Pompe Disease – Diagnosis

Diagnosing Pompe disease has become much simpler than it used to be.

Professor John Hopwood and his team, from the Lysosomal Diseases Research Unit, at the Women’s and Children’s Hospital in Adelaide, Australia, developed a diagnostic test that uses a dried blood spot. This uses a drop of blood – collected from a finger prick – and dried on a paper card. This card can then be posted to the diagnostic laboratory and is now in common use throughout the country.

Your local GP or specialist can order this test by contacting Sanofi Genzyme and requesting a DBS kit.

Some charges may apply that are not covered by Medicare.

The ‘infantile’ form of Pompe disease may progress very quickly and without treatment, these babies may not live longer than twelve months. Treatment is available and is government funded in Australia for all Australians diagnosed with Pompe disease, subject to treatment guidelines.

If you have been diagnosed with Pompe Disease please contact a member of the Australian Pompe Association. There are members all around Australia of varied age groups that understand what you are going through and can offer valuable information and tremendous support to you and your family.

“We may be rare, but together we are strong”

IMPORTANT: This information is intended to provide general information in regard to the matter covered. It is provided as a public service by the Australian Pompe Association. Medicine is constantly changing and humane error and changes in practice make it impossible to certify the accuracy of such complex material. Confirmation of this information from your doctor or medical practitioner is required.