia on 15 April 2023 will be screened for Pompe disease and a further 50+ conditions that are included in international newborn bloodspot screening programs,” Ms McNeill concluded.
“There’s fundraising for Pompe today at the Daily Dose Café and Winebar in Maryborough (Victoria) today (thursday) for Pompe. It’s hosted by Nate’s mum Jenna. Make your way there – buy a coffee, talk to others in the community about Pompe disease, talk to each other about how Australia could be a world leader in newborn care again.
“Go say thank you to Jenna.”
