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.
Diagnosed with stage 4 bowel cancer at the age of 39 and sadly passing away at 41, Talya’s dad was identified as having “a rare genetic predisposition called Familial adenomatous polyposis”. Following genetic testing, Talya and two of her sisters all tested positive for FAP, and Talya was diagnosed with early stage bowel cancer at the age of 21.
With a passion for raising awareness that you’re never too young to have bowel cancer, and of this rare genetic predisposition that dramatically increases a person’s risk of developing bowel cancer, Talya and her husband Russell share why they’re helping us beat bowel cancer this Decembeard®.
Me, My Beard and Why – Russell
Bowel cancer is something very close to home. My father-in-law was diagnosed at 39, my wife at 21 and she has two sisters who at 11 and 12 were tested and found positive for a genetic trait that puts them at high risk of developing bowel cancer at some point in their life. It was a rude awakening to the realities of this disease and I’d like to share my newfound knowledge from my second-hand experience with bowel cancer; although more prevalent in older people, you can never be too young for bowel cancer.
So why the beard?
The simple answer is I wanted to grow a beard. Quite honestly, I didn’t even realise there were platforms like this to help raise awareness for bowel cancer. So, when my wife suggested I attach myself to the campaign I thought what a great way to kill two birds with one stone - raise awareness for bowel cancer and raise awareness for a platform that raises awareness that I was, until then, unaware of.
My wife also said I could grow a beard if it was for a good cause and I think that Bowel Cancer Australia’s Decembeard® campaign is a great awareness initiative and conversation starter!
Support Russell’s Decembeard® fundraising efforts.
Me, My Decembeard and Why - Talya
Bowel cancer is something that has completely turned my life and that of my family’s, upside down. When I was 19, my dad was 39 and diagnosed with stage 4 bowel cancer and was told that it was caused by a rare genetic predisposition called FAP. After undergoing my own testing, it was positive I too had the gene.
In March 2012, my dad died at 41, later that year I was diagnosed with early stage bowel cancer. At the age of 21 I underwent surgery to remove my large bowel and now live with a permanent ileostomy. The week I was in hospital recovering from surgery I learned my youngest two sisters, who were 12 and 11 at the time, tested positive for FAP too.
I started a blog to share my bowel cancer story and raise awareness of my dad’s story, but also to raise awareness of the rare FAP disease that has caused havoc on our lives. Another major reason for starting my blog was to also help inspire and empower other young women facing life with an ostomy. To show them that life can still be great. I have had a lot of positive feedback from readers and those my blog has helped (including nurses), that it has enabled them to better understand ostomy life in a then early 20’s female.
Raising awareness of bowel cancer for me is something that’s very close to home and something I wish everyone knew about, as there’s a large percentage of the population under 50 with bowel cancer and early detection is key.
If I can help save another family from the heartache, we felt in losing my dad or in another young person facing their mortality in their 20’s, then I want to do my bit to help get the message out there loud and clear. And Decembeard® is a great awareness campaign to do so!
I only hope for a future where a bowel cancer cure can be found, for my sisters and the next generations to come.
Join Russell and Talya in raising much needed funds and awareness for Decembeard® Australia.
Sign up to raise funds and help us beat bowel cancer this December.