Infantile Pompe Disease

Early-onset (or Classic infantile Pompe disease) is the result of complete or near-complete deficiency of the enzyme alpha-glucosidase.

Symptoms begin in the first months of life, with feeding problems, poor weight gain, muscle weakness, floppiness, and head lag.

Respiratory difficulties are often complicated by lung infections. The heart is grossly enlarged. More than half of all infants with Pompe disease also have enlarged tongues.

Without treatment within a few days of birth, most babies with Pompe disease die from cardiac or respiratory complications before their first birthday.

The main focus of the Australia Pompe Association is to be a support to all patients, carers and families. Parents with infants diagnosed with Classic and Non-Classic Infantile Pompe Disease, especially need our support.  

The parent support persons of the Australian Pompe Association are:

Maddy Collicoat – Melbourne

Vice President

Infantile Pompe support for parents



Jenna Primmer

Nate’s Mum & Infantile Pompe support for parents

T: 0417 529 412


Duke University Pediatric Conference

Due to COVID-19, Duke University’s plans for the annual Pompe Conference have been changed to an online platform. We are excited to announce the Virtual Pediatric Pompe Conference will be held August 7-8, 2020.

This is a great opportunity for Australian parents to attend this conference without the need and expense of travelling to the USA.

The conference will feature a Friday night social including a talent show beginning at 6:30 pm ET (US). Saturday we will begin at 11 am ET (US) with remarks from Dr Kishnani and Dr Koeberl followed by two breakout sessions.

They will also have a Q&A session. Send questions you have to them via email We plan to conclude by 3:00 pm ET(US).

Please use the link below to complete the registration. Please note: you will need to register to attend the webinar. Once registered, an invitation (link) will be sent about a week before the conference.

We hope you will join them!

Link to register:

The Australian Pompe association is a not for profit organisation registered with the Australian Charities and Not for Profit Commission (ACNC) and has deducible gift recipient status.

Please help us to continue our aim to bring Pompe Patients, carers & families together.

“Together we are strong”