16p12.2 Deletion Story #1

By: Parent of a child with a 16p12.2 deletion

“Stick with it, you will have good days and bad days and when you have a good day it’s fantastic.”

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

One minute he loves them the next he won’t go near them and can be violent towards them.

What does your family do for fun?

Walking as we can not do much.

Tell us about the biggest hardship your family faces.

How we should be and act with our child without him getting too excitable.

What about your child puts a smile on your face?

How loving he can be.

What motivates you to participate in research?

To try and help us and other people who may have the same problem.

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)?

My son has 16p12.2 deletion syndrome and I would love to help as I feel it could help other people and myself.

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

Not much as we don’t know anyone who has this problem.

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

Stick with it, you will have good days and bad days and when you have a good day it’s fantastic.

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

How to help him in life and what may happen later in life.

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

Keep smiling and try your best you are all doing great even though it’s all a struggle.