This Sunday, June 5, Brussels residents Peter and Jennifer Sharman Koh have organized a walk One SMALL Step for Prader-Willi Syndrome, in Parc Duden, Brussels which will also feature musical and other entertainments to raise funds for the Foundation for Prader-Willi Research (FPWR).
Prader-Willi syndrome is a genetic disorder that occurs in approximately one out of every 15,000 births, affecting males and females with equal frequency and is recognized as the most common genetic cause of life-threatening childhood obesity.
First described by Swiss doctors Andrea Prader, Alexis Labhart and Heinrich Willi in 1956, based on the clinical characteristics of nine children they examined, the common characteristics of PWS defined in the initial report included 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 and intellectual disability. In recent years, the syndrome has been genetically characterized as an abnormality of chromosome 15, and definitive diagnosis is now based on genetic testing.
The symptoms of Prader-Willi syndrome are thought to be caused by dysfunction of the portion of the brain called the hypothalamus. The hypothalamus plays a crucial role in many bodily functions, including hunger and satiety. Although hypothalamic dysfunction is believed to lead to the symptoms of PWS, it is unclear how the genetic abnormality causes hypothalamic dysfunction.
Jennifer and Peter have a very personal reason for their support, their daughter, Josephine, was born in Brussels in February last year and was diagnosed with PWS at only five weeks old. She began growth hormone therapy when at six months, and has been seeing a specialist in the US since February this year.
All proceeds from the One SMALL Step walks go to fund the Prader-Willi Syndrome Research Plan, which has been jointly created by FPWR and Prader-Willi Association USA (PWSAUSA). If you would like to learn more about PWS or register for the walk (there’s still time), go to the website of the Belgian association www.prader-willi.be, visit www.fpwr.org and www.pwsausa.org/syndrome/index.htm, or contact Peter or Jennifer by email at onesmallstep.bruxelles@gmail.com. Jennifer is also available on T. +32 (0)495 268 698.
