Raising awareness of Lynch Syndrome: Emma’s story

22 March 2024

Up to 300,000 people are thought to have Lynch Syndrome in the UK, but only five per cent of them know they have it.

Emma, from Canterbury, was diagnosed just before her 30th birthday.

Her diagnosis followed the discovery that her dad, who was receiving treatment for bowel cancer, had a fault in his PMS2 gene, which is one of the genetic changes that causes Lynch Syndrome.

As a hereditary condition, he was advised his children should also get tested.

Emma said: “Dad didn’t want to be that pushy patient, but he knew something wasn’t right.

“He’d had a cough that wouldn’t go away, so he visited his GP who arranged for a blood test. After that everything changed.

“He was diagnosed with bowel cancer and started treatment at Maidstone Hospital straight away.

“They referred him to the Guy’s Genetics Clinic to be screened for Lynch Syndrome. This was a difficult time.

“I was concerned for my dad, his diagnosis, treatment plan and the future, but he was concerned that I might have inherited Lynch Syndrome.”

After discussion with her parents, Emma decided she would like to know if she had the condition went to Guys Hospital in London.

Genetic counsellor

She spent time with a genetic counsellor talking about Lynch Syndrome and what it could mean for her, before deciding that she wanted go-ahead with the test.

Emma said: “Dad had handled his own diagnosis very practically but when I found out I had Lynch Syndrome it really rocked him. It was the first time I saw him cry.”

Regular colonoscopies

Since finding out that she has Lynch Syndrome, Emma has had regular colonoscopies to check for early signs of bowel cancer.

She’s also become more aware of her lifestyle and how to look after herself.

Her father has finished his treatment, and he too is regularly monitored for further bowel cancers.

Emma said: “I feel very grateful that I know I am being regularly monitored. If I didn’t know I had Lynch Syndrome, no-one would be keeping an eye on me.”

Emma has used her experience to help other people. She’s actively involved with the Kent and Medway Cancer Alliance and is helping to ensure everyone in Kent who has either bowel or endometrial cancer gets screened for Lynch Syndrome.

Emma said: “I’ve really enjoyed the last two years as a patient rep. I’ve shared my experience with so many people, as I want professionals to think about the patient in front of them as well as their families.

“It’s not just the person in front of them with the cancer diagnosis; by screening for Lynch Syndrome they could prevent future cancers in their patient and their families.” 

Find out more about becoming a patient rep with Kent and Medway Cancer Alliance by visiting Working Together Group | Have Your Say In Kent and Medway

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