- November 13, 2024
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When Sapphire Point’s Sean Rabus was born, he was considered “unremarkable” in medical terms.
He was like any other child.
But at 7 months old, things changed.
Sean began having spasms.
Maureen Flood Rabus and her husband, Charles "Chip" Rabus, took their son to a pediatrician, but doctors kept saying he was fine and would grow out of it.
Something didn’t feel right though.
Maureen and Chip decided to take Sean to a neurologist. Within 10 minutes of an electroencephalogram, the neurologist brought in a team to talk to Maureen and Chip. Sean was admitted for further testing.
On July 3, 2019, Sean was diagnosed with infantile spasms, which is one of the most severe forms of pediatric epilepsy. Doctors discovered the underlying cause for Sean’s epilepsy was Menkes disease, a fatal neurodegenerative disorder of infancy.
In the U.S., the incidence of a male being born with Menkes disease is one in 100,000 or greater according to the National Institute of Child Health and Human Development.
The odds of a child living to 3 years old is less than 5%.
Sean is beating the odds.
He will turn 6 years old Nov. 19.
To help celebrate as well as raise money for awareness and to find a cure for epilepsy, the Rabus family is hosting the first Seany’s Shuffle in Lakewood Ranch Nov. 17. The event, which will start at the Sapphire Point Amenity Center, 5970 Bluestar Court, will be a 2.6-mile fun run and a 1-mile walk to represent the one in 26 people who will develop epilepsy in their lifetime.
Although Sean has epilepsy, he’s unique. Maureen said Sean is one in a million who will spontaneously have a mutation on the gene that causes Menkes disease. The disease is typically genetically inherited.
To see their son go from having a typical childhood to no longer being able to sit up, hold things in his hand, play with toys and eat solid food was devastating, but they’ve never given up hope.
“The hardest thing probably was his smile. When he was undergoing treatment, the first thing I noticed was that he stopped smiling. This is a kid who smiles all the time. It was devastating as a parent to see,” Maureen said.
After Sean’s diagnosis, he started a rigorous course of hormone steroid treatment, which included copper histidine injections multiple times per day. Sean had acute pancreatitis 18 months ago that resulted in half his pancreas being removed after a three month stint in the hospital. He’s had numerous ear, nose and throat surgeries.
No matter how many injections, treatments or hospital visits, Maureen said the journey has encouraged them to learn to have grace and humility. They celebrate every little milestone, like Sean being able to hold a crayon in his hand for three seconds, as though he’s won a gold medal at the Olympics.
“I’m most proud of how hard this kid works and how hard he fights,” Maureen said. “He works tirelessly every day in therapy. He has had long and short stints in hospitals, and he rarely complains. Most of the time, he just laughs at the doctors.”
Sean hasn’t had a seizure in three years, and his last EEG showed normal brain patterns for a child of his age.
“He is truly amazing, and we feel very lucky we’ve been able to control his seizures,” Maureen said. “We’ve been able to control his epilepsy, and that’s what has allowed him to continue to develop. But the reality is we don’t know what the future holds for Sean. We don’t know whether his epilepsy will return in a different form for him.”
Dr. Stephen Kaler, considered a renowned expert on Menkes disease, recommends children stop the copper histidine injections after three years as the risk of damage to renal function becomes too great.
With Sean being the only documented case of his mutation, Maureen said it’s been challenging to find treatments as there is limited research on next steps for a child like Sean.
“It’s frustrating and infuriating sometimes when you ask the world’s expert on Menkes, ‘What is the path for Sean?’ and he says, ‘Sean will tell us,’” Maureen said. “I just want a road map, but Sean will tell us, and Sean continues to tell us. He continues to be a superhero warrior.”
Sean is non ambulatory, non verbal and communicates using an eye gaze device that allows him to control a mouse on a device with his eyes.
“There is no cure for Menkes. The ability to control his epilepsy is really what has allowed him to continue to develop,” Maureen said.
The Rabus family moved to Florida 15 months ago from Chicago. The winters were too much. One winter, Maureen said every time he had a cold, it was a visit to the pediatric intensive care unit. Florida offered warmth and sunshine to allow Sean to be outdoors more.
Sean’s journey has inspired Maureen and Charles to serve on boards of nonprofits that have helped Sean.
Maureen is on the board of directors for Cure Epilepsy, which is the organization that will benefit from Seany’s Shuffle. Cure Epilepsy funds epilepsy research with the goal of finding a cure.
Charles serves on the board at The Haven, which is a Sarasota nonprofit where Sean goes for his speech, eating, physical, occupation and aqua therapies.
“We wanted a place for Sean where he could grow and thrive, where he could feel included and not different,” Maureen said. “The last year-and-a-half he’s been around other kids who are in chairs, other kids who use eye gaze to communicate. It has been an amazing community.”
Seeing how much Sean has developed makes Maureen emotional.
“This is a kid who, until he was 6 months old, could sit independently. Then until about six weeks ago, he couldn’t do that. Now he can. “It’s 10, 15 seconds at a time, but those little things are huge milestones for him,” Maureen said. “We’re just incredibly grateful that the medication he takes to control his epilepsy continues to work and allows him to grow and thrive.”
Maureen said she and Charles have trusted their instincts, and any time something hasn’t felt right, they advocate for Sean because his life depends on it.
“Sometimes you have to yell and scream from the rooftops to get them what they need and advocate for them, especially when you have a non-verbal child who cannot tell you what hurts,” she said.
When Sean was first diagnosed, Maureen and Charles said it was a scary and confusing time. They had to become medical experts quickly to understand what was happening to their son.
“Fast forward five years, and I feel like I have a special needs mom doctorate degree because you learn a whole new language you never wish anybody would have to learn,” Maureen said.
Maureen said the family’s motto is Sean can do anything he wants to do, and it’s their job to enable him to have the opportunities.
They live every day like it could be Sean’s last because with the uncertainty of Menkes disease, it could be. They try to give Sean every experience they can.
The family takes trips and goes to every live Paw Patrol and Daniel Tiger show. They’ve been to sporting events, including University of Notre Dame sporting events and Chicago Cubs games.
The family went to Disney World in October, and Sean rode Seven Dwarfs Mine Train for the first time. Three years ago, Maureen said she never imagined allowing Sean to go on rides, but he’s built up his strength enough to allow him to ride, despite her fears. While she was panicking on the ride, Sean was having the time of his life.
“Your heart explodes,” Maureen said. “My heart is half like, ‘Oh my gosh, is this a terrible idea? Am I the worst mom in the universe for letting him try this?’ The other part is just so ecstatic for how happy he is and the pride he has in himself.”
