Australian Pompe Association

13/03/2026

SEEKING EXPRESSIONS OF INTEREST
We are hoping to host smaller, but more regular member catch ups online via Zoom. These meetings don't necessarily have to be about Pompe, it's more about meeting new people, learnings new things and keeping in touch!

If you're interested, comment on this post OR complete the short questionnaire below (link in comments) and let us know what type of groups or topics you would be interested in.

01/03/2026

A powerful message from Shelley & Tully in recognition of 🩵💚 Highlighting the importance of Newborn Screening, Genetic Testing and early intervention.

Five‑year‑old Tully is one of just 90 Australians living with Pompe disease, an ultra‑rare genetic disorder that prevents the body from breaking down glycogen, leading to muscle weakness and potential heart and breathing issues.

"His Dad and I underwent routine genetic carrier screening and we found out we were both carriers of Pompe disease," his mum, Shelley, said.

"We were told Tully had a one in four chance of diagnosis, and at 16 months old he was confirmed to have late-onset Pompe disease. Early testing showed he already had symptoms, despite appearing healthy."

For three years now, Tully has been visiting us fortnightly for an enzyme infusion to manage his condition - or as he understands it, get "muscle juice" - which he will continue having indefinitely.

"We don't expect him to have a rapid decline and the treatments buy us time until there's another option," Shelley said.

"Thankfully Tully is still hitting all his milestones and is a very active little guy - he loves his swimming and skateboarding!"

On Rare Disease Day, Shelley is hoping to raise more awareness for Pompe disease.

"Living with a rare disease is more than you can imagine," she said.

"We're strong supporters of genetic carrier screening and newborn screening to identify potential conditions earlier and give children the best chance possible."

27/02/2026

Today, on Rare Disease Day, we celebrate all of our patients, carers, families, clinicians, advocates and friends of rare disease - We are so grateful for our community.

Happy Rare Disease Day 💚🩵🩸

23/02/2026

We're hoping to put together a short video/reel to celebrate later this week. We're on the look out for a few members to film a very short (10-20 second) video response to the question "What Does Rare Disease Day Mean to You?"

Please contact Maddy if you are interested in filming a response! 🎥🤩

23/01/2026

A very important post from our friends at Acid Maltase Deficiency Association - AMDA (USA).

Anxiety with Pompe can be tough. Reach out for support if you need.

Anxiety affects everyone. But how it is experienced and managed can look very different for someone living with Pompe disease.

For many in the Pompe community, anxiety is closely tied to the body. Changes in breathing, fatigue, muscle weakness, medical appointments, and long-term uncertainty can all contribute. Managing anxiety often means choosing tools that respect physical limits while still offering relief.

Some anxiety supports that many people with Pompe find helpful include:

• Breathing awareness, focused on slow, gentle breaths without forcing or breath holding
• Pacing and planned rest, especially when physical fatigue increases anxiety
• Predictability, such as preparing for appointments or routines ahead of time
• Gentle movement, when appropriate and guided by medical advice
• Stress balls or hand-held grounding tools, which can help release nervous energy and provide sensory focus without physical strain
• Writing or mental check-ins to help process worries that often go unspoken
• Connection, through trusted people or shared experiences within the Pompe community

Pompe disease is rare. Support shouldn’t be.

We are here to help by offering education, resources, and connection for individuals and families navigating both the physical and emotional sides of Pompe disease.

If anxiety is something you are dealing with, you can always reach out to us through our website or on social media. We are here to listen and help.

14/11/2025

The Duke Team is excited to announce the Pompe Conferences for 2026!

We will have more information about Pediatric Conference location and clinic dates soon.

ADULT CONFERENCE

• Date: March 28th 2026

• This conference will take place fully virtually. There is NO in-person component to this meeting.

• This meeting will be recorded and available to watch for one month after the meeting date.

• Registration is not yet open. We will send a reminder and a MyChart message when it opens.

12/11/2025

WE NEED YOUR HELP!📣

Although MSAC (Medical Services Advisory Committee) have decided not to recommend Pompe to be added to Australia’s Newborn Screening program, the final decision is left in the hands of the State Health Ministers and Federal Minister for Health, Hon Mark Butler. This decision is likely to be made in early 2026.

Now, we need to campaign directly to any MPs in hopes we can gain support from State Ministers. We will be writing letters and asking for meetings. The more MPs we can connect with, the better. If you, or anyone you know, has a political contact within your state, please reach out to them or connect them with the APA committee.

We need to share our stories and prove to them what we already know, adding Pompe to Newborn Screening will save lives.

Please feel free to share this post!

25/10/2025

Thank you to everyone who attended our Australian Pompe Association 2025 Patient & Family Forum in Melbourne last weekend!

What a weekend! 🎉 What was your favorite part of the Forum?

28/09/2025

REMINDER: Our AGM will be held as part of our Australian Pompe Association 2025 Patient & Family Forum on Sunday October 19th.

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. The committee nomination form has been sent out via email, please be sure to submit your nominations ahead of the AGM.

P.S 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.

25/09/2025

Well said from our friends at Acid Maltase Deficiency Association - AMDA - Every little bit of research brings more hope!

Throwback to 1963, when a big “aha!” moment changed the story of Pompe forever.

Up until then, doctors knew Pompe meant glycogen piling up in muscles — but why it happened was a mystery. Then Belgian scientist Henri-Géry Hers discovered the missing piece: a tiny enzyme called acid α-glucosidase (GAA).
That one discovery flipped the script. Pompe became the first recognized lysosomal storage disorder, and it planted the seed for treatments like today’s enzyme replacement therapy.

👉 Why does this matter? Because every breakthrough — from Hers’s enzyme discovery in 1963 to the therapies we have now and the ones still being developed — comes from scientists and researchers who dedicate their lives to pushing knowledge forward. Their work has shaped the past, the present, and the future for everyone in the Pompe community.

💚❤️ Here’s to the researchers, past and present, whose curiosity and persistence keep hope alive.

14/09/2025

Our 2025 Forum Sub-Committee met again on Saturday. With only a month to go, the day was filled with finalising all the moving pieces for the conference (as well as some scenic scooter rides visiting Leanne's horses)! The final agenda and information will be emailed out within the next few weeks.

Are you excited to attend our Australian Pompe Association 2025 Patient & Family Forum?