Prader-Willi Syndrome: gateway to understanding obesity and mental illness

The Prader-Willi Syndrome is a rare genetic condition affecting the whole of a person physically, intellectually and emotionally. Kathlene Jones, whose daughter was born with the syndrome, explains why research into Prader-Willi could potentially change lives of all individuals struggling with obesity, anxiety and other mental illnesses.

It’s a terrible name – perhaps even a bit odd – but the description of this condition is so awful that you no sooner get started and people switch off. It’s too awful to bear. But I ask you sincerely to keep reading and to gain some insight into Prader-Willi Syndrome.

My interest is personal. I established the Prader-Willi Research Foundation of Australia in 2015 after my daughter Chloe was born with the syndrome. In the first 18 months of her life, she had at least 200 medical and therapy appointments and 13 hospital admissions. She continues to see:

• a developmental medicine paediatrician,
• an endocrinologist,
• an orthopedic surgeon,
• an ophthalmologist,
• a respiratory and sleep specialist,
• a nutritionist,
• two physiotherapists,
• three occupational therapists,
• a speech therapist, and
• a general practitioner

Perhaps already you can see that Prader-Willi Syndrome affects the whole of a person. No part of the body is unaffected – it’s physical, intellectual, and emotional – it’s all embracing and it is cruel. Moreover, nobody in the household escapes unscathed. There is no cure. It is a whole-of-life condition requiring around-the-clock care.

Following my daughter’s diagnosis, I established the Prader-Willi Research Foundation in 2015 and, for various reasons, it is a difficult cause to promote. It’s not ‘sexy’ like some other charities, it’s ugly. There aren’t many sufferers so other conditions appear to be more deserving of the charity dollar. I’ll come back to that.

Prader-Willi is a non-inherited genetic condition caused by the deletion of or lack of several genes on chromosome 15. It is rare, affecting perhaps 1500 Australian families, and it can happen to anyone.

But, despite the rarity, it seems as though research into Prader-Willi could open insights into a wide variety of other conditions including obesity. This is because Prader-Willi sufferers experience so many symptoms, for instance, a lack of satiety – i.e. no feeling of fullness after eating – that, as a consequence, can lead to over-eating to the point of it becoming deadly. Coming to grips with that Prader-Willi symptom might also yield clues to obesity while addressing other symptoms might well lead to treating autism, anxiety and depression and other mental and physical illnesses, even cancer.

The symptoms are so numerous and the impacts of Prader-Willi on an individual so all-encompassing there is huge scope for research into this area to cast a wide net of beneficial outcomes for people who have been diagnosed with a range of other conditions and illnesses.

The scientists and clinicians believe the ability to change the lives of families living with Prader-Willi Syndrome is tantalisingly close, and achieving that may well unlock insights into so much else that afflicts so many people. For that reason alone, research into this Syndrome deserves recognition beyond its rarity.

I’m told the expertise and will is present in Australia and, of course, there is a community of engaged and interested families waiting to be part of the research.

I want our newly formed Foundation to fund research that will change lives, not just of people living with Prader-Willi Syndrome, but all individuals struggling with obesity, anxiety and other mental illnesses. We welcome and would be very grateful for your support.