Anonymous Story #6

By: Denise, Parent of 13 and 18 year old with a genetic change

What is your child’s relationship like with his/her siblings?

Loving, fun, silly, sometimes wavering into mean.

What does your family do for fun?

Movies and games.

What about your child puts a smile on your face?


What motivates you to participate in research?

More answers.

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)?

Would like to help other seizure affected children.

What have you learned about your child’s condition from other families?

Not much so far.

If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?

“Aerodynamically the bumblebee shouldn’t be able to fly, but the bumblebee doesn’t know that so it goes on flying anyway.” ~Mary Kay Ash

What is one question you wish researchers could answer about your child’s genetic change?

Seizures, more about the refractory seizures.