Karlea’s Story

By: Casey, Parent of Karlea, a child with a rare genetic change

What does your family do for fun?


Tell us about the biggest hardship your family faces.

We do alright

What motivates you to participate in research?

To learn more about it

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)?

It’s hard to understand

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

Not a lot, she has heart and kidney issues

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

To be strong

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

What to expect from her health problems

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

Just to talk