Stefan Gacic’s lifelong struggle with an extremely rare genetic disorder has become easier to deal with since being introduced to the treatment of VIMIZIM.
Verica Gacic, Stefan’s mother, noticed something very different with him at the tender age of two. Stefan’s chest was large for his age, he was walking abnormally, and his back was noticeably curved. Ear infections also became the norm, so Verica sought out medical help. Stefan underwent about six months of tests. He was eventually diagnosed with Morquio A syndrome at the age of three.
“They are born with that syndrome,” Verica said. “(But) it doesn’t appear right away. They look normal.”
Morquio A has been diagnosed in roughly 100 Canadians. Stefan is the only person in London who has the rare disease. It’s an inherited disease that interferes with the body’s major organs. Those who have the disease can’t break down glycosaminoglycan molecules because they can’t produce enough enzyme or protein.
The enzyme’s job is to break down and recycle the waste our bodies don’t need. If that doesn’t happen, glycosaminoglycan then builds up in major organs and there lies the breeding ground for several life-threatening problems.
Stefan still had a very normal childhood. He was happy. He played sports. He was — and still is — very humorous. Verica pointed out that he was always very sociable and could make others smile at will.
“He was playing soccer as a child, until seven or eight, when he had spine surgery,” Verica said.
Stefan tolerated the effects of the disease for eight years, but then when he reached age of nine his health started to rapidly decline. It became hard for him to breathe, he was almost rendered completely deaf in his left ear, and he underwent surgery to help stabilize his vertebrae.
“He couldn’t go over one step out front without help,” Verica said.
“I could. I was just tired,” Stefan quickly retorted.
Stefan explained that at his absolute worst he got tried very easily, and constantly ached all over. This went on for a year until the Gacics agreed to a clinical trial for VIMIZIM.
Three years later, Stefan is now 14 and on the upswing. Verica says that her son has an easier time getting around and his stamina has noticeably improved. A situation that what was once a very difficult one doesn’t seem so daunting for the Gacics now.
“I can hang out with my friends the whole day, play soccer with them, and beat them up,” Stefan said jokingly.
Though VIMIZIM has helped the Gacics, it is not a cure. In layman’s terms, it’s a weekly infusion that acts as an enzyme replacement. The enzyme replacement helps break down the waste that the body couldn’t on its own.
“He doesn’t get sick as much,” Verica said. “Before, any cold would turn into some kind of infection. He didn’t get sick at all last year.”
The Gacics told a story about a 14-year-old girl who was wheelchair-bound because of Morquio A. She participated in the trail phase alongside Stefan. At the trials, they had tests to calculate all the kinds of improvements each patient was making. One test in particular was called the “stair test.” This 14-year-old girl could only manage to walk up three steps before VIMIZIM, and today, 60. It’s not a cure, but an extremely successful treatment.
Although VIMIZIM is now out of the trial phase and approved by Health Canada, it’s still not available for those dependent on public funding. It’s only available to those who were involved in the trial phase or have private drug coverage. It is extremely expensive.
“It could take five years until it’s accessible to everyone,” Verica said disappointingly.
VIMIZIM and a combination of hope and perseverance has seemingly performed a small miracle for this family, and they hope other families will experience the same revelation.
“It’s really helped the patients. It’s really benefitting them and we want the government to approve it and start the public funding. It’s given us hope to live a normal life,” Verica pled wishfully.
VIMIZIM represents hope, a hope that should be accessible to everyone as soon as possible.
By Justin Ford, Special to the Londoner