When a teenage driver rear-ended and totaled her car on a Florida freeway in 2011, Kelley Douglass thought it must be one of her worst days ever. As it turned out, the accident saved her life.
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Her back aching, Mrs. Douglass consulted a chiropractor, who ordered an MRI. It revealed an abnormality in her bone marrow — “just a dot, really,” she says.
Next, she was referred to an oncologist. A mammogram showed suspicious tissue in her left breast. When a biopsy confirmed cancer, she had a mastectomy.
Mrs. Douglass received genetic counseling because her young age at diagnosis was a red flag. She answered a battery of questions about her family medical history, including what seemed an odd one: “I was asked if I had a hard time finding hats that fit.” When she replied, “Yes, all my life,” doctors ordered a blood test.
The test came back positive for a mutation in the PTEN tumor suppressor gene. With that, she says, “Pandora’s box was opened.”
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“Now I know that I have a rare disease, and every medical concern must be viewed with that disease in mind.”
The value of genetic knowledge
Phosphatase and tensin homolog (PTEN), a protein encoded by the PTEN gene, usually prevents cells from growing and dividing too rapidly. However, mutations can inactivate this protective effect and lead to many types of cancer.
Having a defective PTEN gene also meant that Mrs. Douglass might have a rare disorder called Cowden syndrome. And it so happens that one of the signs of Cowden syndrome is a larger-than-average head circumference — making it hard to find hats that fit. Mrs. Douglass, 45, learned that if she did have Cowden syndrome, she faced a high lifetime risk of breast, thyroid, kidney, colorectal and uterine cancer, as well as skin tumors.
Wanting to be safe, she opted for preventive surgeries. She had a hysterectomy and a mastectomy of what she thought was a still-healthy breast, but it, too, ended up being cancerous. At this point, a friend found research online published by the world’s top expert in Cowden syndrome, Charis Eng, MD, PhD. Mrs. Douglass made an appointment to see her at Cleveland Clinic’s Lerner Research Institute.
In their first meeting, Dr. Eng positively diagnosed Cowden syndrome. On reviewing Mrs. Douglass’ chest X-rays, she also detected probable cancer atop a kidney captured in the image.
“I was shocked,” Mrs. Douglass says. Urologist Steven Campbell, MD confirmed the assessment and diagnosed early-stage cancer. To treat the cancer, in September 2012, Dr. Campbell performed surgery to remove part of her kidney.
Now, with her cancer in remission, Mrs. Douglass sees the bigger picture. “I am no longer just a cancer patient,” she says. “Now I know that I have a rare disease, and every medical concern must be viewed with that disease in mind.”
Because of the Cowden syndrome, she knows she will need to be vigilant with medical monitoring throughout her life. She also learned that although her own disease was not passed down to her, because she is the first in her family to have it, her son and two daughters each have a 50 percent chance of having it.
Now she, and they, can act on that information.