POGZ Story #1

By: Marjorie, Parent of 34 year old with a POGZ genetic change

What is your child’s relationship like with his/her siblings?

Devoted. Daughter with autism diagnosis and now POGZ is older and younger daughter is like the older daughter but their bond is deep.

What does your family do for fun?

Trips that include interesting sights.

Tell us about the biggest hardship your family faces.

Divorce 20 years ago. Abuse of us in diagnosis and struggle for services played a part.

What about your child puts a smile on your face?

Her sense of humor and her lack of guile.

What motivates you to participate in research?

We always suspected a syndrome.

How do you feel you are impacting our understanding of the genetic changes being studied in Simons Searchlight (16p11.2, 1q21.1, or single gene changes)?

Not entirely sure but yesterday Dr. Cook said the initial elevated serotonin findings from back in the 90’s might also be significant as well as the POGZ finding.

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

Nothing yet about POGZ as we just received the information yesterday.

What is one question you wish researchers could answer about your child’s genetic change?

Her high level of functioning in comparison to what we see in literature about POGZ.