Stories about: neurology

SPG47 research brings hope to families

Robbie and Molly, who both have SPG 47, hang out on a bench at Disney World
Robbie and Molly [PHOTOS COURTESY OF KASEY EDWARDS]

“Mama Kasey — I spy!” I smile. Robbie wants to play “I spy with my little eye.” She’s actually quite good and relishes the enthusiasm she gets when she’s right. In fact, recently, we were with someone who was unfamiliar with the routine. After Robbie answered correctly, she waited. Though complimented, it wasn’t enough. Robbie gently took this woman’s hand, looked her in the eye and said, “clap.”

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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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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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