The Johnsons’ Journey with POGZ

What is your family like?

Not too much different than other families. Our daughter seems to develop slower than our other kids; however, there seems to be consistent progression.

What do you do for fun?

Travel, watch tv together, laugh–a lot! Our daughter is pretty easy going and fun-loving. She is not too limited on what she can do, so we can enjoy things most families do.

Tell us about the biggest hardship you face.

Because our daughter’s depth perception is intermittent, mobility at times can be problematic for her so we just have to stay close to help her with uneven surfaces, stairs, and especially escalators. She can become anxious and over-stimulated very easily when out and about ,as a result of being out in the community for a long time.

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

With such little information on this condition, we felt having our daughter’s case represented could somehow help other families, and us better understand our daughter as well.

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

Each one of the people I know who’ve been impacted by the POGZ mutation differ. By contributing to research, our hope is to better understand why our daughter is different or the same compared to others with the condition.

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

Prognosis. I assume this is most parent’s question too; what does the future hold for our children?

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

Each child is so unique. This gene mutation seems to have different variants with each of our kids. Also it seems many of the children have autism diagnoses, gastrointestinal issues, and vision quirks.

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

White-Sutton Syndrome doesn’t define your child; your child defines it.

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

It’s fascinating getting to see results of research done.