Australian Pompe Association

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Australian Pompe Association

The Australian Pompe Association is a support group for parents and patients who are living with a d

Pompe disease is a rare degenerative muscle disease affecting less than 70 Australians. It is caused by our bodies lacking or being deficient in an enzyme called ‘acid alpha glucosidase’ that clears waste products called glycogen from the muscle. This waste product accumulates in the muscles which result in progressive muscle damage and severe muscle weakness. This normally starts with our largest muscles, in our backs, legs & diaphragms and moves on to smaller muscles in our hands, face & tongue. Respiratory muscles are also involved, severely affecting pulmonary function and, in time, most - if not all - patients will need ventilator support. Pompe’s Disease can present itself at any age from birth to older adults, its severity often depending on the age of onset, and level of enzyme activity. Babies have the most severe - ‘infantile’ - form of Pompe’s Disease and can develop symptoms in the first few months of life. The ‘infantile’ form of Pompe's Disease will progress very quickly and, without treatment, these babies may not live longer than twelve months due to the time it takes to diagnose and treat these babies. In Australia, we do not currently screen for Pompe Disease at birth. Adding Pompe Disease to the Newborn Screening schedule would give these babies a much better outcome. Pompe’s disease is a progressive disease that without treatment will rob our members of their mobility, their ability to breath without assistance, their ability to eat without assitance and eventually their lives. Luckily for Pompe sufferers, there has been a treatment developed. This treatment replaces our missing enzyme during a 4-5 hour fortnightly infusion. This treatment slows the progression of our disease allowing us to live longer and more normal lives. One of the Australian Pompe Associations goals is to raise awareness about Pompe disease and build a support base to help us petition the Australian Government to support New Born Screening.

28/10/2026

COMMITEE UPDATE:
On Sunday the 22nd of November at 5pm AEDT, the Annual General Meeting (AGM) for the Australian Pompe Association will take place over Zoom.

One of the very important items on the agenda is the Committee Roles. These positions will be vacated, as per our constitution, and we are looking for nominations for the positions.

🫵 If you would like to join our committee, and learn all about patient advocacy, this is your opportunity to nominate yourself using the form below. You must be a paid member of the Australian Pompe Association to be a committee member, or to vote.

If you are nominating another member for a role, and they are not currently serving in that role, please make sure you have their permission before doing so.

Please request a Committee Role Duty Statement should a role in the committee interest you: [email protected] 📩

19/10/2026

SAVE THE DATE 📅
Our Annual General Meeting (AGM) will be held online on Sunday, 22 November at 5:00pm.

All active members are welcome and encouraged to attend. We do need at least 10% of members to attend - we promise to keep it brief!

05/10/2026

Join our next Online Social Catch Up later this month! All members, carers, families and friends are welcome to attend.

It's a lovely opportunity to meet some new faces, share tips and tricks and just chat about anything! We hope to see a few new faces ☺️

30/09/2026

September is Newborn Screening Awareness Month in both the USA and UK.

While 48 US states now include Pompe Disease within their routine Newborn Screening heel-prick test, we continue to campaign for Australia's Newborn Screening Program to do the same. We thought that sharing Amanda and Marshall's story (from the USA) was a perfect way to highlight the importance of early screening and the life-changing, or life-saving, impact that early intervention can have.

Share your thoughts in the comments!

Families, partners, and newborn screening champions gathered at CDC...

15/09/2026

WORLDFair™ 2026 Annual Meeting is this weekend (USA Time)!

The WORLDFair™ Annual Meeting provides education about lysosomal diseases and current treatments for patients, caregivers, healthcare providers, and researchers.

Virtual registrations are available for those of us in Australia who don't mind staying up late with the time difference! Details below:

🌎 World-class experts. Research that matters. A community worth connecting with. 🌎

This Friday, September 18, join WORLDFair™ 2026, organized by the University of Minnesota’s Advanced Therapies team, for a day of learning across lysosomal storage diseases—not just Pompe!

Attend in person at the Minnesota Landscape Arboretum or join virtually from wherever you are. Hear current research and treatment updates, and explore topics that matter to patients and families.

💙 We’re especially excited to see supplements and the role of mitochondrial dysfunction in Pompe back in the conversation—important topics for understanding the disease beyond glycogen buildup.

Make room on your calendar to learn, connect, and feel more empowered in your care. Explore the agenda, register for the virtual experience, and invite another family to join you!

📅 September 18 | 9:30 a.m.–4:00 p.m. Central
🔗 Event details and registration

11/09/2026

Help us pick the theme for our next online social catch up sessions! What interest or topic would you like to discuss with your Pompe community?

Food? Travel? Hobbies? Accessibility aids and tips? Perhaps a session just for the carers?

Comment your suggestions below - all ideas welcome! 👇🏻

10/09/2026

It doesn't matter how you do it or how it looks...what is important is, you are doing it!

There is a TAD in almost every state...an excellent resource for equipment modification.

Dont let Pompe hold you back from what you love. Find a way to do it.

https://www.facebook.com/share/v/1ERw9Zga8b/

08/09/2026

❗️REMINDER ❗
Membership renewal fees are now due and a reminder email has been sent out. If you have any questions or concerns, reach out to Shelley at [email protected]

Keep in mind that your membership must be current in order for you to be invited to our 2027 Patient & Family Forum! 📅🎄‼️

04/09/2026

We are delighted to announce the dates for our 2027 Patient & Family Forum - Save the Date! We can't wait to see everyone! 🎄

28/08/2026

We've starting planning our 2027 Patient & Family Forum. Our African Drumming session was a hit last year. What activities would you like to see next?

Address

1 Pentridge Blvd
Coburg, VIC
3058

Website

http://www.australianpompe.com/

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