Charleroi fourth-grader thriving despite rare cardiac condition
Nathaniel Benjamin, 9, enjoys drawing in his Charleroi living room. Nathaniel was diagnosed with a rare heart condition that can cause a heart attack.
Nathaniel Benjamin, left, and his twin brother, Samuel. Nathaniel was diagnosed with Brugada syndrome, an inherited condition. His brother and sisters underwent genetic testing and do not have Brugada.
Nathaniel was granted a shopping spree at Wal-Mart through the Make-A-Wish Foundation.
Nathaniel Benjamin, following surgery in which an implantable defibrillator was placed into his chest in order to make sure his heart does not stop beating.
Nathaniel Benjamin, left, with siblings, Kaitlyn, Sonniah and Samuel.
When Amanda Blouir welcomed her twin sons, Nathaniel and Samuel Benjamin, into the world nine years ago, she was overjoyed.
The boys, with their brown eyes and sweet smiles looked like the picture of health.
But Nathaniel started having breathing difficulties shortly after Blouir, of Charleroi, brought him home.
Doctors couldn’t find a reason.
When Nathaniel was three years old, he passed out while playing with friends.
“He was playing around with a bunch of kids at a friend’s house and one kid just touched his chest, and he collapsed, he stopped breathing,” said Blouir, who is certified in CPR. “I was very panicked and I’m yelling, ‘Call 911,’ and he snapped right out of it. He got right up and was ready to play again.”
Then, in January 2018, while visiting his aunt’s house, Nathaniel again fainted. Moments later, he regained consciousness.
Blouir rushed him to Washington Hospital, where medical personnel performed an EKG, which appeared normal.
But an astute cardiologist was suspicious that Nathaniel might have a rare heart condition called Brugada syndrome, which doesn’t always appear on an EKG.
“She said, ‘We need to life flight him to (UPMC Children’s Hospital of Pittsburgh) tonight,'” recalled Blouir. “I had never even heard of Brugada.”
Nathaniel then underwent additional tests that confirmed the news: he did indeed have Brugada Syndrome Type 1 with syncopy, the most serious of the Brugadas.
Brugada is a genetic condition – usually inherited from a parent who has it as well – that causes an abnormal cardiac rhythm. The result: sudden cardiac arrest.
Nathaniel’s pediatric cardiologist, Dr. Gaurav Arora of UPMC Children’s Hospital of Pittsburgh, said less than 1% of the population is diagnosed with Brugada, which he described as “an electrical disease of the heart.”
The syndrome is believed to be responsible for as many as 12% of all sudden deaths and roughly 20% of deaths in patients with structurally normal hearts.
Most victims are men, predominantly of Asian descent, who die in their sleep.
Currently, treatment is an implantable defibrillator.
Blouir said the diagnosis was devastating.
“It’s very difficult. My son’s condition is so unpredictable. I check on him all the time at night. I’m in his room so many times at night. I can’t sleep through the night because I want to make sure he’s OK,” said Blouir. “I’m stressed and I just want to cry.”
On Feb. 8, 2018, Nathaniel had an implantable cardioverter defibrillator (ICD) implanted in his chest that monitors his heartbeat and delivers an electrical shock if it detects an interruption.
Since the diagnosis, Blouir has learned as much as she can about the potentially life-threatening disorder. She even has attempted to contact Dr. Josep Brugada, the Spanish cardiologist who discovered the syndrome in 1992, to discuss progress in research.
Blouir’s priority is to provide a normal life for Nathaniel, who is a fourth-grader at Charleroi Elementary School.
He loves to play Minecraft and X-box games, drawing and reading. He wants to be a police officer.
“He’s humble and compassionate, and polite and sweet, the kind of kid who helps the elderly with groceries,” said Blouir.
And Nathaniel enjoys school, especially gym class.
“Nate’s been here for a little over a year, and he’s acclimated himself very well. He’s socially well-adjusted, gets along well with peers, and he’s a great addition to the school,” said Charleroi Elementary School principal Steven Shields. “He always seems to be happy.”
His physical education teacher, Amanda Bashioum, has made accommodations to meet his individualized education program, and makes sure Nathaniel has opportunities to hula hoop and jump rope, two of his favorite activities. If he can’t participate in an activity during gym class, Sam and a couple friends do a different activity with him.
“His safety is our No. 1 priority. He’s pretty comfortable and pretty outgoing. He’s a really good kid,” said Bashioum. “Last week, I felt a hug come from behind, and I turned around and it was Nate.”
Arora said there are activities Nathaniel can’t participate in because of concern he could damage the ICD, including football and wrestling, and he has to avoid exposure to strong magnets and certain careers such as welding.
He has to be closely monitored when he gets a fever, and must avoid certain medications.
“There are triggers that bring on arrhythmia, so it’s advisable to treat fever aggressively, and to pay attention to diarrhea and throwing up, which can result in dehydration and electrolyte disturbances. That has to be watched closely,” Arora said.
People who have Brugada syndrome have a 50% risk of having a child with the condition.
Nathaniel’s biological father, who is Guyanese, has relatives who are believed to have Brugada, including a brother, a police officer who died at age 27.
Nathaniel’s four siblings underwent genetic testing and do not carry the gene.
Blouir said she has connected on Facebook and through Sudden Arrhythmia Death Syndromes (SAD) Foundation with people who suffer from or have loved ones who have Brugada or died from it.
But, she hasn’t had much success locating other children with Brugada.
“I want to talk to people who can relate to what we go through,” said Blouir. “I’m hoping people who have Brugada will read about this and contact us.”
Arora said he is excited about research underway, including cauterization, that might prove effective in treating Brugada.
“In the scheme of diseases of the heart, Brugada is relatively newer, but there’s a ton of research being done,” Arora said.
Blouir acknowledges Nathaniel’s health issues are challenging for a 9-year-old boy, and that the journey has not been easy.
He gets depressed when he’s not able to do an activity.
“Living with Brugada syndrome is not a normal thing,” Arora said. “For a kid, it has an effect on him mentally. As he gets to be a teen and a young adult, it adds a layer of complexity to it.”
But, the uncertainty makes Blouir cherish every day she spends with Nathaniel and his siblings.
“I worry about him every day. Every time Nathaniel has a fever, or gets a cold, any pinch, any rash, I’m scared,” said Blouir. “It’s like cat-and-mouse, you don’t know if your child is going to wake up from when they sleep. But I feel grateful, I feel thankful that we found out when we did. Every day with my son is a blessing, and he’s a soldier. I try to make every day positive.”