Angelman syndrome (AS) is a rare neuro-biological genetic disorder occurring on the 15th chromosome in the form or a deletion, mutation, or defect in one specific gene. Most individuals with AS are deletion positive. Deeply scientific but to summarize - this mutation or deletion is responsible for several features and characteristics that make AS recognizable. An individual with Angelman syndrome will be developmentally delayed. Also, the individual may experience seizure activity, fascination with water, speech impairment or absence of speech, movement or balance disorders, sleep disorders, metabolic issues, sensory/motor issues, low muscle tone and a variety of behavioral issues. All children with AS are non-verbal.
The national Angelman Syndrome Foundation (ASF) is a non-profit organization that provides numerous resources and information for families with an AS individual. ASF’s mission is to advance the awareness and treatment of AS through education, information, research and support for individuals with the diagnosis of AS and their families. ASF sponsors a national biennial conference to bring AS families together with professionals dedicated to the study of this disorder. The conference provides opportunities to hear about the latest research, therapeutic techniques, long-term planning and networking with families.
The proceeds from our fundraising event provide financial assistance to families who would otherwise be unable to attend.
Recent update - scientists believe they have discovered a cure for Angelman syndrome. Two children from Ohio are currently involved in a clinical trial with 24 patients. We are excited about the potential possibilities of this treatment and the hope it brings for a more independent lifestyle for our Angels.
For more specific information on Angelman syndrome visit - www.angelman.org