Running For Research ♥ Prader-Willi Syndrome
A Running Fundraiser Benefiting Research on Prader-Willi Syndrome at the University of Florida
In this awareness series, Running for Research founder Kelly Guillou lays out facts about PWS and how they relate to her own experience raising Clementine, her daughter with PWS.
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 …
Today is the second day of PWS Awareness month. Fact #2: PWS is caused by a lack of active genetic material in a particular region of chromosome 15 (15q11-q13). Normally, individuals inherit one copy of chromosome 15 from their mother and one from their father. The genes in the PWS region are normally only active …
May has been designated as Prader-Willi Syndrome Awareness Month. As promised, I will begin my daily posts regarding PWS and what this syndrome has meant for my youngest daughter Clementine and also the rest of our family. FACT #1:Prader Willi Syndrome ( PWS ) is a rare genetic disorder affecting approximately 1 in every 15,000 …