Sasha’s Story

By: Irena, Parent of Sasha, a 4 year old with a DDX3X genetic change

“Your life is not over. Your child will grow, blossom, learn, surprise you and beat your expectations. Don’t underestimate your unique child; embrace the differences and find your tribe.”

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

Sasha and Lenny are twins and share a strong bond. Like any siblings, they sometimes fight for attention and or toys. They complete each other in terms of character traits – Sasha is calm and determined while Lenny is very dramatic.

What does your family do for fun?

We love to vacation in warm destinations, spend time with extended family and friends.

Tell us about the biggest hardship your family faces.

Given a limited number of DDX3X cases known to date, the future is unknown and can be frightening.

What about your child puts a smile on your face?

Sasha has amazing energy and light. She is as sweet as she is determined. She finds joy in smallest things and has a wonderful imagination. Her stories melt our hearts.

What motivates you to participate in research?

We believe in science. We believe finding a cure is possible. We have a unique child and she can make a valuable contribution to science.

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)?

We are the first DDX3X case in the study and hope to broaden your understanding of DDX3X mutation.

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

Every child is unique and children with a mutation are no exception. Within DDX3X group of families we find tremendous support and motivation. DDX3X.org and DDX3X Facebook page are our most insightful resources.

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 is not over. Your child will grow, blossom, learn, surprise you and beat your expectations. Don’t underestimate your unique child; embrace the differences and find your tribe.

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

What can we expect in the future?