Prader-Willi syndrome is a rare, non-inherited, genetic disorder that occurs from missing or silent genes in the 15th chromosome. It is the most common genetic cause of childhood obesity. The rate of occurrence of Prader-Willi is one in 15,000 births which makes it classified as so rare. Despite the classifications, Prader-Willi has and continues to affect so many families. I myself, had no idea what this syndrome was until I met someone who had it.
What exactly is Prader-Willi you might ask. That exact same question came to mind when I first heard of the syndrome. At birth, the child already has weak muscle tone, difficulties feeding, as well as developmental delays and poor growth. Most cases occur during the time when egg and sperm cells reproduce or in early embryonic development. At this time the 15th chromosome is deleted. Once the individual reaches their childhood years, they develop an unstable appetite. The child never feels full when eating and will constantly eat, which leads to hyperphagia. Hyperphagia is classified as chronic overeating. Obesity also becomes an issue. As with any other situation, the problem of obesity leads to diabetes more often than not. This causes more health issues for someone with Prader-Willi. Along with overeating and weight gain, other symptoms include intellectual disabilities, behavioral issues, speech problems, sleep disorders, scoliosis, delayed motor development, poor growth and poor physical development.
This past year I met Karen Forlenzo, whose daughter Brittany has Prader-Willi. Karen explained that it can be tough at times. Brittany’s condition has been hard on their family. Karen has everything that contains edible items in her home locked, and despite this, the family still needs to be careful of what is left around because Brittany will eat anything that she thinks is food, even glue. She will eat out of a garbage can if she is not being watched. “Due to Brittany feeling she is not getting enough food, she will seek it out and then throw a bad tantrum,” Karen said. Brittany’s hyperphagia comes into play when she feels she is not having enough to eat. Brittany is only able to consume 800 calories a day, so it is difficult to monitor everything she eats. Everything has to be measured out that she eats and everything that she is served is in smaller containers. Another struggle Brittany faces due to Prader-Willi is an extremely high pain tolerance. For example, she doesn't realize how hot a bowl of soup or cup of coffee can be, leading to injury.
However, Brittany does not let her condition stop her. She has a job of her own working on a farm with animals in Bethlehem, Connecticut, and she volunteers on a horse farm on the weekends. She enjoys being in the company of other people and mainly loves being a part of everything that is going on. She is extremely friendly, outgoing and loves to meet people. Brittany loves joking and teasing. She has a beautiful smile. She does not let her condition set her apart from anyone else and Karen does a great job as a mother giving Brittany the support she needs as well as running a family and keeping everyone in check. The Forlenzos are still one close knit family and so thankful for Brittany keeping them on their toes everyday.
There is no cure for Prader-Willi syndrome, only treatments to help reduce the severity of the individual’s case. There are special needs programs and therapies for those with the syndrome and their families. Along with this, special precautions are taken in the home, workplace and environment of the individual; locking of food cabinets and making sure garbages are empty are just some of the few precautions that are taken. At this point in time, all individuals and their families can do is take Prader-Willi day by day, and Brittany and Karen do that with ease. They truly are both inspirations. “God only sends you what you can handle. Some days I think he forgets to put a hold on my mail. Brittany has changed my life in so many wonderful ways. Life is what you make of it. Laugh and smile everyday," said Karen Forlenzo.
