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.

“Doctors told us that port-wine birthmarks only appear on three out of 1,000 babies,” says Heather. “Then, they also told us that 8 to 15 percent of babies with port-wine birthmarks may have Sturge-Weber syndrome.”

Sturge-Weber syndrome: A hidden risk

Sturge-Weber syndrome is a rare disorder characterized by facial port-wine birthmarks or abnormalities of small blood vessels in the brain known as capillaries. These capillary malformations of the brain, hidden from plain sight, in contrast to the facial birthmarks, can be associated with a high risk of epilepsy. The only way to detect them — aside from telltale seizures — is to conduct a special MRI that allows the capillary malformations to be imaged.

One month after she was born, an MRI confirmed the presence of capillary malformations on Brielle’s brain, which led to a diagnosis of Sturge-Weber.

Brielle, pictured asleep as a baby, was born with a port-wine birthmark on her face that hinted she could have Sturge-Weber syndrome
When Brielle was born with a port-wine birthmark, doctors said there was an 8 to 15 percent chance she could have Sturge-Weber syndrome.

“Sturge-Weber patients with brain capillary malformations have up to a 90 percent risk of epileptic seizures,” says Brielle’s neurologist Dr. Anna Pinto.

Pinto is a member of the Boston Children’s Hospital Sturge-Weber Syndrome Clinic, which comprises a range of specialists to address all aspects of caring for patients with Sturge-Weber. In addition to port-wine birthmarks and neurological abnormalities, Sturge-Weber can cause developmental delays, motor skill impairment and eye problems.

Living with epilepsy

The Coutu family sought Pinto’s expertise after Brielle suffered her first seizures at 3 months old. The seizures lasted for several days and hospitalized her in Rhode Island. Eventually, they triggered a major stroke-like event.

Pinto and a team of Boston Children’s scientists are on a mission to crack Sturge-Weber’s code. They recently revealed that one particular gene mutation, found in people with Sturge-Weber syndrome, affects blood vessel cells. Could these mutated cells be the culprits causing Sturge-Weber?

“It was pretty scary,” Heather recalls.

“My mother-in-law found the Sturge-Weber Syndrome Clinic at Boston Children’s through the Sturge-Weber Foundation website. That’s how we came to see Dr. Pinto,” says Heather. Today, Brielle is still a patient at Boston Children’s Hospital, where she visits regularly in order to prevent her seizures and to treat other aspects of the disorder.

Brielle, who has Sturge-Weber syndrome, is pictured with her parents, Justin and Heather
The Coutu family travels from Rhode Island to visit Brielle’s doctors at the Sturge-Weber Syndrome Clinic at Boston Children’s.

Under Pinto’s watchful care, Brielle takes two medications that help control seizure activity as much as possible, one that prevents neurologic deficits due to stroke-like events, and three others that help combat the side effects of her seizure medications.

Several other specialists at the Sturge-Weber Syndrome Clinic also contribute to Brielle’s care. Her full Boston Children’s team includes ophthalmologist Dr. Gena Heidary, endocrinologist Dr. Abhinash Srivatsa, dermatologist Dr. Marilyn Liang, and pediatric sleep disorders specialist Dr. Kiran Maski.

Even so, Brielle faces new and unexpected challenges every day. Last month, a seasonal bug knocked Brielle’s neurological activity off balance. Heather and Justin rushed her to their local hospital after she began experiencing a gut-wrenching series of seizures. In total, Heather says, Brielle suffered more than 30 seizures that day.

“This is a great example of why people should stay home when they are sick,” says Heather. “What might be a slight cold for the average person could be what triggers a serious health condition in someone like Brielle.”

A bright outlook

Despite the recent scare, Heather insists Brielle is doing well against the odds. She credits Pinto and the team at the Sturge-Weber Syndrome Clinic with helping Brielle to live her life as normally as possible.

“So far, so good,” says Heather. “Brielle is enrolled to start school next year through a special education program, and we’re really excited for her to do that.”

Brielle plays outside at a Sturge-Weber gathering
Brielle takes a break from playing at a picnic in Rhode Island, which was held to bring together people with Sturge-Weber and their families.

The Coutu family uses a Facebook page to update family, friends and Sturge-Weber supporters about Brielle’s progress and to share information about fundraisers that the family organizes. “We hope by educating others and raising awareness about Sturge-Weber syndrome, we can speed up finding a cure,” Heather says.

Above all, her daughter’s cheerful demeanor never ceases to encourage Heather.

“She’s remarkably resilient and incredibly loving. And, she’s definitely ‘daddy’s girl.’ When Justin enters the room, she just lights up,” says Heather.

Meet the team at Boston Children’s Sturge-Weber Syndrome Clinic.