The Australian Pompe Association welcomes the proposed expansion of newborn screening announced by the Federal Government. The Association proposes that Pompe disease be included in this updated program as a matter of urgency.
The Association would like to see Pompe, and other applicable Lysosomal diseases routinely screened for at birth in Australia.
Evidence from other jurisdictions indicates that newborn screening enables timely detection and treatment of Infant-Onset Pompe Disease (IOPD), leading to improved survival, better quality of life, less reliance on ventilation and earlier independent walking.1-3
In short, the inclusion of Pompe on the national newborn screening program has the potential to save the lives of Australian babies and the tragedy it brings to many families.
The Australian Pompe Association advocates for these changes because;
The lives of Australian babies born with Infant Onset Pompe Disease are likely to be saved by the addition of Pompe to the National Newborn Screening program.
The diagnostic odyssey for Late-Onset Pompe Patients will be significantly reduced by the inclusion of Pompe disease on the National Newborn Screening program.
Newborn screening will enable families to make informed decisions about family planning and potentially lead to a reduction in the incidence of Pompe disease in the community.
Approximately three babies are born each year with IOPD and six are born with Late-Onset Pompe Disease (LOPD). Overseas studies indicate that newborn screening enables timely treatment leading to better outcomes for those with both forms of the condition.1,4
LOPD is commonly detected and treated many years after symptom onset and often after irreversible muscle damage has occurred. Newborn screening for Pompe disease in Australia would enable accurate diagnosis, monitoring and timely treatment for LOPD to occur prior to muscle function damage.4,5
The Federal Government’s commitment to a consistent, nationwide program for newborn screening will also resolve wide variations in time to diagnosis and treatment across States and Territories, as well as metropolitan, regional and rural areas.
15 сен 2024
