Tonia Hickman and Daniel Peckham join Sam to discuss the connection between cystic fibrosis and bowel conditions such as bowel cancer. Tonia Hickman has cystic fibrosis and had part of her small bowel and some lymph nodes removed due to fibromatosis. Professor Daniel Peckham is Professor of Respiratory Medicine at the University of Leeds, an adult respiratory physician, and conducts research into the gut microbiome and cancer. This episode has been created in collaboration with Cystic Fibrosis Trust. Cystic Fibrosis Trust is the only UK-wide charity uniting people to stop cystic fibrosis. They fund vital research, improve care, speak out and race towards effective treatments for all.
Find out more about Cystic Fibrosis Trust
Transcript
Sam
Welcome to Can I Butt In, the Bowel Research UK podcast where we welcome bowel cancer and bowel disease, patients, researchers, healthcare professionals and carers to butt in and share their experiences. We’re picking a topic every episode and getting to the bottom of it. I’m your host, Sam Alexandra Rose. I’m the Patient and Public Involvement Manager at Bowel Research UK, and as a patient myself, I’m excited to bring more patient and researcher voices into the spotlight.
Hello and welcome to today’s episode where we’re talking about cystic fibrosis and bowel conditions. I’m joined by Tonia Hickman, who has cystic fibrosis and also had part of her small bowel and some lymph nodes removed due to fibromatosis. We’re also joined by Professor Daniel Peckham, Professor of respiratory medicine at the University of Leeds. Daniel is an adult respiratory physician and also conducts research into the gut microbiome and cancer. This episode has been created in collaboration with Cystic Fibrosis Trust. Cystic Fibrosis Trust is the only UK wide charity uniting people to stop cystic fibrosis. They fund vital research, improve care, speak out and race towards effective treatments for all. And before we go any further, I’ll add a little disclaimer that instead of saying cystic fibrosis in full, it may be that we refer to it as CF. So just wanted to flag that right at the beginning so that people know if we say CF we mean cystic fibrosis. We’re not talking about anything different or new. So welcome to the podcast Daniel and Tonia.
Daniel
Hello.
Tonia
Hello.
Sam
Before we start talking about the bowels specifically, Daniel, for listeners who don’t know, and admittedly I also don’t know too much about cystic fibrosis. So Daniel, can you give us an introduction about what cystic fibrosis is and how it generally affects people?
Daniel
Yeah, of course. Cystic fibrosis is a genetic disease. It’s what we call autosomal recessive, which means you have to get one gene from mum and one gene from dad. And basically the genes code for a little protein. And this little protein is a little pump that’s found in many cells throughout the body, including the lung, the gut. And what happens is certainly in the lungs you get dry secretions, you get increased inflammation in infection and this causes damage to the lungs and can eventually end up in in respiratory failure. In terms of the gut, it characteristically is associated with the pancreas not working and the pancreas is really important for providing the enzymes to absorb, especially fat. It can also increase abdominal symptoms. And it also can have significant effects in other parts of the body.
Sam
Lovely. Thank you for that overview. And, Tonia, what about you specifically then, can you tell us a bit about your story? So how and when was CF diagnosed for you and how has that affected you generally?
Tonia
So I was born at three months of age. I was actually born before my due date, so my mum actually recognised that something wasn’t right with me. She took me backwards and forwards to the GP and the GP kept saying that there was absolutely nothing wrong. She was being a paranoid first time mother. Even though I have an older sister who’s two years older than me. After finally going down, I don’t know how many times she went but. The last time that she went, she threatened the GP with a letter saying that she was going to take them to the papers if he didn’t take her seriously, at which point he provided a letter. She took me straight down to St George’s Hospital and they admitted me on the same day because they recognised straight away that something was wrong. I was diagnosed with CF and kept in hospital for a whole year and spent my birthday, my first birthday in hospital. I didn’t at first have anything wrong with my bowel, it was more my lungs at the time. As I grew up, the bowel became very slow, didn’t. It didn’t like certain foods. Then, I can’t remember how old I was, but it was in my late teens that they started to notice that some of my stool used to stick on the inside of my bowel. So I had a couple of colonoscopies where they tried to pick it off. And then I had to have some prep, which for people who don’t know with CF patients, you have to take certain preparations to enable you to empty your bowel, which is not very nice, but does the job to a certain extent. And then as I. So that’s when my bowel then became more problematic than my lungs and fast forward to when I’m much older, so 2020 just prior to that, I had a lot of bloatedness, couldn’t eat foods without feeling quite full, feeling quite sick. And unfortunately, COVID interfered with all the plans that were meant to be happening to sort of investigate what was going on and eventually I had a scan which showed that I had a fibromatosis, but then we didn’t know this at the time. We just sort of saw a mass and it was. It was then that I got quite nervous because I thought ohh, this could potentially be cancer, even though they didn’t say it, there were. There were signs that were suggestive of it. So yeah. So I had some other tests and took me to the point of where I had this bowel operation.
Sam
And for listeners fibromatosis, that is a that’s a benign growth is that right?
Tonia
That right, a benign growth of soft tissue. So they, so they say soft tissue tumours, right? So yes, it was benign, which the doctors were very surprised at because they were convinced it was not going to be.
Sam
Was the fibromatosis. Is that directly related to CF or is it just kind of a bad luck of the draw sort of thing?
Tonia
There is… So I asked the question if it was related to CF. They said they could not specifically say it was and I asked what was the cause for it and they said the cause is unclear because that there is no clear reason of why somebody would have one.
Sam
Right. So to deal with that, you had part of your small bowel removed?
Tonia
So part of my small bowel removed, the actual mass itself, some lymph nodes and they discharged me from hospital. I had to wait for two weeks before the actual result came through so obviously in those two weeks I was panicking, thinking ohh what is the result going to be? And then when they actually told me that there was nothing to worry about, it was benign, that was it. I was just discharged from their care straight away because it, you know, there was no cancer found.
Sam
Yeah. And how have things been with you in your bowels since then?
Tonia
Well, they don’t tell you that that your bowel actually takes on a mind of its own after you’ve had a part of it removed. So they it’s everything’s a lot, shall we say, swift. Yeah. So, you know, you eat and you kind of think. OK, I’ll have a couple of days. But you know, it kind of it goes. Through the shortened bowel a lot quicker so you have to be prepared for that.
Sam
Yeah, Daniel then, what problems or increased risks might arise related to the bowel for people with CF? I mean we, we’ve touched there on not really being sure if the fibromatosis was related for Tonia. So, so what things could be related with CF regarding the bowel?
Daniel
Well, abdominal symptoms and bowel symptoms are very common in cystic fibrosis and I think what you hear what happens is if you look at the bowel, the little protein little pump which we call CFTR cystic fibrosis transmembrane conductance regulator. Massive word, but these little pumps are actually in the gut and they’re very important for fluid absorption secretion. They affect the, the mucus is grossly abnormal. The transit time, the actual movement of food is slowed down and individuals get we call meconium ileus equivalent or distal intestinal obstruction syndrome where basically this thickened mucus just gets blocked often at the end part of the small gut as it goes into the large gut, and this is a real big complication. And also it causes quite significant symptoms. And if you actually look at a lot of the data these, these little pumps probably drive inflammation. So there’s probably there is significant inflammation in the gut. And we know that because if we measure things like calprotectin, which is used in inflammatory bowel disease as a marker, it is increased in cystic fibrosis. So what’s really important in terms of the pancreas not working is you need to take these enzymes. Often laxatives are quite important. And of course you can get further complications such as malignancy.
Sam
So is there a direct link then between CF and bowel cancer?
Daniel
Well, if you go back to the early literature, a lot of it was in the American data set. That was the American registry. They found an increase in bowel cancer. We’ve recently reviewed, looked at the data from the English population because we were able to look at the actual prevalence of bowel cancer and what we found is that in individuals with cystic fibrosis it occurred a lot younger, so you’d expect sort of bowel cancer occurring in the 70s. It’s in the 50s in CF. We found that it was about five-fold increase for age match. So the actual. It seems to occur younger. We found slightly more in females right sided colon rather than left, so it’s slightly different. And I think there’s growing evidence. If you look at CFTR, this little protein that we find that actually it is associated as a cancer suppressor gene, the CFTR gene, the CF gene actually obviously is important in suppressing cancer. And so when it’s defective, it probably increases the prevalence. And interestingly enough, when we actually looked in a recent project, we looked at individuals with bowel cancer. We found a higher number of people with bowel cancer without CF carried one of the CF genes. So one of the mutated genes, so it suggests that perhaps that little gene or that little abnormal protein even in carriers might slightly increase the risk.
Sam
So it sounds like then there’s things that we can learn about people generally with bowel cancer by looking at people with CF and bowel cancer.
Daniel
Absolutely. And I think it actually goes beyond bowel cancer. I think there are other cancers that may be predisposed. One of the things that is important is that recently the new drugs have appeared. These are called CFTR modulators. For around 90% of the population. And these drugs actually partially correct this little pump or this abnormal protein. And that’s really important because it’s quite exciting, because actually it also downregulates inflammation. And theoretically it could actually have a very important impact, and this is a personal opinion, in terms of longitudinal outcomes. But yeah, I think that what’s really important is that the CFTR’s probably very important in the mechanism and in fact through CF and understanding CF pathologies, we might actually be able to understand bowel cancer in the non CF population and actually develop new treatments.
Sam
Interesting. And is it a factor as well that people with CF now are living longer and living healthier than they used to many years ago, and therefore cancer has become an even bigger issue, because, you know people are living longer and therefore seeing like more of these issues.
Daniel
Yeah. I mean what’s really important is if you look at the actual number of cancers, they’re very, very small. So you know, it’s very important that people don’t get very worried about it. I think it is important to identify risks because if you identify risk, you can actually put tools into place to actually protect people. But you’re absolutely right. If you actually look at the median age of the CF population it’s very young. OK, people are living significantly longer and we don’t actually even understand because the introduction of these new drugs has totally changed the prognosis. And of course what’s really important is we understand what’s going on now because as people go towards their 70s, we’re gonna increase the whole cohort of people who without CF would get cancer. And if they have an increased risk, then that risk would even be accentuated. So I think age is a really important thing and we may find, for instance, that we see cancers that we didn’t expect. So absolutely, age is very important. Outcome is dramatically improved. And what’s so important is that we understand future complications with ageing and with CF so that we can avoid and maximise outcome and quality of life.
Sam
What about when it comes to treatment and screening for bowel cancer? Or I guess for bowel disease as well? Is that any different for people who have CF?
Daniel
Well, certainly in Leeds we use the American guidelines and it is because if you think about it, individuals with cystic fibrosis, if they get cancer younger, there’s no point using a national screening which is in for older people. So the first thing is we bring the age right down, so we advocate and offer our patient cohorts colonoscopy screening and the colonoscopy screening will be from 30 because if you have a lung transplant, you massively increase your risk about cancer. So CF plus transplant further increases it. So bowel cancer is increased in people with transplant with and without CF, but CF further increases it. So we go from 30 onwards and for individuals with CF, we advocate 40 onwards. We do colonoscopies. You could use the FIT test. But the anxiety about the FIT test is what we’re looking for is polyps, not looking for bleeding ulcerative malignancy. And in fact, the only FIT test we’ve done has proved a negative colonoscopy. Because, of course, bleeding ulcers, inflammation is very common in cystic fibrosis. So we believe at the moment and there is a national data set that’s being collected so that we can actually provide outcome data and work out exactly what the pick up rate of polyps is.
Sam
Sounds like there’s still there’s so much that is researchable here. I mean, for example, do we know why a transplant increases cancer risk?
Daniel
Yes, I mean cancer risk is in fact, malignancy is one of the most commonest cause of mortality and morbidity in post-transplant patients. And the reason being is you are massively immunosuppressed but also you, also the drugs themselves can actually predispose. The sort of malignancies you tend to see in transplants and things like lymphoproliferative disorders, lymphomas, but certainly bowel cancer is increased and so therefore it’s very important to routinely screen. But we also see things like cervical cancer and that’s due to probably the immunosuppression and underlying viral infections.
Sam
Well, one of the other things that always really interests me as a patient myself is the patient pathway. So, Tonia, I wanted to ask what your experience has been of that pathway. For example, when we talked a little while ago now before the podcast, we talked about how you are under two different hospitals, one for CF and then one for having your small bowel operation, so can you tell us about what that’s been like being under those two different hospitals?
Tonia
Yeah, I found I actually found the whole experience not as comforting as I would have liked. Because they didn’t seem to talk to each other about what was actually happening to me when I was having the operation. It was sort of having to after I’d had the operation, I ended up talking to one of the CF team nurses. And letting them know that I’d had the operation certain medications that they’d put me on because I had certain numbers that weren’t quite right. I think my potassium was low and something else was low, so they’ve given me these IV bags which my CF hospital didn’t know anything about and sort of suggested that actually you gotta be very careful with medications and treatments that you give CF patients. You know, you need to speak to their to the CF team to check that it’s all OK. You know, no contraindication indicators with anything else. So it was. I was slightly alarmed that there was no kind of, you know, just sort of keeping each other up to date with what’s happening, what, what medications they’re going to give me to treat certain things after the operation. And me almost being the go between sort of messaging and. Calling my CF team and saying are you aware of this? And they’re saying no, we’re not so, I just. And I think as well because it was COVID. And I wasn’t allowed any visitors. So normally if you’re in hospital for a reason and you’ve got some of your family coming, they’d be able to talk to the doctors to find out what’s happening. So I had none of that. So it was just me, me by myself. Trying to just make sure everything was OK with my CF team and I just wonder if this can’t be sort of looked at and maybe some kind of a solution that all teams are keeping up to date with each other. And it’s not even, you know, coming away from the bowel operation itself. It’s just with any other hospital where I’ve been for other treatment and they don’t talk to each other. And if you get a copy of a discharge letter and you sort of say, well, can you send that to my CF team? They say, well, no, no, you have to do that. So it’s slightly frustrating and I just wish something could be done about that.
Sam
Yeah, that sounds like a real burden to have on yourself because there’s so much admin that you have to do as a patient. If you just have one condition.
Tonia
Yeah, so and. You know there are. There are some letters I’ve not yet sent to my CF team, but I’ve had a conversation with them at my follow up appointments, but it’s having to remind myself. Ohh I need to send them that. I need to send them that so that they’re aware. So they’ve got it on record if they need to look back, it’s there for them. So there just seems to be gaps that I think need to sort of try and be filled.
Sam
It sounds like your CF team at least is on top of it and knows when they do find out.
Tonia
Yeah, definitely, definitely they are. Yeah, they are a very good team. I’m very appreciative of them. So yeah.
Sam
Daniel then, we talked about research – what research is currently being done on bowel conditions in people with CF?
Daniel
Oh, there’s lots of research. I mean, we’ve just completed a large study looking at the gut microbiome in cystic fibrosis and it’s been really important to looking at how these modulators, these new drugs impact had improved abdominal symptoms, but also had a change to different bacteria. And that’s really important because there’s bacteria probably cross talk to the lungs, to the brains and to the rest of the body and see if it’s very pro inflammatory, but also looking at things like diet. You know, we in the past we’ve advocated very poor diet in, in a way, the only way we could. Actually. Keep people well was by giving a very high fat, often low fibre. Right, which of course is the worst possible thing if you wanna. If you wanna get colorectal cancer, you should have a high fat, low fibre diet. And we’re beginning to see that actually potentially altering the thought would be significant impact on improving gut health, which I think is particularly important. There’s some really interesting stuff looking at things like MRI scans, CT scans, etcetera, looking at the movement, how the gut works. There’s also models looking at cellular dysfunction, looking at how CFTR dysfunction could potentially modulate malignancy, and there are quite a few studies we’re doing at the moment in terms of epidemiology, looking at outcomes, etcetera with cancers. So there’s a lot of work going on in the space of GI and it’s been certified as one of the top 10 priorities in terms of research. So there’s a lot of work going on funded through the CF Trust at the moment, so it’s very exciting and I think that we are beginning to see improvement. What I do want to get a message across is everybody should think positively because I think we can drastically reduce any risk. I also think that we can find ways of minimising the risk and also potentially we can help people without CF, which would be a wonderful gift for the CF community.
Sam
I’m just wondering about, as I often do the experiences during colonoscopy. So because of the presence of mucus, does that mean that the process of colonoscopy is different in these instances? So for example, does it increase discomfort in the procedure or does it make the visibility difficult? Does it make it difficult to spot things and stuff like that?
Daniel
Yeah, absolutely. There’s no two ways about it. I mean, we, we’ve heard of bowel blockages and quite often when people get blockages of the stool, we have to give very high gastrografin intravenous fluids, and it can be really hard to unblock the bowels in cystic fibrosis. So even with modulators, you need a very extended laxative regimen. So we tend to have a very specialised regimen, which we’re always altering to improve, improve, improve and lots of different ones from Australia, America, the Bronx and etcetera. And so we do a more extensive, I think the thing that’s been really interesting is a lot of people have turned around and said people don’t want a colonoscopy, but what we find is actually sitting down and going through why? And having that, we’ve got an amazing senior dietician, who’s so on the ball, talks to the people, tells them all about the different laxatives, how to take them, got a protocol. I’ve got another colleague who’s really interested in helping us, and we’ve already done about 120 out of probably about 250, we need to do so we’re doing really, really well at the moment and what we find is that as we change and intensify the laxative regimen we find that we’re getting very good views and we can go. We can see everything. All the parts of the gut. So we’re doing very well. We’re getting the polyps. We’re removing the polyps, getting histology. What do people think about it? Some people will never do it again. But in the majority of people, they’re prepared to have it done every five years. And I’ve been really impressed by how people have taken it up now. You know, people like myself get offered colonoscopies because I’m getting old. And so, you know, colonoscopy and probably other radiological interventions are probably going to be more routine in the future. So you do need to modify it for cystic fibrosis. No two ways about it.
Sam
Tonia, what have you had to have follow up by way of endoscopy or anything like that. What’s that been like for you?
Tonia
I haven’t yet had, so I don’t think I’ve had an endoscopy actually, but I should have a colonoscopy after. So I had my bowel surgery in 2020, so I should be having another colonoscopy at some point. I haven’t had the date yet, but I did mention that I think it should be sooner rather than later because you know the possibility. OK, the fibromatosis was benign, but it’s, you know, I’ve had one, so it’s likely that I could get another one and I just feel that I need to be on the ball with it and be ready to have it, I mean, you know, like I said, they’re not the best things, but it’s better to have it done. Just so you know, for your health. You know where you’re at.
Sam
Yeah, gives you that peace of mind.
Tonia
Yeah.
Sam
So, Tonia, is there any research that you think needs to be done? Is there anything in particular that you think that clinicians or researchers should be focusing on or anything that needs to be raised, awareness of what’s, what’s important to you?
Tonia
Well, I think as Daniel just said, you know all of the research that’s been done at the moment it you know it’s highlighting the area. Can we have more colonoscopies? Maybe not, because I just think like, you know, they can be quite invasive, they can be, you don’t want too many at sort of, you know, in a short period of time. But at the same time, that is one thing that is gonna highlight if anything is going on. Ohh, just I mean, you know, just to be aware if there are any sort of symptoms. That you have, there are certain symptoms like what I had, you know, constant bloatedness not being able to eat without feeling full stomach cramps. Those sorts of things, if they could be sort of highlighted a bit more just to be aware, these are certain symptoms that could be you know, linked to it then yes. But I can’t think of anything which would be more there’s being aware and there’s being you know sort of having these treatments. That not being too much because it can almost make somebody go “I don’t want to do any of it at all”. Yeah.
Sam
Well, I think it’s such an interesting area that we’ve talked about today. Thinking about where these two things cross over because people can think of CF as one issue and bowel cancer or bowel disease as another issue. But I think it’s especially interesting when you have… nobody can see this, but I’m making sort of a Venn diagram with my fingers. That’s what I’m currently doing. And we’re sort of sitting in in the middle of where these issues all cross over because we we’ve had similar podcast episodes where we’ve talked about FIT tests for people who are visually impaired for example, because how do you do a FIT test if you’re blind? With great difficulty if it’s hasn’t been made purposely for you. And we’ve talked about bowel cancer screening and cervical screening for people with bipolar, for example. So yeah, I just think it this is another great one where we’re taking these two issues and looking. Actually, people can be affected by both of these things. So Daniel, do you have a final takeaway that you would like to leave people with about CF and bowel conditions?
Daniel
Yep, I would like to be very positive. I think that you know, certainly with our screening we’re seeing very low numbers. I think that we’re beginning to understand what goes on. I think you’re absolutely right that for me, cystic fibrosis is an inflammatory disease and like many other inflammatory diseases, there is an increased prevalence of colorectal cancer. So I think we’re beginning to understand it, which is important. What we are doing actually and partially funded by the CF trust is we’re actually doing a survey of the UK patient population to actually identify knowledge and needs in terms of information etcetera, because I think we’ve heard beautifully that there sometimes is you know. It doesn’t quite follow through, does it? If you have, especially if you have a complication in another disease. Sometimes the communication between CF specialists and let’s say, gastroenterologists or surgeons can be quite poor. So I think what we need to do is probably we need to actually make people aware of what cystic fibrosis is as individuals get older as they get fitter and to sort of stop necessarily always focusing on the lung, but actually focusing that this is a systemic disease associated with things like diabetes, etc. But. And so and what we need to do, I personally think is we need to. My advice is that we all including myself, need to work on health rather than medication treatments. We need to have a healthy lifestyle, healthy diet and have appropriate screening, which is you actually can cope with not to do a colonoscopy every week.
Sam
Yeah, nobody wants that! Thank you. And yeah, I mean, so I was saying about having these two research areas that kind of overlap in, in the middle and a person can be affected by both, but the same can be said for how people are treated as well. I mean, Tonia, in your case with having these two different hospitals that need to communicate with each other in order to give you the best care, it’s having that holistic approach, isn’t it? So that you’re not just treating one disease or the other disease, but actually both in an individual person, so and the importance of overlap there as well.
Tonia
Yeah, definitely, definitely you just, you know, you just need to be careful that one treatment is not going to interfere with that. The other condition, you know, you need to make sure that if you’re going to have a certain treatment that you know your condition can cope with that and is able to deal with that. Because you could have a treatment which is just not going to work within CF because of the complications that are there. So they just need to be aware and I think you know, if you’re, if you’re gonna be talking to each other these things would come to light.
Sam
Yeah. And there there’s also the pressures on you as well for advocating for yourself.
Tonia
Yes, definitely. Who knows who knows your condition better than oneself so.
Sam
Absolutely, absolutely. Well, thank you both for coming to talk to me about these issues today. It’s been really good chatting to you both.
Tonia
Thank you.
Daniel
It’s an absolute pleasure. Take care.
Sam
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