Staying upright can be an adventure for any toddler. When Dustin Bennett was just 18 months old, his adoptive mother, Linda Bennett, knew the difficulty her son was having keeping his balance was beyond the typical toddling. “He kept going sideways,” she tells Florida’s Mayport Mirror newspaper. So Linda took Dustin to see a doctor, the first step in a “medical ordeal” that the Mirror reports is now into its second decade.
Over the years, Dustin, now 23, has been “poked and prodded by pediatricians, neurologists and psychiatrists.” He’s undergone numerous tests, tried many medications, suffered “serious side effects,” and faced frequent disappointment. Then a physician suggested Dustin and Linda visit Mayo Clinic’s Florida campus to meet with neurologist Zbigniew Wszolek, M.D. Even though the Mirror reports that Dustin and his mother arrived at Mayo “without medical records,” it didn’t take long for Dr. Wszolek to recognize that Dustin was likely up against some kind of genetic disorder.
Dr. Wszolek took Dustin’s case to colleague Alexander Parker, Ph.D., associate director of Mayo's Center for Individualized Medicine. After reviewing Dustin’s medical history, Dr. Parker and colleagues within the center used a form of genomic testing called whole exome sequencing and determined that Dustin, indeed, had a rare nervous system disorder called episodic ataxia type 1.
While there is currently no cure for Dustin’s condition, a report on the Mayo Clinic News Network says there are medications available that can help control his symptoms. The medications have helped to improve Dustin’s motor and cognitive functioning, as well as his quality of life. “When I saw Dustin for the first time, he was not able to function from the motor standpoint,” Dr. Wszolek says. “He was clumsy, falling and had episodes of wracking movements. Now he is able to do activities such as playing basketball and going to school. He is a completely different man.” It’s the kind of change that Dustin’s mother has spent the past 23 years trying to find. “I wasn’t willing to give up, because I felt there had to be an answer somewhere,” she says.
Hear more from Drs. Wszolek and Parker on the use of whole exome sequencing in Dustin’s diagnosis and treatment in the video below. Then, be sure to share your comments below and share this story with others using the handy social media tools.