Knowing I have Lynch syndrome has saved my life twice
Monday 13 January 2020
Sam Rose, 32 from Northampton, was 22 when she was diagnosed with bowel cancer. She then found out she has Lynch syndrome – a genetic condition that increases your risk of the disease by up to 80% as well as many other cancers. She shares with us her experience.
I was 22 years old when in 2010, I went to A&E with bleeding from my bowel. I wasn’t long out of university, still living at home and working my part-time job at a local supermarket, and I’d never been admitted to hospital for as much as a broken bone. But here I was, being passed from my GP to the hospital, being kept in overnight and having four pints of blood poured back into me. When the next morning my new consultant put his finger up my bottom in front of several medical professionals standing around my bed, I waved goodbye to my dignity for good, and was indoctrinated into a new world of surgery, screening and genetic testing.
The cause of my blood loss was a polyp – a growth in the bowel which was removed a few weeks later during surgery. But the polyp was under suspicion of not working alone, and a follow-up colonoscopy revealed seventeen comrades lurking in my large intestine. Among them were a few cancer cells. Six months after my first admission to hospital, I had my colon removed and a temporary colostomy created. Five months later, the colostomy was reversed and an internal pouch was created, which is a portion of the small intestine fashioned to function as a makeshift large intestine. And I must say, it’s been working remarkably well so far.
But even though I entered 2011 cancer-free, the ordeal was far from over. During one hospital stay, a doctor had looked at my chart and said “I see you have Lynch syndrome.” Sitting with my mother at my side, we both looked at each other, perplexed. I had never heard of this syndrome in my life, never mind been told I had it. The doctor had somehow jumped the gun. Unfortunately, when I was sent for genetic testing later in 2011 he was proven right.
Lynch syndrome is a genetic condition that makes people more predisposed to certain types of cancer (depending on which particular mutation you have). Lynch syndrome can increase the risk of bowel cancer by 80%, and can also increase the risk of ovarian, womb and other cancers. It’s thought that over 200,000 people in the UK have Lynch syndrome but 95% do not know they have it because of a lack of systematic testing. In my case, both of my parents have Lynch syndrome and it had been passed on to me – and likely my brother, who died of a brain tumour in 1989 when he was 16. Thankfully my sister does not have Lynch syndrome, and therefore hasn’t passed it onto her two children, either.
Dealing with a cancer diagnosis and subsequent fear of recurrence is bad enough, but to know you have something wrong with you that makes you more likely to get it adds on an entire new level of health anxiety. After my first diagnosis I was sent for annual tests including a CT scan, a gastroscopy and a flexible sigmoidoscopy (which is like a colonoscopy but for my internal pouch). Every time an appointment rolls around I worry about what they might find – and although I’m used to being poked and prodded, it’s always horrible to be pulled from my normal life and into a medical environment where my life could change dramatically again with just a few words from my consultant. Fast forward to 2018 and I received two new cancer diagnoses – both in the space of two days.
My duodenal cancer diagnosis came from a routine appointment – my annual gastroscopy revealed three polyps in my duodenum. Around the same time, I’d had an MRI because of a recurring abscess, and the MRI revealed abnormalities in the lining of my womb. The gynaecologist thought it was nothing to worry about and at first discharged me, but after researching Lynch syndrome decided I should have further tests to be safe. Sure enough, the day after I found out I had duodenal cancer, I was in another doctor’s consultation room being told my womb was pre-cancerous, with suspicion of cancer – which it did turn out to be.
The summer of 2018 turned into a lot of waiting around while consultants spoke to each other about what to do with me. Having two different cancers at the same time, I was a complicated case, and apparently became a little famous among the medical professionals involved. It was eventually decided that I would have a hysterectomy, with my ovaries removed too as I was high risk for ovarian cancer. Then two months later I would have Whipple surgery. Usually performed for pancreatic cancer, this operation took eight hours and required a ten day hospital stay, with the first three of those in the high dependency unit. It was rough, to say the least, but I am now one year with no evidence of disease.
It isn’t lost on me that if the gynaecologist I’d seen hadn’t sent me for further tests, my early stage uterine cancer could have not been early stage at all. And even though my partner and I have lost our chance of having biological children, recovery from both of my surgeries took around five months, and I know from experience that the mental, emotional and physical implications of these experiences will stay with me for years – I still have a lot to be grateful for. The fact that my medical team knows I have Lynch syndrome and am high risk for certain types of cancer means that it’s more likely to be caught early if it happens again. And after my first diagnosis, I always thought it would happen again. I don’t feel any differently about that today. Next year I have an appointment with my genetics team to talk about further screening for me, including an MRI to check for brain cancer. The thought of having the disease my brother died of terrifies me, and I can’t bear to put my parents through any more pain. But if the screening is being offered, I know I should take it so that the knowledge of my Lynch syndrome might save my life again. I’d urge anyone with worrying symptoms or a family history of bowel cancer to push for genetic testing, because the old adage “knowledge is power” is never as important as it is in the context of our health.