Prader-Willi Syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children.  It is a complex genetic disorder most commonly related to problems along chromosome 15.  The genes lacking in people with Prader-Willi Syndrome have a major role in the regulation of appetite and metabolic levels, cognitive functions and behavior patterns. 

The following statement by PWS research pioneer Dr. Hans Zellweger objectively expresses the seriousness of the syndrome:

For parents of children with PWS it is the words “life-long and life threatening” that strike terror in their hearts.

The two hallmark characteristics of Prader-Willi Syndrome are:

• Extraordinarily low metabolic rates
• Chronic, insatiable feeling of hunger. 

These two factors lead to excessive eating and life threatening obesity.  In addition, the genetic condition typically causes low muscle tone, cognitive disabilities, incomplete sexual development, obsessive compulsive disorder and problem behaviors.

PWS causes organic damage to the hypothalamus, which controls appetite and metabolism.  It also causes damage to  other areas of the brain that control cognition and behavior.  This damage is irreversible. Historically, treatments with pharmacotherapy or behavior modification techniques have not been effective.  Only strident, 24/7 management controls  keep people with PWS from  tragic, premature deaths due to morbid obesity.  In recent years, some progress has been made toward development of effective treatment protocols, but there are still mountainous obstacles to a cure. 

The incidence rate of Prader-Willi Syndrome is estimated to be one in 10,000 to 12,000. Outlined below is a description of Prader-Willi Syndrome, followed by examples of the devastating effects of the syndrome.

The Infant: Typically born pre-mature, with low-birth weight, newborns quickly experience “failure to thrive”.  Failure to thrive can claim an infant’s  life if it is not responded to rapidly  and appropriately  by  attending medical staff.  Infants spend the first few weeks of life in neo-natal intensive care units and are discharged home with complicated instructions.  Because of the inability to properly suck from a nipple, most infants cannot breast feed or take food from a bottle. Tube feeding is generally required for  several weeks or even months. Respiratory problems require apnea monitors and oxygen therapy. 

The Child: Developmental delays in the toddler require constant occupational, physical and speech therapies.  At approximately two years of age a child with the syndrome begins to develop an insatiable appetite. 

The child will continue his/her drive to eat and seek food regardless of the amount consumed.  This drive is not satiated with food.  Unless some type of significant intervention is provided, the child will become extremely obese.  The two following medical record excerpts illustrate the suffering caused by PWS:

• Four years old, weighing 95 pounds is in ICU on “deaths doorstep.”  The obesity has caused upper airway restriction and an enlarged heart.
• Mother found her three-year-old daughter dead.  The autopsy revealed she had PWS.  Death was due to weight related obstructive sleep apnea and a fatty liver.

The Adolescent: Extreme obesity leads to life threatening health problems and social ridicule in the older child. 

For the parents, survival often becomes the name of the game.  Kitchens are locked tight and guarded with vigilance.  Mealtimes are a constant struggle where desserts are unheard of and the child with PWS intently watches everything his/her parents and siblings eat. Meals end with the inevitable, “It’s not fair…!” and the beginning of a tantrum.

Equally significant are the emotional issues that arise, particularly as the child ages into adolescence.  Such problems as emotional outbursts and temper tantrums increasingly alienate the child from their family and peers.  In addition, the child with Prader-Willi usually has speech and communication difficulties that  increase their frustration and contribute to social withdrawal. 

The Adult: Largely due to a lack of appetite control and behavioral problems, adults with Prader-Willi Syndrome are unable to live independent lives.  Holding down jobs, even with the constant supervision of one-to-one aides, becomes impossible.  The runaway appetite and resulting behavior and social issues doom an adult with PWS to a lifetime of

controlled environments and activities.  In comparison to the cost of caring for and supervising persons with all disabilities, the annual cost of  care and supervision of an individual with PWS is among the highest, between$75,000 and $150,000 per year.  The high cost of PWS care is due to the unique nature of the behavioral problems and appetite control issues.  The following case reports highlight the need for extreme levels of supervision and care:

• A young man, 25 years old, who had been a poster person of PWS success, recently died from complications of a ruptured stomach.  He had gone to a baseball game with the staff from his group home and excused himself to go to the bathroom.  Using money he had stolen, he bought and consumed a huge amount of food before returning to his seat.  Later that night after complaining of stomach pain he was admitted to the hospital and died hours later.
• A 33 year-old, 390 pound man was hospitalized after swallowing a potato whole. He was trying to sneak food and was afraid he would be caught.   The potato was surgically removed, the young man remained on a  respirator for four days before he died.

Only with constant care and supervision from infancy and early childhood through adult life can a person with Prader-Willi Syndrome avoid a lifetime of chronic health, social crises and premature death.  Based upon a review of PWS-related deaths by  the Prader-Willi Syndrome Association (USA) for the years 2001 through 2003, the average age of death was 27-years-old.