By: Annette, Parent of Glenn, a 15 year old with an ANKRD11 genetic change
“Never give up! Never ever stop looking for answers or stop advocating for your child and yourself. YOU are worth it!”
What is your child’s relationship like with his/her siblings?
He tolerates them well. With his lack of communication he doesn’t seek them out but they do include him whenever possible. The kisses goodnight by his 5 and 6 year old siblings warms my heart.
What does your family do for fun?
Whatever we can! Last night we spent hours in the swimming pool. We go to amusement parks, movies, bowling and go on trips.
Tell us about the biggest hardship your family faces.
We have a good life together. Rarely do we face things we consider hard, even those things that affect our plans, or the inclusion of our son, we don’t consider difficult, we just modify the plan and move onward. The things that do wear on us are wondering how the world accepts our boy.
What about your child puts a smile on your face?
When he holds my hand.
What motivates you to participate in research?
3 year old Glenn. When he was 3, he was typical in nearly every way. The sudden onset of seizures robbed him of who he was and that motivates me to get him as much of himself back as we can.
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)?
16q24.3 for us. This gene…I’ve seen hundred of people struggle with this mutation, people that just want to know how to help their children live good lives, not perfect lives, just lives they can enjoy. This gene, and it’s P53 relationship has the potential to make millions of lives better and more fulfilling. Who wouldn’t want that?
What have you learned about your child’s condition from other families?
I have learned that he has a family more like him than nearly any blood relative he has. They have taught us was to help him with his healthcare and have made him included in a world that didn’t know where he belonged. He belongs to them.
If you could give one piece of advice to someone recently diagnosed with the genetic change in your family, what would it be?
You are not alone.
What is one question you wish researchers could answer about your child’s genetic change?
How does HIS mutation help others?
Is there anything else you would like to share with other families?
Never give up! Never ever stop looking for answers or stop advocating for your child and yourself. YOU are worth it!