Ivy’s Story

By: Josee, Parent of Ivy, a 2 year old with a 16p11.2 duplication

“Reach out, get the information you need, push through, you are your child’s voice.”

What is your family like?

We are a quiet regular family, my 2.5 yr old has the 16p duplication, my husband works and I’m a stay at home mom.

What do you do for fun?

We go for walks, swim, play in the backyard, and watch cartoons.

Tell us about the biggest hardship you face.

At this point, my daughter’s biggest hardship would be not being able to walk and talk yet. You can clearly see she wants to be understood but the words cannot come out. For the walking, she wants to go but has to crawl and she will sweetly mumble as she goes, it’s the cutest thing, she’s angry she has to crawl but she still does it to go where she needs to.

What impacts your decision to participate or not to participate in research?

I’m not from the US so I’m not quiet sure if I can participate or not. Also, adding more appointments and bloodwork to my daughter’s schedule is not something I am ready to do at this time. She already has so much.

What is one question you wish researchers could answer about this genetic change?

How is it possible that some are very affected by this change yet some have no symptoms? What makes this change in chromosome so variable?

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

That we might be affected differently yet we all share similarities. That there is help out there, you just need to reach out.

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

This does not define who your child is, this is a challenge you and your child will learn to live with. Obstacles will appear along the way but they can be overcome and/or managed. Reach out, get the information you need, push through, you are your child’s voice.