Sometimes known as childhood Alzheimer’s because of its similar signs and symptoms, Sanfilippo syndrome is a rare genetic disorder that, according to the Team Sanfilippo website, only occurs once in every 70,000 newborns. As a result, many have never heard of the syndrome or know that Monday, Nov. 16, is World Sanfilippo Awareness Day. That is, unless your child is one of those 70,000.
Trenton Hooks, the son of Jamie and Cory Hooks, was diagnosed with Sanfilippo syndrome in January 2019, about a month after turning 14. Identified relatively late compared to most with the syndrome, Trenton, who lives in Shippenville with his parents, had been diagnosed with a plethora of conditions, including ADHD, hearing loss, personality disorder and autism, after his parents observed a decline in function about four years ago.
“From the age of 10 there was some serious regression that started to take place; speech and just daily functioning. He couldn’t ride a bike anymore and he used to be able to do that. He was no longer toilet trained. Some basic things just started changing drastically around 12 years old,” Jamie Hooks said. “This regression led to further testing, led us down a different path. Doctors sent us for genetic and DNA testing.”
The Cure Sanfilipo Foundation describes the syndrome as a genetic disorder of metabolism that affects the central nervous system, resulting in features such as progressive developmental delays, significant hyperactivity, intellectual disability with brain atrophy, seizures, loss of ambulation, and loss of oral feeding. These typically first become apparent between 2 and 4 years of age.
“Every kid with the disease progresses differently. His progression wasn’t where a lot of these kids are when they’re 3 years old. We probably would have been searching for the answer a long time ago, but he wasn’t that far along,” she said.
Trenton is currently enrolled in the autism support classroom through the Riverview Intermediate Unit at North Clarion. A nurse attends school with him and Trenton receives speech-language therapy, aural rehabilitation, occupational therapy and physical therapy. Getting him ready for school and taking care of his needs when he comes home keep the Hooks busy.
“He gets up and it takes both of us (his parents) to get him around and ready because he requires complete assistance with everything. He can’t function outside of us doing everything for him,” his mother said.
“A nurse rides the van to school with him and takes care of all his personal needs at school. And when he gets home my husband and I, that’s us all evening. We’re lucky, Sanfalippo kids typically don’t sleep, but he’s still sleeping 12 hours a night.”
Trenton is an extremely happy child and enjoys a variety of activities when not in school. “He likes to ride anything — golf carts, cars. We have a golf cart and that’s what he likes to do all the time. He likes to be outdoors so he takes lots of walks in the adaptive stroller we have. He jumps on the trampoline all the time, too,” Jamie Hooks said.
“He likes to be involved, he’s still very social. He loves to be around a lot of people and he gets really excited and happy when friends visit. We’re pretty involved in a lot of things and he just loves that.”
Trenton’s two younger brothers, Treyven and Tyson, are supportive and include him in their activities. “They’re good with him. They’ve grown up with these changes with him,” she said. “They’re extremely supportive, they’re patient. They just roll with the punches.
“Even their friends include Trenton in things; they’ve just known him growing up. They’ve all just kind of taken him under their wing and include him, which is really nice.”
Throughout their journey, the Hooks have been able to rely upon the support of not only their long-time friends, but also those more newly met ‘friends.’
“People that we didn’t know prior to this (Trenton’s diagnosis) have really rallied around us. We’ve been lucky and people have come into our lives along the way. We have a really supportive church and church family that’s been great to us,” said Jamie Hooks.
Presently, there is no cure for Sanfilippo syndrome, only supportive or palliative care. Because of this, Trenton’s mother is passionate about bringing attention to the disorder, saying “Our biggest thing is trying to create awareness and acceptance. Kids like Trenton have a lot of behaviors that people typically aren’t used to seeing. Just people accepting the fact that someone that doesn’t act like you’d expect might have a really good reason for it.”