Blumenthal, of Sarasota, was most recently the director of the Healthy Families, Healthy Children and Healthy Fathers program at the Jewish Family and Children’s Services in Sarasota and has worked extensively in the rare disease and disability communities in Florida and New York.
Susan Lomas, the Foundation’s Acting Executive Director, will continue to serve as the President of the Board of Directors and chair of the Global Partners Committee.
It’s hard to believe that we are just seven months away from our 11th biennial international family conference. The conference will be held July 18-22, 2018 in Dallas Texas at the Embassy Suites DFW North. Since rooms are filling up quickly, we have a added an additional block of rooms, we have a new childcare vendor, and the planning committee continues to work on the details to create a wonderful experience for everyone who attends.
This beautiful, short video will give you a better understanding of Phelan-McDermid Syndrome and the strength, love and perseverance of the families raising a child born with this rare condition.
Since 2012, the Seaver Autism Center at the Icahn School of Medicine at Mt. Sinai has been enrolling individuals with PMS in a clinical trial of IGF-1. The findings from the first pilot study were published here. Below is an update from Dr. Alex Kolevzon, the lead investigator, reporting findings from the second pilot study.
The purpose of this registry is to consolidate information from individuals with Phelan-McDermid Syndrome into a single database, which will be utilized by researchers to understand Phelan-McDermid Syndrome better. Sharing your medical data will make a world of difference.
Our First Ever Giving 22uesday was a Huge Success! We surpassed out goal! In just 24 hours, you helped the Phelan-McDermid Syndrome Foundation raise over $50,000. Your generous donation helps the foundation spur on scientific research in the search for a cure, helps support families and raise much need awareness for an incredibly rare syndrome.