Mateus’ Story

By: Cristiane, Parent of Mateus, an 8 year old with a POGZ genetic change

“Look for information all the time.”

What does your family do for fun?

We love to travel, take pictures, go to the beach, play with other children of the same age and ride a scooter

Tell us about the biggest hardship your family faces.

Difficulty of learning, respect of people and public services for their limitations and difficulties in dealing with frustrations

What about your child puts a smile on your face?

My son is a smile boy almost the time

What motivates you to participate in research?

Life improvement for my son

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 think it’s super important because information breaks down borders and it’s important to deal with the difficulties of the syndrome.

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

The main difficulties that occur and what may be associated with the syndrome or his personality

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

Look for information all the time.

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

I see that gene therapy is evolving. Can the pharmaceutical industry disrupt this evolution?

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

Mateus is 8 years old, a special and smile boy. If you are from Brazil, let’s stay in touch.