16p11.2 Duplication Story #1

By: the parent of a child with 16p11.2 microduplication syndrome

“Don’t spend every day looking for answers, wondering what if, trying to change things, worrying about the future, because you’ll turn around a realize your spending way too much time overthinking and worrying and your not enjoying your child grow.”

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

Strained at times. Child is better behaved when home without siblings.

What does your family do for fun?

Fun is mostly arranged around our 16p child. Somethings are hard to enjoy so we don’t do it. Enjoy indoor play areas. Play outside at home. Parks, feed ducks.

What about your child puts a smile on your face?

His funny and quirky facial expressions.

What motivates you to participate in research?

To find answers.

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’m not sure.

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

That I won’t know what the future holds. We’re all as clueless as each other.

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

Don’t spend every day looking for answers, wondering what if, trying to change things, worrying about the future, because you’ll turn around a realize you’re spending way too much time overthinking and worrying and you’re not enjoying your child grow.

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

Will my child have autism/ADHD/mental problems/language disorder etc. Maybes or increased susceptibility causes more worry.

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