It’s a long word — mucopolysaccharidosis.

A specialist told Stefanie to google it to prepare herself and husband, Tim, for the difficult journey ahead with their son, Bexley. She did the search, and her heart sank.

“There were no words,” Stefanie said. “You don’t ever think you’re going to outlive your kids. Sadly, it’s the
cards we’ve been dealt. But we’re also able to look at the bigger picture and know we’re blessed with the time we have with him.”

Bexley, 2, has mucopolysaccharidosis, or Hunter syndrome, a rare genetic disorder where a child’s body doesn’t properly break down certain sugar molecules.

When these molecules build up in organs and tissues over time, they can cause damage that affects physical and mental development. The specialist sent Bexley to the Royal Children’s Hospital to confirm the diagnosis, and for treatment. This includes enzyme replacement therapy every Friday. The infusion
takes three-and-a-half hours.

“We’ve written Fridays off. We don’t work on Fridays, Stefanie said. “That day is dedicated to Bexley, and it will be like that for the rest of his life.” Bexley handles the infusion sessions “like a champion,” she added.

“He doesn’t like to be pinned down, but he sits there with his iPad, and the TV. The nurses in the unit sing to him, and they laugh with him. It helps the day go faster when you’ve got that support and happiness around you. They always have a brave face on for him, and us.”

Tim said the enzyme replacement is not a cure. “It doesn’t fix everything, but it helps with some of the symptoms in his body. It will make his life better for as long as possible.” Stefanie and Tim say their boy is cheeky and a ball of energy.