16p11.2 Duplication Story #3
By: Kevin, Parent of 2 children with a 16p11.2 duplication
“Take one day at a time, ensure you ask for help.”
What is your child’s relationship like with his/her siblings?
They don’t get on… argue with each other.. don’t like playing with each other.
What does your family do for fun?
Not much… face hard challenges doing this…
Tell us about the biggest hardship your family faces.
Going out, on buses, in shops..
What about your child puts a smile on your face?
Having cuddles, being on own
What motivates you to participate in research?
Trying to find out information about the condition
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)?
Not sure at this stage..
What have you learned about your child’s condition from other families?
Haven’t… trying to research to get some information
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Take one day at a time, ensure you ask for help.
What is one question you wish researchers could answer about your child’s genetic change?
Is there any things that could help us deal or manage the condition.. or symptoms with the condition so we can research what we are dealing with?