Fabio’s Story

By: Desiree, Parent of Fabio, a 13 year old with a CHD8 genetic change

“When he smiles our life is wonderful, we know better what happiness is.”

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

(There are) problems with interaction.

What does your family do for fun?

Sports such as swimming, riding, listening to the music, dancing and going to the sea.

Tell us about the biggest hardship your family faces.

GI problems, sleeping problems, interaction problems, difficulty to understand his disease, epilepsy, helping him be happy.

What about your child puts a smile on your face?

When he smiles our life is wonderful, we know better what happiness is.

What motivates you to participate in research?

To find a medicine to help him.

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 feel that someone is trying to help us to better understand this gene.

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

They are very similar: GI problems, sleeping problems, hypotonia, epilepsy, language problems and so on.

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

Each child is different from another; the life is one and we must try to live at the best.

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

If there is a possibility to find a medicine against this mutation which could help them to live a better healthy life.

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

Not only problems but also opportunities they have.