(you can also view Jill’s video HERE)
My name is Jill and I am a two-time cancer survivor—I was diagnosed with colon cancer at age 30 and endometrial cancer at age 40.
My family has dealt with cancer for five generations, including three deaths from cancer. It was a mystery in my family as to why we had so much cancer, until recently when I received genetic testing. I now know that I have Lynch Syndrome: a hereditary, genetic condition that predisposes me to multiple cancers.
When I was thirty years old, I was working part time as a RN and raising my 1½ year old son. One day I had a bout of rectal bleeding, my second, but this time it was clots. I knew that I had better call my doctor and have it checked out, though, in the back of my mind, I was thinking that it must be hemorrhoids. My family doctor reviewed my family health history very carefully. She took it seriously that I had lots of cancer in my family, with the connecting link being colon cancer. While I was still in her office, my doctor called my mother’s gastroenterologist and made an appointment for me, insisting that I get a colonoscopy. She was concerned. She saved my life…
A few months later I had my colonoscopy and woke up from being sedated with the doctor’s face in mine, saying “you’ve got a tumor, you need surgery, it’s cancer.” It was shocking, to say the least. Within a few weeks, I had surgery to remove the tumor and 3 feet of my colon. Thankfully, the cancer was caught in time; it had grown through my colon, but had not gotten to my lymph nodes. It was classified as a Stage 2A. Chemotherapy was needed to help ensure that any undetected cancer cells would be terminated.
Meanwhile, as I was recuperating from my surgery, my brother experienced some rectal bleeding. He immediately got an appointment for a colonoscopy. He was 35 years old at the time and had just seen what happened to me at age 30, so he wanted to be careful, but didn’t expect anything to come of it. Five weeks after my cancer diagnosis, he had his colonoscopy and found out that he had colon cancer too! An unreal discovery! But it was VERY REAL! Our family had two young siblings with colon cancer, and at the same time.
We ended up having the same surgeon. After my brother’s surgery, the surgeon said that it was like a “ditto” surgery—the tumors were in the same exact area of the colon, but his was smaller. The blessing was that because of my cancer, my brother’s cancer was caught earlier than mine and he didn’t need chemotherapy.
With all this cancer in my family, we figured that we must have some type of hereditary condition but had no idea what gene contributed to all this cancer. Our gastroenterologist encouraged my mother to get genetic counseling and testing at the local community hospital, since she had already had three cancers herself. She went. The results showed a deleterious mutation in the MLH1 gene. The form with the results did not give a term or name for the mutation, but stated that she had an 82% risk of colorectal cancer and a 60% risk of developing endometrial cancer by the age of 70, and that first degree relatives of this individual each had a one-in-two chance of having this mutation.
My mother does not remember them using the term Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome during the pre or post testing counseling, nor was it written on her results form. My brother and I assumed that we must have gotten this “deleterious mutated” gene. Whatever that exactly meant, we weren’t sure. So, we sort of endearingly called it the “colon cancer gene”, for lack of a better term. Colon cancer was certainly the cancer that seemed to link our family’s history of cancer, although we had a lot of other cancers too, and we weren’t sure exactly why. I didn’t know how to completely interpret my mom’s results, so I made copies and gave them to every specialist physician I had. I assumed that they knew what it meant. Plus I figured that it was important to have it in my chart, because I thought that I must have that same mutation.
My family has experienced a lot of cancer. My mother has fought four primary cancers, starting at age 48, including colon, endometrial, breast, and lung cancers. Praise God that she is still living at age 68. My mother’s twin brother died of melanoma at age 40. My maternal aunt has had melanoma. My maternal grandmother suffered with colon cancer three times, as well as breast and melanoma. My maternal grandfather died of colon and stomach cancer. My maternal great-grandfather died of liver cancer. Over five generations known to struggle with cancer.
Then in March 2011, I went to my primary care physician’s office for a visit unrelated to cancer. As I sat in the office waiting to see my nurse practitioner, I looked up and saw a large poster on the wall. It had a silhouette of a person’s body, with colored dots highlighting certain organs. At the top of the poster it read, “Does cancer run in your family?” I thought to myself, “YES!” I continued to read: “LYNCH SYNDROME significantly increases the risk for colon, uterine, and other cancers.” As I scanned the poster, I saw high risk stats for developing other cancers. For example, people with Lynch Syndrome have up to an 82% risk of developing colon cancer, which could happen multiple times in a lifetime, an up to 71% risk of uterine cancer by age 70, and an up to 13% risk of stomach cancer. The list went on: 12% risk of ovarian cancer, 7.2% risk of small intestine cancer, and a group of others under 5%: urinary tract, brain, biliary tract, and skin.
As soon as my nurse practitioner entered the room, I told her, “That poster is speaking to me.” We spoke about my family health history and genetic testing. She admitted that she didn’t know a lot about Lynch Syndrome but would get me more information about it. She printed out some information before I left and promised to send me more in the mail. She offered genetic testing there at the office or the option to visit a genetic counselor and get testing through them. I was thankful for all the information that she took the time to gather for me.
During that same visit, I expressed to her that I had been having increased irregular menstrual bleeding. Last August, I had gone to my gynecologist with complaints of lower abdominal pain radiating to my back, fluid retention in my abdomen and legs, and irregular menstrual bleeding. At that time a transvaginal ultrasound was completed with everything looking normal. But I still felt that something seemed wrong in my body. My nurse practitioner strongly encouraged me to go back to my gynecologist and get more tests done, such as a biopsy. I listened. I got an appointment with my gynecologist. She had another ultrasound done and it was normal. She performed a biopsy because she felt, with my family history, it would be safest to make sure. I strongly agreed.
A week later, the results were in and I was diagnosed with endometrial cancer. The cancer had grown into the wall of the uterus and was therefore not seen on the ultrasound. Thankfully the biopsy had detected it. That poster, with the following up of my doctors and God’s provisions, helped to save my life. But how disappointed I was that I had cancer again. I was just shy of celebrating 10 years cancer free.
I was also disappointed because about 5 years before, I had asked my gynecologist for a total hysterectomy because my mother had endometrial cancer and I figured that I had a high risk of getting it, as her genetic test results indicated. I was done having children and thought I might as well get a prophylactic total hysterectomy and be done with the concern. My gynecologist referred me to my oncologist to discuss this and consider some type of genetic testing to see what my risks were before making that decision to have major surgery done. I did exactly as she asked. I saw my oncologist and asked him about genetic testing. He asked, “How’s that going to help you?” I was taken back. I didn’t expect that answer. And I dropped the subject.
In my mind, I thought “well, I will pursue genetic testing for my sons when they are older, I will make sure that they are protected.” But what I didn’t know was that genetic testing could help protect ME from other cancers, by knowing which other organs would be at risk for developing cancer when a person has Lynch Syndrome. I wish my oncologist had referred me to a genetic counselor to at least review my mom’s genetic test results, especially since I have come to find out that he didn’t know how to interpret those results. I would have had the opportunity to find out MY risks with this mutation. I am embarrassed that I listened to him. I didn’t follow my gut. Now, I don’t “just listen” anymore. Now, I am proactive in my health care! I ask questions, look information up, get second opinions, network with others who have Lynch, and consider all my options.
Genetic testing has helped my family to decode the mystery as to why we have had so much cancer. Those of us who have received genetic testing and are positive for the mutated gene follow a rigorous schedule of procedures, tests, and screens to watch at-risk organs and try to catch anything suspicious early. This helps protect our lives. We know what we need to do to catch cancer early, and we do it! It’s not an easy life, dealing with this life threatening syndrome and the concern that I may have passed it down to my children. I try to hold on to the positives in my life! I try not to take anything for granted. I have been given a gift that my ancestors did not have the opportunity to have. I won’t waste that! I want to honor them, and I thank God by trying my best to help others.
If I had known earlier about Lynch Syndrome, I would have done things differently. I would have had that prophylactic total hysterectomy and probably not had endometrial cancer, chemotherapy, radiation and the concern that it might come back or metastasize to my lungs.
I want that opportunity for others. That’s what pushes me to advocate for Lynch Syndrome Awareness. Knowledge is power.
I am blessed to have the opportunity to embrace my life and live it as well as I can. I want to be here to raise my boys, grow old with my husband and hopefully hold my grandchildren one day. This is my HOPE. This is my PRAYER. But no matter what, I’m living NOW.
Want to learn more about Jill and her story? View her video HERE