CAPcast: Whole Exome Sequencing: When It's Your Son Getting Tested

Ever since Dustin Bennett was a toddler, he had trouble keeping his balance, and as he grew older, he experienced rigid, jerking spasms that would appear and disappear. He also developed learning disabilities. Linda Bennett, who is Dustin’s adoptive mother, took him to several doctors to try to find the cause of his movement problems. But after years of tests, medications, and hospital stays, there was no clear diagnosis. Then a physician suggested that Dustin, now 23, visit the Mayo Clinic’s campus in Jacksonville, Florida. There, specialists, including Dr. Zignew Zolek, recommended that Dustin undergo whole exome sequencing, using Dustin’s blood samples as well as his biological parents and sister. The testing lead to a diagnosis—episodic ataxia type 1, a rare condition. Dustin’s case was recently profiled in the Mayo Clinic Proceedings in a paper authored by Dr. Zolek. In this CAPcast, Linda discusses her experience with this genome sequencing, from a caregiver’s perspective, and the impact that the test results have had on Dustin’s life as well as on Linda and the rest of Dustin’s family.