What is your family like?

We were a family of three until our daughter Kate died at age 30 in 2019 due to SUDEP (sudden unexplained death in epilepsy). Seizures were her biggest challenge living with POBINDS (CSNK2B). With a lot of support, Kate was able to graduate from college and work part-time in after-school child care. She loved the kids.

What do you do for fun?

We loved fishing, watching sports on TV, and going to the movies. Kate liked to shop at the mall and was also ready to go out to lunch or to get coffee at Starbucks.

Tell us about the biggest hardship you face.

We did not get a definitive diagnosis of POBINDS until after Kate’s death. Knowing would have meant so much to her. Multiple seizure types that did not respond to medicine were her biggest challenges.

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

We want everyone to better understand this disease and hope for treatment and cures. Being involved in research gives us some sense of agency over this condition.

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

We are helping by sharing our data and encouraging others to do it too.

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

How can it be fixed to stop the disease?

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

We have an excellent international parent support group on Facebook. There are only about 100 folks diagnosed with POBINDS right now, so connecting with others to share advice and lend a sympathetic ear is so important.

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

There is a huge range of severity of symptoms.