SHAH ALAM – A common myth about Prader–Willi Syndrome (PWS) is that those living with it are merely overeating or lacking discipline, but specialists say this could not be further from the truth.
The extreme hunger seen in PWS patients is the result of a genetic and hormonal dysfunction, highlighting why greater awareness, early management and supportive policies are essential for affected families.
Avisena Women’s and Children’s Specialist Hospital consultant paediatrician Dr Varughese Koshy said PWS remains widely misunderstood despite being one of the world’s rarest genetic disorders.
“Prader–Willi Syndrome is a complex genetic condition primarily caused by the loss or microdeletion of genes on the paternally inherited chromosome 15,” he said when contacted.
He said early symptoms appear in infancy, including poor muscle tone, weak sucking, feeding difficulties and developmental delay. As children grow, symptoms shift into excessive appetite, rapid weight gain, short stature, behavioural challenges and learning difficulties.
Diagnosis is confirmed through specialised chromosomal studies, particularly genetic testing that detects abnormalities on chromosome 15.
Not inherited, but life-long
Dr Varughese noted that PWS occurs spontaneously and is rarely inherited.
“PWS is considered rare, affecting approximately one in fifteen thousand to thirty thousand newborns. It occurs in males and females equally and is seen across all races,” he added.
The condition, he said, impacts both patients and families, with many facing long-term medical, financial and emotional pressures.
Support groups such as the Prader–Willi Syndrome Association Malaysia often play a crucial role in connecting families and providing guidance.
Management must begin early and involve multiple specialists
He emphasised that treatment focuses on managing symptoms and preventing complications.
“Early-life feeding difficulties require monitoring and sometimes specialised feeding techniques. As children grow older, strict dietary management and regular physical activity become crucial,” he said.
Growth hormone therapy is commonly recommended to support height development, improve muscle tone and reduce body fat. Long-term care often requires a multidisciplinary team involving paediatricians, endocrinologists, dietitians, physiotherapists and psychologists.
Many individuals with PWS experience intellectual disabilities, behavioural challenges and difficulty regulating appetite, making close supervision essential.
“Daily challenges may include emotional regulation, independence and weight management.
“Healthcare professionals play a major role in raising awareness, providing comprehensive care and guiding families through the complexities of the condition,” he said.
Research into gene therapy and targeted molecular treatments continues to expand and offers hope for future solutions.
Because children may also face feeding and swallowing difficulties, he said caregivers should be trained to manage choking episodes. Structured dietary planning, consistent exercise routines and emotional support are all key to improving long-term outcomes.
Dr Varughese added that misconceptions remain widespread.
“A common misconception is that individuals with PWS are simply overeating or being gluttonous. Their excessive hunger stems from a genetic and hormonal imbalance. Another misconception is that lifestyle causes the condition, when in fact it is purely genetic,” he added.
Despite challenges, he said many individuals with PWS can lead fulfilling lives with the right interventions and structured routines.
A rare disease community that refuses to be invisible
In the meantime, Persatuan Sindrom Prader–Willi Malaysia president Azhar Talib said the biggest challenge remains public awareness, given how rare the condition is.
“PWS is one of the seven thousand known rare diseases in the world, occurring in about one in every fifteen thousand births. In Malaysia, any condition that occurs in fewer than one in four thousand births is considered a rare disease,” he told Sinar Daily.
He emphasised that the association began in 2016 with only 30 families, but now has 202 registered families nationwide, including Sabah and Sarawak. The group has also helped co-host the Asia Pacific Conference twice, with the fifth edition in 2022 attracting participants from 22 countries.
Azhar said rare disease advocacy long lacked structure in Malaysia.
“Previously, rare disease advocacy was neglected because there was no formal policy. But, Alhamdulillah, the Health Ministry launched the National Rare Disease Policy in August, this year. After nearly fifteen years of effort, we finally have a framework,” he added.
Azhar, who has a 25-year-old daughter living with PWS said the early years were marked by limited access to reliable information.
“When she was born in the year 2000, information was extremely limited. Malaysia only had one internet provider, Jaring. In a week, I could only print three or four pages of information. Today, everything is at our fingertips, you can even ask ChatGPT and get comprehensive answers,” he said.
He highlighted that true progress depends on all six stakeholders working together: patients and families, medical professionals, allied health practitioners, higher learning institutions, researchers and pharmaceutical groups.
For many rare diseases, he said the cost of treatment, especially for orphan drugs, is a major barrier.
“The demand is small, but the need is great. We must take a holistic, lifelong approach — from womb to tomb. It is not only about medical care; it is about ensuring quality of life, preparing them for independent living and creating an inclusive society,” he said.
Azhar stressed that the community is not seeking sympathy.
“What we hope for is empathy, for people to understand our challenges and recognise the importance of inclusion.”
He stressed that awareness remains difficult due to small numbers and low visibility.
“Everything we have achieved comes from the strength and persistence of patient families, caregivers and the small circle of people who truly understand these conditions. We want to ensure no one in our community is left behind,” he said.