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Connecting the dots around Lynch syndrome to help prevent cancer

Sally was only in her twenties when her mum was diagnosed with endometrial cancer, then shortly afterwards, bowel cancer, one of the most common cancers associated with Lynch syndrome. Sally’s grandmother had also had bowel and pancreatic cancer. Though it wasn't yet possible to test, Sally’s family history suggested she may be at high risk of having inherited Lynch syndrome.

These days getting a diagnosis for Lynch syndrome can be done through your general practitioner (GP), who can help you create a comprehensive picture of your family’s cancer history and discuss whether genetic counselling would be appropriate for you.

For Sally though it wasn’t until a couple of decades later, when she was 40 years old, that her GP gave her the chance to formally test for Lynch syndrome. Testing still wasn’t readily available in Australia, but she referred her to a lab in the United States who were able to run genetic testing on Sally and her family.

It wasn’t an easy decision to get tested but having had that question hanging over their heads for a long time, the family decided to finally get the answers they needed.

While the rest of the family was clear, Sally’s mum and Sally tested positive for Lynch syndrome.

‘It was very traumatic for mum, who I think felt responsibility for having passed on a faulty gene, which is ridiculous, but I think that was pretty devastating for her. For me, I was in shock. I won’t lie. But I just decided to take immediate action and deal with it.’

Having finished having children by that point, Sally is grateful that the decision to take certain preventative steps was slightly easier than it could have been. She’d seen what her mum went through with multiple cancer diagnoses and decided to immediately have a total hysterectomy and oophorectomy.

She considers herself lucky to have had a GP who was on top of the latest treatments and recommended hormone replacement therapy, which helped her bounce back after the surgery.

‘I immediately went on to hormone replacement therapy, and so I only experienced one hot flush, which was horrible. As soon as I got on to that therapy, my usual energy returned.’

Genetic testing can be confronting; however, Sally encourages people to see it as a way to gather information essential to your future healthcare. ‘It doesn’t mean that you will get cancer, it means that you have an increased risk for certain types of cancers. And if you have that information, then you can take positive steps to prevent and detect early.’

‘If you can do anything to find out early whether you might have cancer, to me that’s good information,’ she says. ‘I’m nearly 55 and I’ve been doing regular screening. I’ve never had cancer’. It’s now been 15 years since Sally’s diagnosis with Lynch syndrome. She still closely follows her surveillance plan, but otherwise focusses on living every day to the fullest.

‘I made a decision that I would do all of the steps, have all the annual testing, and then I would not think about it at all. And that’s been pretty successful. I don’t sit here and think ‘oh my god, I’m going to get cancer’. I just think anyone can get cancer. I know I’ve got a higher risk, so I take the steps that I need to take.’

Lynch syndrome

Lynch syndrome, previously known as Hereditary Non-polyposis Colorectal Cancer (HNPCC), is an inherited cancer predisposition syndrome which gives people an increased chance of developing certain cancers across their lifetime, often at a younger age than the general population.

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When thinking about seeking genetic counselling or a Lynch syndrome diagnosis, Sally stresses the importance of having a GP who is up to date and knows about Lynch syndrome and the importance of screening, as well as being up to date on hormone replacement therapy and other treatments.

It was the extensive knowledge of her GP that led to their Lynch syndrome diagnosis, so raising awareness for the syndrome in both the community and the health care sector is essential to helping other families connect the dots.

‘It’s really important that people tell their GP about it. If they think that they want to be tested for it, or if they have been tested, that they keep telling everybody that’s involved in their care,’ she says.

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