By: Megan, Parent of Emma, a 10 year old with a 16p11.2 Duplication
“Stand up and be a voice. Advocate!”
What is your child’s relationship like with his/her siblings?
Emma loves her younger sister Bella! They are the best of friends always making up games and role playing together
What does your family do for fun?
We hang out in the pool, ride bikes, go on little adventures.
Tell us about the biggest hardship your family faces.
Understanding what Emma goes through with her duplication.
What about your child puts a smile on your face?
Her personality is so caring and artistic
What motivates you to participate in research?
To help other get information to help them with their child.
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)?
By doing the questionnaires you are learning so much about how this affects each person and how different each person and their duplication is.
What have you learned about your child’s condition from other families?
I have learned about possible stomach issues that many are facing and that my daughter is having.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Stand up and be a voice. Advocate!
What is one question you wish researchers could answer about your child’s genetic change?
What is her future like?
Is there anything else you would like to share with other families?
Don’t stop fighting and ask questions!