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 7 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. …
Join Boston Children’s Hospital and the Boston Globe for a Twitter chat on epilepsy, today, Monday, August 13, at noon.Tweeters from inside and outside Boston Children’s will take questions and discuss the latest on epilepsy treatment, diagnosis and how families live with the condition. You can sign up for a reminder and tweet your questions in advance of or during the chat to @BeWellBoston; use the hashtag #EpilepsyChat.
This Twitter chat was inspired by a recent Boston Globe story covering the evolving field of epilepsy treatment. The article featured two Boston Children’s patients who have had their epilepsy treated with new surgery techniques.
Roughly 1 in 26 Americans will develop epilepsy at some point in their life—more than will have autism, AIDS or Parkinson’s disease. Epilepsy medications can’t control seizures in about one-third of these patients, making surgery a better option in many cases. But surgery has its own risks, and does little to shed light on what causes the electrical disturbances in patients’ brains that trigger seizures.
The Globe story follows Paul Barney, Brian Manning and their families and doctors at Boston Children’s as they navigate the hopeful—and occasionally frustrating—world of modern epilepsy treatment.
Improvements in [epilepsy] treatments have come slowly, as scientists have learned more about the brain and the possible causes of epilepsy, which range from brain damage to inflammation.
New medications are beginning to arrive that address the brain’s over-excitation in different ways, offering hope to patients who haven’t had success with existing drugs… And doctors are getting better at understanding seizure patterns. Some people are more likely to seize in the morning, some in the evening, some while they sleep.
“If you know when seizures are most likely to occur, you can strengthen the defense against them,” said Tobias Loddenkemper, an assistant professor of neurology at Boston Children’s who recently controlled one boy’s seizures by increasing his medication dose in the evening, when his seizures were more frequent.
When Ian was diagnosed with epilepsy at age 3, his doctors said he’d outgrow it before he turned 5. But just the opposite happened: four months later, he abruptly started having much more frequent seizures, up to 40 a day.
With medications, the seizures stopped. But still, something wasn’t right. Ian seemed to be losing cognitive skills and language. He seemed to be in a fog.
“His outward seizures were controlled, but he wasn’t learning well,” says his mother, Michelle. “His development just stopped. He couldn’t learn anything new. We tried—I’m a teacher—and he was in a great special education program that gave him lots of support. But if he learned something one day, he couldn’t retain it.”
The family saw doctors at two different hospitals near their home in the upstate New York area. All of them said that learning disabilities tend to go with the territory in epilepsy. They suggested that Ian work with his therapist, his special ed teacher and his occupational and physical therapists to make the most of what he had.
But Ian’s parents weren’t willing to take Ian’s lost milestones as a given. They decided to take Ian to Boston, having heard that Boston Children’s Hospital had a good epilepsy program. …
MTV launches an online “morality meter” to help teens understand the difference between “digital use” and “digital abuse.” [Read whether or not parents are legally responsible when their kids engage in sexting.] Learning may be tougher for the teen brain. [Read about Frances Jensen, MD’s research into why teen brains really are different.]