Frankie’s Story

By: Carli, Parent of Frankie, a 7 year old with a CHD8 genetic change

“Keep researching and finding out all you can to help your child.”

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


What does your family do for fun?

Holidays, theme parks.

Tell us about the biggest hardship your family faces.

Having three children with three different disabilities.

What about your child puts a smile on your face?

He is funny and so cheeky.

What motivates you to participate in research?

I’m willing to participate in any research.

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)?


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

Lots of useful info and some similar features.

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

Keep researching and finding out all you can to help your child.

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

What is the lifespan of someone with CHD8?