Sunday, March 12, 2017

Kids point and stare, and she suffers from multiple seizures - but brave girl, 2, born with huge red birthmark across her face knows how to shrug it off: with laughter

Brielle Coutu looks very different from other children.



The two-year-old, of Coventry, R.i., has a large, dark red in his face birth - known as a 'port wine stain' mark.
However, it is an indicator of a much more worrying condition.
Small Brielle has Sturge-Weber Syndrome - a rare disorder that can only be detected by a special MRI.
Cause to suffer from convulsions and some developmental delays - Brielle forcing her to be in six different drugs of.
The family spoke with Daily Mail Online about everyday struggles and Brielle to get through them: laughing.
Brielle, born with birth mark of port wine that covers your front and comes on the left side of his face.
Leave a 'stain' dark, reddish, it is caused by a malformation in the smallest vessels in the body, known as capillaries.
This Mole may be present in healthy babies, but her parents, Heather and Justin, soon learned that it can alternatively be a symptom of an underlying condition.
Port wine birth occurs in three of every 1,000 babies.
But doctors said the parents of Brielle eight to 15 per cent of the babies of birth port wine can have Sturge-Weber Syndrome
Sturge-Weber Syndrome is a rare congenital disorder characterized by vascular birth marks and neurological abnormalities.
The abnormalities are hidden, however - the only way to detect them is through a special MRI that allows that the malformations to be reflected.
A month after she was born, an MRI confirmed that the brain of Brielle was capillary malformations, which led to a diagnosis of Sturge-Weber.
Sturge-Weber patients with cerebral capillary malformations have up to a 90 percent risk of epileptic seizures, said neurologist of Brielle, Dr Anna Pinto.
Seizures are a sign of another witness of the syndrome. Brielle started having them when he was three months old.
The crisis lasted several days and it was hospitalized in Rhode Island. Eventually, it triggered a movement as an event.
The Coutus had been seeking help in the Boston's children, where Brielle is currently a patient in order to prevent seizures and deal with other aspects of the disease - such as glaucoma that could develop in both eyes.
Brielle is currently six different drugs: two that helps to control seizure activity as much as possible, preventing neurological deficit (nerve problems, spinal cord or brain function) due to the events of the movement - how and three that help combat the side effects of your seizure medicines.
She is also managed by a team of specialists including a dermatologist, endocrinologist, ophthalmologist and specialist in pediatric sleep disorders.
Even with all the medical care, Brielle faces many challenges each day. Last month, a stomach bug did suffer more than 30 attacks in one day.
'People really need to stay when they are ill', Heather told Daily Mail Online.
'It might be a simple cold to the average person, but it could cause serious health problems of Brielle.'
Despite the scare, Brielle family credit the team of medical professionals with help you live a life as normally as possible.
Annette, grandmother of Brielle, said: ' Brielle will transition from early intervention to school at 30 months and she will be starting school three years '.
As to whether the family is very excited, said yes and no.
' Yes, because all the cousins started the preschool in three years by what she will get to keep abreast with them that way. But no, because there are a lot of diseases and is very susceptible to them,' Annette added.
The family has created a page on Facebook to educate people about the travel document Brielle Sturge-Weber Syndrome.
They also share updates on fundraisers organized, including one which will be held in April to pay for plane tickets to the Sturge-Weber Foundation Conference in Ohio this month.
He is expected to continue educating and creating awareness of Sturge-Weber in the hope of finding a cure.
But above all, family is surprised by the joy of Brielle despite points and looks she may receive.
«Knowledge and acceptance is key. You know, not only we assume what is wrong, "said Annette.
' They think burning or that simply disappear. But we know that he is here to raise awareness of Sturge-Weber Syndrome. Saddened that she has, but we believe that it is here to educate people about it.'
The family says that even to various adversities, the child is talkative and loves listening to music and dancing.
Annette said: ' she is one happy always joking, teasing you dad and baby.









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