By: Amber, Parent of Harper, a 9 year old with a CSNK2A1 genetic change
“…be patient, have faith, things will get better.”
What is your family like?
Our family dynamic is great! Its just mom, dad, and our precious daughter, Harper.
What do you do for fun?
We like to be outside for fun! We love to bike, go on walks, play tennis, roller skate, scooter, horseback ride, ski, and hike!
Tell us about the biggest hardship you face.
The biggest hardship we face is our daughter is nonverbal, and to not know what she is trying to communicate with us. Also, the financial strain we have to try to get our daughter all the services we need is definitely a big hardship.
What motivates you to participate in research? How has participating in research been helpful for you?
It motivates me to participate, because I know if I enjoy learning about my daughters diagnosis, it can only be done if everyone contributes their information.
How do you feel you are helping Simons Searchlight learn more about rare genetic changes?
By submitting all the information we have on our daughter.
What is one question you wish researchers could answer about this genetic change?
Is this something that can be reversed? And how soon? But what would it change?
What have you learned about your or your child’s genetic condition from other families?
I’ve learned that my daughter will progress, I’ve learned to understand some frustrations that we’ve had like sleep, behavioral, stemming.
If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?
To be patient, have faith, things will get better.