An early morning, just a year ago, I was standing in my kitchen making my morning coffee and getting ready for work when I got a text from my mom: “Have you heard from your dad?” Since I hadn’t been in contact with my dad for years, I found her question very odd.
Now my mom knows me very well, and she knew that I wouldn’t answer my phone if my dad called but she knew he wanted to tell me about something important regardless of our complicated family situation.
My dad was in the hospital and had been diagnosed with colon cancer. My dad had surgery and the doctors were concerned about his strong family history of colon cancer; that is when the doctors started talking about cancer genetics. I never heard about this before. I knew that cancer could come from many things — but being born with cancer genes? No way …
The doctors told me and my sister to go see our own doctor, to tell her about our family medical history, and to ask to be referred to genetic counseling.
We went to see our doctor as we were told to. We live in different parts of Denmark, and don’t have the same doctor, and that turned out to be the first challenge. A couple of weeks after seeing my doctor, I received a letter from the hospital. I had an appointment for a colonoscopy. I immediately called my sister. “Have you gotten your letter from the hospital yet? Did you know what is going to happen to us?” I must admit that I was a bit shocked. They sent me laxative in an envelope.
My sister hadn’t gotten her letter yet, but panicked a little with me on the phone, as I read mine to her. A couple of days later, she got her letter — no colonoscopy and no laxative but she did have an appointment with a genetic counselor.
We were very confused by that and a little frustrated. Why were we not getting the same procedure? The doctors that treated our father had talked about family history and genetically inherited cancer, so an appointment with a genetic counselor made sense to us. I called my doctor, and told her that I thought she had given me the wrong reference. She didn’t agree with me, and I had to insist on getting a reference to a genetic counselor.
I went to see the genetic counselor, and the first step was to make a family medical history tree. We have a very big family, with very little contact, so that was a puzzling task. My sister and I were referred to two different counselors, at two different hospitals.
My appointment was first and my genetic counselor was very nice and professional. She told me to make my sister cancel her appointment, and get transferred to her, so we would be treated together. That made so much more sense, and I felt that this was someone who knew what she was dealing with — finally.
After putting together the family tree, our counselor told me, that she would get back to me. While I waited for my genetic test results I had a colonoscopy, which came back clear. “Of course,” I thought, “Why wouldn’t it be? Nothing is going on in my colon!”
Our counselor got back to me with the message that they found reason to suspect genetically inherited cancer. Now they wanted a blood sample from my dad in order to look for genetic mutations. We waited 3 long months for the blood sample results.
I was at work, when I got an email from my genetic counselor. It said that she had gotten my dad’s test results, and would like to see all of us for a meeting. Soon after, we went to see our genetic counselor, my dad, my sister and I. This was the first time in years that saw my father. There is nothing like getting reunited with estranged family members over a genetic cancer counseling session.
My father was diagnosed with Lynch syndrome. In my dad’s blood sample, they had found the gene mutation MSH6, which increases the risk of colon cancer in both genders and endometrial cancer in women. We sat there and were told about the 50% risk of inheriting the mutation and that is when my sister started crying. She had thyroid cancer when she was 18, and the thought of having a mutation, which predisposed her to cancer, terrified her.
We were offered a blood sample and we both agreed to have it. I told my sister not to worry. “Oh, I worry” she said. “I don’t worry at all” I said, “I’m just so sure that I don’t have that mutation. Why on earth would I?” That was honestly how I felt but my sister was no so confident. “I’m absolutely certain that I have it. It’s like I can feel it sitting in there,” she said. The weeks of waiting for the genetic test results felt so long and as time passed I became more impatient and insecure. I wanted an answer.
My sister and I received our letters the same day. I opened mine. Then I started laughing. “I have the mutation,” I said to my fiancé. “I have the mutation.” He looked at me so seriously, and told me how sad he was for me. “Oh stop,” I begged him, “this doesn’t change anything.”
I called my sister. She was on her way home to open hers. She was sad to hear about my result, and scared of her own. Half an hour later, she called me back. “I don’t have it. I went free,” she cheered. She was happy of course, but sad and confused for me. We both were. I had been so sure that I would not have Lynch syndrome. She had been so certain, that she would. She questioned the results: “Do you think they made a mistake, and swapped our tests? Should we ask for a new one?” I laughed, and told her not to worry. It was okay. I was okay. Nothing was changed. It had always been there, I just didn’t know about it before. Nothing changed.
The next morning I woke up thinking “What the f*** just happened here?” Feeling scared, and different, like everything had changed.
I found the folder that my counselor gave me about Lynch syndrome! I started reading everything but read it in a whole new way now — this is about me. I have this. I have Lynch syndrome.
It was like a whole new identity for me. I had to get to know myself as a person with Lynch. And it was so weird, because what did that mean? I still don’t know. Some days I don’t think about it at all. Some days I am scared. Some days I feel that everything is changed. Some days I feel like nothing is changed. And that is exactly what it is to me. Every thing and nothing has changed.
Last month I went to my first endometrial check. The doctor I met there was very inhumane. “You know why you are here, and it is just a matter of time, then you won’t be getting these checks anymore — eventually they would be abolished. They are not really necessary, and you will just have to be observant of the signs you get from your body, like everyone else.” That was what he said to me — I was speechless and angry with that doctor. Unfortunately I was too shocked to tell him at the time. The doctors in Denmark do not understand the screening protocol for Lynch syndrome. This is a BIG problem.
It has just been a year since my dad got cancer and in that year I have been diagnosed with Lynch syndrome, had a colonoscopy and endometrial check, met doctors who don’t know anything about this, and doctors who know a lot.
What I know two things for sure:
First and foremost, I have to be my own advocate and listen to my body. And what my body tells me is that I need these routine checks every two years, just as I have been promised.
Two — you may be able to run away from your family but your genetics will always follow you.
Stine Glasdam Larsen, age 33.