By: Rebecca, Parent of Jacob, who has a KDM6B genetic change
“Expect the unexpected. Be prepared to advocate for a child who appears typical on the outside.”
What is your child’s relationship like with his/her siblings?
The other boys tolerate him, but do become easily annoyed. As they have gotten older, this has improved with each year. Now that our oldest 2 are in college, our typical son has developed much increased empathy for how difficult it may be for our affected son to navigate college.
What does your family do for fun?
We love to travel. Mostly in the US to do and see things more than just to relax. We spend time with lists of extended family.
Tell us about the biggest hardship your family faces.
The unknown future is the most difficult aspect for us. We have never quite known how much independence to expect. But for the most part, we have been pleasantly surprised.
What about your child puts a smile on your face?
He is very outgoing and extremely creative. His “limitations” often serve as an advantage when he does not realize that others may be nervous or self-conscious, he just charges ahead.
What motivates you to participate in research?
We feel our situation is very unique—one child with ASD and 2 without. His gene mutation is rare and we feel it’s important for future understanding as well as to finding the few others who have a similar experience.
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)?
His gene mutation is rare, so participating seems important for the understanding of its impacts.
What have you learned about your child’s condition from other families?
Not much yet. Other than it seems relatively rare.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
Expect the unexpected. Be prepared to advocate for a child who appears typical on the outside.
What is one question you wish researchers could answer about your child’s genetic change?
How/why this gene mutation occurs.