Evan’s MED13L Story

By: Sarah, parent of Evan who has a MED13L genetic variant

What is your family like?

Hello, my name is Sarah and my husband is Steven we have two beautiful boys Eli who is 9, and Evan who is 3 and has MED13L we just found out and feel very stuck in this now what phase.

What do you do for fun?

We love the outdoors, fishing, going to parks, church, and the beach.

Tell us about the biggest hardship you face.

The unknown… I don’t know how to help my son and that alone is well just a lot to handle. He is in OT, PT, and speech therapy and will also be starting school in the fall.

What motivates you to participate in research? How has participating research been helpful for you?

To help my son and others.

How do you feel you are helping Simons Searchlight learn more about rare genetic variants?

Sharing Evan’s story.

What is one question you wish researchers could answer about this genetic variant?

Is there a life span?

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

Not really much, just in the same boat.

If you could give one piece of advice to someone recently diagnosed with this genetic variant, what would it be?

I’m looking for that still we are newly diagnosed.