Running For Research - PWS

It is widely recognized that choking is an issue in PWS. 18% of registry participants have had a choking incident. Of these choking incidents, 50% were severe enough to use the Heimlich maneuver. In addition, concerns around choking continue well past the toddler years. When specifically looking at data for participants who have had a …

Early interventions such as OT, PT and growth hormone can improve the outcome of PWS. Data reported from the global registry indicates that babies with PWS are hitting their motor milestones earlier than previously documented. This is likely a reflection of earlier diagnosis and more infants receiving growth hormone therapy. There has not been a …

People with PWS may have an increased risk of developing dangerous blood clots. Deep vein thrombosis (DVT) happens when blood clots form in the deep veins of the legs. Those blood clots can ultimately break loose, travel through the bloodstream, and become lodged in the lungs, causing pulmonary embolism. DVT’s are the 4th leading cause …

Currently there are no treatments for the most debilitating challenges of PWS. Prader-Willi Syndrome was first described by Drs. Andrea Prader, Alexis Labhart and Heinrich Willi in 1956 based on the clinical characteristics they observed in 9 children. Sixty nine years ago. SIXTY NINE YEARS and NO CURRENT TREATMENTS! As I mentioned yesterday, only growth …

Human growth hormone is effective not only in increasing height, but also in decreasing body fat, increasing muscle mass, improving weight distribution, increasing stamina, and increasing bone mineral density in PWS. In addition to these positive effects on growth and body composition, studies suggest positive effects on development and behavior. Human Growth Hormone ( HGH) …

Behavior and mental health issues such as depression, bipolar disorder and psychosis impact many individuals with PWS. PWS is considered a ‘high risk’ population for mental illness with the rates of occurrence of delusions and psychosis higher than compared to the general population, especially for those with UPD. Clementine has UPD ( Uniparental Disomy) PWS. …

Newborns with PWS often spend days, weeks, or even months in the NICU and more than 75% of babies require a feeding tube in infancy. As I mentioned in a previous post, Clementine was taken to the NICU the day following her birth , when it became clear that she was struggling to stay awake …

Individuals with PWS usually exhibit cognitive challenges, with measured IQs ranging from low normal to moderate intellectual disability. Those with normal IQs often exhibit learning disabilities. Clementine entered the public school system at age 3. She qualified for early preschool through the Exceptional Children’s Services( formerly known as Special Education) in our county. Her first …

Fact #4: The symptoms of PWS change over time in individuals with PWS. Babies frequently are tube fed and may have failure to thrive. Symptoms of hyperphagia commonly appear sometime between the ages of 3 and 8 but are variable on onset and intensity. There are several phases involved in the development of hyperphagia. Phase …

Fact #3: PWS is recognized as the most common genetic cause of life-threatening childhood obesity. Research into PWS has implications far beyond those for our loved ones. Unlocking the key to PWS will also benefit the many people who suffer from related diseases such as childhood obesity and autism. Obesity is one of the most …