Niagara Gazette

November 21, 2011

WITHOUT WARNING: Pendleton woman wants others to know shortcomings of current genetic testing

By Michele Deluca
Niagara Gazette

NIAGARA FALLS — Kathleen Maxian is not just fighting for her life. She may well be fighting for many other lives, as well.  Hers is not just a battle against ovarian cancer, for which the Pendleton woman has endured surgery, chemotherapy and a grim prognosis.  She’s also battling a medical system she believes could have saved her from the illness by giving her warning.

Her story is making its way across the nation, led by recent media coverage in the New York Times and on CNN — and the events leading to her diagnosis are placing a spotlight on genetic testing and the patenting of human genes by corporations.

Maxian is certain that genetic testing might have helped her avoid the cancer trauma she currently faces and a diagnosis that gives her a 20 percent chance of survival.

Her challenges began several years ago, when her younger sister, Eileen Kelly, was diagnosed with breast cancer.

Concerned about the possibility of having inherited the gene for the disease, her sister had genetic testing and the whole family — including the sisters’ parents Ann and Arthur Kelly of Lewiston — breathed a sigh of relief when the tests came out negative for a breast cancer gene.

But, her sister was not offered a secondary,  more current test developed by a Myriad Genetics, a corporation that holds a patent on the genes that cause breast cancer. The test her sister was given, which Myriad developed called BRCA, catches most but not all of the breast cancer genes. The second test called BART, which costs $700 and can pinpoint the remaining breast cancer genes, would have been suggested had there been a known family history for breast cancer. At the time, there was no known history in Maxian’s family.

Kathleen did not know her family was susceptible until she was diagnosed with ovarian cancer and her Roswell Park doctor asked if she had taken the secondary test.

Had she done so — and had she received warning that she was positive for the gene, which also causes ovarian cancer — she would have chosen to have  a propholactic hysterectomy where her ovaries and uterus removed, she said, to prevent a cancer from growing.  She did take the secondary test after her diagnosis and it was confirmed she had the cancer-causing gene.

Maxian’s surgeon, Dr. Nefertiti duPont, director of the High Risk Ovarian Cancer Screening Clinic at Roswell Park, said that while only ten percent of cancers are hereditary, she wished more companies could get involved in the research of genetic testing. Currently Myriad is the only company that does testing because of its government issued patent.

“It would be nice if we had more collaboration, more researchers around the country that were able to evaluate the gene testing to see if the testing we do now is the best that we have,” duPont said.

duPont also expressed concern that the $700 price of the secondary test is not covered by many health insurance companies and noted that the women like Maxian could help bring the testing issues into the public arena.

“Kathleen is very educated, she's very thorough , she's very aggressive,” duPont said. “Not everyone will be like her but certainly (she helps) pave the way for other patients that may not want to ask questions or may be afraid to ask the insurance company ‘why aren't you covering this?’”

As such, Maxian is using the unwanted media spotlight to get the word out about the failures of current genetic testing systems and gene patents, as well as the early warning signs of ovarian cancer.

“The big project is to empower women by helping them gain understanding of the symptoms of ovarian cancer,” Maxian said during a recent interview in her Pendleton home.

Knowing the symptoms can help women get a diagnosis earlier and offer a better chance for survival as stage one ovarian cancer has a 90-95 percent cure rate. In more advanced stages the prognosis is not good, she said.

Unfortunately, the symptoms for ovarian cancer are vague and common, including bloating, feeling of fullness after eating small amounts of food, lack of energy and indigestion (see sidebar for full list). The important difference is to note when the symptoms are new and persistent, she said.

“You need to go to your doctor and say, I’m having this bloating. Don’t pat me on the hand and say, ‘no, that’s all part of aging,’” she said. “You need to say, ‘I know my body and this is a real symptom.’”

 I don’t want to create mass hysteria,” she added, noting that the chances of getting ovarian cancer are one in 70, compared to the chances of getting breast cancer, which are about one in eight.

As for the legalities behind a single corporation owning patents on human genes, Maxian hopes her story can fortify efforts to halt such exclusiveness.  Currently, a class action suit is pending through an American Civil Liberties Union, she said.

“I don’t want this to happen to anybody else. I’m going to do everything I can, even if that just means helping one other woman,” she said.

Contact Features Editor Michele DeLuca at 282-2311, ext. 2263.