Cody Carroll was a healthy toddler when he started struggling with recurring ear infections and hearing loss at the age of two. He was given hearing aids.
But his mother, Georgia Nonas, was concerned when she noticed other issues. Cody had started to speak, but then became mute.
While Cody was diagnosed with autism, his parents and doctors believed something more could be at play — and it turned out to be devastating.
Cody was ultimately diagnosed with Sanfilippo syndrome, better known as childhood dementia. It causes severe intellectual disability and, typically, death in the teenage years.
“We noticed his hearing wasn’t very good, and he was having recurring ear infections,” Nonas, 29, told creatorzine.com.
“This is a common telltale sign of Sanfilippo syndrome, but at the time, we didn’t even know what that was.
“He also started to show regression in his development. He said ‘mamma’ and ‘baba,’ and then never spoke again.”
Cody was diagnosed with autism in August 2020, but his consultant spotted the other signs that indicated he may have Sanfilippo.
Children with the inherited disease often have features that become more pronounced over time like a prominent forehead, bushy eyebrows, and a pronounced bottom lip.
Meanwhile, physical symptoms, which tend to develop between the age of one and four, include speech and developmental delays, sleep disturbances, and recurrent ear, nose and throat infections.
Cody was diagnosed with type A, the most severe, with a life expectancy of mid-to-late teenage years.
“It was the worst day of my life,” Nonas said. “I felt numb and was very much in denial.”
She, her mother, and Cody’s dad, Callin, were “silent.”
“I didn’t process it for a long time. I remember sitting at a family BBQ a few days later and I couldn’t hold a conversation. I was completely zoned out. It was like in the movies when all you hear is ringing in your ears and you can’t hear the noise around you.
“When it started to hit me, I would act fine all day, and then as soon as I was alone, I would cry until I fell asleep,” she added. “Every morning I woke up, it hit me all over again.”
Understanding what it meant for her son and her family took a while, too.
“I can’t remember exactly how it was explained to me at the time — it’s hard to concentrate when you receive news like that — but over time and through countless appointments, I picked up what the diagnosis would mean,” she said.
“Cody’s body is missing an enzyme, which means his body has a lot of waste it can’t process, and this builds up on his spinal cord and brain.
“It’s progressive — over time, the damage caused by the waste takes away his ability to communicate, eat, and walk, and it causes brain damage. The doctors told me to take him home and give him all my love.”
Since his diagnosis in July 2021, Cody has continued to decline, including his mobility, meaning he is often reliant on a wheelchair, and he can no longer swallow solid foods.
He also has daily painkillers due to muscular and joint pain, and is prescribed a sleeping aid as the condition severely affects sleep, as well as suffering epilepsy, which is common for children with Sanfilippo syndrome.
“Daily life can be hard for Cody — his sleep, communication, mobility, and even eating is affected,” his mother said.
“As a parent, it’s incredibly difficult to see your child in pain. I’m constantly on edge, wondering when the next seizure is coming. Anticipatory grief is a big part of being a parent to a child with Sanfilippo — you start grieving your child the day you get that diagnosis.”
She said it’s a “gut punch” at random times of the day.
“I’m watching my child fade away every single day, and it’s enough to break a person,” she added.
Nonas has been vocal on social media with sharing Cody’s story, helping to raise awareness, having never heard of Sanfilippo syndrome before her son’s diagnosis.
While there is no known cure, she is advocating for early diagnosis to be made as accessible as possible for other parents.
“I feel it’s important to share Cody’s story because, before his diagnosis, we had never heard of it,” she said. “When I went looking for a community online, I saw children who looked just like Cody — I couldn’t believe it.
“I feel like if someone sees Cody’s story and thinks, ‘Oh, my child has those features,’ it can lead to an earlier diagnosis — which is so important so we can get them support and therapies to make their lives more manageable.”
Alongside her advocacy work online, she takes every day as it comes with her son, whom she describes as “the most loving little boy.”
“Everyone who meets him is just amazed by him, and I couldn’t be prouder to be his mama,” she said. “When Cody was diagnosed we lived in a world with very little hope, however in the coming years, we’re very focused on time.”
They are waiting for the FDA to approve UX111, a gene therapy that could mean a “much longer future” for Cody.”
“It isn’t a ‘cure’ in the traditional sense, but it is a way to slow down the clock,” she said. “Our biggest wish is to get him to that treatment so we can hold onto the boy he is today for as long as possible — to keep his smile, his laugh and his spark from being taken away too soon.
“I don’t want birthdays to be a sad day, a reminder of the clock ticking,” she added, calling her son the “light of my life.”
They currently have a trip to Disneyland Paris booked for July to make the most of Cody’s time and “make as many memories as possible.”
