Sophi’s Story

By: Betty, Parent of Sophi, a 7 year old with an ANKRD11 genetic change

“Hang on for the ride”

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

Best friends, horrible enemies

What does your family do for fun?

Swim, parks, crafts

Tell us about the biggest hardship your family faces.

Financial. Living far from specialists… becomes nearly impossible to see everyone we need to.

What about your child puts a smile on your face?

Every time either makes a new advancement

What motivates you to participate in research?

Helping others.

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)?

Every little bit helps

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

Everything!

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

Hang on for the ride.

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

Why?

Is there anything else you would like to share with other families?

You are not alone.