Doctors in Dallas are decoding the secrets that might be hiding in our genetic makeup.
They recently took a second look at the genetic testing of children with epilepsy and what they found provided answers and hope for one North Texas family.
Like most 16-year-olds, Ryan Olin is in his element at the buttons of a game controller, but navigating the road to a medical diagnosis has been anything but smooth sailing.
"He had some seizures and he had some other body movements that were not normal for an infant at about 4 months old," said Ryan's mother Jennifer Olin.
She says they knew early on their youngest son suffers from a epileptic disorder that's behind tremors and an unbalanced gait that, at one point, would cause him to fall 15 to 20 times a day.
Genetic testing to determine the exact cause of his disease provided no answers but researchers at UT Southwestern had just wrapped up a new trial that would change that.
"Our research question was, if the patient had a previous genetic test result and if we used the latest information, would that change the interpretation that was originally given several years ago?" said Dr. Jason Park, the study's author.
The UT Southwestern study quantifies for the first time how quickly rapid advancements in genomics may benefit patients.
Health Connection
Get connected to a healthier life.
Nearly one-third of patients had change in diagnosis based on new genetic data within five years.
Research published in the Journal of the American Medical Association Pediatrics includes a five-year review of more than 300 epilepsy cases that showed nearly a third of children had a change in diagnosis based on new data.
"It can explain why current therapies aren't effective. It can also mean that more testing and investigation needs to be done," said Park.
Based on these data, scientists are calling for parents to review gene tests done in children with epilepsy at least every two years to ensure their diagnoses and treatments are based on the latest discoveries.
When the Olins heard about the trial results, they had Ryan's original genetic testing re-evaluated and discovered he has a Glut1 deficiency, a rare disease that severely inhibits learning and muscle control by starving the brain of glucose, its main energy source.
The diagnosis also lead the Olins to a clinical trial of an edible oil that could help treat a Glut1 deficiency.
Combining the new diet with the supplemental oil derived from castor beans could provide a life-changing treatment, according to researchers in the trial.
Ryan is now a part of the trial.
"It is really to see him improve, finally get something that we can see improvement," said Ryan's dad Tim Olin.
