Joanne Garnett has harrowing memories of that life-changing day back in 1981. She was a 39-year-old land use planner living in Wyoming when she received a call from her doctor confirming she had uterine cancer.
â€œI was shocked, and it was strange because I didnâ€™t fit any profile for uterine cancer,â€� Garnett recalls. â€œI got a complete hysterectomy, and I figured, well, thatâ€™s that.â€�
But it was just the beginning. A decade later she was struck with stage 2 colon cancer, then kidney cancer.
â€œI underwent chemo and radiation, had a portion of my colon removed, then I lost my right kidney, and I thought, ‘Who has this kind of luck?’â€� she says.
As an adoptee, Garnett was not aware of her family medical history or the hereditary genetic mutation lurking deep within her DNA. The discovery came from a simple blood test.
â€œI got the results back and it showed, yes, indeed, I had one of the four types of the genetic defect that is Lynch syndrome,â€� she says.
Lynch syndrome is a cluster of inherited mutations that increases the risk of several cancers, including colorectal, kidney and uterine cancers. It generally strikes before the age of 50. Itâ€™s caused by changes to genes that affect DNA mismatch repair â€” a process that fixes mistakes when DNA is copied. These genes normally protect a person from getting certain cancers, but mutations prevent the genes from working properly.
Discouraged, yet determined, Garnett made an appointment with Niloy Jewel Samadder, M.D., a gastroenterologist and cancer genetics expert with Mayo Clinic Center for Individualized Medicine in Arizona.
â€œHe helped me realize it is a gift that I know that I have Lynch syndrome because now I know what I need to do in order to stay in front of it as much as possible,â€� says Garnett. â€œItâ€™s his level of care and diligence and attention that brings me peace at night.â€�
Read the rest of the article on the Individualized Medicine blog.
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