Family medical history … Lynch syndrome seems to enjoy running in my family, specifically in my immediate family. Eighteen years ago, my oldest brother died from colon cancer at the age of thirty-six. Words fail me when I try to describe what he went through when he tried to fight his cancer. He was this man of amazingly tall stature and physical and emotional strength – which made it all the more difficult to watch him slowly deteriorate. His suffering was immeasurable; no one should ever have to endure that type of suffering. There is so much more I would like to say but simply writing about him brings me to tears. Several members on the paternal side of the family had suffered from various cancers but colon cancer affected my father, uncle, and brother. I knew my brother was too young to die from colon cancer and realized there must be a genetic component to what was happening in our family – I just did not know to what degree. I did not want my brother’s death to be in vain so I gladly began having colonoscopies every three years.
My second brother was diagnosed at the age of forty-eight with stage 1 colon cancer in 2010 and had three feet of his colon removed at that time. Six months later on a follow-up colonoscopy, two more large malignant tumors were discovered and that is when his physician requested he be genetically tested for Lynch syndrome. All I could think was, “Oh shit! Here we go again.” He tested positive for one of the four mutations and informed me of his results and asked that I, too, be tested because our family has “Lynch syndrome.” As a result of this, he immediately underwent a total colectomy (that is another blog) while I sought out genetic counseling and testing. I had never heard of Lynch before. While I waited in agony for the results, I read every medical journal I could find that pertained to Lynch syndrome. Ten days later, I discovered I tested positive for the same mutation – I was horrified.
The genetic counselor provided me with a letter to send out to every member of my paternal family in order to inform them of their potential genetic nemesis as they have a 50/50 chance of carrying the mutation if their mothers (my father had many sisters) were carriers. Very few of them took the information seriously. Maybe they are in denial, or simply think that this will not effect them. It saddens and frustrates me that someone else in my family will probably succumb to one of the Lynch cancers because they refuse to accept the facts.
I knew I had some difficult decisions to make because of my genetic history. I reached out to many people, seeking their opinions and perspectives. Then one day, a friend told me about an article written by the late Stephen J. Gould. Gould was an esteemed evolutionary biologist from Harvard and was diagnosed with peritoneal mesothelioma and even with surgery, his prognosis was not good – according to the statistics, those with this particular disease typically had eight months to live. Fortunately, his professional training as an evolutionary biologist required a strong familiarity with statistics and he knew how to decipher the data. This inspired him to write an article for Discover magazine entitled, The Median Isn’t the Message, discussing how statistical averages are simply abstractions – they do not include the full range of variation. Gould applied this thinking to his medical situation and figured out that his circumstances would put him in the upper statistical range for a number of reasons: his cancer was detected early, he was young, had access to great medical care, possessed a positive attitude and was willing to take risks with experimental treatments. He eventually made a full recovery and his story and thoughts have been inspirational for many cancer patients. I highly recommend reading Gould’s article. Hearing that and reading Gould’s article gave me some hope. You may read in its entirety by clicking or copying and pasting on the hyperlink below: