The Deveralls’ Journey with POGZ-related syndrome

What is your family like?

Our family is unique in its own way. We don’t fit the traditional mold of a “typical” family. Raising our son Kai, who was diagnosed with Autism at 18 months and White Sutton Syndrome at age 14, has shown us the importance of celebrating small but significant milestones and finding reasons to laugh each day. Despite facing challenges, we have become more loving, patient, and accepting. As a family, we have learned to embrace not only Kai’s differences but also those of others who may be considered as different.

What do you do for fun?

Kai struggles with transitions from one environment to another, and it takes a lot of preparing. When Kai is at his best, he is quite adventurous. As a family we live in an active community where we go to music concerts, kayaking, biking, and going to our community social events.

Tell us about the biggest hardship you face.

Our biggest challenge with Kai is finding appropriate medical and behavioral support, as well as fitting in and feeling a sense of belonging. He doesn’t fit into the typical autism box, intellectual disability box, or typical medical box. Kai is funny, sarcastic, and highly intelligent, but he has learned to pretend not to hear or understand others in order to avoid work and socializing. Although we now understand why Kai has the medical issues and behavior he exhibits, we struggle to find ways to help him live a more independent and happy life.

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

We participate in the research so that we can help individuals and families like ours, hopefully gaining a better understanding of White Sutton Syndrome to improve the quality of life. I think about the struggles we faced when Kai was an infant and if we had known then what we know now, we can only imagine the progress he could have made, the better medical care he could have received, and the understanding of his needs.

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

By sharing Kai’s medical history, lab work, and questionnaire responses, we can provide valuable data to researchers to improve the quality of life for others in the future.

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

I wish we could understand what medications would be best effective in supporting Kai.

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

It has been reassuring to discover that we are not alone in our journey. Connecting with others who also navigate similar challenges enables us to collaborate, brainstorm, and exchange insights on what has and hasn’t been effective.

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

I think it’s important that your child is no different than they were the day before the diagnosis. Having a diagnosis provides a more defined map of how to help your child live their best life.

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

I’ve been able to provide information to educators and medical professionals who support my son.