By: Stacey, Parent of Evan, a 15 year old with a 7q11.23 Duplication
“It (Simons Searchlight) also seems like an amazing way to create a large community and bring more research and awareness to many small communities who might not otherwise have such a big voice. Please join today!”
What is your child’s relationship like with his/her siblings?
Evan is a loving brother. He enjoys spending time watching movies and playing board games with his siblings. As the 3 move into teenage years, it has gotten harder to find family time together, Evan’s social world and interests are more constricted then that of his siblings. It is a challenge!
What does your family do for fun?
We love to bike ride and watch movies and stand up comedy. We enjoy family vacations and adventures. We are kind of “foodies” and love to find new restaurants or recipes. Especially Evan!
Tell us about the biggest hardship your family faces.
Our biggest hardship as a family is finding activities and interest that we can all share together. Everyone is unique and different, but having a family member with a developmental disability adds a new degree of difficulty. We often need to base family decisions around ways to be inclusive and accommodate Evan’s needs or limitations.
What about your child puts a smile on your face?
Evan has a great sense of humor. He always tries to see the best in people and situations, and is even able to poke fun of himself, something many neuro-typical people cannot do.
What motivates you to participate in research?
Medicine has made amazing strides at understanding the role of genetics in Autism and the nuance of underlying rare genetic conditions. Unfortunately, out in the community, knowledge and understanding lag very far behind. In our experience with the schools and regional centers, they only know the major diagnoses and anything else is written off and given very little attention or resources. Searchlight offers a way to bridge the rare genetic conditions and Autism, linking them in a way that we feel will help promote increased awareness and access to necessary programming and services for affected individuals.
How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?
Unlike other studies, Searchlight will study 7q11.23 Duplication as a group regardless of Autism diagnosis. As many of our affected members have strong components of Autism but may not meet full diagnostic criteria, only by including everyone can researchers truly gain insight into the roles our genetic changes may play in Autistic traits and behaviors.
What have you learned about your child’s condition from other families?
7q11.23 Duplication families hosted their first ever national conference in 2018. It was incredible to see how alike many of the affected individuals were, but also to see aspects of my son that were unique to him. Meeting other families can give practical information and interventions, but also help put into focus which traits may be “hard wired” and more difficult to change and which behaviors may be more of a passing phase or easier to target.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
I think that we waited too long to seek a formal Autism diagnosis. Evan was in many different therapies and interventions at an early age. We received the genetic results at age 9 but he wasn’t formally assessed for Autism for a few years after that. Most of the needed services in transition to adulthood and beyond are more accessible with a formal Autism diagnosis. I would recommend that families receiving positive genetic confirmation seek out an Autism evaluation at that time.
What is one question you wish researchers could answer about your child’s genetic change?
The role of environmental factors in de novo genetic changes leading to 7q11.23 duplication. Is there increased risk for currently unaffected family members to have similar de novo changes arising in subsequent generations?
Is there anything else you would like to share with other families?
This project seems so important at understanding the role of genetics in autism. It also seems like an amazing way to create a large community and bring more research and awareness to many small communities who might not otherwise have such a big voice.