Enzo’s Story

By: Jorge, Parent of Enzo, a 3 year old with a 1121.1 Duplication and a 16p11.2 Deletion

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

Enzo doesn’t have any siblings.

What does your family do for fun?

Play in parks, shop, and play at home.

Tell us about the biggest hardship your family faces.

The lack of information about 16p11.2.

What motivates you to participate in research?

Wanting to learn more about the changes and share experiences.

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)?

Well, because my son has the two changes.

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

I haven’t read anything yet.

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

Keep going and never give up.

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

What will the development of my son who has 1q21.1 duplication from me and the 16p11.2 deletion alone be like? Today he is three years old and not speaking yet, but saying a few words. What will the future be like?