Sunday, November 30, 2003
Photo
Pittsburgh relief pitcher Joel Hanrahan is headed to Boston after a six-player deal between the Pirates and Red Sox.
One family has been hit hard by Fabry disease.
PITTSBURGH (AP) -- By the time he was 12, burning pain had begun to shoot through his hands and feet; by the time he turned 40, his kidneys had become small masses of scar tissue. But no one knew what ailed Ron Callahan.
When he was a boy, his parents sometimes thought the pain was all in Callahan's head. By the time doctors discovered he was suffering from kidney failure, the organs looked like walnuts -- too small for biopsies that might have offered clues.
Four years ago, Callahan, 54, of Johnstown, started to hear familiar complaints from his grandson, Phillip Marisa, and knew he had passed a mysterious illness to the then 8-year-old through his daughter.
But it wasn't until Callahan's younger brother, Rick, also had a kidney transplant in August 2002, that doctors had enough evidence to finally give the disorder a name: Fabry disease.
"It's good to know what it is and it's not good to know. I'm kind of stuck in the middle with this because I don't want Phillip to experience what I experienced, but at least I'm here for him," Callahan said. "At least we found out around the time a treatment was developing."
About the ailment
A rare genetic disorder, people with Fabry disease lack an enzyme called alpha galactosidase A that helps the body break down lipids. The accumulation of these lipids, or fatty deposits, on blood vessel walls can lead to burning pain in the hands and feet.
Other symptoms include diarrhea, nausea and abdominal pain. Those who have the disease are at risk for heart attacks, stroke and kidney damage.
Callahan lived most of his life in searing pain, working as a steelworker before taking a disability leave last year. It wasn't until he was vomiting every morning that Callahan underwent a string a tests that showed his kidneys had nearly shut down. He had a kidney transplant in July 1988.
Years later his grandson started to experience similar symptoms: the burning pain in his feet and the inability to sweat. The now 12-year-old boy's parents, too, didn't always believe him when he reported searing pain that felt like "someone cut your feet and then stuck matches in them," Phillip said.
"We thought, sometimes, that he was just saying he was in pain because he wanted to get out of family chores and duties," Joe Marisa said. "You wouldn't believe how guilty we feel about that."
Treatment
The Fabry Support & amp; Information Group believes the disease strikes 1 in 40,000 people. But Dr. John Barranger, a geneticist at Children's Hospital of Pittsburgh, said the population could be larger because, like Callahan and his grandson, many go undiagnosed. The average age of patients when they are diagnosed is 17, Barranger said.
In April, less than a year after doctors diagnosed Callahan and his grandson, the Food and Drug Administration approved a treatment -- Genzyme Corp.'s Fabrazyme -- that replaces the enzyme that Fabry sufferers lack.
Now, Callahan and his grandson travel to Pittsburgh once every two weeks for the enzyme treatment that only about 1,000 other people in the world receive.
Barranger, who treats both grandfather and grandson, said the treatment will stop the lipids from accumulating. Although the findings have not been published, the drug company has collected general data that indicates enzyme treatment recipients experience less pain and are more active as time goes by.
Phillip, who started the treatment on Oct. 3, still feels the burning pain and is struggling with his illness.
"It's really hard for anybody to understand what you're going through when you have these pains," said Callahan, who started his treatment about eight months ago. "People think you're really making this up. This not only gets into your feet and hands, but it gets into your brain, too."