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Delayed cancer diagnosis in family with rare gene mutation

As discussed in previous blog posts, time is of the essence to properly diagnose a multitude of medical conditions, including cancer. A failure to diagnose cancer can have serious and deadly consequences. As a result, Oregonians can suffer from delayed treatment or terminal health conditions.

One family knows the consequences of misdiagnosis all too well, as a rare leukemia gene mutation has struck several family members. Their story is one of suffering and loss. The family members are the only people in the world known to have this extraordinarily rare gene mutation.

Until recently, the family had no idea the genetic mutation was to blame for the family’s unfortunate health conditions. One family member was diagnosed 16 years ago with a disease that causes bruising and low-blood platelet counts. The condition is generally treatable and is not considered a serious health risk. This was before her uncles were diagnosed with leukemia. Her second child was also diagnosed with the same disease, but suffered from several painful symptoms. The family doctor referred the boy to a specialist, who knew immediately that he had been misdiagnosed.

When the woman started talking about her father’s health problems and his extended family’s fight with leukemia, the specialist ordered a genetic test. The test came back inconclusive.

In an unlikely circumstance, a distant cousin of the woman was also trying to have her son’s health condition properly diagnosed. This boy’s doctor ordered a more comprehensive genetic test. Incredibly, the same geneticist reviewed both tests. The geneticist noted a connection in the results and further testing was done. Finally, it was revealed that the extended family members had a rare gene mutation that leads to leukemia.

Several family members have already passed away from leukemia. In an effort to avoid any further delayed cancer diagnosis, all blood members of the family are encouraged to undergo testing to determine if they are carriers of the rare genetic mutation. The family continues to work at accepting the delayed diagnosis, and explore all available treatment options.

Source: Williamson Daily News, “Rare leukemia gene mutation strikes Virgie family,” Rachel Dove-Baldwin, Dec. 28, 2012