Our mission is to fund medical research so a cure can be found in time for children battling Sanfilippo today and those born with it tomorrow.
Sanfilippo Syndrome is a rare genetic disorder that is progressive, neurodegenerative and always fatal. It is estimated that 2,000 babies are born each year worldwide with Sanfilippo and life expectancy is just 12 – 20 years. There is currently no treatment, so a child diagnosed with this condition and their family face many challenges for which the foundation was created to address. These include limited opportunity to access emerging treatment and clinical trials; lack of up to date and accurate information; and as a rare disease there is significant isolation and lack of an accessible support network dedicated to the condition.
Since our inception in 2013 we have funded 6 research projects both in Australia and overseas. Our funding is critical as research in any field is highly competitive and grossly limited, but for rare diseases this is further exacerbated. Researchers struggle to obtain funding from traditional sources due to the relatively small patient numbers and inadequate return on commercial investment. We are directing much needed funds into critical research for a condition that until now has been largely neglected.