lunes, 8 de julio de 2013

Kyle Koeppel: Genetic Testing

Kyle Koeppel: Genetic Testing





Kyle Koeppel









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Genetic Testing



Posted: 06/24/2013 3:29 pm










About 21 years ago, on May 23, 1992, my mommy died from colon cancer at the age of 38. I was 7 and my brothers were 5. In November of 1990, she had an improperly-performed colonoscopy. Her cancer was not detected until three months before she died. Her cancer quickly spread throughout her body, ultimately reaching her brain. It turns out that she had a genetic mutation, Lynch Syndrome, which caused her cancer. Her father later died from cancer caused by the mutation, and her grandfather did as well. At the time my great-grandfather died, cancer was taboo. When my great-grandfather died, my grandfather was a baby. My great-grandmother remarried and never told my grandfather that the man who raised him was not his biological father -- a fact he did not learn until he was in his 40s. The failure to discuss how my great-grandfather died prevented my grandfather from properly warning his own children that they could be at a greater risk for cancer, and also enabled him to avoid dealing with the greater risk he faced. All three of his children have Lynch Syndrome. My uncle is the only one who remains alive, as both his sisters died from cancers caused by the mutation.
I have the mutation, but fortunately my brothers do not. Each child has a 50 percent chance of having the mutation. The mutation is a DNA repair mechanism error, and during DNA replication a mismatch can happen, causing a variety of cancers -- colon, pancreatic, ovarian, stomach, etc. While there is no way to prevent the mutation from occurring (at this point in time), there is a plethora of screening that can be done to make sure that should the repair mismatch occur, any cancer is detected will be in its earliest stages, in which it is most curable/treatable.
My life has been filled with a lot of loss. By the time I was a freshman in college, I had lost a large part of my biological family from cancers caused by the mutation. Dealing with losing my mommy has been and will continue to be something I face. Growing up I was constantly in search of my own identity -- something I felt I lacked because of not knowing my mommy. In as much as I did not get to know her, I cannot pinpoint the ways I am like her or not. In my DNA, it is clear that I am like her. What I can take from the past is that I will not allow my DNA to ruin my future. I am proactive -- I screen every year -- and I will continue to screen throughout my life.
Starting the Inquiry: Why did I have genetic testing?
Step 1: Family history
Many members of my mommy's (I use mommy because I have two moms -- my biological mommy who passed away, and my mom whom my dad married thereafter) family, among several generations, have passed away from similar cancers. Were these cancers related in some greater way?
Yes. My dad had witnessed the cancer trend on my mommy's side of the family and spent my childhood attuned to how he could best protect my brothers and me from cancer. At the age of 38, my mommy died from colon cancer. Her great grandfather died in his 20s from cancer. Before I had reached the age of 19, my mom's father and sister also died from cancers caused by the mutation. However, none of the above listed people knew they had a mutation. When I was a senior in high school, the geneticist who later uncovered my mutation, and in fact was one of the people who discovered its existence, spoke at an assembly at my school. At the end of the presentation, I approached him to tell him that what he described sounded eerily similar to my own family's situation. After learning my name, he told me that he had been speaking to my dad for years, and when I turned 18 I could be tested for the mutation. It was my dad that championed the mission to determine whether I in fact had a genetic mutation, and I am forever grateful that he did. When I finally was tested, it was uncovered that I, along with those I have lost, have Lynch Syndrome.
Step 2: Did I even want to know? Would it be helpful or hurtful to my wellbeing to know?
There are many ways one can react to the knowledge that he or she has a genetic mutation. I find that the more I discuss the subject with people who have a family history of cancer, the more I discover people who are truly afraid of how the results will impact their lives. For me, it could only have had, and did have, a positive effect on my life. Before I ever learned that there was a genetic component to my mommy's cancer, I just assumed that I too would die by the age of 38. Needless to say, I acted recklessly, scared that I could control neither my body nor my life. I do recognize, however, that not everyone is like me. Not everyone reacts to the loss of a parent by assuming that they too will die from the same cause. For those people, I do understand how learning about a mutation can be a scary possibility; however, I think death is the scariest thing, and anything that can hold it off, and allow me to live the longest life possible, is worth trying.
Step 3: Now that I know about my mutation, what do I do about it?
I screen extensively. Colon cancer is one of the most easily treated cancers if detected early. In that vein, I currently have one colonoscopy per year, to be more frequently performed the older I become. I also have a yearly upper endoscopy, CA-125 blood test, endometrial biopsy, pelvic ultrasound, full dermatology body-scan, CAT scan or MRI (every two or three years), and whatever else my doctor determines would be useful. I feel lucky that I am able to have these tests -- and I wish insurance companies would enable more people to have them. I truly believe that by following the protocol established for me by my doctors, any tumors that do form will be discovered and treated before a discussion of fatality is even mentioned.
Learning I had a mutation changed my life. As Sir Francis Bacon said, "knowledge is power." Cognizant that there is a 75 percent chance I will develop colon cancer by the age of 65, I do everything in my power to make sure it is nothing more than a polyp that can be removed. Knowledge has given me back a sense of CONTROL, something as I child I never imagined I would have.
Step 4: Therapy
Despite being grateful for having the information about my DNA that I now have, I must note that I did not immediately have the positive outlook that I currently do. It has taken a lot of trial and error to know what is the best approach for my emotional wellbeing in addition to my physical health. Knowing such serious information about one's own DNA is intense. It took me about six years to find a scenario that worked for me, and a lot of self-discovery to get my life together and truly deal with issues of loss that I had shied away from. Therapy has been an immensely helpful tool for me in coping with my situation. I find the emotional experience of screening the greatest challenge, as I relive the feelings of sadness and loss for the family members I have lost, specifically and most intensely for my mommy. While my family is nothing but loving and supportive, it has been useful to have someone to validate those feelings on a more consistent basis, explaining the ways in which it is normal to feel loss throughout one's life, and not just within the immediate aftermath of a death. Therapy has helped me manage the experience of losing loved ones, and of learning and having a genetic mutation.
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