After gathering current information on research, treatments and best practices at the conference, families will return to their local communities and share the information with their healthcare providers, therapists, teachers and extended family. Not only does this improve the lives of the individuals with dup15q syndrome, but it spreads awareness about this rare disorder.
Chromosome 15q11.213.1 duplication (dup15q) syndrome is a rare genetic disorder with symptoms including seizures, autism, hypotonia, behavioral issues and developmental delays. The Dup15q Alliance provides family support and promotes awareness, research and targeted treatments for dup15q syndrome. The conference supports our families by providing a time and place for a facetoface gathering. With a rare disorder such as dup15q syndrome, families often feel isolated and alone in their home communities. The camaraderie found at the family conference provides comfort and a sense of belonging. Many of the conference presentations offer practical suggestions for parents to use in caring for their child with dup15q syndrome. While seizures, autism, hypotonia and behavioral issues can result from a variety of disorders, those associated with dup15q syndrome have their own distinct characteristics. This is one of the few opportunities parents have to gather therapeutic information specific to dup15q syndrome. Scientists will be able to collaborate and interpret findings from research and clinic data about diagnostic and treatment protocols gathered from the nine dup15q clinics, which are located in major medical centers throughout the United States. By holding our scientific meeting earlier in the same week, we are able to include our science advisory board in the family sessions as well. This model of incorporating Dup15q experts alongside families affected by the syndrome is something that families cannot find anywhere else. The information that the research teams will glean by watching affected children is invaluable. An example of this is that the team working with our mouse models will be able to see firsthand the characteristics, behaviors and challenges our children present and then use those findings as they build hypotheses about the mice. Additionally, at the conference the Alliance will be promoting a 'Research Passport' for families to engage in research right then and there at the conference. We will have a room designated for the sole purpose of conducting, promoting and clarifying the current research initiatives. Families will be able to give blood samples, fill out the medical registry, clinic registry, facial imaging study and obtain a tooth collection tube for Dr. Reiter's toothderived stem cell work. On site research participation will help our science teams strengthen their databases and push their research to the next level.
