By: Rhiannon, Parent of Cordelia, an 8 year old with a CSNK2A1 genetic change
“Every step we take, every test we do, every survey we fill out….all leads to more information. This data can be studied and processed into real life changing information. Not just for us, but for all of those with OCNDS.”
What is your family like?
Cordelia is the youngest in our family, and has two older siblings. Family means everything to her and us!
What do you do for fun?
We love to spend all the time together we can doing fun activates and traveling. From camping in our RV, to visiting museums, to even fun family movie nights in!
Tell us about the biggest hardship you face.
The biggest hardship we face is all of the unknowns and the lack of information.
What motivates you to participate in research? How has participating in research been helpful for you?
Information that has not been available. Without participation, nothing would be found or studied to help understand how best to help those with OCNDS (Okur-Chung Neurodevelopmental Syndrome).
How do you feel you are helping Simons Searchlight learn more about rare genetic changes?
Every step we take, every test we do, every survey we fill out….all leads to more information. This data can be studied and processed into real life changing information. Not just for us, but for all of those with OCNDS.
What is one question you wish researchers could answer about this genetic change?
Is she more or less prone to getting cancer due to where and what the mutation is?
What have you learned about your or your child’s genetic condition from other families?
That they all seem to be so similar in their path to diagnosis. Also that they mostly all seem to love music, singing, and dancing to the best of their abilities. Along with their capacity to love with all their heart.
If you could give one piece of advice to someone recently diagnosed with this genetic change, what would it be?
It doesn’t change who they are, only how you both now see the world.