For teen with epilepsy, nurses are like a second family

When Emma Johnston steps onto 9 Northwest at Boston Children’s Hospital on a recent Friday afternoon, she’s like a celebrity surrounded by her fans. Nurses come out in droves with big hugs and warm smiles to greet the 13-year-old. They all know her. They have all cared for her, some since she was a baby. Emma’s been a familiar face at Boston Children’s since her first seizure, at seven weeks. Since that time, the nurses on 9 Northwest have made her feel special whenever she’s here. Genetic mutation causes difficult seizures Although Emma has gone for long periods of time without seizures, they have become more difficult to control in the past two and half years. Last November, after testing at the Boston Children’s Epilepsy Genetics Program, her family discovered why this might be the case: Emma has a very rare SCN8A gene mutation. Kids with this type of mutation have seizures that are notoriously hard to treat. “It’s good to know what we’re dealing with and to connect with other parents who understand, but it’s still so new and the number of patients are so few that there’s still a lot to learn,” explains Emma’s mom Colleen. Emma’s neurologist at Boston Children’s, Dr. Mark Libenson, has been working with this new information to try to help Emma gain better control of her seizures. “Emma’s specific genetic diagnosis has helped us choose the best medicines for her type of epilepsy,” says Libenson. But despite this new information, the past...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Our Patients’ Stories epilepsy epilepsy center epilepsy genetics epileptic seizures neurology nursing Source Type: news