Elias’ Story

By: Shannon, Parent of Elias, a 2 year old with a MED13L genetic change

“Good luck, just take each day as it comes.”

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

My son and daughter have a great relationship. They are very loving to each other and love to play together. They do get into little arguments like any other siblings, especially when Elias gets into Leila’s ‘big girl’ toys.

What does your family do for fun?

Lots of stuff. We especially love going to local parks and taking walks in nature. The kids love playing on the playground and we enjoy the zoo and botanical gardens.

Tell us about the biggest hardship your family faces.

The communication issues that Elias has definitely strain the family, especially in the evenings. He has trouble letting us know what he wants and if he is tired, that is just compounded.

What about your child puts a smile on your face?

He is loving, happy, funny and just fun to be with.

What motivates you to participate in research?

I hope that our experience can help other parents.

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 hope our contributions can lead to better understanding of MED13L and possibly new interventions or medical treatments.

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

That it is not a one-size-fits-all diagnosis. It seems there is a spectrum. Also, seeing videos of kids running and talking is extremely helpful and gives us hope for the future.

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

Early interventions! First Steps and the therapy services they have provided have been very helpful.

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

What causes the communication problems and is there anything we can do to improve it?

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

Good luck, just take each day as it comes