Maci’s Story

By: Jessica, Parent of Maci, a 4 year old with a CSNK2A1 genetic change

“You are not alone in this journey. You have a village behind you. We are all in this together. “

What is your family like?

Our family involves Dad, Mom, brother, and our sweet Maci.

What do you do for fun?

We are an active family where we often spend our weekends at a dirt bike track, race track, or outside playing in the pool.

Tell us about the biggest hardship you face.

One of our biggest hardship is the lack of knowledge for the future.

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

By participating in research, we help pave the future for those who are just finding out about CSNK2A1.

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

By providing as much information we can to the researchers, we are helping the doctors learn more about this specific genetic change and how we can help the future.

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

What does adulthood look like? Will she be independent? Will she be verbal?

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

Other families have shown us that we are not alone in these journey.

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

You are not alone in this journey. You have a village behind you. We are all in this together.