Lee’s Story

By: Bethany, Parent of Lee, a 7 year old with a rare genetic change

“It’s a marathon- not a sprint. Take your time and don’t panic!”

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

My children absolutely adore each other! We are so lucky!

What does your family do for fun?

Movies, sports, gardening and vacationing on the beach.

Tell us about the biggest hardship your family faces.

Our biggest challenge is in defining appropriate ways to educate our children.

What about your child puts a smile on your face?

Lee is the most positive, upbeat child I know! It’s contagious!

What motivates you to participate in research?

A need to better understand Lee’s needs- help making decisions.

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)?

All information is meaningful.

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

None. We are looking to connect with other families.

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

It’s a marathon- not a sprint. Take your time and don’t panic!

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

I’d like to get a better picture of what my child’s future- what is appropriate to expect.