Ask Dr. Mask Your Health Questions
The Make-a-Wish Foundation gave 22-year-old Christopher Paxton and his 16-year-old brother, Cody, a Disney World vacation, but the family's biggest wish came true in the halls of UNC Hospitals.
About 15 years ago, doctors diagnosed both brothers with Hunter Syndrome. Their blood lacks a key enzyme that breaks down complex sugars. The disorder leads to joint stiffness, stunted growth, damage to internal organs and premature death. The diagnosis came with no hope for treatment.
"There was nothing," said Elaina Paxton, the boys' mother. "I saw what was in store for them. I couldn't have that. I was going to die trying to find something."
Dr. Joseph Muenzer of UNC Hospitals developed a mouse model that led to enzyme-replacement therapy, which is now FDA-approved. Cody and his brother were part of clinical trials for the therapy, called Elaprase.
"Yeah, my breathing, my airway is better and I have more flexibility in my joints," Cody said.
Weekly infusions of the enzyme replacement offer Cody and his brother a much longer and less-disabled life. The hope is even greater for newly diagnosed children.
"This is a progressive physical and neurologic disorder, so the goal is to prevent problems before they occur," Muenzer said. "We now have therapy, where before we could only watch children die."
"I knew this was going to work and it's working. The FDA has now said it's approved, so it's wonderful," Elaina said.
There are only about 500 children in the United States with Hunter Syndrome or MPS-2, one of the many forms of mucopolysaccharoidosis in which the blood lacks key enzymes.
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