Twelve years ago today I had an excruciating colonoscopy which unearthed eighteen polyps in my bowel, which led to the diagnosis of bowel cancer, which led to the removal of my colon, and genetic testing which confirmed a diagnosis of CMMRD. Twelve years later, I’m still working on coming to terms with that.

I’ve spent the last ten years or so writing about cancer and most of those years also writing about Lynch syndrome. But I don’t have Lynch syndrome. Or at least, I don’t just have Lynch syndrome. I even wrote a book all about having Lynch syndrome, even when technically that’s not what my condition is. I’ve been holding back or I’ve been in denial or I’ve been wrong.

It’s just denial, really. I’ve always known, since the genetic testing, that I have CMMRD, or constitutional mismatch repair deficiency. It’s what happens when both your parents have Lynch syndrome and you’ve inherited both their “bad” genes. I’ve just never called it CMMRD because I didn’t want to think about how that comes with even more risk of cancer than Lynch syndrome does.

But something changed this year and I’ve been facing it a lot more. I’m ready to say “I have CMMRD” instead of “I have Lynch syndrome”. Of course, when I do say I have Lynch, more people know what I’m actually talking about than people who have heard of CMMRD. But I feel like I’ve not been telling the whole story, because maybe I really have been in a bit of denial, and now I feel like I need to “come out” or something.

So here goes:

I have CMMRD. While Lynch syndrome is a common thing that lots of people have but don’t realise they do, CMMRD is actually really rare. One in a million people have it, which is about 8,000 in the world. To put it another way, there’s a 0.0001% chance of anyone having it. Nearly all people with CMMRD get cancer before the age of 18 and the average age for getting it is 7.5 years old. So it’s kind of seen as a “children’s disease”.  The fact that I didn’t get it the first time until I was 22 is kind of amazing. It also makes it difficult to feel like I fit in with other patient groups. But here I am, 34 years old and still here. Like a walking miracle. Three cancers down, with fear of recurrence and surveillance a constant background noise, but still here. I am rare, I am literally one in a million, I have CMMRD and that affects my life in many ways. I might have a different perspective on things compared to other people. It’s hard for me to think too far ahead. I want everything to happen now while it still can. I’m fairly sure I can blame this condition for my confidence slipping over the years – whether that’s due to surgeries, early menopause, or general life experience and anxieties. I worry a lot. I’m normal but I’m not. It’s weird being me. I’m constantly trying to balance normal life with the medical world, always worried about the latter raising its head while I’m trying to enjoy the former. I wonder if I’m living the best life of a person with a rare, potentially life-limiting condition. I hate hospitals but I need them. I’m scared of all the scans and tests but my life could end up being much shorter without them. Sometimes I feel like I don’t know who I am anymore. It’s weird being me. Maybe it’s weird being you, too. I just wanted to give a bit of insight into my particular weirdness.