‘Hereditary cancer syndromes are by no means a death sentence’

‘I now see my diagnosis as a great opportunity to reduce my cancer risks’

We all inherit traits from our parents and grandparents, whether it is our eye colour, height, aspects of our personalities or even mannerisms. But health conditions can also be passed down through our genes and this is why it is of utmost importance to know our family history.

In 2017 Roberta Horgan began experiencing lower abdominal pain, frequent and loose bowel movements, and the feeling that she couldn't fully empty her bowel. Her doctor suspected Crohn's disease and referred her for a colonoscopy which was carried out in January 2018.

I wanted to better understand my cancer risks and more importantly to know if my family members were at increased risk also

“When I awoke from the colonoscopy, the consultant was sitting at the end of my bed and told me that I didn’t have Crohn’s,” says Roberta, who has two daughters, Kayla (13) and Lily (9). “Instead, he said that he was surprised to find multiple precancerous lesions in my colon which were a cause for concern, especially in someone my age, so we discussed my family history.

“I come from a family which has been tremendously affected by cancers down through the generations, particularly bowel cancer, which my mother, grandmother and uncle also had.

"My consultant suspected a genetic cancer syndrome, possibly Lynch syndrome, and I was referred to the cancer genetics team in Crumlin for genetic counselling and offered genetic testing. I agreed as I wanted to better understand my cancer risks and more importantly to know if my family members were at increased risk also, so they too could benefit from screenings and interventions to help reduce their risk."

The testing process took well over a year, during which Roberta, who lives in Longford, had further scopes, each revealing new lesions – one so big, it had to be removed in sections.

“It shocked me how quickly they grew and I was now also having regular screenings with a gynaecological oncologist,” says the 37 year old. “I eventually got the diagnosis of serrated polyposis syndrome and I was honestly so grateful for an explanation as to why cancer was so prevalent in our family. I was also grateful to have skilled, caring medical professionals helping me manage this syndrome and I was being given an opportunity many in my family never got.

“But it was also overwhelming at times as there was no way to stop the lesions growing. I would need regular colonoscopies to find and remove them for the rest of my life and, even now, I feel a bit unsettled when my scopes are due as I am never sure if I will wake up to hear that despite their best efforts, cancer has developed.

“I was provided with letters to give to my family members notifying them of the diagnosis and what it might mean for them, with instructions for their GPs on setting up relevant cancer screenings. It was hard being the bearer of such news as I was worried for their future health and I also felt a sense of guilt along with sadness about any distress this would cause them. And I continue to worry that my children could be diagnosed with this syndrome in the future – that is definitely the hardest part.”

Roberta is an administrator with Lynch Syndrome Ireland – a support group for people with the condition, which leaves them more susceptible to developing colorectal cancer and other cancers, often under the age of 50.

She also agreed to take part in a long-term research study being carried out by the University of Melbourne in Australia to understand the genetics involved. Although it won’t affect her diagnosis or benefit her directly, it may help other families, including her own, in the future.

“From the very start of this I threw myself into learning as much as I could and it opened my eyes to the importance of research,” she says. “Without it I wouldn’t have a diagnosis or the tools to manage it and there would be no advancements in diagnostics, treatments or prevention of cancer. We have amazing cancer scientists and researchers in this country, and I wish they were better funded and that we had properly funded and resourced cancer genetics services. It is shocking that we don’t.

“The impact of Covid-19 on cancer services and research has been devastating and will be the cause of many delayed diagnoses and more advanced staging, which can mean less treatment options, so research has never been more important. I have also learned the value of awareness and how important it is to raise it.”

I have had cancer five times and have never had any symptoms, so if it weren't for early detection, I would be dead by now

Brendan Muldoon from Kildare agrees. The father of one – Alex (11) – has endured several different cancers, has had various surgeries, which included having 95 per cent of his bowel removed, and is living with tumours on his liver that are inoperable.

He was diagnosed with Lynch syndrome in November 2011, following a diagnosis of bowel cancer and eight months after his mother passed away. “Having Lynch syndrome is strange as it doesn’t affect the way you live but knowing that I have it has saved my life many times because I am screened regularly,” says the 45 year old. “This means my cancers have been detected early, so I have a higher chance of survival.

“I have had cancer five times and have never had any symptoms, so if it weren’t for early detection, I would be dead by now.

“This shows that it is so important to know your family history, and those who have Lynch syndrome should not be afraid of it, because although it increases your risk of getting cancer, it doesn’t mean you will get it. We are only here once, so we need to make sure to get the most out of life and count ourselves lucky that we have the opportunity to be screened as thousands of people with cancer are missing out every year, and this can lead to their death.”

Horgan agrees and says although bowel cancer is a highly preventable and treatable disease if diagnosed early, many people do not survive as their cancer is not detected in time.

“Maybe it’s because it has such a poor profile and we are not comfortable talking about that part of our bodies,” she says. “This must change as fear and embarrassment can prevent people getting possible symptoms checked or from having a colonoscopy if needed. It is a very safe procedure which could save your life.”

I would tell anybody with the same or similar diagnosis they are by no means being handed a death sentence, they're being given an opportunity to manage their health

She says it is so important to learn about your family’s health history and the symptoms of bowel cancer, be aware of any changes, especially any visible bleeding when using the toilet, and speak to your general practitioner if you have any concerns.

“Bowel cancer doesn’t discriminate on gender or age, and early onset bowel cancer is globally on the rise,” she says. “We need to be having a more open public conversation about it and need to highlight hereditary cancer syndromes so we can get better at identifying the families affected and give them the opportunity to reduce their cancer burden. It would save so many lives.

"All in all, I'm at peace with my diagnosis. I now see it for the great opportunity it is to reduce my cancer risks. I have also found a love for research and patient advocacy and try to get involved with it as much as I can. I have found amazing encouragement and support from the medical community, patient charities, organisations and many individual people. It has helped me immensely and I am especially grateful to the Lynch Syndrome Ireland group for supporting me throughout.

“They have shown me that knowledge really is power, and I would tell anybody that finds themselves with the same or similar diagnosis that they are by no means being handed a death sentence, quite the opposite in fact, they’re being given a great opportunity to manage their future health.”

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