(StatePoint) By the time Jaxson O'Brien was finally diagnosed with a form of Batten disease, his family had been to three doctors, endured countless hospital visits and tried nine different medications -- all the while still having more than 100 seizures a day.
"We believed his epilepsy diagnosis was conclusive, but the seizures continued and we still had no answers as to why this was happening," says Angella O'Brien, his mother. "We were frustrated, but we knew that we needed to keep searching for the underlying cause of his epilepsy."
There are many different causes of epilepsy. Some of these causes may be due to genetic changes or variations, even if no one in the family has epilepsy. Fortunately, genetic testing is shortening the diagnostic odyssey for many families dealing with childhood seizures.
Indeed, after undergoing an epilepsy gene panel, the O'Briens finally received a conclusive diagnosis of CLN2, a form of Batten disease and an ultra-rare and rapidly-progressing pediatric brain disorder. The first sign is typically a seizure between the ages of 2 and 4. From there, the condition rapidly progresses to dementia and the loss of vision and of the ability to walk and talk.
Jaxon's diagnosis enabled the O'Briens to end the search for an answer. The symptomatic overlap between different disorders that trigger seizures can make diagnosis challenging. However, today, comprehensive genetic testing can be used to efficiently diagnose some children who've experienced seizures.
"More than 50 percent of epilepsies have some genetic basis, and early testing may be the most direct, cost-effective and accurate diagnostic tool for childhood epilepsies," says Dr. Sookyong Koh, pediatric neurologist at Children's Healthcare of Atlanta at Emory University. "Epilepsy gene panels are a type of genetic test that looks specifically at genes that could be causing your child's seizure. In some cases, knowing a child's epilepsy is related to a genetic disease could lead to better, more tailored care options for the child."
Dr. Koh recommends that parents ask their child's doctor about epilepsy gene panels. Visit CanEpilepsyBeGenetic.com for more information on genetic testing and how to talk to a doctor.
"We've learned firsthand the importance of awareness and early screening," says O'Brien. "We are thankful that we were able to finally understand the root cause of his seizures and what we can expect for the future."