FAMILY STORY

Zophia’s Story Living with CNOT3

“I’ve learned I’m not alone. It’s so nice to hear that there are others, searching just as I am. There is hope in numbers.”


By: Kariann, parent of Zophia, a 5 year old with CNOT3

What is your family like?

We have two adopted children, and then we have our special girl that lights the world!

What do you do for fun?

We play with Legos, explore the outdoors with magnifying glasses, and have family game nights.

Tell us about the biggest hardship you face.

The biggest hardship is the unknown. I’m so grateful for the answer to CNOT3 RELATED DISORDER. At the same time, our daughter has several other gene changes that have yet to be identified as benign or pathogenic as there is not enough research.

What motivates you to participate in research? How has participating in research been helpful to you?

I’ve never participated in research myself, but as a nurse I understand the value in pushing forward to help others so they may travel the road, a bit smoother, than those before them.

How do you feel you are helping Simons Searchlight learn more about rare genetic changes?

I’m unsure how we can help beyond sharing her information, but we are open to ideas as we would like to help.

What is one question you wish researchers could answer about this genetic change?

Why the variety between missense, nonsense, and translations? Why now are these de Novo cases found? I’m not sure if my infertility and genes may have set the stage or if it completely spontaneous.

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

I’ve learned I’m not alone. It’s so nice to hear that there are others, searching just as I am. There is hope in numbers.

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

Do not freight. Answers can seem scary, they are even difficult to understand, now is the time to rejoice that you have an answer. Do your best to not compare one person to the next as each is unique. Though they share a disorder, there are many other things you may not know.
If I’d had an answer when my daughter was 1 with the literature that is available, I would’ve been crushed. I may have never seen her as who she is, a beacon of light!

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