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

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


Infants born with Pompe every year in Australia

15 Years

No new diseases added to Australian newborn screening in 15 years


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.


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