Found in the Nick of Time: Colon Cancer Mutation

I was stunned when the genetic counselor informed me that I have a genetic mutation that increases my risk of developing colorectal cancer. The blood test results, which I had anxiously awaited for several weeks, proved conclusively that a defect exists in my hMSH2 gene on chromosome 2. Certainly, I knew from the genetic counseling my wife and I received that there was a 50-50 chance of inheriting the defective gene that caused the colon cancers that prematurely took the lives of my mother and grandmother. I thought I would beat the odds: I didn't!

After the initial shock of the disappointing news, there was a feeling of relief...

After the initial shock of the disappointing news, there was a feeling of relief because what I had always suspected had now been proven to be true. In my case, the discovery was a wake-up call. Over twenty years ago, while in my 30's, polyps had been found during the proctoscopic exam with my annual physical. They were removed and found to be benign. Several years later the scenario was repeated. Then, for a few years there were no polyps. Shortly afterwards, complacency set in and the annual exams became less and less frequent. There was no excuse for not getting the exams; examination equipment using thin glass fibers had been developed which made the exam more thorough and comfortable. However, I no longer got exams on an annual basis. Besides, at that time, who really knew if I needed exams every year?

...I scheduled a colonoscopy.

Wake-up time! Immediately after receiving the genetic test results, I scheduled a colonoscopy. The result: polyps with dysplasia were found and removed. I have now resumed annual exams with good results and, this time, I intend to maintain a vigilant schedule. After all, the genetic test proved that I do need them. Thank you.

...I intend to maintain a vigilant schedule.

I have always considered myself fortunate in many ways. Once again, I was fortunate: first, to find out about and be accepted into a genetic risk assessment and testing program. Second, the counselors and administrators my wife and I had the pleasure of meeting were very courteous, informative, and professional. Further, the timing of my results was auspicious for it awakened me and allowed sufficient time to take action which may have prevented more serious consequences.

I am probably among the few to have benefited from genetic testing. Its future, however, holds unlimited potential for millions in the areas of detection, prevention and, ultimately, genetic repair for some of today's life threatening diseases. The privacy and confidentiality issues will eventually get resolved, costs will become more affordable, and medical science will have made a quantum leap forward.

- Anonymous Johns Hopkins Hospital patient

Looking out to Sea