N.C. teen with Fabry's disease becomes first child in U.S. to get FDA-approved treatment

Wednesday, October 8th 2003, 12:00 am
By: News On 6

RALEIGH, N.C. (AP) _ On her son's worst days, Ann Lawson would hear shrieks as burning pain suddenly, inexplicably, shot through the 8-year-old's feet while he was trying to play on the family farm.

``He would just scream with pain in his hands and feet,'' Lawson said. ``And then it would go away.''

Derek Lawson may finally get some relief from what doctors diagnosed as Fabry's disease, a rare, deadly, genetic disorder that keeps his body from breaking down a naturally occurring fatty protein.

A treatment approved by the Food and Drug Administration in April _ Genzyme Corp.'s Fabrazyme _ replaces a fat-metabolizing enzyme that Fabry's patients lack.

Derek was the first child in the United States to receive the treatment when he started the every-other-week infusions in July. He is among about 200 people in the country who now get Fabrazyme.

The buildup clogs Derek's arteries, keeps him from sweating and destroys his kidneys. He can't walk far without the pain forcing him into a wheelchair.

``It's almost like somebody who hasn't put out their trash for several years,'' said Dr. Marie T. McDonald, an assistant professor at Duke University Medical Center in Durham who helps treat Derek. ``As life continues, more and more trash accumulates.''

An estimated 5,000 people in the United States _ mostly adult men _ suffer from Fabry's disease. Most die from kidney failure, heart disease or other complications by the age of 50.

``I was really surprised, because they said I was like one in a million men and they didn't have anything that could help me much,'' Derek, 13, said Tuesday.

Derek left his home in Church Hill, Tenn., on Tuesday, headed to Duke for his latest treatment.

He will spend at least seven hours in the hospital Wednesday, much of it hooked to an IV that will pump the enzyme into him.

Duke treats four patients and is preparing to add three more, McDonald said. Derek is the youngest and has the best chance of living normally, even though he may have already suffered some irreversible nerve damage in his hands and feet, she said.

``Looking to the long term, we would hope that Derek would live to be an old man,'' McDonald said.

The treatment costs $170,000 to $180,000 a year, said Genzyme spokeswoman Sarah Datz. Insurance covers much of the cost for Derek, Lawson said.

Doctors have assured Lawson that within six months, Derek will be more like a typical young boy than he ever has been. ``We would hope in a young child, there's more of a chance of him recovering,'' McDonald said.

Derek says he wants to shoot basketball for a while longer during gym class and be able to play other sports.

``I'm looking forward to being able to do all of it,'' he said.