John E. Niederhuber, M.D.
Director of the National Cancer Institute
Jeanne McCoy's grandmother and mother both suffered from von Hippel-Lindau syndrome 60 (VHL), a genetic disease that can manifest itself as a combination of nearly 600 types of cancer. For Jeanne's grandmother, the tumors appeared first on her retina (she went blind at the age of 30) and also on her brain stem. Eventually the cancer invaded her kidneys. Jeanne's mother, who was told at a young age that she did not have VHL, was shocked to learn later in her life that this diagnosis was wrong. That family history led Jeanne to search the Internet, where she learned of the recently-identified VHL gene. Jeanne sought out the National Cancer Institute, where Dr. Marston Linehan was leading a team of researchers who were working at the cutting edge of VHL—both in the laboratory and in the clinic.
Because of the late stage of her cancer and her family history, Jeanne's mother was quickly accepted into the clinical program at the NCI. There, she was confirmed to carry the VHL mutation. Several months later, Jeanne sent her own blood sample and records to NCI. The results confirmed that Jeanne also carried the VHL mutation.
To Preempt Cancer at Every Opportunity
To Ensure the Best Outcomes for All
Jeanne had no symptoms of kidney cancer. In fact, at age 34, she had given birth to her third child a year earlier. Except for faint back pain, something many new mothers experience, Jeanne felt ?ne. But she also knew that the VHL mutation suggested a frightening fate. So Jeanne consulted her local oncologist, who advised her to undergo an ultrasound and CT-scan in a hospital near her Greenville, South Carolina, home. Within hours, she learned that both her kidneys were riddled with cysts and tumors that, if untreated, would eventually kill her.
Within two weeks, Jeanne was headed for Bethesda, for more testing and consultation, and treatment at the National Cancer Institute. While hospitalized for the second of her kidney surgeries, just before Christmas 2003, Jeanne met Dr. Linehan, who came to see her in the surgical intensive care unit at the NIH Clinical Center, the world's largest hospital dedicated to clinical research. "He sat down and talked to my husband and me," she recalls. "And suddenly he put a real, personal face on the research; we realized that this wasn't about scientists lost in a lab, it was about people, and about early diagnosis and detection, and about finding a cure."
Jeanne McCoy is doing well, but she is not cured. All of us owe a huge debt of gratitude to her and many other cancer patients for their willingness to join us in defeating this devastating disease, by participating in clinical research and trials. For the sake of Jeanne and her family, and the countless others like them, we need to make more progress more quickly.