Seeker Spotlight: Foundation for Prader-Willi Research
We recently announced a Challenge to advance research in childhood obesity with the Foundation for Prader-Willi Research. The Challenge is very personal to the Foundation, which is composed of parents of children with Prader-Willi Syndrome. A solution to this Challenge will have a direct and immediate impact on thousands of children who are currently suffering from the effects of the disorder. We talked to Shawn about the Challenge, his personal experience with Prader-Willi Syndrome and the overall benefit the Challenge solution will have on the field of obesity research.
Hi Shawn. Prader-Willi Syndrome (PWS) is a relatively rare disorder that may be unfamiliar to many of our Solvers. Can you tell us a bit about it? What are the biggest challenges faced by children with PWS and their families?
Prader-Willi syndrome is a genetic disorder that occurs in approximately one out of every 20,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as the most common genetic cause of life-threatening childhood obesity. The syndrome is genetically characterized as an abnormality of chromosome 15.
Common characteristics of PWS include small hands and feet, abnormal growth and body composition (small stature, very low lean body mass and early onset childhood obesity), hypotonia (weak muscles) at birth, insatiable hunger, extreme obesity, intellectual disability and mental illness.
The symptoms of Prader-Willi syndrome are thought to be caused by dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, including hunger and satiety, temperature and pain regulation, sleep-wake balance, fluid balance, emotions, and fertility
The biggest challenge for kids with PWS is the extreme desire to eat. This insatiable hunger greatly reduces their quality of life and impacts areas such as learning and social interaction. We’ve all had times in our lives where we missed a meal; maybe you missed a lunch because you needed to make a deadline at work. As the hunger continues and that feeling of starvation increases, all you can think about is getting your next meal. It’s difficult to think of anything but food. Image having that feeling of hunger all day and for the rest of your life, no matter how much you eat. That is what our kids face.
The stress level for a family with a child who has PWS is very high. A big part of the stress is the constant supervision required to keep our kids safe from food. Because they have an inability to regulate their food intake, this task falls on the parents and others that care for them. Parents often have to lock up their cabinets and refrigerators to manage food consumption. Unfortunately there have been many cases where a child has died because of overeating and every parent is aware of this risk. In our society food is a big part of our culture and trying to balance this while protecting our children from food is very difficult and stressful.
How has PWS affected you personally?
It was Friday, a couple of days before Mother’s Day when we got the diagnosis that Ellie (our first child) had PWS. It was the hardest piece of information I have ever received. I was completely confused and scared about what this diagnosis meant. The physical and emotional pain I felt at that moment was like nothing I had ever felt before. It’s hard to explain unless you have gone through it but when I heard the words Prader-Willi syndrome I knew our lives would never be the same. She would never be able to have children, going to college was very unlikely and she would not be able to live an independent life. Those life expectations that we take for granted were gone. You don’t really realize how important they are to you until they are gone. Life had changed.
Ellie and our family have been through a lot. She has required physical and speech therapy almost from birth to today. Things that come easily for her peers and her baby sister are difficult for her. She is almost 5 years old and as she gets older I sense that she realizes things are more difficult for her. She has OCD and autistic like behaviors. Though she is thin (because of her strict diet and daily physical activity) she is increasingly interested in food. She talks about it a lot and it’s getting worse. Food is becoming the most important thing in her life. Before it was baby dolls, now it’s pizza or birthday cakes. Almost as soon as she finishes her dinner she is asking her Mommy what’s for dinner tomorrow or when is her next meal. As a parent, hearing the words “I’m hungry” from Ellie hurts every time I hear it. And I hear it constantly throughout the day. Ellie can’t help it but it doesn’t lessen the pain because I know it’s that insatiable appetite that will prevent her from living an independent life.
What would a solution to this Challenge mean for children with PWS? (more…)
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