Prader-Willi syndrome – I will never forget the first time I read about it and was struck by its unimaginable cruelty. It was beyond belief. Prader-Willi syndrome affects every aspect of a person's wellbeing - physical, intellectual and emotional. The reality of living with Prader-Willi can be heartbreaking as families struggle to cope with complex needs, severe symptoms and a lack of understanding and treatments. Life can be bleak.
I believe wholeheartedly there is reason for hope.
Last year, I founded the Prader-Willi Research Foundation of Australia (PWRFA) with a mission to improve clinical outcomes and deliver life-transforming treatments for people living with this terrible syndrome.
I had to.
As I began to investigate what my daughter’s future could be, scientists told me the gene technologies now available give us unprecedented hope to change life with Prader-Willi as we now have opportunity to target the underlying genetic mechanisms. Furthermore, work done in mouse models of other syndromes has found the brain catches up on development. We don’t know yet what will happen in Prader-Willi but I do know that it’s worth finding out.
I also learned that the most progress in treating a rare condition is made where families unite and mobilise. Take cystic fibrosis. Families have worked hard to drive research and advocate for their children and as a result life expectancy has gone from 12 years old living on 60 pills per day to 40 year old people who have families and work and may take just 2 pills per day. Families working together transformed the futures of their children.
The last thing I learned is there is a huge appetite among scientists, clinicians and others to help. I have been overwhelmed by the caliber of people who have dedicated themselves to PWRFA. Scientists from the very best research institutes in Australia and of course, our dedicated and hardworking Board members who simply believe that no one should have to endure a condition like Prader-Willi.
We take hope from the words of scientists like Associate Professor Jeff Craig who says, "the expertise and will are there to find a treatment: all we need are the funds". We take hope from the enthusiasm shown by the Prader-Willi community, researchers and clinicians to work together to change lives. We take hope from your support which has helped us assemble an excellent and experienced Board of directors chaired by Dr Ian Watt AC, an advisory committee with scientists who have the skills needed to direct our research program, and a small team of committed and hardworking volunteers.
Thank you for your support and willingness to change the lives of people living with Prader-Willi syndrome. It's a pleasure to provide you with a glimpse of the progress we've made so far.
Kathlene Jones, CEO and founder
Our research plan to change the clinical outcomes and treatments
for people with Prader-Willi syndrome
We've assembled a scientific advisory council comprised of a wonderful group of researchers with expertise across a variety of disciplines. Together with our board, we've set goals for our next year which include:
Investing in a project to activate the maternal genes on the Prader-Willi region of chromosome 15
Establishing a national register for people with Prader-Willi syndrome, working together with PWSAA and FPWR.
Holding a workshop to identify the best health care model for Prader-Willi, particularly addressing the dispersed nature of our community and the need for dedicated expertise in Australia. There will be a number of spaces for families to participate so please send your interest to firstname.lastname@example.org
Funding a clinician to provide clinical care and undertake research on Prader-Willi syndrome. We know that the best clinical care happens where research does. This position will be a huge step forward for the Australian families living with Prader-Willi.
Building on the success of our well-attended launch events held at Parliament House NSW and Senate SHJ in Melbourne by continuing to engage with government, philanthropists and interested corporate parties to raise awareness of the need for research into Prader-Willi.
Providing online places for people with Prader-Willi syndrome, their families, clinicians and researchers to interact. We've already started a popular series of blog posts "Meet the Scientist" and have a rapidly growing social media presence on Facebook, Twitter and LinkedIn which are opening the lines of communication between these groups.
The lives you're changing
A huge thank you to everyone who has contributed to the Prader-Willi Research Foundation of Australia in ways both large and small. Our particular thanks go to:
Research institutions: The University of Melbourne, Murdoch Children's Research Institute, The Royal Children's Hospital (Vic), IBM Australia, The Florey Institute for Neuroscience and Mental Health
Supporters: SenateSHJ, Australia Post, Global Access Partners, Charles Sitch, Melanie Carew
Families: Brendan and Melissa Fowles, Matt and Amanda Johnson and Anthony Boulton for the amazing cattle auctions, Charlie and Connie Trenchard, Margaret Brown, Jacqui Cook, Peter Campbell, Melissa Pryor for her orange hair challenge, Louise Charter and Adrian Paul for their dedicated running and Peter Fritz AM and his family.
The only way we can change life with Prader-Willi syndrome is to show that as a community we are committed, we care and we believe research will make a difference.