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?
A solution to this Challenge would increase our understanding of hyperphagia and provide a potential treatment for our loved ones with PWS. As a parent with a child with special needs, all I want is for my daughter to reach her full potential and to not be limited by PWS. Finding a treatment to help eliminate or reduce the desire to eat would greatly improve her life and others with PWS.
What prompted you to post your Challenge on the InnoCentive Challenge platform?
At the Foundation for Prader-Will Research we are constantly looking for ways to accelerate research. Most of the Board members have a child with PWS so we are very motivated to develop or find treatments for our kids as soon as possible. We believe that the InnoCentive Challenge platform is one way to help accelerate research.
Childhood obesity is a critical problem in general – how might a solution to this problem benefit the larger field of research into this issue?
There was an article I read that interviewed Dr. Francis Collins, Director of the NIH. He was asked why we should focus on rare diseases when they affect so few people. I will always remember his answer. He said, “If you or your family were affected, it wouldn’t be rare for you. And the study of rare diseases has taught us more than most people realize. Furthermore, the opportunities to capitalize on what we have learned so far have never been greater. If you care at all about biology and about understanding medicine, rare diseases are critical.”
I strongly believe in this message. I think one of the reasons you can learn so much from studying rare diseases is that often these rare diseases have extreme characteristics or symptoms that also apply to the general population. I'm an engineer by training and the easiest way to understand a problem is too look at the extreme version of that problem. It often allows you to more easily see the true cause of the problem. A milder form of the problem increases the likelihood of missing or overloading the cause because the signals are not as strong.
People with PWS have the extreme characteristics that lead to obesity. They have very slow metabolism and insatiable appetite. Left unchecked, a person with PWS will become obese. By looking more closely at PWS and determining the underlining mechanisms of hyperphagia, this understanding could be applied to the general population.
The Foundation for Prader-Willi Research has been very active in raising research funds for PWS. Can you tell us about some of those efforts?
The Foundation for Prader-Willi Research was established in 2003 by a small group of parents who saw the need to foster research that would help their children with Prader-Willi syndrome lead more healthy and fulfilling lives. Today, FPWR is composed of hundreds of parents, family members, researchers, and others who are interested in addressing the many issues related to PWS, including childhood obesity, developmental delays, psychiatric disorders and autism spectrum disorders.
The mission of FPWR is to eliminate the challenges of Prader-Willi syndrome through the advancement of research. High quality research will lead to more effective treatments and an eventual cure for this disorder
To date, the FPWR has committed more than $2,000,000 to support PWS-related research. Research funded by FPWR has been published in top medical journals, including Nature Neuroscience, Endocrinology, and BMC Genomics.
Is there anything you’d like our Solvers to know about your Challenge?
We are so excited to launch this Challenge with InnoCentive. If this Challenge is solved it will directly impact the lives of people with PWS. A greater understanding of hyperphagia in PWS is critical to developing or finding treatments that our loved ones so need and deserve. It’s our hope that this Challenge will lead to treatments. There is also a real possibility that any insight or treatments we learn from this Challenge can apply to the general obesity epidemic, which is one of our society’s biggest health crisis.