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Brielle Coutu looks very different from other children.
The two year old, from Coventry, Rhode Island, has a large, dark red birthmark on her face – known as a ‘port-wine stain’.
However, it is an indicator of a far more worrisome condition.
Little Brielle has Sturge-Weber syndrome – a rare disorder that can only be detected by a special MRI.
It causes Brielle to suffer from sets of seizures and some developmental delays – forcing her to be on six different medications.
The family spoke to Daily Mail Online about the everyday struggles and how Brielle gets through them: with laughter.
Tragic: Brielle Coutu, 2, was just one month old when she was diagnosed with Sturge-Weber syndrome, a rare disorder characterized by a large facial birthmark, glaucoma and seizures
Devastating: Brielle was born with a port-wine birthmark across her forehead and down the left side of her face. Although it can appear in healthy children, doctors told her parents it could be a sign of an underlying condition
Brielle was born with the port-wine birthmark that covers her forehead and comes down the left side of her face.
Leaving a dark, reddish ‘stain’, it is caused by a malformation in the smallest of the body’s blood vessels, known as the capillaries.
This birthmark can be present on healthy babies, but her parents, Heather and Justin, soon learned that it can alternatively be a symptom of an underlying condition.
Port-wine birthmarks occur in three out of every 1,000 babies.
But doctors told Brielle’s parents that eight to 15 percent of babies with port-wine birthmarks may have Sturge-Weber syndrome.
Sturge-Weber syndrome is a rare congenital disorder characterized by vascular birthmarks and neurological abnormalities.
The abnormalities are hidden, however – the only way to detect them is via a special MRI that allows the malformations to be imaged.
One month after she was born, an MRI confirmed that Brielle’s brain had capillary malformations, which led to a diagnosis of Sturge-Weber.
‘Sturge-Weber patients with brain capillary malformations have up to a 90 percent risk of epileptic seizures,’ said Brielle’s neurologist, Dr Anna Pinto.
Seizures are the other tell-tale sign of the syndrome. Brielle began to have them when she was three months old.
The seizures lasted for several days and hospitalized her in Rhode Island. Eventually, they triggered a major stroke-like event.
Worrying: Brielle began suffering seizures when she was three months old, a month before her parents took her Boston Children’s so she could be monitored for treatment
Daily struggles: Brielle is overseen by a number of medical specialists at Boston Children’s Hospital and is on six different medications to keep the seizures under control
The Coutus had been seeking help at Boston Children’s, where Brielle is currently a patient in order to prevent seizures and treat other aspects of the disorder – such as glaucoma that could develop in both eyes.
Brielle is currently on six different medications: two that help control seizure activity as much as possible, one that prevents neurological deficits (problems with nerve, spinal cord, or brain function) due to stroke-like events, and three that help combat the side effects of her seizure medications.
She is also handled by a team of specialists including a dermatologist, an endocrinologist, an ophthalmologist, and a pediatric sleep disorders specialist.
Even with all the medical care, Brielle faces plenty of challenges every day. Last month, a stomach bug caused her to suffer more than 30 seizures in one day.
‘People really need to stay when they are sick,’ Heather told Daily Mail Online.
‘It could be just a cold for an average person but it could cause serious health problems for Brielle.’
Happy: Despite the various scares, Heather and Justin say that they’re amazed by their daughter’s cheerfulness. Heather said: ‘She’s remarkably resilient and incredibly loving’
Despite the scare, Brielle’s family credit the team of medical professionals with helping her live a life as normally as possible.
Annette, Brielle’s grandmother, said: ‘Brielle will be transitioning from early intervention to school at 30 months and she’ll be starting school at age three.’
As to whether or not the family is excited, they said both yes and no.
‘Yes, because all the cousins started preschool at age three so she’ll get to keep up with them that way. But no, because there’s lots of sicknesses and she’s very susceptible to them,’ Annette added.
The family has set up a Facebook page to educate people about Sturge-Weber syndrome and document Brielle’s journey.
They also share updates about fundraisers they organize, including one that will be held in April to pay for airfare to the Sturge-Weber Foundation Conference in Ohio this July.
They hope to continue to educate and raise awareness for Sturge-Weber in the hopes of finding a cure.
But above all, the family is amazed by Brielle’s cheerfulness in spite of points and stares that she might receive.
‘Knowledge and acceptance is key. You know, don’t just assume what’s wrong,’ Annette said.
‘People think she’s been burned or that it will just go away. But we know she’s here to bring awareness to Sturge-Weber syndrome. It saddens us that she has it, but we believe she’s here to educate people about it.’
The family says that even in the face of various adversities, the toddler is chatty and loves listening to music and dancing.
Annette said: ‘She’s a happy baby and always teasing, teasing Daddy.
‘She’s very out-going, always running up to people and saying, “Hi”.’
WHAT IS STURGE-WEBER SYNDROME?
Sturge-Weber syndrome is a rare disorder present at birth. It’s characterized by a port-wine stain on the face and brain or eye abnormalities.
While some children don’t have any neurological symptoms of the disorder, others have severe developmental delays and seizures.
The disorder is not believed to be genetically inherited.
The total number of people with Sturge-Weber yndrome is unknown since many never receive a diagnosis. Estimates range between one in 40,000 and one in 400,000.
Signs and symptoms:
- Facial birthmark – port-wine ‘stain’
This is the most apparent indication of the syndrome. It’s present at birth and typically involves at least one upper eyelid and the forehead.
The birthmark, varying from light pink to deep purple, is due to an overabundance of capillaries – the smallest blood vessels in the body – just beneath the skin.
In rare instances, there is an absence of this birthmark.
- Neurological conditions
There is often excessive blood vessel growth on the surface of the brain (angiomas), located in the back region and on the same side as the port wine birthmark.
These angiomas create abnormal conditions for brain function in the region with seizure activity being the most common.
Developmental delay of motor and cognitive skills may also occur to varying degrees.
This increased pressure within the eye is another condition which can be present at birth or develop later.
The incidence of glaucoma in patients with Sturge-Weber is approximately 70 percent.
The glaucoma is usually restricted to the eye which has the stain involvement.
The treatment for Sturge-Weber syndrome depends on the type of symptoms the child may be experiencing. It may consist of medications to treat seizures, surgery to treat eye problems, or therapy to treat developmental delays.