Stories about: neurology

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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Forty years waiting for a cure: ALD gene therapy trial shows early promise

adrenoleukodystrophy-Ethan-Emily
A small piece of notepaper, folded twice, sits tucked in a slot of the secretary desk in the living room. Every so often, I pull it out, read it, then reread.

Addressed to my mom, the paper has a question and two boxes, one “yes” and one “no,” written with the careful precision of a 7-year-old.

I am sad of Ethan. You too?

A check marks the box.

— Yes. Yes, I am sad too.

Read Ethan’s story on our Vector blog and learn more about the ALD gene therapy trial.

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Q&A: Zika virus in mothers linked with microcephaly in babies in Brazil

microcephalyYou may have heard the news: Brazil is facing a startling outbreak of microcephaly, a rare condition in which an infant is born with a head much smaller than it should be. Microcephaly almost always causes significant brain damage and can be life threatening. The epidemic has been linked to a simultaneous influx of the mosquito-borne virus Zika, which was first detected in the country last April and is now spreading rapidly around the Americas.

Thriving spoke with Dr. Ganeshwaran Mochida, a pediatric neurologist at Boston Children’s Hospital who specializes in microcephaly, and Dr. Asim Ahmed, an infectious disease researcher at Boston Children’s who specializes in mosquito-borne illnesses, to find out more about the situation and what you can do to keep your family safe.

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