The Whites’ Journey with TAOK1-related syndrome

What is your family like?

We are a family of 6 – 2 Adults and 4 kids. Our kids are all close in age. Our youngest has TAOK1.

What do you do for fun?

We are easy going, we enjoy the outdoors, music, games, just about anything we can do together.

Tell us about the biggest hardship you face.

Being told our youngest has autism at age 2. (We were told she has TAOK1 at age 10). At the time, we didn’t know what her future would be or how to best help her. After 8 years of ABA/school services, major growth, and her TAOK1 diagnosis, that hardship is an easier to cope with. We are hoping to connect with others to learn more about TAOK1 and how it affects her.

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

We are motivated to participate in research because we want to help in gain answers for future families. It’s hard to receive a diagnosis and not have any information to go with it.

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

I feel great helping in the Simons Searchlight learn more. The more information the better to help our understanding of the genetic change.

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

Is there a way of learning to help the brain developed as it should with TAOK1? (What is the best course of treatment)

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

Nothing, we don’t know anyone with this condition.

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

This genetic condition is a part of you but is not the whole you.

How has Simons Searchlight served as a resource for you and your family? 

Simons Searchlight is the only resource for this condition that has current information. Even if it is a small amount. It gives me hope that in the future there will be more resources because of it.