Stories about: seizures

Five things you might not know about epilepsy

epilepsy isn't just seizures

The classic image of epilepsy is of someone falling to the ground and shaking uncontrollably — but that stereotype isn’t always accurate, particularly in kids. Children are usually diagnosed after two or more unprovoked seizures, or after a single seizure if there’s a high chance of further ones. Yet this isn’t a one-size-fits-all condition, and seizure activity can change over time as young brains develop. We asked Dr. Phillip Pearl, director of the Epilepsy Center at Boston Children’s Hospital to share some more surprising facts about this condition.

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First a birthmark, then a rare-disease diagnosis

Brielle, who has Sturge-Weber syndrome, peers over a wooden fence as she plays outside
Brielle plays near her home in Rhode Island.

Two-year-old Brielle Coutu loves listening to music, dancing and eating enough cheese that her mother, Heather, often wonders aloud, “Are you a mouse?” Brielle loves to play outside and is usually a chatty, happy-go-lucky little girl. But, sometimes, she can be overwhelmed by the excitement of gathering with family and friends.

“We think she has some sensory sensitivities related to her Sturge-Weber syndrome,” says Heather.

Brielle was born with what’s known as a port-wine birthmark on her face. It is aptly named for its dark reddish color. Port-wine birthmarks can be present on otherwise healthy babies. But Heather and her husband, Justin, quickly learned that this type of birthmark can alternatively be symptomatic of a worrisome underlying condition.

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For teen with epilepsy, nurses are like a second family

epilepsy-emma-1When 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.

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Tuberous sclerosis: Clinical trial may be what halted Charlotte’s seizures

Seizures tuberous sclerosis
Charlotte with Jurriaan Peters, MD, in the Clinical and Translational Study Unit.

When Charlotte D’Amario was about 4½ months old, she began making odd, forward-lurching movements. At first, her pediatrician thought it was reflux—that she was trying to spit up. “It was getting worse and worse, and no one had a clue as to what it was,” says Allyson, her mother.

Her parents started to videotape her while she made these odd motions. They occurred in clusters of as many as 50 at a time, several times a day. Seeing videos of Charlotte at 8½ months, her pediatrician sent her to a neurologist. An electroencephalogram (EEG) revealed seizure activity, and an MRI scan showed tuber-shaped growths in Charlotte’s brain.

Charlotte was diagnosed with tuberous sclerosis complex (TSC), a rare genetic condition in which benign tumors grow in the brain and other organs such as the skin, heart, eyes, kidneys and lungs. In about 90 percent of children, it causes epilepsy that can result in developmental delays.

Charlotte’s parents were worried. “She wasn’t crawling or rolling, wasn’t hitting those baby milestones,” says Allyson.

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