Diane Believes that Genetic Testing Can Make the Difference Between Life and Death
Many families are very private about things like cancer and other medical conditions. They just don’t talk about these things. But having this information can mean the difference between life and death. Most families get together at times like the holidays to share a meal. As you go around the table and talk about what you are thankful for, why not start a conversation about your family’s medical history? Why not give each other the gift of life-saving information? What a blessing if you can go around the table and find out that your family is incredibly healthy. What a huge blessing if you can go around the table and discover that you have a hereditary cancer syndrome and knowing it could literally save the lives of some of those around that table! Give your family the gift of life this holiday season! I gave my family the gift of knowledge which has turned out to be the gift of life and has changed the course of my family’s history.
My family knew we had a “family cancer.” For a long time, we did not know that we actually have a hereditary cancer syndrome. It has a name and everything. Lynch Syndrome, aka Hereditary Nonpolyposis Colon Cancer, aka HNPCC. I think we all knew it had to be hereditary. Five generations, 13 people, twelve kinds of cancer, 10 deaths, up to six kinds of cancer for just one person. We definitely knew we had a big problem with cancer.
Our predominant “family cancer” is colon cancer. My great grandmother had it. My grandmother had it. My aunt, uncle and mom had it. Then it hit my generation. My cousin lost his life to it at 31. Because we knew we had to look out for it, I was getting annual colonoscopies for years. I had my family cancer history. I showed it to every single healthcare professional. I was afraid of getting cancer. Ten out of 13 people in my family died from cancer, and not just colon. We also had endometrial, skin, bladder, prostate, lung, gastric, pancreatic, breast, liver, salivary gland and, worst of all, brain cancer that heartbreakingly took my nephew’s life at 19.
Finally, after years of getting scoped, I showed my family history to my new GI healthcare professional and she said, “I think your family has something called Hereditary Nonpolyposis Colon Cancer.” What? The only word I really understood was the word hereditary. That rang true. She recommended I go to see a genetic counselor to learn more about it. I did not go. I did not want to find out I actually have what I considered at the time a genetic death sentence. I did not see any benefit to knowing I have something that had decimated my family. I was already getting scoped every year. My son was already getting scoped every year. We were “being careful.”
Three years in a row my new GI healthcare professional asked me if I had gone to the genetic counselor. No. I had not. She finally said, “The reason I am scoping you every year is that we are assuming you have this. If you have it, we will continue doing what we are already doing to screen you. If you do not have it, we can stop scoping you every year.” Wow, why didn’t you say so? I can stop going through the annual prep and scope? Now, that would give me a reason to know this.
I went to the genetic counselor and was given a wonderful education about this thing called Lynch Syndrome. I was given statistics about the risks for someone with it. I was also given the reasons that knowing I have this would be a benefit. I found out that it was not a death sentence. That knowledge is power. That knowing I have this could actually save my life by helping me to find any cancers in the early stages. That I could actually prevent cancer. Wow. If only I had known what a good thing knowing would be, I would have had the testing right away.
After hearing the benefits to finding out if I had this, I decided to move forward with testing for myself. I also took on the task of talking to my family about this thing that we all might have. I called each of my sisters on the phone and said, “Hey you know how we have always thought that our ‘family cancer’ is probably hereditary? I went to see a genetic counselor and learned all about what we probably have. The test to find out is really simple. We can either have a blood test, or a simple ‘swish and spit’ test to see if we have inherited Lynch Syndrome.” I explained to each of them all that I had learned and that if we found out we have this it could be life-saving. I made other calls to aunts, uncles and cousins. Not only did I tell them what I had learned, I asked detailed questions to get a better, more detailed, factual grasp on our family history. I made a five-generation list of who had battled cancer, age of diagnosis, type of cancer and, sadly in many cases, age of death. This was very helpful information for the genetic counselor to determine what kind of hereditary cancer we might have and to know what genetic mutations to test us for.
Fast forward, I have Lynch Syndrome. My son had a 50% risk of inheriting it from me. HE DID NOT – best news ever! I am one of four daughters. Two of us inherited it, two did not. We still have some family members that have not yet been tested.
Since finding out we have Lynch Syndrome we have had ZERO cancer deaths. I have personally had cancer found six times in the precancerous stage, before it ever had a chance to become cancer. I have proactively taken control of my medical destiny. I have had preventive surgery. My cousin that died so young has two daughters. One of them inherited Lynch Syndrome. She also had preventive surgery. We are all getting annual life-saving medical surveillance, more than just the colonoscopies we were previously having. We have been given the tools to prevent cancer and/or catch it in the early stages.