Leah’s Story

By: Melissa, Parent of Leah, a 14 year old with a CHD2 genetic change

“Never give up. Keep pushing doctors to do everything they can to help control. Join support groups.”

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

Leah loves her older sister but is easily angered and can become aggressive.

What does your family do for fun?

Taking walks on the local trails and road tripping.

Tell us about the biggest hardship your family faces.

Definitely trying to control Leah’s epilepsy due to CHD2 and her developmental delay.

What about your child puts a smile on your face?

When she’s having a good day and her laughter.

What motivates you to participate in research?

Quality of life and I’d love to know more about CHD2 in regard to improving effective means of control.

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)?

Leah exhibits almost all of the findings in the research except the height and smaller head.

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

That they all share similarities

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

Never give up. Keep pushing doctors to do everything they can to help control. Join support groups.

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

Is there a way to stop the seizures completely?