Ten days after joining my Internet start-up company, I failed a test for the first time in my life. Here is how the test results read:
MSH2 Sequencing Report for patient number 1234-5
Results: DNA sequencing analysis of exon 12 of the MSH2 gene indicates that the mutation at IVS11-1(G>A) previously detected in this family is present.
Interpretation: The mutation has not been reported in the literature. Genetic counseling is recommended.
Editor's Note: MSH2 is one of several genes that can be inherited and which lead to the syndrome called hereditary non-polyposis colon cancer (HNPCC.) HNPCC causes those who have one of these gene mutations to have an increased probability of developing colon cancer and in some cases other types of cancers (such as uterine, ovarian, urinary tract, other parts of the gastrointestinal tract, and possibly others.)
While the patient number is not mine, the defective gene identified at the age of 34 and the special glimpse into advanced medicine are mine. The defective gene corresponds with a family history of cancer survivors. My grandmother survived colon, ovarian and uterine cancer. My father survived two bouts with colon cancer. All told, in two generations my family has seven MSH2 gene mutation carriers and six cases of colon, uterine and ovarian cancer.
In all likelihood, I will become another case. Armed with this knowledge, my personal battle against colon cancer means having annual colonoscopies to catch polyps before they become cancerous. On that April day, I accepted a personal responsibility to dedicate my skills, my resources and my passion to curbing the death rate of colorectal cancer.
One of the steps I took was to participate in a drug study that will allow National Cancer Institute (NCI) to study how to most effectively prevent the development of early cancer cells. But before I began the study, I found The Colon Cancer Discussion List, a special group of people who together are fighting to make the best of very difficult situations. This list kept me "company" as I went through my first Golytely (I used to be a Fleet Phospho soda person) experience in a Washington hotel room in preparation for my first colonoscopy of the NCI study. The Colon Cancer Discussion List continues to inspire me to push harder to fight this disease.
I represent future colorectal cancer patients in a unique and special way. Most probably, I will get early colon cancer, as will my future children, my brother, my cousins and our future generations. The problem is that the knowledge that my family has is extremely rare. Most families do not have this information. We were part of a genome study at NCI. This study gave me a special lease on my life, and I will do everything in my power to make sure that the medical community continues to learn how to screen, prevent and treat this dreaded disease.
I see the Colon Cancer Alliance as a group where I can dedicate my energy to reshaping the future of colorectal cancer. I believe that the CCA will significantly increase the screening adherence rate by providing important information about colorectal cancer to the general public and to high-risk individuals. The CCA's educational efforts will also encourage individuals with symptoms to get proper diagnostic testing. We will walk individuals and families through their screening experiences, and our compassion and experience will help those with cancer fight this disease.
Please join the CCA, take advantage of our services, and help us beat colorectal cancer.