Amaya’s Story

By: Rhonda, Parent of Amaya, a 10 year old with an ANKRD11 genetic change

“We are all here for you. You aren’t alone.”

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

She plays with them but my child is less mature and more stubborn so that can create issues

What does your family do for fun?

Hiking national parks. camping in RV. Travel (that can be hard with my child though).

Tell us about the biggest hardship your family faces.

Lots of different types of doctors. Medical problems pop up and I don’t know if it is KBG related or not. For example, each month she has been having back of the knee pain. Took her to ER because she was crying so much. They said it is a sprain after taking x-ray. Now this month, the pain is back.

What about your child puts a smile on your face?

She is funny. Says the best stuff at an unexpected time

What motivates you to participate in research?

This Syndrome is rare and I want to do everything I can to increase info and knowledge for this cause.

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)?

First hand info

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

Everything! So nice to have a FB page where we can all share and learn from each other.

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

Welcome to the support group. We are all here for you. You aren’t alone.

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

How to handle all the different medical and educational issues. 1 doctor for all.

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

Thanks for being part of this community.