Latest News

Newborn Screening Australia- Pompe Disease

The Australian Pompe Association welcomes the proposed expansion of newborn screening announced by the Federal Government. 

The inclusion of Pompe on the national newborn screening program has the potential to save the lives of Australian babies and the tragedy it brings to many families.  

Pompe Disease

Pompe Disease is rare, and difficult to diagnose, as many patients have varying symptoms. It can present a few weeks from birth or later in a patients 40’s, onset is varied.

Early diagnosis and treatment are vital to ensure the best outcomes for patients. The longer diagnosis is delayed the more muscle damage is being done.

If you are experiencing persistent symptoms, talk to your GP about Pompe Disease.

Our Stories


Those who know me will remember a very normal girl growing up, who like many others was not very good at sport, pretty slow at running and maybe a little clumsy.

I have always been a very active person in general and in my 20s and very early 30s would go out dancing all night with friends. I fell pregnant in 2004 and very slowly things began to change.


Diagnosis or not, Pompe has had a large impact on my life over the years. It’s not only just the big things but the small things!


I realised that I had had an accident which had camouflaged the real cause of my body’s deterioration.

About Pompe

Watch the video

Newborn screening and early treatment is vital to ensure that Pompe patients get the best chance for life.

Pompe disease is one of the few rare diseases there is a treatment for. The sooner the baby can receive treatment the better the outcomes for that child and their family.


Infants born with Pompe every year in Australia


A $10 donation can help us to reassure a parent that they are not alone


One drop of blood is all that is required for a pompe diagnosis

Community support and awareness is vital to our small group of Australians suffering from Pompe disease.

All donations are greatly appreciated.

Donations over $2.00 to the Australian Pompe Association are tax deductible.


Are you or someone you care for living with Pompe disease within Australia?

Join the Australian Pompe Association for support.
Join now

Contact your local MP to help raise awareness of Pompe Disease and the need for a newborn screening program.

We’ll send a letter on your behalf to your local MP explaining why it is so vital to catch Pompe disease early in a newborn screening program.
Send a letter