16p11.2 Deletion Story #1

By: Gregory, Parent of a 20 month old with a 16p11.2 Deletion

“Our families share something special so let’s make our lives special for all of us”

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

It is a wonderful relationship, they interact lovely!

What does your family do for fun?

We play games together, go to playgrounds, spend a lot of time with grandparents, uncles, and the rest of the family

Tell us about the biggest hardship your family faces.

As we don’t know what to expect in the future, we take every day the way it comes!

What about your child puts a smile on your face?

The first thing in the morning when I go to his room and he is still sleepy but smiles at me right away

What motivates you to participate in research?

1.) To find out the most up-to-date information to support our child as much as possible 2.) To help other people with our input 3.) To connect with other families in a similar situation

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)?

I hope that I/we can contribute as much as possible

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

At the moment, I haven’t learned too much as I haven’t had contact with too many families yet.

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

Your life has just taken a new route and you should be excited to find out where it will lead you!

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

Will our child be able to speak “normally”?

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

Our families share something special so let’s make our lives special for all of us