How a chance diagnosis led to life-saving surveillance

“I’ve had three fairly major operations for cancer and I’ve survived. A big part of the reason I’ve survived is because they were caught early.”

Dave was 40 when a medical emergency led doctors to diagnose him with Lynch syndrome. It was only later that he learned more specifically that he had Muir-Torre syndrome, a rare form of Lynch syndrome that can also affect the skin.

Muir-Torre syndrome is often described as rare, but the true number of people affected is not clear. One 2008 study found signs of Muir-Torre syndrome in 9.2% of people with Lynch syndrome in the group studied, suggesting it may be more common than many people realise. More research is needed so people can be diagnosed earlier and better understand what this condition can mean for them.

Adopted and with no knowledge of his biological family’s health history, Dave had no idea that he might have an inherited cancer risk. Since then, regular surveillance has become part of his life and given his family information he never had himself.

Finding out by chance

Twenty-five years ago, Dave choked on a piece of meat and ended up in the emergency department when he couldn’t dislodge it. After doctors removed it, they arranged further tests, including an endoscopy and blood tests.

Those tests started the process that led to Dave being diagnosed with Lynch syndrome. Over time, he learned that his diagnosis was more specifically Muir-Torre syndrome. Dave explains that Muir-Torre syndrome is an inherited condition that can increase the risk of some internal cancers, including bowel cancer and other Lynch syndrome-related cancers. It can also cause particular skin changes, including some skin cancers and growths in the oil glands of the skin, known as sebaceous lesions.

“It’s hereditary, but I’m adopted, so I don’t know where in my family it came from. I don’t know my biological parents.”

Learning what the diagnosis meant

Dave worked as a mental health nurse for many years. “With my background being in the medical profession, I wasn’t overly alarmed about it. I knew treatments were available and the medical people that were looking after me were very good as far as explaining the options available to me and what I’d need to do.”

He was pragmatic. “Being hereditary, I thought, well, there’s not much I can do about it. You know, I have to learn to live with it. And I’ve just got to take what comes.” He started regular surveillance, including MRIs, CT scans, endoscopies, colonoscopies, cystoscopies and skin checks.

What surveillance found

Dave regularly has skin lesions removed, and over the years his checks have found changes needing surgery or treatment, including cancer.

“Essentially, I’ve had three lots of major surgery for cancers. I’ve lost part of my small bowel, part of my large bowel and a kidney. But I’m still laughing and kicking at 65 years of age.”

Recovery from his kidney surgery around 5 years ago took longer than his earlier surgeries and meant retiring sooner than planned. “Retiring early and perhaps not setting yourself up financially as you'd like to, that leaves a bit of a bad taste in your mouth,” he says. “That’s the only annoyance I find in having Lynch, really. The rest I’ve been able to deal with.

Living with regular surveillance

Dave has found practical ways to make repeated checks easier to manage. He arranges his endoscopy and colonoscopy for the same day. “I guess it’s all just become a part of my life, but I haven’t found it overwhelming.”

Long-term relationships with his healthcare team help too. One specialist has cared for him for around 20 years.

“He doesn’t treat you just as a patient, but is interested in what you’re doing, how you’re progressing, and keeps you well informed and invites questions.”

Dave had no family medical history to draw on, but he has given his sons his genetic test results so they can choose whether to follow them up with their doctors.

Follow up and keep checking

Dave’s nursing background gives him confidence to ask direct questions, but he believes everyone should expect clear answers from their healthcare team.

Being adopted also influences how Dave thinks about unexplained symptoms. “If there’s something that you think is not normal and you don’t know the genetics, or your own genetics, then perhaps you should look into it. Go to your GP.”

“If your regular GP just dismisses it, don’t settle for that. Find somebody who will do a genuine follow-up, who will make the appropriate referrals to the appropriate specialist.”

After more than 25 years of regular checks, Dave’s advice is simple: if a doctor recommends regular surveillance or a test, do it. They’re nothing compared to having to face major surgery later.