What living life with PWS is like
PWS is a complex condition caused by an anomoly on chromosome 15 and attacks the body's ability to regulate itself. People with PWS are typically very loving and affectionate and work very hard to do simple things like walking and riding a bike. They live with physical and intellectual disability, challenging behaviours and poor emotional regulation and numerous medical conditions, including a relentless hunger. They long for a typical life - to live independently, a partner, a job, a family and to STOP feeling hungry.
Modern genetic research offers more hope of a treatment than ever before. Critical, when there is only 1 treatment available for some PWS symptoms at the moment.
We need to find treatments
Research is critically underfunded. We've identified about $300,000 of Australian money going into research related to PWS annually. That's nothing. Yet around 1500 families are affected - and their wellbeing is worse than for any other developmental disability (Uni Sydney 20 year study).
Here’s what PWRFA are doing
PWRFA is raising awareness of PWS across critical sectors, including government, pharmaceutical & biotechnology, academic research and in clinical settings. Our current program of work includes:
- Working towards a PWS Registry that will best meet the needs of Australians with PWS.
- Engaging with leading local and international researchers, biotechnology and pharmaceutical companies to attract, support and promote clinical trials, thereby enabling early access to break-through treatments for Australians with PWS.
- Developing a novel and innovative program of research to target the underlying genetic cause of PWS.
- Currently, we are co-funding an epigenetic research project run by Associate Professor Marnie Blewitt at the Walter and Eliza Hall Institute that is investigating the potential of targeting the epigenetic regulator SMCHD1 to treat PWS
- Working with clinicians, hospitals and government to put research at the heart of patient care through the development of a health care model and plans to engage a PWS clinical fellow.
You can join us
If you live in Victoria, NSW, WA, QLD, SA, ACT or overseas, donate to help us achieve our research goals for PWS families today!
We cannot make change without support!
You are part of changing lives for the current generation of children living with PWS