Ions flowing, proteins folding, channels opening, genomic codes – it is sometimes hard to picture the human side when basic science research is described. But for Dr. Edward C. Cooper, associate professor of neurology, molecular and human genetics, and neuroscience at Baylor College of Medicine, the human connection is what keeps his research going.Three families recently traveled from different parts of the country and, in one case, from around the globe from Australia to meet Cooper’s lab team and get a first-hand look at the work they do to understand a severe form of epilepsy that begins in the first few days of life, known as KCNQ2 deficiency. It’s a disorder their children live with.
“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 (IDDRC) and an attending physician at Harris Health System’s Ben Taub Hospital and Epilepsy Clinic.
The families visiting BCM included two-year-old Harper and her parents, James Johnson and Scotty Sims, of Denver, Colo. Harper’s parents first learned of Cooper’s research after searching online for more information about their daughter’s diagnosis. They found the Jack Pribaz Foundation, also known as Jack’s Army, created by Michael and Liz Pribaz after their son Jack was diagnosed more than two years ago. With the help of family, friends and their local community in Winfield, Ill., the Foundation supports KCNQ2-related research and was already helping Cooper’s research when James and Scotty found them online. (Read more about Cooper and the Pribaz Foundation in a previous issue of BCM Family).
The Jack Pribaz Foundation recently renewed their grant to Cooper. The Pribaz family joined Harper’s family on their tour of Cooper’s lab, along with Sara James, who traveled solo from Australia to meet the group. Sara’s daughter is also living with the disorder but could not make the trip. The three families connected through the Internet after an Australian Broadcast Company feature describing Sara’s seven-year search for her daughter’s diagnosis was posted online.
During the visit, members of Cooper’s lab welcomed the parents and other Jack Pribaz Foundation board members. They presented their latest research findings and described next steps. They answered questions and helped the families understand the complexity of their children’s disorder. 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.
“It is unusual, since the disease was first discovered only two years ago, that there are already drugs, some approved for use in man, which reverse KCNQ2 mutation effects in the lab. Families, researchers and doctors are mobilizing together now to work to overcome the great challenges associated with testing new treatments in very young children,” he said.
The family visits and new Baylor research were covered by NBC TV in Houston, Chicago and Denver (see more about the visit and media interviews at the Jack’s Army blog.
“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.