By: April, Parent of Ethan, an 18 year old with an STXBP1 genetic change
“Take it day by day! Live in the moment.”
What is your child’s relationship like with his/her siblings?
His siblings are very protective of him. They don’t play together though as Ethan has never really played with anyone.
What does your family do for fun?
We go out to eat, go on vacations, visit family, go for walks, go to church.
Tell us about the biggest hardship your family faces.
Trying to manage everything and everyone! Especially since the world is not wheelchair friendly!
What about your child puts a smile on your face?
When he smiles/laughs. When he interacts with me! When he’s having a good day and seems to be totally “with” us!
What motivates you to participate in research?
To help others.
What have you learned about your child’s condition from other families?
Pretty much everything I currently know about his mutation is from other families.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Take it day by day! Live in the moment.
What is one question you wish researchers could answer about your child’s genetic change?
Why this happened.
Is there anything else you would like to share with other families?
Our children are a precious gift!