On August 1 and 2, the third annual Simons Variation in Individuals Project (Simons VIP) Connect 2014 Family Meeting was held in Philadelphia. The meeting brought together families with a child carrying deletions or duplications in chromosomal region 16p11.2 and researchers studying 16p11.2. Deletions and duplications in this region of chromosome 16 are considered genetic markers associated with autism.
Presentations by SFARI staff and other experts summarized the latest medical, cognitive, neural and behavioral research on 16p11.2 deletions and duplications. The talks ranged from covering the newest science and the outlook for the future of autism research to methods for overcoming the challenges associated with raising a child with autism. The two-day event also offered open panel discussions and provided opportunities for families to spend time with and learn from one another.
Promoting a sense of community among families with children carrying 16p11.2 deletions or duplications was an essential component of the meeting, and ample time was devoted to family networking.
“Knowledge is power,” says SFARI director Louis Reichardt. “For parents at this gathering, we believe that knowledge will help them and their children receive appropriate support.”
For families who have recently received a diagnosis, the meeting allows them to interact with both experts and families who have had similar experiences. With the information they obtain at the meeting, families can educate relatives, educators and doctors.
“The initial diagnosis can be an overwhelming time for families, as they scramble to find out as much as possible about the disorder,” says Jennifer Tjernagel, project manager of Simons VIP. “We’ve seen firsthand how valuable it is for these families to connect in person with others who have struggled with the same issues, hearing what has worked for them.”
Perhaps just as important, families leave knowing that they are not alone, and that there are others working through similar challenges.
“We learn so much, not only from professionals, but from other families as well,” says attendee Cherie Mantarro, whose daughter Maddie has a 16p11.2 duplication. “We look forward to these family meetings every year.”