A rare and terminal metabolic disorder likened to childhood Alzheimer’s disease, Sanfilippo syndrome affects only about one in 70,000 live births. Among them is eight-year-old Joseph Saliba of Guelph. The condition is characterized by severe symptoms such as progressive dementia, mental retardation, developmental delays, decreased motor skills, aggressive behavior, hyperactivity, some deafness and vision loss, and inability to sleep for more than a few hours at a time. Like many children with Sanfilippo, Joseph appeared healthy at birth and was not diagnosed until he was four. But his mom, Francine Saliba, first noticed something was wrong when he was 14 months old. “The first year he was very advanced for his age. First word at three and a half months and then other words like mom, nana, doggy, all within the first year,” said Saliba. By nine months, he was running everywhere. But at 14 months he started getting chronic ear infections. No matter how much medication he was given, the infections just kept coming back. So he operated on the ear – three times – but the damage was already done. “He lost 80 percent of his hearing within a year because it was constantly blocked. Then that delayed his speech unfortunately,” he said. Chronic ear infections are one of the first symptoms to appear, and many doctors end up misdiagnosing the cause, instead of pointing to more common problems like allergies. Then other symptoms began to appear: a constant runny nose. she had a protruding belly and an umbilical hernia. At the age of four, he began to develop dominant facial features. “Now with every child it’s different. But with what he has, they get a lot more hair, bigger noses, bigger head, bigger lips.” After chasing a diagnosis for two years, they finally saw a geneticist at McMaster who knew it was Sanfilippo right away. They took blood and urine samples for genetic testing from Joseph and Francine, which confirmed the diagnosis: one of seven rare mucopolysaccharide disorders (MPS). Children with Sanfilippo syndrome or MPS III lack a key enzyme that breaks down a complex sugar in the body called heparan sulfate, which is a glycosaminoglycan, or GAG for short. Because it cannot be parsed, GAGs will continue to get larger and larger. it will slowly accumulate in the bones, brain and other organs, stopping normal growth and causing brain damage. “It’s kind of like a slow death,” Saliba said. While each type of MPS is clinically different, those with it usually begin with normal growth followed by a decline in physical and mental function. Because it attacks the brain in the same way dementia does, they usually forget the first words they learn, losing their language skills, followed by loss of motor function. By the age of 10, they usually lose the ability to walk. “Eventually, their liver, their heart, their gut, everything starts to get bigger, to the point where they have to be in a wheelchair or in a vegetative state or have breathing tubes and a feeding tube.” This is how the disorder developed for Joseph. When he was younger, he was able to “go up on the playground and things like that,” Saliba said. He has always loved music and when he was two years old, he said he loved playing the drums. “But with COVID, it went downhill.” Now, at eight years old, he is completely dependent on Saliba: she has to feed him, he is in diapers, he cannot walk, he has lost his language skills. Even so, he is still a “happy” kid with an infectious laugh. Life expectancy varies but not long, usually 10 to 20 years. Doctors told them Joseph’s life expectancy is just 10 years, Joseph’s grandmother Joanne Saliba said. Research into the condition really began in 1963, when Dr. Sylvester Sanfilippo first formulated the disorder. Today, there is still no cure. Instead, medical care is directed at treating ailments and improving quality of life, which is what Saliba is trying to do as much as she can for Joseph. Two years ago, she tried to get him into clinical trials for the only existing treatment option approved in Canada, which is gene therapy. But the pandemic has halted testing and his mental health has continued to decline over the past two years, so he is no longer a candidate. “You have to have a certain mindset of a certain age to be accepted into the program,” he said. “So the least I can do is start raising awareness, because this is one of the worst things you have to see.”
