About 350 local residents are learning whether their recent blood test results show if they've acquired a mutation found among those who suffer from a rare blood disorder known as polycythemia vera.
A few folks told me last week that their results came in negative. A glimmer of hope.
PV is characterized by a thickening of the blood and related complications.
Results are being mailed out individually to each person who took the test, coordinated by the federal Agency for Toxic Substances and Disease Registry (ATSDR) and the PA Department of Health for residents over age 40 in Schuylkill, Carbon and Luzerne counties.
The testing was done almost two months ago and it sought to identify those with a mutation called JAK2.
The ATSDR also is expected to issue a report summarizing the results.
It's a complicated issue with more questions than answers. But what is known is that JAK2 is found among 90 percent of people with polycythemia vera.
The mutation would appear acquired through something related to the environment or some kind of environmental exposure.
"JAK2 is an acquired mutation," says Dr. Kenneth Orloff of the ATSDR. "You are not born with it."
Although the meaning of a positive test in someone who is well is not known, it is possible that people with this mutation may develop PV later in life. The ATSDR folks say that knowing this mutation is present may help health care providers to more closely monitor a patient's blood count. But at this point there is no cure for PV, only treatment methods.
All of this hubbub came about due to the elevated number of local PV cases. According to reports, the PV blood disorder is being found with alarming frequency in the region.
Statistically, it is expected to appear in one or two people per 100,000 population. However, in one local neighborhood, multiple cases were found along one single street, including two cases in the same household. The cause is unclear at this point, except for the strong suspicion that some type of environmental contamination is the culprit. Some point to human contact with formaldehyde used in foam insulation, and even the presence of radon in homes, as suspected causes.
I don't know if those two theories are likely.
But I do believe that the high incidence of PV in our area is another example of a breakdown at all levels of government. Just as the current toxic Superfund sites were created under the oversight of government agencies (another breakdown), the emergence of a high number of cases of PV represents failure by government bureaucracies - the Department of Environmental Protection, the earlier Department of Environmental Resources, Health and Human Services, Homeland Security, and on and on.
It seems most public health issues elevate to the point of c