Running for Olivia & Jack
Organized by: Lauren Barrett
Event Name: 2015 DICK'S Sporting Goods Pittsburgh Marathon
EVENT DATE May 03, 2015
What is Pyruvate Dehydrogenase Complex Deficiency (PDCD)? Pyruvate dehydrogenase complex deficiency (PDCD) is an inherited inborn error of metabolism. This means that children born with this disorder can’t convert some of the food they eat into energy.
In a normal metabolic cycle, carbohydrates are broken down into energy by certain enzymes called the pyruvate dehydrogenase complex. Children with PDCD have fewer enzymes than those without the disorder, so they are less able to break down carbohydrates and sugars into energy.
This energy is used not only for children to run, play, and learn, but also for cell formation, growth, and throughout the lifetime of a cell. Without energy for the cells to maintain healthy functioning, they can not function correctly, become damaged, and possibly die. Without healthy functioning cells in all parts of the body, children with PDCD can experience poor muscle tone, neurological damage (brain cell injury, cognitive delays, and seizures), and other problems like poor feeding and lethargy.
The inability of the body to break down carbohydrates into energy produces a potentially dangerous chemical called lactic acid. High lactic acid can make symptoms worse, as well as cause low blood pressure, vomiting, high heart rate, and rapid breathing. Each child is affected a little differently, and severity levels vary from mild to fatal.
Five years ago, my baby cousin Olivia Paige was born. After months of back and forth trips to Children’s Hospital, she was diagnosed with PDCD. Since then, she has overcome so many obstacles and amazed all of her doctors!
What is Prader-Willi Syndrome (PWS)? PWS is a rare genetic disorder that happens randomly. PWS affects the productivity of the hypothalamus and causes Hyperphagia. Hyperphagia is an insatiable appetite, regardless of how much is eaten. Coupled with a slow metabolism, people with PWS do not sense that they are full while eating and cannot regulate how much they eat. Through no fault of their own, they tend to become obese and need close regulation of their physical activity and diet. Currently, there is no known medication that is proven to reduce the hunger that these children feel every day.
Last year, my best friend, Nikol, gave birth to her first son, Jack Maher. Within weeks of his birth, Jack was diagnosed with PWS. Jack has come so far in just one year and continues to amaze everyone by working harder and growing stronger every day!
On May 3rd, I am running my very first half-marathon, in honor of these brave and inspiring children. We need to raise awareness for these extremely rare and underfunded diseases. Proper funding will fuel vital research and clinical trials for PDCD and PWS, leading to better therapies, treatments and hopefully, someday, cures. Donations will go to the United Mitochondrial Disease Foundation in Pittsburgh, Pennsylvania and the Prader-Willi Foundation of New England.
Support Olivia and Jack and donate today!