I inherited two things from my grandmother: a delicate Royal Albert tea service, and a genetic condition called HNPCC. I would have preferred to have just the fine china, really. My grandmother’s gene gives me an 80% chance of getting colorectal cancer, 40% chance of getting womb cancer, and slightly lower odds on a veritable smorgasbord of other cancers.
Of course, my grandmother first passed this gene to my mum, who didn’t know about it. She had colorectal cancer at the age of 37, her womb removed at 39, and cancer in what little remained of her colon at 49. Pretty grim. I am at a huge advantage compared to my mum: I know I have the gene, and I’m in a pretty intense screening programme.
Now let’s just be clear about one thing: I don’t actually have cancer. Not yet. At the age of 26 a gastroenterologist removed a polyp from my colon, all of 2mm big, that exhibited ‘mild dysplasia’. That means the little polyp would have grown up to be cancer, something that caused me mild displeasure. That was 7 years ago and nothing untoward has been found since.
And yet last Friday I was sitting in the office of a venerable professor, a colorectal surgeon and an expert on inherited bowel cancer, and listening to this man tell me that I needed to have my colon out as a preventative measure. It wasn’t the first time I’d had such advice – earlier this year an equally eminent gynaecologist advised me to have a full hysterectomy, as a preventative measure. If I’d listened to the doctors I’d be sitting here, aged 33, in the full swing of surgically induced menopause, and minus a colon. In fact, I probably wouldn’t be sitting here, I’d be on the bloody bog trying to cope with the reality of life without a colon.
There is one comfort, and only one, in having HNPCC. The ‘H’ stands for ‘hereditary’, and that means you’re guaranteed to be surrounded by family members in the same boat. My brother was with me in the professor’s office, and put it beautifully: “It may be a bad colon, but it’s MY colon, and you’re not taking it out.”
They made a pretty strong argument for having a colectomy (that’s snipping out the old colon to me and you). They made it sound like life would swing on as always, apart from the fact that you’d skip serenely through your days knowing that you can’t get colon cancer coz you ain’t got no colon. But this is the 21st century, and I don’t take anything at face value. So of course I hit the internet to see what other doctors were saying.
I’ll be honest: there are many doctors who agree. A bit of major surgery to snip out the offending organ, and you’ll never have to think about it again. However, delving through the BMJ archives I found a study saying that undergoing this very major procedure would only add about 2 years to the life of an HNPCC patient. The particular study suggested that 2 years wouldn’t be worth the discomfort of living without a colon, and I heartily agree. Or as my ever-witty brother pointed out: “You’ll be spending most of the extra time on the bog anyway, and where’s the joy in that?”
I’m 33 years old and there is nothing wrong with me. By that I mean that I am not ill, nor do I have any symptoms of any kind of illness. But I won’t deny that there is a cloud hanging over me. Some days it’s a wispy little thing, barely there. Other days it’s a brooding black thundercloud that makes me feel I might as well blow my brains out because I’m screwed anyway (those days happen when I’ve been anywhere near a doctor).
But here is what I choose to believe about HNPCC, most days. It gives me an 80% chance of colorectal cancer, and 80 is not 100. My gran lived until the ripe old age of 59 before she had to have her womb out, and only succumbed to colon cancer at the age of 72. I am screened for all the cancers I’m most likely to get, every year. This hugely reduces my chances of actually getting it. I might live to a ripe old age like gran, or I might get run over by a car this afternoon. Brooding on my faulty DNA will get me nowhere. Being sensible and having a camera up my arse once a year – well, that may just get me to a ripe old age too.
15 Comments
23 August 2007 at 11:58 am
This is a wonderful piece of writing. Thanks.
Having HNPCC must surely mess with your mind. Nothing wrong today… but any day now there *could* be.
I’m reading Jitterbug Perfume, by Tom Robbins at the moment. In the book, the hero, Alobar, is striving for immortality. He has lived to the age of 700 years old and made friends with the god Pan – god of fun and debauchery. But when Alobar’s girlfriend disappears in a botched dematerialisation experiment he sits, depressed, in a darkened room for weeks.
Pan says to him, “Death hath more than one way to defeat a man, it seems. Death bests thee even though thou livest.”
Pan’s point, I think: If you’re going to be alive then *be alive!* Being alive but sitting weeping in a darkened room is not really being alive at all.
Sounds like you’re managing to be alive, most days. No mean feat.
Tom Robbins can usually help.
8 January 2008 at 10:13 pm
Thanks for your blog. I’m 32 & just starting the whole “annally” (er, anually) pokes & prods having HNPCC. My mother died at 49 from Uterine CA & my sister just finished chemo at 34. It was nice to ‘find myself’ here in your blog. Not many people know what it is & those that do make comments about ‘my weak immune system’ or other such misconceptions. Like, for example, just getting rid of the colon & uterus right away. I hope you continue in your path of good health. Thanks for your blog!
HNPCC2
9 January 2008 at 6:31 am
Thanks for your comments Courtney. I’m really sorry to hear about your mom and sister, and wish you the best of luck with the annual prodding. It’s no fun, but it does hugely increase our chances of staying healthy.
7 February 2008 at 12:48 am
hey there – I know this post is old, so I’m not sure if you’ll see this comment. But I came across your blog in a google search – and this post is so interesting to me. My husband had colon cancer at age 30 in 2006, we then found out he has HNPCC. he has a tumor in the ascending colon and had a total colectomy. he now has the small bowel hook-up, and outside of the surgical complications he had (very uncommon and very annoying, but usually don’t happen) he is doing great. he is in the “bog” more (ha) but it’s quick and usually not a problem. Incidentally, he now has a drop metastasis to his bladder/prostate from the same HNPCC cancer, which has our docs scratching their heads. he might have to have those organs out too. So HNPCC is not something to mess around with, that’s for sure – but i do agree with you, why have it out if you don’t HAVE anything going on yet. 80% isn’t 100, you’re right. and the 80% goes up until you’re in your 70’s, and by then lots of other people get cancer who don’t have it genetically. I would definitely not do it if you are doing routine colonoscopies. But just to rest your mind – if you ever DO have to have it done, it ain’t as bad as they say.
They told us he’d go ‘about 10 to 15 times a day’ and it’s nowhere near that. so no worries, and good luck to you. if you ever have a question about HNPCC feel free to contact me!
-Christin
8 February 2008 at 7:59 am
Hello ckuretich,
Thanks for your comments, and I am very sorry to hear about your husband’s illness. My brother and I have been so lucky to have discovered that we have HNPCC before getting ill – without the yearly colonoscopies we would both have had cancer by now, as we have both had malignant polyps taken out. (Malignant in the sense that they were bad, rather than cancerous – they had ‘mild dysplasia’ and would have grown into cancers.)
I think it’s amazing that there now is surgery that doesn’t involve taking out your entire colon, so that you can still go to the loo normally. (My mom had surgery over 20 years ago and wears a colostomy bag.) It’s reassuring to hear that having the surgery isn’t as bad as it sounds – but yes, I definitely wouldn’t volunteer for it with my colon currently healthy! I think one of the reasons my doctor recommends having a healthy colon out is because many of his patients are from very poor and remote communities, so can’t have a checkup every year.
Anyway. I want to write a blog post about getting your extended family involved in this thing. I feel it is my responsibility to tell people if they are at risk of having HNPCC, but my efforts have not met with great success so far. I guess it’s a difficult subject to think about, which is why they always break the news with a lengthy counselling session.
Good luck to you and your husband.
21 March 2008 at 12:34 am
I am 58 years old and I too have HNPCC. I had a hysterectomy and radiation in 1984 at age 35 for cervical ( not caused by HNPCC) ovarian, and endometrial cancer. I was well until 2001 when I had a Whipple Procedure for duodenal cancer. That’s when the HNPCC was diagnosed. Regular (every 2 years) colonoscopies caught high grade dysplasia in 4 areas of the colon last year and I have had a complete colectomy and ileostomy. Being a “bag” lady is not so bad and surely beats the alternative.
Family history made it look like we inherited it from my Mom but she was resistant to being tested. I wrote to my 11 cousins on that side of the family explaining that they may also have the gene and caused a bit of panic in a few. We finally convinced Mom to get tested only to find she is clear and the gene is from Dad’s side where we know of no cancer history. My younger sister and I are both “blessed” with this darn thing. She has had endometrial cancer only so far. A heartbreak for me is that my youngest son also was just confirmed to have it. My beautiful grand daughter has a 50% chance of also inheriting. I hope that science is able to correct the gene or replace it’s function somehow in the future.
Sometimes knowing you have HNPCC makes you feel like a ticking time bomb. But on the other hand it makes you more aware of monitoring health problems, keeping up with the screening, etc. It sure makes your Dr listen to your concerns. More recent research has lowered the probability of getting colon cancer to 50% rather than 80%. Hope they’re right. I have been so lucky so far. The trick is to catch it early, cut it out, and throw it away. Having the more radical OR has always worked for me. Thinking positive and keeping a sense of humour helps a lot too. And most important is the support of family and friends.
Good luck and good health to all.
9 May 2008 at 2:38 pm
Its nice to know, that I am not alone, under that cloud. HNPCC sucks.
27 May 2008 at 12:06 am
Hi,
I finished a bout with colon cancer last year and was diagnosed with hnpcc. I’ve yet to get a straight answer from any of my MD’s about what screenings I should do on a regular basis for the cancers other than uterine and colon. Can you tell me what tests you do each year?
Thanks!
megancaper_at_gmail_dot_com
27 May 2008 at 6:42 am
Hi Megan,
The thing about HNPCC is that it’s so rare that many doctors don’t really understand it. People with this condition should not get the same treatment as other people whose cancer have gone into remission. You are still, and always will be, at a higher risk than others for several types of cancer.
I see from your blog that you have had part of your colon removed. You are still at risk of getting cancer in what remains of your colon, and should have regular checkups to make sure everything’s OK – at least once a year, I think. (I’m not a doctor, but my mom had part of her colon removed, and 10 years later had cancer in the remainder of her colon – because the doctors thought she was in total remission and she stopped going as regularly as she should have. That was before we knew about HNPCC.)
I go once a year for a colonoscopy. I also go once a year to a gynaecologist who specialises in oncology. She checks my uterus and ovaries with a scan, checks my breasts (something I do at home anyway) and also does a CA-125 blood test which can indicate ovarian cancer. Although this is a fairly controversial blood test, it may show that there’s something wrong. (Interestingly, my gynae has also explained to me that you can get ovarian cancer even if you don’t have ovaries!)
My family and I are very lucky to be cared for by a university-based team who has done heaps of research into HNPCC and specialises in the condition. They understand the risk. I would advise you to either find someone who has the same level of expertise, or make sure that your doctors know you are not an ordinary cancer patient. Don’t let them tell you that you are in remission and can have checkups every 5 years, or something like that. It is simply not the case if you have HNPCC.
Well done for getting through it all, and good luck for the road ahead. The prof who cares for me says one of his students is doing research on the life expectancy of HNPCC patients, and all indications are that those patients who are in a rigorous screening programme have the same life expectancy as anybody else. So don’t slack with the screening!
I have linked to your blog in my blog list.
29 October 2008 at 5:51 pm
I just found your website on a google search. I also have HNPCC. I am 35 and was diagnosed 5 years ago after my Dad too had colon cancer like my grandfather (and as we later found out so did his brother and 2 sons!). I suppose because the gene had so predominately chosen the men in my family my brother was the one preparing himself and me, well I was a bit more relaxed. However the evil gene choose me and not him this time.
I too don’t think about it very often just when the doctor’s letter drops on the mat. As it has for next week. I am in the UK and have colonscopies and gastrocopies (we have stomach cancer as well in our little clan) every 2 years at the moment. They would like to do every year but I find the colonscopies incredibly painful, something to do with tight corners in my bowel. I have had 3 now and a lifetime of screening to be frank is quite grim.
They have talked about surgery, removing various bits – womb, colon etc but like you I do think if its not broke don’t fix it. Maybe if I develop cancer at some stage maybe then I would opt for that sort of surgery.
I have found the whole diagnosis, arming you with this mass of information but then lack of follow up appointments apart from the actual screening a bit of a disappointment. No-one seems to tell you whether screening is actually working, whether there are advances in the way colonscopies are done, whether they will be able to check for the faulty gene in our unborn babies. Lots of questions and noone to ask!
Hence a stiff letter to the hospital that looks after me and a surprising quick appointment to see our leading consultant here. Probably to advise once again to cut the possibly! offending bits out but heh at least I will ask the rest of the questions I have. His genetic administrator had been the shining light in all this and rings now and again for a chat to see how things are with the family. She said they have another family who is trying to set up a support group so I will see what is happening about that.
Take care everyone.
30 October 2008 at 4:58 am
Hi Kirstin,
Sorry to hear that you have joined the rest of us with HNPCC. Just wanted to comment on a few of the things you said:
- Painful colonoscopies… never had that. I just sink into a deep sleep and wake up when it’s all over. My brother also had his first one on the NHS, and said it was very painful, but subsequently he asked them to up the dose of drugs (dormicum & pethidine) and was fine. Maybe you should talk to them about just giving you bigger doses of the drugs when it’s happening.
- The NHS is not always good at giving you all the info you need. We also found that the genetic administrator / nurse who cared for us was the ray of sunshine in all this – she was happy to see us anytime, have long phone conversations and generally explain everything. She also arranged for our care to be transferred to another doctor when we all left the UK.
- Re whether screening works, I have some info for you. My current doctor is a university professor, and says that one of his students is doing a study on life expectancy of people with HNPCC who *are* in a screening programme. I’m sure you know how pathetic our life expectancy is supposed to be… well it turns out if you are being regularly screened, you have the same life expectancy as anybody else. Which is cheering! I’ll ask him about more on this when I next see him, and post the info here.
- Re checking for the faulty gene in unborn babies: read my post here http://hnpcc.wordpress.com/2008/05/09/should-you-have-a-kid-if-you-have-hnpcc/. At the bottom there is a link to a BBC story that explains you can now have IVF and genetic screening on the NHS if you have HNPCC.
Hope all that info helps, good luck with the consultant meeting. If someone sets up a support group, please let us know.
Best wishes.
27 October 2009 at 4:35 pm
Hi, Thanks for writing this blog
My dad died aged 49 from colon cancer and his mother died at 61 from it. She had 5 siblings, 3 of whom also died of cancer but I have been unable to learn the details.
I am 33 and had a colonoscopy last year that didn’t find any polyps. I am worried that my family history suggests HNPCC but I guess I can’t find out for sure because I have no living relatives who have had cancer. I am an only child. My dad has one sister but her colon was removed at a young age because of ulcerative colitis.
I guess I just have to assume I have HNPCC and get a colonoscopy every year or two? I am living in the US right now and my insurance covers this. We might return to the UK over the next few years. Do you know if I will be able to get regular colonoscopies on the NHS? Or do you need a genetic diagnosis?
Also, did you ever hear more about the life expectancy study for people with HNPCC? That is the most encouraging thing I’ve read so far!
Thanks again
David
27 October 2009 at 5:41 pm
Hi David,
It sounds like you definitely have HNPCC in the family, which means you have a 50/50 chance of having the gene. Before genetic testing they used the Amsterdam Criteria to determine risk – check it out here http://en.wikipedia.org/wiki/Amsterdam_criteria
We have been advised to have a colonoscopy every year, although the advice in the UK is every 2 years. But that is with a genetic diagnosis of HNPCC, not just family history.
You will be able to get a colonoscopy on the NHS regardless of whether you had the genetic testing. If you have a family history, they give you the first colonoscopy at age 20, and if nothing is found you have to go back every 5 years. If they find something, you have to go back after one year – if it’s all clear then, you go back again after 2 years. So there is a system for dealing with people who have the family history but not the genetic diagnosis.
We had our genetic testing done at Barts Hospital in London, and they may be able to help you there with information. But you do need one family member who have either had cancer or a cancerous polyp, for them to start the search for the gene.
I will ask my doctor more about that life expectancy study when I see him again in December. Basically, if you stick with your screening programme, the life expectancy for HNPCC goes from 40 to normal (i.e. you might live to 82 or get run over by a bus!)
And hey, from your name I assume you’re a bloke, so at least you don’t have to worry about the uterine or ovarian cancers. I like to look on the bright side
Best wishes
28 October 2009 at 4:50 pm
I found an abstract from a recent (2009) study:
http://www.biomedexperts.com/Abstract.bme/19720893/Ten_years_after_mutation_testing_for_Lynch_syndrome_cancer_incidence_and_outcome_in_mutation-positive_and_mutation-nega
I am posting it here in case anyone else is interested.
It does seem that as long as you’re getting screened every two years or so, you’re not significantly more likely to die of cancer than people who don’t carry the gene. This makes me feel a whole lot better.
I don’t think I am going to get the genetic test done because it would be inconclusive for me (because I have no cancer-surviving relatives to match the gene). The best it could tell me is that I don’t carry one of the most common HNPCC genes. I would still be at high risk of CRC and would still have to do regular colonoscopies. For now, I think I am happier to accept I have a 50% risk of carrying the gene and even if I do, it’s probably not going to kill me if I stick with the screening.
If they ever find anything, I’ll get it tested so that my kids will have that information when they grow up.
Cheers
David
29 October 2009 at 7:44 pm
HNPCC.. has your doctor mentioned aspirin use? A study from this September suggests it might cut the risk of developing CRC by a further 50%. The original study only looked at a 4 year period and found no benefits.. but then they continued to track the participants and found a significant long term benefit..
http://coloncancer.about.com/b/2009/10/05/aspirin-benefits-people-with-lynch-syndrome-hnpcc.htm