At 5 months old, Tyler Cassinelli, now 3, was battling both liver cancer and intractable epilepsy. When he was at Seattle Children’s preparing to undergo cancer treatment, Tyler had a seizure that stopped his breathing.
“It was one of the scariest moments of my life,” said Jane Cassinelli, Tyler’s mother. “We could see his stats on the monitor dropping, and doctors came rushing in.”
Doctors quickly intubated and revived Tyler. Five months later, his cancer was in remission. However, he continued to have unpredictable and life-threatening seizures that multiple medications failed to stop.
Genetic testing revealed that Tyler had a mutation of the HCN1 gene. Children with this rare abnormality are at risk for traumatic epilepsies, said Dr. Nino Ramirez, director of the Center for Integrative Brain Research.
“It was difficult to hear that Tyler was expected to have a lifetime of hard-to-control seizures due to a genetic disorder,” said Cassinelli.
In addition to the mutation, Tyler had a brain malformation called focal cortical dysplasia, a common cause of intractable epilepsy. Testing showed Tyler’s seizures were coming from an area on the left side of his brain. Brain surgery to address the problematic lesion could help, and what’s more, his brain could also enable researchers to unlock some of the mysteries of the genetic mutation.
“Tyler’s situation was unique and extremely desperate,” said Ramirez. “There is great clinical interest worldwide in better understanding the HCN1 mutation, and Tyler’s brain could provide a rare window into its role in epilepsy.” Read full post »