Just 13-years-old, Derek Lawson knows what it feels like to be dependent on medical care to survive.
Since early this summer, he has been making the trek from his home in Kingsport, Tenn., to the Duke University Medical Center every other week in order to receive a five-hour therapy to treat a deadly inherited disorder known as Fabry Disease.
Untreated children like Derek who have this disease endure severe cases of pains in their hands and feet live to about 40 years old before having renal failure, a heart attack or cererovascular disease.
This past summer, however, a new treatment called Fabrazyme was shown to reduce the painful symptoms of the disease. By infusing a replacement for a malfunctioning fat-breaking enzyme, abnormally accumulating fatty substances can be reduced and potentially life expectancy can be extended.
Derek, the first child in the U.S. to receive this therapy, is one of nine patients currently involved in a study on the new Fabrazyme treatment at Duke.
Groggily lying in a hospital bed in the pediatric ward, Derek said he is "feeling good" while the artificial enzyme is intravenously fed into his body, but still vividly remembers how it felt not to be in therapy.
"I had intense pain in my feet and hands," he said. "But I didn't think there was anything to do about it."
Sitting in a corner of the small patient room, Ann Lawson intently listens to her son retelling what he's had to endured.
"It was terrible. We had no idea what was happening to him--and neither did his pediatrician," she said. "We went to the shriners, rheumatologists, the University of Tennessee and... Vanderbilt University, but they said that they didn't think they had anything to offer."
Although Fabry Disease was first identified by two dermatologists in 1898, treatment options have been severely limited by the fact that only one in 400,000 people worldwide are affected by the disease and it is difficult to diagnose.
"It's taken a long time to find a treatment for Fabry Disease," said Angela Henrich, genetics counselor and coordinator of the Fabry Treatment Study at DUMC. "Doctors have been working on a treatment since the 1970s, but it's taken 16 years to identify and sequence the gene responsible for the enzyme [malfunction]."
While the new enzyme infusion treatment will improve the quality of life for people with the disease, the infusion's effects only last two weeks.
Derek spends three days every other week in the Children's Hospital, missing substantial amounts of school to make the commute from Tennessee to Duke.
"It's been hard doing my work when I'm not being taught [by my teachers]," said Derek, who said one of his favorite subjects in school is science.
The biweekly trips to Duke are taking a toll on Derek's mother and sister, who bought a van specifically to make the 12-hour round-trip drive to DUMC and back. They are cognizant of the fact that each treatment Derek receives is costing them and their insurance more than $8,000.
"[Derek's condition] has changed everything. It's been an extra expense and has been very long and tiring," Lawson said.
Nonetheless, Derek continues to try to be a typical teenager, leaving his friends unaware of the seriousness of his condition as he still enjoys playing basketball, fishing and hunting with them.
"My friend's don't know what I've got, and they just think that it's neat that I get to travel so much," he explained with a grin.
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