But endless pizza isn’t as glamorous as it sounds.
Imagine eating 10 pizzas in a row — obviously not a very healthy choice, and most people wouldn’t be able to physically do it. However, some people with a very rare genetic disorder called Prader-Willi syndrome have a condition that renders them unable to feel full, often leading to chronic overeating and obesity.
According to the Genetics Home Reference, an estimated 1 in 10,000 to 30,000 people worldwide suffer from the disorder.
The phenomenon begins in childhood, and the affected individuals develop an insatiable appetite. Since the disorder can often lead to obesity, some people with Prader-Willi syndrome (PWS) also develop type 2 diabetes.
The parents of Cami, a fifteen-year-old girl with PWS, say it’s a constant struggle to monitor their daughter’s eating. On the Prader-Willi Syndrome Association’s website, they write that they have to lock their refrigerator, food pantry, and even their trash to keep Cami from accessing food at all times. “There have been times when we woke up in the morning to find our daughter in bed with empty plates and containers from leftovers that had been thrown in the trash,” they write.
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Although the disorder causes people to have insatiable appetites, food isn’t the only issue that comes with PWS. Those affected also struggle with intellectual impairment, temper outbursts, and compulsive behaviors like picking at skin. There’s also the possibility for sleep abnormalities to occur.
How is the disorder caused? People usually inherit one copy of chromosome 15 from each parent and certain genes on the chromosome are turned off in either the maternal or paternal copy. In individuals with PWS, however, neither copy of these genes is active.
About 70 percent of PWS cases occur when the paternal genes are deleted, and the genes on the maternal chromosome have been turned off. Another 25 percent of cases are the result of an individual inheriting two copies of chromosome 15 from his or her mother instead of one copy from each parent — the PWS genes on both copies become inactive. In rare cases, Prader-Willi syndrome can be caused when the genes are moved to the wrong position on the chromosome, a random mutation, or another defect that switches off the genes on the paternal chromosome.
Unfortunately, there is no current cure or treatment for PWS. As the PWS Association website puts it, PWS sufferers and their loved ones are still “hungry for a cure.”
You likely know Mayim Bialik as Dr. Amy Farrah Fowler on CBS’s The Big Bang Theory, but she also holds a Ph.D. in neuroscience, and her dissertation explored the effects of Prader-Willi Syndrome.
In a video for PWSA USA, she reveals that an individual who suffers from PWS can gain up to 20 pounds in just one weekend.
Despite the fact that there are no current cures, PWSA USA is working diligently to help the affected individuals in any way possible.
To find out more about the rare genetic disorder, check out Bialik’s video below:
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