ANKRD11 Story #1

By: Brianna, parent of a 2 year old with an ANKRD11 genetic change

“It doesn’t change who your child is, life might be more difficult than for some but it is just a roadmap and provides a huge support system to find that answer.”

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

Wonderful. She loves them and they love her. They protect her and look out for her and she lights up with happiness when she sees them coming.

What does your family do for fun?

Camping, movies, walks, play outdoors, hike, boardgames

Tell us about the biggest hardship your family faces.

Managing the day to day medical challenges and trying to live a normal life.

What about your child puts a smile on your face?

She is always so happy and brave. It doesn’t matter who you are or what you are doing she will seek you out and wave hello or smile or want to play.

What motivates you to participate in research?

There is a lot missing in research with KBG syndrome and the ANKRD11 gene. The struggles we have faced have been more difficult because of how unknown so many of her issues have been. We hope to make it easier on families that come after us

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)?

Our daughter is changing the known and will continue to teach us all.

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

Everything. Far more than genetic counseling or research online has said.

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

It doesn’t change who your child is, life might be more difficult than for some but it is just a roadmap and provides a huge support system to find that answer.

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

How can we find a treatment to lessen the severity of some of her symptoms?