Welcome today to this interview. I just wondered if you would start off by telling me a little bit about the condition you have and how you found out about it in your family.
I have suffered from passing blood and mucus for 20 years and it was diagnosed as ulcerative colitis and it never flared up. It was just at a steady level all the while with no medication. Then after about 25 years things changed a bit and I was referred to a consultant who said that ‘going to the toilet about 7 times a day wasn’t a good quality of life’. And I just accepted that’s what colitis meant.
We tried different steroids for a year which didn’t improve unless I was on a very high dose and after the year things turned worse. I was getting stomach cramps and a further colonoscopy found there was multiple polyps in the bowel and it was suggested I had the whole of the bowel removed and a permanent ileostomy because of the threat of cancer. I had that operation in June 1999 and on the 10th day they said it was too late and I had already got cancer.
And then it was just in passing about the genetics side, which was a long word that didn’t mean a lot. And over the next 18 months I found out that I’d got FAP and how it could affect the family.
You mentioned the genetics of it. Who informed you of the genetics side of it?
First of all it was my surgeon when he said it was cancerous he said I think you had better see a friend of mine on the genetics side as it might be hereditary. And we never thought a lot about it you know. We thought well I’ve had the op, the cancer’s gone. It’s not going to affect me at all.
And do you have any other service support from anybody else?
No not really. The stoma nurse, with having a permanent stoma was brilliant. The actual operation side was great, you know. You couldn’t fault that. And the genetics side was brilliant at the clinic, but there was nothing written down. It was all told to you and you had to try and remember, and I think my wife and myself, it just passed over us a lot of it. We just thought ‘oh that’s interesting’. It might be genetic, but there was nothing to read, to understand the implications to our family because we’ve got 3 children.
So you spoke to a consultant, but did you have any genetic counselling from a nurse or anybody after that.
No. when I first had an appointment at the genetic clinic, one of the - they call them Clinical Nurse Specialists now, she came out to the house and took a family history and also explained it a little bit more, not in a great amount of detail, and she was good, you know. We found she looked on us as a family not just as a patient or something, and we felt totally at ease.
And when we went to the clinic afterwards and met the Professor, he didn’t look down on us and he was nice. The area was nice. The receptionist brought us a coffee and we felt at ease. But I think the word ‘counsellor’ sort of, we said we don’t need counselling you know. It’s not a counselling as such is it? They’re more of a friend. That’s how we found them.
Did you just see [the Clinical Nurse Specialist] once or did you see her again?
We saw her at home and then we saw them together. Then I think we had to go back again. Yes, I agreed to have the blood test and then about 18 months later when it was confirmed, I had to go back again for a bit deeper into the family with who needed to know or at least be informed so they could make their own decisions.
What did you feel when you were having the tests?
Not too bothered, as I say. I had had my bowel out and the cancer was by that time was well under control and I though: ‘Oh that’s it finished with me. I don’t need to worry.’ I had a test for freckles behind the eye, which is an indication and they couldn’t find any and I thought ‘Great’. We came back and we celebrated and although they said it wasn’t a definite clear… It was a week later when I had the phone call to say I had got the gene - which was a bit of a blow - because then we realised with three children… It gets a bit serious, you know. And you’d got the elation of the cancer being OK – and then suddenly they say: ‘Well, you know, your family could be at risk’.
And when you found that out, how did you feel?
It was only later when I look back; I think I noticed I’d been a bit irritable, a bit snappy. And not necessarily down in the dumps at all, but I think it just threw me totally out. And you were looking for ways to kind of mask it I think, as a kind of smoke screen, so you didn’t think too deeply into it. Our first thought was with a bit of luck, none of the children will have the gene. But with three of them and it being 50/50 each one, we thought, well fingers crossed, and hope for the best.
And have they been tested?
I had a son who was 25 at the time and a daughter who was 28. They decided to be tested straight away but that took about six months for them to make sure that’s what they wanted to do. They didn’t just rush in. The genetic people were brilliant. They didn’t just rush in and say ‘Here’s a test. It’s gone off’. They chatted to them the first time. They went back thinking they were going to have a blood test and it was another chat just to make totally sure they understood all the implications of having a genetic test. And it took about six weeks.
And my daughter got the result that she was positive and my youngest son wasn’t. And that just floored us. You were pleased for the son and you didn’t really know how to react with my daughter and I’ve got an older lad who didn’t want to be tested. He’s a quiet type. But it was only after she was positive that he decided he would be tested, when he realised the implications of it all. And he went through the same process and he was clear as well.
But it was a hard time and how the two sons reacted with the daughter as well and the other way round. I think there was a lot of - I felt very guilty and the first thing my daughter and my wife say is: ‘Don’t feel guilty at all’. And I think in the end, I perhaps didn’t feel guilty, but I still feel responsible and on a low day I still think of what’s gone on, but she has had her operation and it has prevented her having cancer.
So some good has come out. I think what did help was her surgeon said within two years she would have had bowel cancer and she would have had no symptoms. So I look on it and I think I’d rather me have had cancer and them find it out rather than my daughter finding out she’d got cancer.
How do you deal with it as a family?
My daughter lived away from home and we didn’t see an awful lot of her. There were some other - not problems - but families move away from each other and have their own lives. And at first she wanted to know things about a stoma and how I had managed mine but I suppose as she got more confidence and got a bit more information on things, then there was no need to ask about that side of it.
The only worrying thing is what I’ve found, they tend to group all the genetic genes together and say: ‘this is to prevent cancer or it might be cancerous’. But I just felt that in the initial part, if they had just said that... They did say it was virtually 100% certain that with the gene you’d have cancer, but they never mentioned all the other little side effects of the gene, if you like. Even after the op, I thought: ‘Well that’s the end of it. But suddenly it’s ‘You might have polyps in your stomach. You might have a little bumps’ and things like this and that was hard to take, because you think: ‘Well I have had all the surgery. I’ve had all the chemo’.
My daughter’s had the surgery but now we are having annual checks for polyps. I explain it as the gene that lets bumps grow, and it’s hard that I’m 62 and I read somewhere that with all the surgery, there’s no reason why you shouldn’t live until you are 60. My daughter’s 30 and you think, there’s a little bit of guilt comes in that I’m 62 now and it didn’t affect me until I was in my late 50s, so I had had a pretty good life. Now my daughter’s 30 and starting out with all the problems and the worry of it that what else might be there with the gene.
Did you have any knowledge of it in your family, prior to your own experience?
I think, because they don’t talk about it, do they..? A lot in the past. But my father, he was in his late 70s when he had a piece of his large bowel out. And they said, it was for a polyps but it wasn’t cancerous. And on his death certificate, because he had had a stroke three years later; and one of the contributory things was colon cancer.
And then my brother mentioned that my Dad’s sister, my aunt had died when she was in her 50s of bowel cancer. And that led to us looking back a bit at the family history and my father’s parents both lived to a healthy age and no mention of cancer. So we weren’t sure then whether it started with my father or perhaps even with myself. Because myself and the daughter are the only two in the whole of the family and it’s a big - I think there was potentially 50 relatives that might have been affected and we are the only two so we’ve not come off too bad.
You talked a lot about the positive care you’ve had from the NHS. The experience of the specialists and the nurses. I wonder if you had any negative experiences that you had…
Yes. I think it’s disappointing that I’d had three colonoscopies and sigmoid-oscopies or whatever you call them over 20 years. I’d actually had a colonoscopy six years before my op and they just said: ‘Oh yes everything’s fine,’ after that one. It was only when they were saying it was genetic that I asked to get - they didn’t ask me.
I thought it was better for the genetic people if they knew what state my colon was in six years before and got a copy of the notes to send to the clinic. And it mentioned on the one six years before they had found multiple polyps, done biopsies and found medium dysplasia. And when I had seen them in the hospital for the report there was just a note saying: ‘Mr Jones looks fine, he’s getting on well and no further need to see him unless he feels he needs to see us.’ And with what I know now, I think perhaps I should have been referred for another check-up.
The fact that it was my eventual surgeon who did the colonoscopy, who I found was brilliant and I would never want to do anything to cast any kind of cloud over our relationship, the actual person I saw was a doctor who was his henchman if you like, and who had signed the thing saying that I was fine and everything.
And there was one person, when I had some cysts, I had about 150 cysts through the gene. When I had to go and see him when I’d had about 140/150 done, he just said there’s no need. It’s cosmetic and picked who you want doing. And sometimes I think well should I do something on that side because it’s him and the way he’s treated me.
This is the GP?
The GP yes. Not my own GP.
It’s hard, because even now 6 years later I sometimes think aaaaaaaw. If he had just stopped and thought perhaps… But again my wife and myself think if I had had my op 6 years before, 5 years before, instead of having one operation and a stoma… I might have been tempted to have a different operation… The genetics side wasn’t so well known then and it might have been that they didn’t pick up on the genetics side, and my daughter would have had cancer. So I think, it will never go away, but we can cope with it I think. The fact that we think, well, the way it’s gone and my daughter hasn’t got cancer and if we changed things you don’t know. It might have been that she’d have had cancer because she hadn’t had any symptoms at all.
So the fact that they picked upon the genetics side is really important?
Oh very yes. Yes. Looking back, the cancer was a minor thing. The genetics side then, although it’s got its own problems, now for the future, at least they know they are looking after us and you know, we’ve got the NHS to thank for that really.
And in your experience it’s been better to know than not to know.
Yes because if I hadn’t have known, if they had kept the genetic side quiet, then as I say, my daughter would have gone through that. But I can understand why some people don’t want to have a genetic test or if they have a test, don’t want to tell anybody. You know it’s a very private little world you get into for a while you know. You worry about putting stress on other members, you know. Cousins and things like that, putting worry into them but there again…
I think the way that the genetic services handle it saying: ‘well here’s a phone number. If you want to, contact us, there’s no...’ I imagined at first that they’d be saying, they’ve got to contact us because they are at risk. But it was a case if they want to ring, and out of the whole, well it was 13 cousins in total. Two of them did contact them, mainly for their children. I don’t know what’s happened but they have started to go through it. And my sister as well, she went through the process and she’s clear. My brother, I’ve got a brother whose 67/68. Never had any bowel problems and his GP has made a note on his records that if he has any, then there is the possibility that it could be polyps and he’s happy with that.
So as a family now you are starting to talk about it?
Yes, I think we did it’s got to the stage now where we have learnt one way or another, probably all we need to learn about the gene and so we don’t talk about it so much now. It’s like a new toy isn’t it? You get a new toy and it’s the ‘in’ thing isn’t it? With the wedding of my son now for a few weeks it will be ‘oh the wedding’. I think it was the same with the genetic side. We talked a lot, we looked into things, we found leaflets out in the end and I did the website on the genetics side.
But now I’ve found that even with the web site… What’s on there now is what we know and I’ve got other things to think about so I have one check up a year and I get ‘niggly’ when that’s due. But the rest of the time, I think now we are able to put it at the back of our minds a bit, not totally but most of the while.
And if there was anything that you would want to be improved in terms of care for you and your family what would that be?
I think it’s, if the GP… I know it’s hard, because there’s that much information. But if the GPs and some of the surgeons as well and the consultants, know say, the basics of genetics, if they know little bits about things, it would help. You hear so many times people say - ‘the GP’s never heard of it’ - and you feel that you are training people almost. The consultant who checks my stomach he said: ‘You know more than I do!’ And in a way you feel, ‘Hold on. You should know more than me!’ But I think that’s the thing, if they all know a little bit about it, and it’s mentioned around instead of talking about this op, that op. If sometimes the word ‘genetics’ crops up sometimes, I think that would be the start. And also the information… I had to remember everything in our heads. And when you’ve go so much emotions going on… It’s hard to remember.
So for example if you could have some sort of leaflets or written information on the web, that would have been . . .
Yes. Well we found out afterwards with the FAP, the hospital in London have got a leaflet, and it’s been going for years, and something like that. I mean the Internet’s horrendous if you get the wrong pages. Even now, I look at some and they virtually scare me to death. But if there was something you could take away with you… You could look and read. And since, that was five or six years ago… But now things have improved as I say with the Cancer BACUP genetics booklet is good and there are other ones… There’s one from the North, I think. It’s there but it’s whether it’s given to people..?
And as a condition it’s related to bowel cancer or is it bowel cancer? Just to clarify. It is a form of bowel cancer?
It’s the gene that lets the polyps grow and because there’s so many of them it’s certain that one will turn cancerous.
And is it quite common?
This is another thing. They say it’s rare, the full name of it familial adenomatous polyposis. I don’t like abbreviations but FAP is pretty good for it. I forget…
I was just asking you whether it was common?
No. He said it’s very rare, you know. And if you’ve not got something to look at you go away from that initial thing and think ‘I’m alone’. And later on we found there was five families in the area. And you think crikey, you know, it is rare. But then among those 5 families, there could be 30-40 people with the gene.
And gradually with doing the website, you hear of more and more people with it and you don’t feel quite so alone. But the interesting thing is they mention how many people have got the gene. How many people… Well the statistics are done as a percentage of people who have had bowel cancer… But I just wonder. There ought to be some information how many people have got the gene and had successful surgery to give a bit of hope to people. If they say: ‘Oh 1% of the bowel cases are due to the gene.’ Fine. But if they say: ‘Well of those, say there are 200 people and 150 have had surgery and it has prevented cancer.’ Then perhaps it’s another look. Perhaps it should be looked at more in that light.
Is there anything else you would like to add? Any other information you would like to share or any points you would like to make?
Yes. I think, as I say. Now I have been invited to quite a few genetic things. Which I never thought health professionals would want to talk to a normal… I mean, we’ve been referred to as punters and users, and all sorts of things. And the only thing I would like to say is - if they are talking about genetic cancers, they try to group them all together, so the breast gene, the ovarian gene and the bowel gene, they group all together. And it’s what started me off on the genetic way.
When I read an article in a women’s magazine once and it said ‘the good news is if you have one of these genes it doesn’t mean you’ll get cancer’ and she said ‘with the bowel one you will get cancer’. And I think what they should do, instead of grouping them, is to say – ‘well there are differences’. Because I thought at the time, I mean, we heard about the breast one and it not being definite, and I thought, how can somebody make a decision about a major operation if they might not even get it anyway and then with the bowel one, because it is certain does it make that choice easier and to kind of class everybody the same? There are perhaps different emotions going through with the different genes.
So it sounds as though you are saying this is really important to really clarify the susceptibility to the cancers with the gene?
To re-clarify - what it means to have the gene.
Yes. If you say to somebody it’s 50/50 whether you get cancer or 75%, that’s got it’s own problems hasn’t it on taking the risk that you might be the lucky 25, but with the bowel one, you know. I think they say 99.9% or something like that and it makes it easier in a way… But when it can affect children so young it makes it more difficult perhaps as well. And I suppose what I am trying to say is not to treat everybody with a genetic cancer gene the same, because they do vary.
That’s a really good point. Ok. Anything else?
No. I could mention my website. As I say its www.fapgene.org.uk and I’d got it all done two years ago and wasn’t sure whether to actually go ahead and put it online. It’s was to give links to UK information and it was the Clinical Nurse Specialist at the Genetics Centre one day and the Professor said: ‘Have you done that web site?’ and I said yes. He said ‘Well I can’t find it’. I said well no I haven’t put it on line and I think the nurse’s words about amounted to “Well damn well get it done!” And the support I have had from them over it… I was very nervous at doing it, but that’s changed my whole life. I’ve learnt a lot through it and it’s become more or less a little job. As I say there’s different people who are actually interested in the website and that gives me a boost on a dark day. I think, well it’s helping, so yes.
Oh I know what I was going to say, to look at the partners as well. I found that the attention in the early days was all around me ‘How is he? How is he doing? What’s this?’ and ‘He’s looking well.’ They forget the partner or the immediate family and the phone never stopped ringing you know you have a major operation and the phone doesn’t stop. Whether it was because before I went in I was saying to people “well it’s to prevent cancer” and even the surgeon was surprised, they were all keen on contacting. When they found out it was cancer, there were lots of people we’ve never seen again. Whether they are worried because they don’t know whether you’ve got days to live, months to live but we found out true friends then.
We’ve now got friends who we know are interested in (wife) and myself, not to know what I’ve had done so that they can go and gossip to others and say he had so and so. The friends we’ve got are those who, and I’ve actually - just quickly. A lady who had her operation straight after me, we met, her and her partner (we) met somewhere in the chemotherapy over 30 weeks and we still go out for a pub lunch the 4 of us every 3 months. And at first we’d be talking about our operations and then (wife) and (partner) would be talking about how they looked after us and over the 6 years it’s gradually changed where we were there and they were there, and now we talk about life in general. The subject of our ops doesn’t crop up so it’s an interesting thing you know. It wasn’t a conscious thing that we said we are not going to talk about our ops any more. But it’s still the odd times she will say, I’ve tried this and it worked.
Yes it’s a journey when you start out that far apart and suddenly you realise you are having pub meals to enjoy yourselves not to support each other so much and to live, yes.
That’ really great. Thank you very much.
Update from Paul – July 2009
Is it only three years since I volunteered my story? So much has happened since in regard to my genetic disorder FAP and much seems to be still the same old story.
There are good points the main one being that I am now 10 years on from having the whole of my colon removed, surviving colon cancer and having a permanent Ileostomy.
Our pub lunches with XX and her husband still continue about four times a year with hardly a mention of colon cancer or our operations which followed each other with the same surgeon. However we did celebrate the 10 years and chatted about the good old days!
When I was diagnosed with FAP I remember thinking that this gene was not life threatening like one or two of the other ones. I was even told that at the genetic centre and now I know it can be one of those few that is life threatening.
The initial threat of colon cancer has certainly reduced with genetic testing but now the main concern for me especially are polyps in the duodenum. For others Desmoid Tumours although not cancerous are life threatening.
To think nothing was mentioned of this by my genetic centre or surgeon. Only when reading about the possibility of these polyps and asking about them was I put on a screening programme. This now entails an annual endoscopy of the top end of my waste system. Not one procedure but two though as my own consultant insists on using a side view scope to see around a few corners that a normal view scope misses. Also a dye to enhance any polyps.
All this sounds pretty good but there are no standard or guidelines nationally and many consultants have their own opinions. I take a small aspirin daily which some think might help slow their growth down. Others prescribe Celebrex which only adds to the confusion. For me the main thing I have is trust in my consultant who has one or two other FAP patients.
It was a blow to hear though that I have too many polyps to be removed and if they ever show high dysplasia I face the removal of more of my waste system to take away the threat of cancer. Then might it be wise to seek a second opinion for any alternatives ways of surgery.
The lack of any written information on FAP and its problems continues however. There has been no written information about my new polyps and we still have to remember everything we are told about the treatment. I do get a printed endoscopy report with a note of the procedure, equipment, drugs and the persons conducting it however. There is also the worry that after the age of 75 I have been told I might not be strong enough to withstand this very major surgery.
Also I feel frustrated that there is still no one person looking after me. If any symptoms show I have to go through my GP and then be referred to a consultant for that particular problem. At the moment I have two consultants or will have soon. One of my wisdom teeth has long roots which enter my sinus cavity. Another present from FAP. Just my luck the filling came out and any removal will be a hospital job. Now waiting for my NHS dentist to refer me which takes about 3-4 weeks apart from waiting for an appointment.
I would just love those aware of FAP and all its extra bits and pieces to get together and devise a programme of surveillance offering this to the patient. I know not everyone would want to know but I am sure many would.