My name is Jacqueline and at 32 years old I was diagnosed with stage 4 colon cancer & Lynch Syndrome
I was born on July 3, the oldest of three kids. I grew up with two younger brothers, and since 1996, at least one golden retriever. I was also lucky enough to be born into The Church of Jesus Christ of Latter-Day Saints. My dad is a nonmember and my mom converted well before I was born. My early years were spent moving around until the summer I turned 9. My family moved around a lot, as my dad worked for a company that built mass transit systems. During that time, we lived on the East Coast, along with the countries of Singapore and Taiwan. Once we moved back to the States in 1994, we settled in the Midwest.
Nearly 2 years ago, I was diagnosed with stage IV colon cancer. In April 2018, I ended up in the ER with severe abdominal pain and a fever. A CT scan showed inflammation in my colon and the diagnosis was colitis, or an infection in the colon. Thankfully, I felt well enough to travel to Denver for a friend’s wedding just 10 days later. However, while I felt better, I was still feeling “off.” A pelvic ultrasound was ordered and in mid-June it was finally done. The morning after the ultrasound, I ended up back in the ER with blood in my stool. The ultrasound report from the day before recommended a repeat CT scan, as they had spotted more inflammation in my colon. The ER performed that CT scan and found a spot on my liver the size of a walnut that had not been visible on the April CT scan. I was then admitted to the hospital for a colonoscopy and other tests.
The prep for the colonoscopy was miserable, mostly because there was a large tumor in my colon. Of course, we didn’t know that when I was trying to drink the prep. The colonoscopy couldn’t get very far because of a tumor. It didn’t look like the typical presentation of anything, so multiple biopsies were taken and results would be back 48 hours later. Despite the strange presentation, the most probably answer was colon cancer. However, the biopsies came back suspicious but inconclusive, so a biopsy was taken of the liver spot. 48 hours later, we had a concrete answer. Colon cancer that had spread to my liver.
Thankfully I was a surgical candidate from the beginning. I had only one metastasis and it was located in a place the surgeon could access. Surgery was scheduled for three weeks later. In the intervening three weeks, my oncologist decided to start chemo. I had round one of a chemo regimen called FOLFOX. Round one happened on my birthday, and the remaining 11 rounds would happen after surgery. Surgery was successful and removed both the primary colon tumor and the liver metastasis. By surgery, my liver metastasis was the size of a golf ball and my colon tumor was the size of a softball. I ended up with a variety of complications through surgery and chemo, but I finished chemo at the end of February, 2019. I’ve been cancer free since surgery in July 2018.
Between my diagnosis and surgery, I had genetic testing done. I learned that when a young person is diagnosed with cancer, or someone is diagnosed with a cancer usually left to older people, genetic testing is typically done. My doctors wanted to know why an otherwise healthy 32 year old developed colon cancer. Genetic testing showed I had a mutation in the MLH1 gene. That mutation meant I had Lynch Syndrome. Lynch Syndrome is an inherited condition that leads to a high risk of colon cancer in particular, and a higher than normal risk of certain other cancers. Lynch Syndrome encompasses several different gene mutations, each of which carries slightly different cancer risks. The particular mutation I have leads to a high risk of both colon and endometrial cancer. Lynch Syndrome is not a genetic mutation that skips generations, or which you can be a carrier without being affected. Therefore, my parents were tested. Much to everyone’s surprise, neither of my parents have Lynch Syndrome. About 1 in 280 people have Lynch Syndrome, and most don’t even know it. Of that population, .5% of people do not get it from a parent; in other words, it is a spontaneous genetic mutation at conception. I was part of that one half of one percent. Neither of my parents tested positive for Lynch Syndrome. It’s important to know if you have Lynch Syndrome because if you do, you will need additional cancer screenings for the rest of your life.
In August 2019, I had surgery to remove the remainder of my colon, my gallbladder, my uterus, fallopian tubes, and ovaries. I did this to remove my highest cancer risks going forward. Lynch Syndrome left me at high risk of developing a second, unrelated colon cancer in the next ten years. I was also at high risk of developing uterine and ovarian cancer. My gallbladder was removed at the same time because scans had showed several large gallstones and it was likely to cause my problems down the road. I had that surgery because I didn’t want to deal with more cancer down the road if I could do something about it. Surgery mostly went well, though it had its own set of complications, including developing ovarian remnant syndrome.
My medical journey has left me with a permanent ileostomy and a faith stronger than I knew possible. Facing the prospect of death forced me to look at what I really believe. I know that whatever happens next, my Heavenly Father will see me through it.