Anonymous Story #7
By: The parent of a child with a genetic change
“Just love them and help them any way you can.”
What is your child’s relationship like with his/her siblings?
Indifferent, but growing closer. They have a 5 year age gap.
What does your family do for fun?
Swimming, walks, zoo.
Tell us about the biggest hardship your family faces.
Juggling all of his therapy with work and trying to make time for my other child.
What about your child puts a smile on your face?
His smile. He’s always been a happy baby.
What motivates you to participate in research?
Not much is known about his particular gene change so I want to be a part of the new knowledge ASAP to help him reach his full potential.
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)?
I’m not sure I will.
What have you learned about your child’s condition from other families?
Nothing yet. Seems hard to find other families
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Just love them and help them any way you can.
What is one question you wish researchers could answer about your child’s genetic change?
I’m not sure.