Fed agency focuses on rare disease in Schuylkill, Luzerne and Carbon counties

Fed agency focuses on rare disease

BY SHAWN A. HESSINGER
TAMAQUA BUREAU CHIEF
shessinger@republicanherald.com
03/10/2007

A federal agency has interviewed 51 patients who claim to have contracted a rare blood disorder in the region and say the state Department of Health’s cancer registry lists 97 total diagnosed with the disease since 2001.

Vince Seaman, toxicologist with the Agency for Toxic Substances and Disease Registry, said his agency still hopes to talk with more people diagnosed with polycythemia vera, a rare disease characterized with production of excess red blood cells.

He said data, including voluntary blood samples, would help determine the agency’s next step.

Hometown resident Joseph Murphy has been among community volunteers supplying data to the investigators and said he hopes the attention will raise awareness of the issue.

Murphy said Seaman, now circulating a toll-free number (1-866-448-0242) for those willing to be interviewed, has already received many calls and will continue interviews at least through the end of March.

“And a lot of them are people who moved out of the area and were diagnosed with it later,” Murphy said.

Seaman said the federal agency, originally created to assess potential health risks near federal Superfund sites, became interested in interviewing residents because of what appears to be an unusually high incidence of the disease locally.

Frequency of polycythemia vera, which became reportable to cancer registries in 2001, is estimated to be 1 in 100,000, Seaman said.

Investigators have examined an area including Schuylkill, Luzerne and Carbon counties.

Because this area’s population is estimated at 500,000, it might be expected to see five cases per year or 25 cases over five years instead of the 97 cases reported from 2001-05, the only period from which data is currently available.

Murphy and other residents have suggested a correlation between polycythemia vera, other local health disorders and past industrial practices that have included illegal toxic dumping.

However, Seaman said no documented cause for the disorder has yet been determined, making it hard to draw such connections between the disease and the environment.

“So the data we’re collecting will be important,” he said.

Caused by a genetic mutation, Seaman said the disease is known not to be inherited but certain factors may predispose an individual.

Seaman said he is hopeful exhaustive investigation into the possible exposures of residents who have contracted the disease may prove valuable when a cause for the affliction is determined.

©The REPUBLICAN & Herald 2007