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.
