The Born Identity

A pathologist’s journey of genetic self-discovery yields potentially lifesaving findings.

Certain careers provide opportunities for profound irony, with medicine being an obvious example. Consider the neurosurgeon who develops a rare brain tumor or the nephrologist who suffers from kidney failure. For me, as a 54-year-old pathologist in 2012, I experienced a similar irony while looking down the oculars of a microscope at a piece of tissue taken from my body. A powerful realization hit me — I had a genetic condition that was undefined as yet but, if left untreated, would result in cancer. I needed to figure this out for myself, my wife, and our six sons.

Prior to this point in my life, I was one of those guys who thought he had a pretty healthy genetic heritage. Cancer was largely unknown on either side of my family. My dad was still healthy in his early 80s. My mom’s story was uneventful until 2007, when, at age 75, she was discovered to have a rare carcinoma of the small intestine. She had extensive cancer in her abdomen and died in the winter of 2008. That was four years before I discovered my problem.

At the time of her death, I had already had one colonoscopy, which had identified no problems. I see so much colon cancer that I had decided to start my own screening at age 45, instead of the recommended 50. I had a second colonoscopy at 51. My gastroenterologist found six small polyps. I thought that was a bit unusual but it was not unheard of. They were very small and inconsequential polyps — or so I thought. In my follow-up visit to the gastroenterologist, I mentioned my mom had died from small intestinal cancer. He reminded me that the recommendation is a colonoscopy every three years if you have a close relative with a history of gastrointestinal cancer.

All of this was happening to me during a revolutionary time for pathologists: The genetic code had been deciphered to a large extent and the genetic defects in cancer were being rapidly elucidated.

It was a recommendation I followed through on, and it saved my life. Three years later, in 2012, my doctor found more than 30 polyps. One was so big that it had to be removed laparoscopically. He could not imagine how, in three years, my colon could grow that many polyps. It was these precancerous polyps that I was looking at through my microscope. But my polyps looked the same as the more common spontaneous colon polyps. The answer to my question was not going to be found by looking through a microscope but instead by looking in the literature.

After that fateful colonoscopy, I did some research about the two genetic colon cancer syndromes that I was aware of: Lynch syndrome and familial adenomatous polyposis (FAP). Neither fit my case; they were both autosomal dominant conditions, and so I should have had some family history, unless I was a spontaneous mutation. I had too many polyps for Lynch and too few for FAP. But in reading about FAP, I came across something called attenuated familial adenomatous polyposis. It turns out that a slightly different genetic defect produces a milder form of the disease; instead of the hundreds or thousands of polyps in classic FAP, you get dozens.

But there was still a problem. Attenuated FAP is also autosomal dominant. At least one of my three siblings, a parent, or other close relative should have had this condition. Further reading about attenuated FAP led to a fourth colon cancer syndrome called MYH associated polyposis (MAP). This shows up in your 50s with dozens of polyps, and it was autosomal recessive. I wouldn’t necessarily have a family history. After a visit to the genetic counselor, we sent off a blood sample, and sure enough, I had two abnormal copies of the MYH gene. This was one of the more recently described hereditary colon cancer syndromes. Most physicians were unaware of it. It is similar to Lynch syndrome — a defect in DNA repair.

All of this was happening to me during a revolutionary time for pathologists: The genetic code had been deciphered to a large extent and the genetic defects in cancer were being rapidly elucidated. This revolution had been a particular interest of mine, an added irony to my situation. The appearance of a tumor under the microscope was being matched in importance by the genetic defects identified.

After the largest polyp was removed, I had several colonoscopies every three to six months over a year and a half to have the remaining polyps removed. By December 2013, I had just a couple of polyps. In September 2014, I had six small polyps, and by July 2015, I had two tiny polyps.

When identified early, MAP patients can receive colonoscopies or have a colectomy. Most choose the colectomy. I will continue to have periodic colonoscopies but will keep the colectomy option open. I’ll swallow the camera pill that examines my small intestine and keep an eye on my bladder, pancreas, and other organs that have an increased risk of cancer. I can work, write, think, and paint. I can be a loving husband to my wife, who has an immeasurable level of patience and fortitude. For my sons, I hope I can be a wise and loving father. I have already had a profound effect on them genetically, but I hope to continue to influence them intellectually and spiritually.