Prader-Willi Syndrome (PWS) is a rare genetic disorder that affects people from birth. It's named after the doctors who first described it. This syndrome can lead to various physical, mental, and behavioural challenges throughout a person's life.

Prader-Willi syndrome is caused by a problem with certain genes on chromosome 15. Normally, we inherit one set of chromosomes from each parent, but in PWS, some of these genes are missing or not functioning properly. This can result in a range of difficulties, particularly those related to appetite regulation and physical development.

Causes

The specific cause of Prader-Willi syndrome is related to genetic abnormalities on chromosome 15. These abnormalities can occur randomly or be inherited. When a person inherits the chromosome with the missing or altered genes from only one parent, it can lead to PWS.

 How does Prader-Willi syndrome affect people?

The missing or abnormal genes on chromosome 15 affect the hypothalamus, a part of the brain that plays a crucial role in regulating hunger and other basic functions. This disruption causes a constant feeling of hunger, which can lead to overeating and obesity. Additionally, individuals with PWS may face challenges in muscle tone, intellectual development, and social skills.

 Symptoms:

• Constant Hunger: Individuals with PWS often experience an insatiable appetite, which can lead to excessive eating and obesity.
• Low Muscle Tone: Weakness in muscles, known as hypotonia, is common in PWS, affecting motor skills and coordination.
• Intellectual Challenges: PWS can impact intellectual development, leading to learning difficulties and cognitive challenges.
• Behavioural Issues: People with PWS may display behavioural problems such as temper tantrums, stubbornness, and compulsive behaviours.
• Physical Characteristics: Common physical features include almond-shaped eyes, a narrow forehead, and a thin upper lip.

 Treatment:

While there is no cure for Prader-Willi syndrome, treatment focuses on managing symptoms and improving the individual's quality of life. This may include:

• Nutritional Management: Strict control of food intake is crucial to preventing obesity. Specialised diets and supervision are often necessary.
• Physical Therapy: To improve muscle tone, coordination, and overall physical well-being.
• Behavioural Interventions: Addressing behavioural challenges through therapy and support.
• Hormone Therapy: In some cases, growth hormone therapy may be recommended to improve height and muscle mass.
• Educational Support: Tailored education plans to address learning difficulties.

 A comprehensive and multidisciplinary approach involving healthcare professionals, educators, and family support is essential to providing the best care for individuals with Prader-Willi syndrome.

Some of the people who broke the glass ceiling and excelled in their chosen field despite suffering from Prader-Willi syndrome include Harvey Price, reality TV star, Chris Burke is an American actor and musician. Susan Magdalane Boyle, a Scottish singer; Jamie Brewer, an American actress and model; Sarah Gordy, a British actress; Lauren, an American actress, producer, advocate, and comedian; Zach Anner is an American comedian, actor, and writer; David Lynch is an accomplished American filmmaker and artist.