Two families, one river apart, were simultaneously railroaded by diagnoses of a rare genetic disease in their 8-year-old children.
Trenton Greer and Fiona Humphrey won’t outlive childhood. A buildup of old cells along their vital organs has slowly degenerated their motor skills and speech. Around their third birthdays would be the best times of their lives.
Sanfilippo syndrome. It’s known as “children’s Alzheimer’s.” It’s fatal and there is no cure.
It’s a disease that is said to afflict one in 70,000 children worldwide, but it could be more because it’s often misdiagnosed as autism.
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These two families, whose paths never crossed, would soon learn that they weren’t alone.
He once was a ‘brute’
The Greers, a family of three, used to spend time fishing in shallow waters near Emerson Point. They would chase each other around their house, Trenton’s giggles echoing off the tile floor. They would play catch.
“We would call him ‘little linebacker,’ ” said his mom, Jenny Greer. “He was just a brute.”
His parents thought he might have autism, with his tip-toeing, learning to talk later than he should and avoiding eye contact. Jenny started teaching him sign language to facilitate their communication.
By age 5, he started to noticeably decline.
“Slowly he would just lose things that he had already gained,” Jenny said.
He needs his parents’ help to get out of bed, to get dressed, to style his hair with gel, to eat. His brown eyes wander, blinking slowly, letting you know he’s still there. Once he catches a glimpse of his mom making a funny face, he smiles, sometimes babbling in response.
They saw a neurologist one month before Trenton’s eighth birthday. But even Dr. Antonio Vasquez, the neurologist at All Children’s Hospital in St. Petersburg, had never diagnosed it before.
“Picture not throwing out your trash at your home,” Jenny said. “You know for a few days it would be OK, but eventually it will start to pile up and it will start to cause damage in your home; it will start to cause chaos in your home; it will start to smell.”
That’s essentially what happens in the body with Sanfilippo syndrome, said Vasquez, who diagnosed Trenton in February.
The disease is transferred by the parents, said Cara O’Neill, who co-founded the non-profit Cure Sanfilippo Foundation with her husband Glenn in 2014 after their daughter Eliza’s diagnosis. They said one in 133 people carry the recessive gene.
Sanfilippo syndrome is an enzyme deficiency that prevents the recycling of cells, building up what are called mucopolysaccharides. The buildup causes damage. Three years ago, Trenton started tripping more and couldn’t get on his bike, Jenny said.
Trenton can’t fish anymore because he can’t control his body temperature when he’s outside, Jenny said. He can’t walk on his own and he’s losing more and more weight. He wears a blue rubber toy around his neck to satiate the chewing inclination seen in Sanfilippo children.
What tipped Dr. Vasquez off to Trenton’s condition, other than his history of decline, were his facial features. He and other Sanfilippo children have bushy eyebrows, a broad nose, wide eyes. A urine test would ultimately give the family some answers.
Most Sanfilippo children only live until their early teens. But the Greers don’t know which of the four types Trenton is. Type A is the most common, but it is said to be the most severe.
“At this time, there is nothing that can indicate that he’s going to live longer than others,” Vasquez said. “There’s no way to make that prediction right now.”
When Jenny found out what had caused her son to revert back into a 3-year-old, she initially was bedridden.
“It’s kind of nice that I was naive this whole time, you know, because I didn’t know what this disease was doing to his body,” Jenny said. “It’s nice that I understand it now.”
She was born to be a mother, she felt. Travis wanted more children, too. But there was too high of a chance for having another child afflicted with Sanfilippo.
Travis relies on support from work and at home.
“Everybody says they understand or how bad that would be, but you’re actually living with it and dealing with it,” he said. “There’s nothing I could do … no solution I could do as a father.”
A stay-at-home mom, Jenny took to online research and Facebook groups. She talked with parents from all around the world, going through the same thing she did. She even planned to meet a north Florida mother who had two Sanfilippo children.
But the foundation soon shared news with her: There was a family even closer to her.
‘We just go one day at a time’
In a home north of the Manatee River, a trampoline sits in the middle of a living room waiting for a bouncing, strawberry blonde girl.
On a recent morning, Fiona Humphrey sat at the kitchen table munching on Lucky Charms. Her eyes were locked in on a cartoon playing on her dad’s iPhone, while her mom, with purple-dyed hair to show support for rare disease awareness, looked on.
Fiona’s parents, Randy and Catriona Humphrey, found out about her diagnosis around the same time Trenton’s parents did. They also know that Fiona has Type A. Her journey had similarities to Trenton’s: a trail of misdiagnoses before the truth was revealed.
While living in Michigan, Fiona was 2 1/2 years old when her parents realized she wasn’t speaking. Was she deaf? She had ear infections and sleep apnea, later having her tonsils removed. The next year, a neuropsychologist suggested she could have autism, but her parents say she had good eye contact and wasn’t concerned about patterns.
Bushy eyebrows and a thick tongue — some of the telltale signs of Sanfilippo — didn’t appear until age 7. By then, there was no going back.
Fiona’s older sisters found out what was wrong with their sister, but didn’t know the name of it right away.
“We both cried a lot when we first found out,” Paige, 15, said.
There’s nothing they can do about her diagnosis. But they help their parents with their sister whenever they can.
“We just go one day at a time,” Paige said.
“Whatever happens, just make the best of that day,” Heather, 12, said.
Fiona hasn’t lost her ability to walk yet, and she can still say a few words when encouraged. The Make a Wish Foundation granted the family a pool to be put in their backyard.
“We make sure that she stays as mobile as possible so she’s not going to lose,” Catriona said. “We figure … the more active we keep her, the longer she’ll stay active, we hope.”
Catriona sought advice from Cure Sanfilippo Foundation, which featured her family as one of several on their website. So far this year, the foundation has raised half of its goal of $1.5 million. They use that money to fund research and spread awareness.
The Humphreys tried to get Fiona into a clinical trial. If it’s caught early, some researchers hope one way to cure Sanfilippo could be to replace the affected enzyme and prevent the buildup.
“Unfortunately, they said her disease process was too advanced for her to qualify for the study,” Catriona said. “Plus, they were looking for smaller, younger kids because they said, ‘We can give two kids at 2 what we can give one kid at 8.’ ”
Cara O’Neill, with the foundation, said clinical trials definitely can take older children, but pharmaceutical companies want to study children whose condition hasn’t worsened yet.
The foundation hopes to raise enough money to fund studies that cover the entire spectrum of the disease, from youngest to oldest, mild to severe. In 10 years, they want newborn screening for Sanfilippo to be customary.
‘Awareness is huge’
Taking a cue from the foundation, Randy and Catriona Humphrey organized a fundraising 5K run at 9 a.m. Aug. 19 at G.T. Bray. The event, “Fight for Fiona 5k,” aims to raise $15,000 for the Cure Sanfilippo Foundation. The Greers and the Humphreys hope to meet there for the first time in person.
“Everything is about money, unfortunately,” Randy said. “But really to me also, awareness is huge.”
Even Jenny Greer’s cousin, Brighton Osborne, then a junior at Bradenton Christian, spread the word about Sanfilippo by organizing a dress-down day late last school year. Instead of wearing their uniforms, students could pay $3 to wear purple, signifying rare disease awareness.
By the end of that day, she raised more than $300 for the Greers.
“We have a really close family, so like we see each other a lot,” Osborne said, tears in her eyes. “It’s really hard for me to see him like the way he is now.”
Jenny was blown away by the gesture.
Trenton and Fiona will always be toddlers. But for these parents, every day is that much more precious. It’s too late to find a cure for them, but their families are making the most of their time left.
Jenny hopes to use her newfound knowledge and help another mother going through what she did. The little things, like Trenton’s laugh and smile, keep her going.
“I have to be thankful and grateful for that because some parents don’t even get eight years with their child, so I have to be thankful.”
Recording Fiona’s moments on video and going to the beach are priorities for the Humphreys.
“Now,” said her father Randy, “it’s just playtime.”
If you go
What: Fight for Fiona 5k, benefitting the Cure Sanfilippo Foundation
Where: G.T. Bray Park
When: 9 a.m., Aug. 19