By: Trena, Parent of Emily, a 10 year old with an ANKRD11 genetic change
“To take it one step at a time, do your research and prepare to ask for help”
What does your family do for fun?
Swimming, parties, outings and family gatherings.
Tell us about the biggest hardship your family faces.
Ill health and managing our daughters kbg syndrome with all the symptoms that come with it. Getting the right treatments and services
What about your child puts a smile on your face?
Her singing and sense of humor
What motivates you to participate in research?
To find a cure and for more awareness
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)?
I am not sure
What have you learned about your child’s condition from other families?
That the symptoms are unique to kbg and the similarity in facial features and behaviors.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
To take it one step at a time, do your research and prepare to ask for help.
What is one question you wish researchers could answer about your child’s genetic change?
What caused it.
Is there anything else you would like to share with other families?
Living with a child with KBG syndrome is very demanding but the rewards are huge, don’t ever give up fighting.