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 an early diagnosis and early access to treatment most babies with Infantile Onset Pompe Disease die from cardiac or respiratory complications.

A diagnosis of infantile Pompe Disease is not always a terminal diagnosis. There are many factors that affect outcomes, such as early diagnosis and early access to treatment.

Children overseas diagnosed at birth via New Born Screening and given treatment within weeks of birth are having far better outcomes. Australia is not currently testing for Pompe Disease via New Born Screening.

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

Email: vicepresident@australianpompe.org.au

Jenna Primmer

Nate’s Mum & Infantile Pompe support for parents

T: 0417 529 412

E: jenna.bree@outlook.com

A diagnosis of Infantile Onset Pompe Disease is not necessarily a terminal diagnosis. However, if you have a child with IOPD needing end of life support, talk to the Australian Pompe Association about gaining funding to access the services for the wonderful organisations below.

Request funding support here

Very Special Kids

Victoria

Very Special Kids care for children with
life-threatening conditions by providing a
children’s hospice and professional family support
services. They help approximately 900 families across
Victoria with ongoing support from diagnosis all
the way through to recovery or bereavement.

Contact : Very Special Kids | VSK

Bear Cottage

NSW

Located on Sydney’s Northern Beaches, in Manly, Bear Cottage is like a home away from home – as far removed from a hospital environment as possible. Here staff do not wear uniforms, no medical procedures are carried out in the bedrooms, the children’s rooms are designed to like a normal bedroom, and we even have a family pet, Beau, our adorable Labrador. That said, Bear Cottage is set up to provide excellence in paediatric medical care 24 hours a day, and our affiliation to The Children’s Hospital at Westmead means we have access to some of the best medical resources in the world.

Contact Bear Cottage: Contact us

Hannah’s House

At Hannah’s House they understand that caring for a child with a rare and complex illness or life-limiting condition places a great strain on family life. Families are expected to learn to do things for their child that only a registered nurse or clinically trained professional would do normally.

Hannah’s House puts the family at the centre of decision making and offers an established team of experienced nurses and allied health partners who are led by Clinical Services Manager Susan King.

Contact Hannah’s House: Contact us

Humminbird House

QLD

Hummingbird House is Queensland’s only children’s hospice. We provide short break stays, family support services, creative therapies, and care at the end of life, for children with life-limiting conditions and their families. Hummingbird House is a place where kids can be kids, families can reconnect, and precious memories can be created.

Contact Hummingbird House: Hummingbird House – Queensland’s only children’s hospice

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.