Bethany’s Story

By: Amanda, Parent of Bethany, a 12 year old with a 16p11.2 Duplication

“It will all be ok. Early intervention is the best.”

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

They argue a lot now because her sister and her are developmentally the same age. My 12 year old has 16p 11.2 duplication and my 9 year old has ADHD and Dyslexia.

What does your family do for fun?

We like to swim, bike, go bowling, go to the trampoline park, and go to movies.

Tell us about the biggest hardship your family faces.

We are all good right now. No hardships to speak of.

What about your child puts a smile on your face?

Her sense of humor and when she accomplishes new skills.

What motivates you to participate in research?

I like to learn about the issues that may arise as my child gets older, so I may know more about what to expect.

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 carry this gene but am unaffected. My daughter, who is affected by this, is very delayed for her age. We want to do whatever we can to help other families that are in the same situation.

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

I have learned that they are all affected differently. No 2 families are alike.

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

It will all be ok. Early intervention is the best.

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


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

We would love to have the opportunity to be involved with more of the families that are in the same situation we are.