The Jack Pribaz Foundation has a way of bringing people together. The foundation, also known as Jack’s Army, was established to help find a cure for KCNQ2 deficiency, an uncommon genetic mutation that causes a severe form of infantile onset epilepsy.
Connecting initially through social media, three families whose children have been diagnosed with KCNQ2 deficiency, traveled to Houston to tour the front line of research: the Cooper Lab at Baylor College of Medicine.
James Johnson and Scotty Sims, of Denver, Colo. brought their daughter Harper. Sara James, whose daughter didn’t make the trip, traveled from Australia. Michael and Liz Pribaz and their son Jack came from their home in Winfield, Ill.
In 2012, Jack Pribaz was only two years when he was diagnosed with KCNQ2 deficiency. The foundations connected with Dr. Edward Cooper, associate professor of neurology and neuroscience at Baylor, to consult with the boy’s clinical team at the Lurie Children’s Hospital and meet the Pribaz family.
Since then, the foundation and Cooper have collaborated to address the needs of patients with KCNQ2 deficiency.
“It is remarkable to see the faces of the children who are diagnosed with this disorder. It keeps you searching for answers in the hopes of improving their lives and the lives of their families,” said Cooper, who is also an investigator with the Baylor Intellectual and Developmental Disabilities Research Center and an attending physician at Harris Health System’s Ben Taub Hospital and Epilepsy Clinic.
In the lab, the group had a chance to see up-close the technology used to uncover mysteries surrounding KCNQ2 deficiency. Noting that KCNQ2 mutations can result in seizures, impaired development, and autism, Cooper expressed both respect for the seriousness of the disabilities now faced by patients and hope for the future.
“Spreading the word about this disorder is important now, since most patients remain undiagnosed, often after years of other testing. Finding the diagnosis leads families to a support system and also helps further build a community to participate in development and testing of new treatments,” Cooper said.
Read about the relationship between Dr. Cooper and the Pribaz family.
Learn more about the Jack Pribaz Foundation.
Watch the families tour the Cooper lab in this news story.