The Dup15q Alliance in the US currently runs bi-annual family conferences which are an opportunity for families from around the world to connect, and to hear from medical professionals at the forefront of research and development of therapies for Dup15q. We hope to hold our first national conference within two years to make it easier for Australian families to hear first-hand information from these same professionals.
PROJECTS & EVENTS
NEWBORN BLOODSPOT SCREENING (NBBS)
Dup15q Australia has partnered with the Murdoch Childrens Research Institute, Fragile X, Foundation for Angelman Syndrome Therapies Australia and Prader-Willi Syndrome Australia to develop a heel prick test for babies born in Australia. Dup15q Australia has committed $15,000 over a three-year period to help fund the "health economics" component of this program. This study will assist MCRI to demonstrate the wider economic benefits of early diagnosis of Dup15q through NBBS. To this end, we are asking families to take part in this study to share their experience of the syndrome. You can find more information in the downloads section of this website.
Our involvement in this study would not have been possible without the financial support of the Dup15q Alliance, the peak body based in New York.
If you are interested in finding out more about this study, please contact us.
Due to the rarity of Chromosome 15q Duplication Syndrome, it is not uncommon for medical professionals to be unfamiliar with the condition. Diagnosis can therefore lead to feelings of isolation and uncertainty for families. Currently in Australia, there is a Families Only Facebook page where parents can meet and share information and experiences in a friendly, open and supportive environment. We encourage any families who haven't already joined this page to contact us for further information.
We plan to connect families through the co-ordination of regular family days on a state-by-state basis.
If you would like to be involved in assisting with the co-ordination of these events, contact us.