Emery’s Story

By: Daniele, Parent of Emery, a 3 year old with a 16p11.2 Deletion

“Don’t get discouraged. You’re not alone. There will be difficult days and there will be easy days but don’t focus on the future or the “what if” scenarios. Focus on now and take it day by day.”

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

Emery is more of a loaner. She only wants to interact with her brother when he has a toy that she wants. Although, he can make her giggle and laugh.

What does your family do for fun?

We like to bowl, sight see, play Uno, go to the park, or stay at home and relax watching a movie.

Tell us about the biggest hardship your family faces.

I think finances is the hardest. We want to make sure Emery has the equipment she needs but we are told we make too much money to get assistance.

What about your child puts a smile on your face?

Just watching her grow and develop. I love watching her try to figure out toys or even just playing with toys. She’s nonverbal so watching the way she interacts with things and people is amazing.

What motivates you to participate in research?

I want others to know they aren’t alone and I want researchers to be able to figure out what all this deletion holds.

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

I’ve learned that it can take years for a child to talk or even walk and that obesity is something to look for.

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 get discouraged. You’re not alone. There will be difficult days and there will be easy days but don’t focus on the future or the “what if” scenarios. Focus on now and take it day by day.

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

How did this occur? My daughter’s deletion is de novo.