The Australian STXBP1 Foundation is a parent-led advocacy organisation, leading the Charge for a Cure to epileptic encephalopathies and related neurodevelopmental disorders caused by changes in the STXBP1 gene. We are comprised of a diverse team of families and their supports, scientists and medical professionals dedicated to ending STXBP1 disorders. In fostering partnerships with physicians, researchers, and other foundations, we share learnings and efficiencies to increase awareness of this rare, genetic disorder and identify therapeutic strategies. We believe that through our work, we are accelerating the development of improved therapies and ultimately ending STXBP1 encephalopathy. Our international STXBP1 family expands, with families of newly diagnosed patients joining Facebook groups on a weekly basis. We will only continue to grow our numbers as more patients have access to genetic testing.
Our aims
- Fund and drive research to accelerate the discovery of a cure
- Provide families with tools to help them understand the disease and how to get involved
- Advocate to improve early detection and better health outcomes
- Foster activism to help change policies in favour of orphan diseases
- Improve the lives of our STXBP1 family
Our values
Innovation
We believe that knowledge is a powerful tool for innovation. Whether it’s researchers seeking new methods of treatment, healthcare professionals looking to improve care, or families who want to improve the quality of life of their child, continuous innovation drives progress.
Strength
We are strongest when we are united — both the parent and scientific communities working together to better the lives of those affected by STXBP1 disorder.
Determination
Our kids show us their determination every day in their fight to achieve basic skills. We, as parents, will not end our fight until every person diagnosed with STXBP1 is able to live without the devastating effects of the disorder.