Genetic mutations have been identified as the cause of inherited cancer risk in some bowel cancer–prone families and these mutations are estimated to account for 5% to 10% of bowel cancer cases overall.
The three most common inherited syndromes linked with bowel cancers are:
- Hereditary Non-Polyposis Colorectal Cancer (HNPCC) (also known as Lynch Syndrome)
- Familial adenomatous polyposis (FAP)
- MYH-Associated Polyposis (MAP)
In the case of FAP, if left untreated, mutation carriers have a lifetime risk for bowel cancer close to 100%.
FAP is characterised by the presence of hundreds to thousands of adenomatous polyps in the large bowel of affected individuals, which often start in adolescence.
An affected person has a 50% chance of passing the condition on to each of their children.
Cancerous polyps are very common in this condition, usually by age 40, without active management of the polyps and screening on a regular basis.
In families where there is a clear history of FAP, screening usually commences from the age of 12-15 or from diagnosis with annual flexible sigmoidoscopy or colonoscopy.
Where FAP is suspected, your GP will refer you to a Family Cancer Clinic for support and on-going management of the condition, because it has been known to affect adolescents and teenagers.
“My name is Benita and it is a year since I received my stage 4 bowel cancer diagnosis.
I suppose I had been showing symptoms that something wasn’t quite right for some time, but I’d always had issues with irregular bowel movements since I was a child.
I definitely noticed I was lethargic, but I live in the Pilbara in WA and work in the heat. After a 12-hour shift at work, everyone feels tired.
It wasn’t until August 2017 when my optometrist completed a retinal scan and found an abnormality that I had my first inkling something was wrong. He told me he had detected several CHRPE’s behind both eyes and that they can be an indicator for cancer. He referred me to an eye specialist in Perth. I still wasn’t that concerned, I didn’t even think to ask what type of cancer.
Several months later I got a call to schedule my specialist appointment for November 2017. By this stage I’d had a couple of large bleeds when going to the toilet and that's when I started to worry.
During my appointment the eye specialist confirmed what the optometrist thought and that's when I first heard about FAP (familial adenomatous polyposis). The specialist recommended I get a referral for a colonoscopy as soon as possible. We were leaving the next day to travel home but he said if I could give him a couple of days he could get me a specialist appointment. I incorrectly assumed that if he saw the importance of being seen immediately, so would my doctor.
I had my doctor’s appointment the day we got back to town, but they had never heard of FAP, didn’t understand what CHRPE’s were and after a digital exam, said I had haemorrhoid’s and didn’t need a colonoscopy.
Luckily, I insisted on getting a referral but even looking privately I couldn’t get an appointment for eight weeks and even then, that didn’t get me a colonoscopy straight away. I was told depending on the surgeon’s schedule I could be waiting another 1 -2 months.
I decided to go on the public waiting list as well, which I’m glad I did as I was able have my colonoscopy and endoscopy 9 weeks later in February 2018. As soon as I woke up the surgeon came to tell me that he thought I had FAP and bowel cancer.
He had taken biopsies from three areas, but I would have to wait for the results. I wasn’t completely surprised by what he found, but that didn’t make it any easier to accept. We went back 9 days later to be given the news by the surgeon’s intern that I didn’t have cancer and was good to go. What the??
I questioned him further about my results and after he checked with the surgeon, I was told I did have bowel cancer. I had to be referred to Perth for treatment and was told this would take another two weeks.
10 days came and went and still no referral and I was getting anxious. After talking with a friend who had stage 4 bowel cancer, I called another surgeon in Perth who was able to see me two days later.
From there it was a barrage of tests. Unfortunately, these confirmed that not only did I have bowel cancer, but it was stage 4, metastatic to both lungs.
After consulting with other specialists, it was decided the best option for me was to have a right hemicolectomy.
Usually for people with FAP, the treatment is to remove the entire colon, as whatever is left behind will continue to develop polyps, but I didn’t have time on my side. I needed to start chemo as soon as possible. So I had my surgery at the start of March 2018 and chemo began three weeks later.
I have been having chemo for nearly 11 months now. My chemo drugs have changed, as my body couldn’t tolerate my initial treatment plan. I now receive palliative chemo as although I was able to have the cancer in my bowel removed it had already taken over both my lungs by the time it was detected and was inoperable.
I was initially given an end date of two years from diagnosis. Although some people have said doctors shouldn’t give time frames like that, I’m glad that my surgeon and oncologist did speak so honestly with me.
Don’t get me wrong, it was the hardest thing I’ve ever had to hear, and I had it delivered to me twice within a week. Even though I understand and accept my diagnosis, it doesn’t mean I accept their prognosis. Everyone is entitled to their own opinion, I just believe that I can live with this cancer longer than another 12 months.
Whilst I haven’t been gifted with amazing results over the last 11 months, there are still positives to be taken from the situation. My cancer hasn’t spread to any new locations, it hasn’t set up shop in what’s left of my colon and it hasn’t grown. In fact, it’s shrunk, only marginally, but still, it’s stable, and you have to happy with that.
Even with my treatment, I’m still enjoying life, I have so much to be grateful for. I travel to Perth every 3 weeks for chemo and while I’m there I’ve been able to try a range of complementary therapies that aren’t available where I live.
I had five months off work when I was first diagnosed. I have a wonderful employer that has allowed me to keep working part time, which has helped with my mental health immensely. I’m not sure how long I’ll be able to keep working, but I’m enjoying it while it lasts.
I’ve been able to keep active, with regular workouts at the gym, although my program has been modified. I also make sure I make time to enjoy the outdoors with my husband, whether its going for walks with our dog or travelling on our days off, enjoying everything nature has to offer. I definitely believe this time helps me clear my mind and focus on what’s important.
Probably one of the hardest things I’ve had to come to terms with is not only that I have cancer but also FAP. FAP is rare and hereditary, so after my surgery I was referred for genetic testing, as was my daughter, brother and my parents. Luckily my brother and parents were given the all clear, but I had a 50% chance of passing FAP on to my daughter and unfortunately, she drew the short straw.
It’s a terrible feeling knowing FAP is something I passed on to my daughter. After her colonoscopy the surgeon initially didn’t believe there to be any urgency to have her colon removed, but after her biopsy results came back, she got the call that her surgery would be bought forward to as soon as possible. It’s still hard to believe that if I didn’t get my diagnosis when I did my daughter more than likely would have bowel cancer now at the age of 22.
Although cancer is a terrible thing to bond over and I would give anything to be able to take that FAP diagnosis from her. I can honestly say that as awful as it sounds, sharing this experience has helped us both. We completely understand what the other is going through, even though our treatment has been different, we just get it. Her diagnosis has also given me someone else to focus on, which is a relief at times. I often look at my daughter and am blown away by her strength and the support she continues to give me whilst dealing with her own issues.
Nothing gives you clarity like a terminal diagnosis. I now appreciate everything about my life. I’m grateful everyday that I’m still here enjoying everything life has to offer.
So, my only advice to others would be this. Live your best life, everyday, as you never know what’s around the corner."
Share your Kick Ass Story
Are you a kick ass woman living with or beyond bowel cancer, or do you have a female family member or friend that is?
We’re seeking female volunteers of all ages to share their experiences to help raise awareness of bowel cancer in women as part of our second annual Kick Ass: Bowel Cancer In Women initiative this March.
Share your own story, get ready to join the campaign next week and help us kick bowel cancer’s ass.