The Potocki-Lupski Outreach Foundation is officially here!!
It all began in 1991, when the first child in the United States was diagnosed with Duplication 17p11.2. Very little was known at the time, so many questions, so very few answers. In 1996 the duplication was first described as a case study. It was a week long study protocol held at Baylor College of Medicine, Houston, Texas. Then in 2000, the first study of the disorder was released in the Journal of Human Genetics.
It was not until seven years later in a landmark opportunity, enough patients had been gathered to complete a comprehensive study which also provided a detailed clinical description. In 2007 the official name of Potocki-Lupski Syndrome (PTLS) was given to the duplication of 17p11.2 and was named after Drs. Lorraine Potocki and James Lupski, two key contributors to the research of this genetic syndrome. With the prediction for this diso rder to be 1 in every 20,000 children and the rapid increase in the diagnosis in children and adults due to the newest Micro Array testing, it was evident there would be a need for a formal organization.
As the mother of one of the original children diagnosed, Julie Smith-Centeno began the preparations for the organization. She brought together a highly qualified team of parents, as well as a sociologist/strategic planner, and built the board and the support team needed to for the foundation. After many long hours of paper work and three long months of waiting the organization achieved its 501(c)(3) non-profit status in November of 2012 which allowed it to receive tax deductible donations.
The foundation has been very busy raising awareness, providing speaking engagements, gathering educational material for healthcare and education professionals, offering a support line for families and caregivers, and preparing for the official launch of its new website. The organization continues to work on supporting much needed research and is extremely grateful to those who have given of their time to help in the development and operations, as well as those who have so generously donated to the cause thus far.
We proudly invite you to join us in celebrating our 501(c)(3) status and to use our new site as your primary resource and support for PTLS!
~ Julie Smith-Centeno