Helena’s Story

By: Leandro, Parent of Helena, a 3 year old with an SCN2A genetic change

“Be strong, keep fighting for it, look for the best doctors and therapists as they will bring a lot of evolution.”

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

She still has no siblings.

What does your family do for fun?

We go in the park, shopping and visit the family.

Tell us about the biggest hardship your family faces.

She has some signs of autism, communicating with her is very simple.

What about your child puts a smile on your face?

When she understands what we say and when she smiles at us.

What motivates you to participate in research?

Helping others who have the same genetic mutation and providing information to researchers of this gene.

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 believe that the exchange of information between patients and researchers can help in clarifying many symptoms and consequently better the quality of life of patients.

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

I’m still learning.

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

Be strong, keep fighting for it, look for the best doctors and therapists as they will bring a lot of evolution.

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

Will there be a cure? Is there anything that can be done to minimize the effects that the defective gene causes?

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

May our families be the true healers of this angels that God has placed in our lives.