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INSIDE HEALTH – Dying at 91Èȱ¬, Familial Hypercholesterolaemia FH, Delirium

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Programme 6.

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TX:Ìý 18.10.16Ìý 2100-2130

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PRESENTER:Ìý MARK PORTER

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PRODUCER:Ìý FIONA HILL

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Porter

Coming up today:Ìý Familial Hypercholesterolaemia - inherited high cholesterol levels that can lead to a heart attack in your 30s. Only 15,000 people in the UK know they have the condition, but there could be up to a quarter of a million more who don’t. We join a team who are using genetic testing to identify families at risk before it is too late - families like this.

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Clip

Joanne

I’m Joanne, this is my son Alf.

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Alf

Hi, my name’s Alfie and I’m six.

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Joanne

And this is my dad Christopher.

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Chistopher

Hiya.

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Joanne

And we’re a family of FH cholesterol.Ìý Three generations.

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Porter

More from Joanne and her family later.

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Along with delirium – confusion, hallucinations and delusions are surprisingly common when people are ill – but what does it feel like if you’re the patient, particularly a polite one.

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Fiona

The nursing station wasn’t far away but I thought out of courtesy I must tell them I’m going.Ìý And then I shouted out – I’m being kept here against my will.

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Porter

So even though you thought you’d been kidnapped you thought it courteous to let the staff know that you were leaving.

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Fiona

Yes, yes.Ìý And then I remember trying to hit people with my holdall.Ìý I think I recognised my surgeon but I didn’t want to hit him in the place which hurt most.Ìý And I remember thinking that but I was still trying to hit somebody.

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More from Fiona and what the latest patient-focussed research tells us later.Ìý

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But first a subject that affects all of us at some stage. ÌýDying. ÌýNot the most cheery subject - which is probably why we don’t discuss it as much as we should.

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Surveys suggest that, given the choice, two thirds of us would like to die at home, and Audrey from Lancaster is very clear where she and her husband want to spend their last days.

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Audrey

We have had discussions with our doctor and we have told him that we would much prefer to stay in our own home as long as it is humanly possible and not to go into hospital or even into a hospice if it’s possibly avoidable.Ìý For us it would be horrendous.Ìý There would be lots of time when there are people round you that you don’t know, things going on around you that you’re not happy about.Ìý The whole atmosphere would be alien to us.Ìý We just want to stay in our own home.Ìý We’ve had the same conversation with our family, so they all know exactly what we want.Ìý It’s not a pleasant thing to discuss but when you get to our age you’ve got to face facts, that is life, it’s going to happen to all of us and much better to have things in place so that you know exactly what’s going to happen and you’re not left wondering what’s going to happen and your family not knowing what you want.Ìý People are very, very frightened of it but it is going to happen to all of us and we’ve just got to face it.

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Porter

Most of us share Audrey’s views but few ever set out their wishes. So it should come as little surprise that most people never achieve their wish to die in their own beds - something the NHS is keen to change.

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And GP Dr Nour Ghazal and his colleagues are leading the way. The King Street and University Medical Practice in Lancaster has twice won a national award for high standards of end of life care,Ìý and most of their patients who choose to die at home do so.

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The cornerstone of their success is identifying patients who are probably in their last year of life and including them on a supportive care register highlighting a pressing need for forward planning. But how does Nour broach such a difficult subject as to where someone wants to die?

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Ghazal

I don’t think any of us would like to talk about death itself or when we are going to die but once you’ve started that conversation, and it varies from patient to patient, the more you know the patient, the more they get to trust you, the easier it will be to break up the barrier that patients normally don’t like to talk about.

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Porter

Margaret McCartney’s listening in our Glasgow studio.Ìý Margaret, this is a very difficult issue to raise, isn’t it, I mean how do you go about it?

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McCartney

Yeah it can be really difficult and what can be really difficult as well is it’s not always quite obvious who it is that’s going to die.Ìý And if you’re trying to plan good end of life care that means that you have to talk about the potential for this being part of the journey towards the end of your life, whether it’s the last few months or maybe the last year of your life. We’ve an awful lot of patients who are actually not going to die that year and that’s the issue – we’re having to talk about what might happen in the future with a lot of people who are actually not at the end of their life.Ìý So it has to be done in such a way, I think, that you’re raising the possibility but it’s not a situation where you’re giving a false prognosis.

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Porter

Nour, if you identify a patient as being someone who perhaps should be on your register do you ever get people react badly to your approach?

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Ghazal

Yes, mainly families that will find it very difficult to talk about their mum and dad.Ìý But normally when they get the trust of the GP and especially when they know that the whole idea about it is to empower the patient to decide how they want to live, where they want to live and most importantly where they want or how they want to die, I think from the GP perspective seeing hundreds of patients with the end of the journey it’s always difficult for the patient and the family because you only die once, so it’s always critical to get that right from the very beginning.Ìý I think the most helpful aspect is to respect patients’ wishes, so the patient is able to communicate with us earlier on what their wishes are, where they want to be cared for.Ìý That will be extremely rewarding to achieve what the patients would have.

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Porter

And by wishes you mean things like – I want to die at home – and is that what most people – is that what most people tell you?

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Ghazal

Most people will choose that.Ìý Some of them will, when they don’t have that much support, either they live alone or they don’t have extended family, they will choose to die in the hospice and again it’s a hugely important aspect to respect where do they decide to die.

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McCartney

The kind of thing that I quite often will ask patients who I’m concerned about is how do you think you’re doing just now, what are you worried about particularly with the future, is there anything that you do or don’t want to happen to you.Ìý And sometimes having these opening doors to these conversations can be really useful because it gives me a handle on what the kind of issues are the person’s worrying about and quite often it’s not what I think they may be worried about.Ìý So they can be a real disparity between what I think’s important and what the patient think is important.Ìý And it means really writing a care plan.Ìý Now care plans – I mean people mean different things by them – but what I mean about it is really very basic, it’s writing down what you would and wouldn’t like to happen to you in an urgent situation or if you phone out-of-hours or for an ambulance do you want to make a statement, actually you really don’t want to go into hospital under any circumstances or only under very specific circumstances.Ìý Are there priorities that you have that you want to make clear to whatever nurses or doctors are caring for you.Ìý Do you want a particular family member to be called, have you decided that you do or don’t want certain types of treatment, have you discussed cardiopulmonary resuscitation for example.Ìý So these are really important things to talk about and to document but I don’t think it’s a good idea to imagine we can do it all at once, it’s the kind of conversation that will often take place over weeks and years.

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Porter

Margaret, you mentioned the Do Not Resuscitate order in there…

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McCartney

Such a lot of angst attached to this.

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Porter

Yeah, which is essentially – I mean in our area it’s a yellow sticker that goes on the patient’s notes or on their care plan that says they don’t want to be resuscitated in the event of a cardiac arrest.Ìý It causes a lot of angst when you try and raise this issue.Ìý But the idea behind is what?

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McCartney

So cardiopulmonary resuscitation is very useful for a group of patients who’ve had a sudden incident, they’ve had a heart attack, something has happened and that’s a very good thing to do.Ìý But when we’re talking about someone who’s already dying it is not a good treatment and all it does is it creates a different type of death.Ìý And if you don’t have a form that says don’t do cardiopulmonary resuscitation the automatic response of emergency services will be to go ahead and to do CPR.Ìý And that means you may end up having a different kind of death from the one that you wanted to have, quietly and peacefully with your family.Ìý So I think it’s really important to consider these things well in advance, so that all the paperwork is done and people know what to do and importantly what not to do right at the end of the life.

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Porter

Nour, how well are you doing, I mean you’re one of the best practices in the country at this, what should we be aspiring to?

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Ghazal

The number of patients that we have on the supportive care register has increased four folds from 150 to 606.Ìý Only 150 of these at the moment has cancer, so there have been a huge increase in the patients for non-cancer who has been started and have supportive care register in place.Ìý The other thing is there was a huge increase on the DNR CPR discussion and DNR CPR documentation and there has been increase – huge increase in the figures where the patients died at their chosen place rather than the hospital itself.

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Porter

When you say a huge increase what sort of proportion manage to fulfil their wishes in that respect?

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Ghazal

Thirty eight to 50% increase.

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Porter

And one of the striking things for me there is that actually most of the people you’re looking after do not have cancer and that’s been historically a problem is that people with cancer tend to get better care in this area than people who are dying of other conditions and yet most of us die of something else.

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Ghazal

You’re absolutely right, especially with dementia that has been increasing now.Ìý So I think getting the supportive care as soon as there’s dementia diagnosed I think that will be critical for their end of the journey, as we call it.

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Porter

Margaret?

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McCartney

Palliative care really did develop as a response to cancer but the thing is that we’re no longer dying with cancer, for so much of our population now it’s really moved on to heart failure, chronic obstructive airways disease, frailty, dementia, people having multiple chronic illnesses.Ìý ÌýSo palliative care has to shift to help those people, not just the people that the services were originally developed for and that means a big change in, for example, who hospices admit or who palliative care nurses or staff see.

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Porter

Margaret McCartney and Nour Ghazal. And you will find some useful links on planning for death on the Inside Health page of the Radio 4 website.

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One thing we all wish for is a timely death - preferably not too soon - but for the 200,000 or more people in the UK who don’t know that they have familial hypercholesterolaemia or FH it may come much sooner than they expect.Ìý

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While sceptics may argue about the pros and cons of lowering cholesterol in most of us, few dispute the dangers associated with the very high levels seen in the inherited condition FH - which can lead to heart attacks in your 30s unless picked up and treated.

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Steve Humphries is Professor of Cardiovascular Genetics at University College London and has developed a genetic test to screen for FH. So where does the cholesterol come from?

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Humphries

We eat cholesterol in our diet but actually our liver makes quite a lot of cholesterol.Ìý So cholesterol’s important, we have to have it.Ìý The problem is if you have too much in the blood, as everyone knows, it furs up the arteries, causes atherosclerosis, early heart disease and then you may well have a heart attack at an early age.

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Porter

And how high, what sort of levels are we talking about?

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Humphries

The cut off that we use in the UK is if you’ve got a total cholesterol over 7.5 millimoles per litre then it would be worth considering whether you have FH.Ìý Obviously it’s the LDL that’s important and that’s the major component of that 7.5.

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Porter

And that’s the so-called bad cholesterol as opposed to HDL, which we often talk about being the good cholesterol.

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Humphries

That’s correct.

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Porter

How many people in the country do we think are affected?

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Humphries

That’s a very interesting question.Ìý Up until the last few years our estimate was about one in 500 people, which means that there would be about 120,000 people with FH in the country.Ìý What we now believe, using the knowledge from the Human Genome Project, we actually now think it may be almost twice as common, so maybe one in 250 or one in 300 people.Ìý The problem is that we only know about 15,000 people with FH currently diagnosed being looked after in lipid clinics.Ìý So there’s an awful lot out there who’ve got FH and who don’t know it and who are at risk of having a heart attack at an early age.

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Porter

Why does it matter so much that we don’t pick it up?

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Humphries

People with FH, if you’re a man, about 50% of men with FH will have had a heart attack by the age of about 55, about half.Ìý Women are protected from – they have the high cholesterol – they’re protected from developing atherosclerosis till after the menopause, because their HDL is high, it falls after the menopause.Ìý And so about a third of them will have had a heart attack by the age of 60.Ìý And what we’ve shown is if you find FH people and treat them with lipid lowering drugs, statins are the obvious ones, then you lower their cholesterol back to normal levels and they then live as long as the general population.

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Porter

So what are we doing about the people who might be out there in the UK that have this condition and don’t know it?

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Humphries

The most cost effective way of finding more FH patients is to take the ones we know and to test their first degree relatives, it’s called cascade testing, it’s a very cost effective way of finding new FH patients, obviously we want to find them young, as young as possible, so we can give them right dietary advice, lifestyle advice and statin therapy if it’s needed.

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Porter

Cascade testing for FH is being rolled out across the country in a programme supported by the British Heart Foundation.Ìý Lorraine Priestley-Barnham is FH Clinical Nurse Specialist at Harefield Hospital in Middlesex.

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Priestley-Barnham

So here we’ve got Joanne.Ìý Joanne was referred to us because of her high cholesterol and her family history.Ìý Joanne had told us that her father, Chris, underwent coronary artery by-pass grafts at just the age of 31 years of age.Ìý That to us starts to ring alarm bells and she underwent genetic screening here at Harefield Hospital and we identified a gene which was the cause of her high cholesterol.Ìý From that point we initiated the cascade testing and we started with the first degree relatives, which included Joanne’s father Chris and also Joanne’s siblings – two brothers – and her three sons as well.Ìý Now we know that Chris is carrying the gene also, which is where Joanne will have inherited it from.Ìý And then when we went on to test Joanne’s family and her sons we’ve just found that her young son here, Alfie, he’s the only one out of the three children who has inherited the gene.

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Joanne

I’m Joanne, this is my son Alf.

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Alf

Hi, my name’s Alfie and I’m six.

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Joanne

And this is my dad Christopher.

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Christopher

Hiya.

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Joanne

And we’re a family of FH cholesterol – three generations.

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Christopher

Well I know I’ve had high cholesterol since I was 23.Ìý I had a cyst on the elbow and the doctor sent me down to the hospital to have it removed.Ìý They took it, analysed it and it was a pure cholesterol lump and they said how this didn’t get into your heart I don’t know.Ìý We had such a young family when I found out.Ìý I was okay until I had the heart attack at 30.

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Joanne

I knew I had the condition, I knew I had high cholesterol and then I was referred to Harefield, probably about 14 years ago, and that’s when I was pregnant with my first child.Ìý I know that my dad passed it on to me but then me being pregnant with my child as well then it was a 50/50 chance of my children – that scares you, that you’re actually going to pass it then down to your children.

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Christopher

There was new things coming through all the time after my first bypass and then I got heart failure in 1999.Ìý I come to this lot and these are absolutely amazing.

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Joanne

My heart absolutely broke when I found out my youngest has got it but, you know what, I’ve grown up with it, I’m still here and I wouldn’t be here unless it was for the support of Harefield.Ìý And now I know that Alfie will be under their wing and he’ll have a massive bright future ahead of him.

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Christopher

What they found out and the new drugs they’re getting – statins – because I wasn’t on a statin at all before here – incredible.Ìý No I’ve got no worries with Alf.Ìý The new medication I’m on and this little fellow, it’s advancing all the time, so he’s got a future.

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Porter

So that’s what’s happening at Harefield but is that being replicated across the country?Ìý What proportion of people with FH are going to be reached by this cascade system?

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Humphries

So I’m pleased to say that we now have nurses that are in 14 different centres throughout the UK, some in Scotland, very active project in Wales that’s been running for several years and in Northern Ireland and this cascade process is being rolled out throughout the country.Ìý There are still some areas where there are no funded FH nurses and so it’s still a bit of a postcode lottery and that’s something I very much hope can get sorted out in the next few years.

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Porter

Of course one of the conventional tools that we use in general practice, and a lot of listeners will be familiar with this, is we enter people’s cholesterol, their age, their blood pressure, their height and their weight etc. into our computer and it spits out a figure that says whether they’re at high risk or not.Ìý Is that accurate in people who’ve got FH?

Humphries

No it’s absolutely not and the NICE guidelines said you shouldn’t use those algorithms for estimating risk in FH patients and if you look on the algorithm themselves in fine print it also says not to be used for these patients.

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Porter

I think ours actually alarms if your cholesterol is eight or above, I think it says go to different guidelines…

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Humphries

Exactly right.

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Porter

… but underneath that it’s still…

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Humphries

Yeah that’s right.Ìý The problem is that if you take, for example, a young woman in her mid-30s, doesn’t smoke, she’s not overweight, her blood pressure is normal but her cholesterol is nine and it has been nine since birth then she has this single major risk factor.Ìý The risk algorithms say at the moment she’s at very low risk but they don’t take into account the fact she’s had the high cholesterol since birth.Ìý So they very much underestimate the risk of that individual.Ìý And I’m afraid we still have a number of examples in the cascade programme where particularly young women but also young men have come to us and said – my GP says my cholesterol is only nine but I don’t qualify for a statin.Ìý And of course this is exactly the wrong advice.

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Porter

Professor Steve Humphries. ÌýAnd other clues to FH - besides a cholesterol of 7.5 or more - include a close relative who’s had an early heart attack, now that’s under 55 for a man, or 65 for a woman, and/or cholesterol deposits. These are typically fatty lumps under the skin, often seen below the eye, around the elbow, knuckles or Achilles tendon - or as a pale waxy ring around the coloured part of your eye - the iris - although this is often nothing to worry about in older people in whom it can just be a normal sign of ageing. More details on our website.

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Now to a rare insight into delirium - an acute confused state seen to some degree in as many as one in five sick patients in hospital. ÌýAs Catherine and her mother, Fiona, discovered when Fiona started to behave oddly a few days after major surgery.

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Fiona

I found myself in a very badly furnished room and I knew I’d been kidnapped to experiment on and I just thought I’ve got to go, I’ve got to escape.Ìý And I got dressed.Ìý I did have a catheter in which I tugged away and got rid of, got dressed and walked out.Ìý The nursing station wasn’t far away but I thought out of courtesy I must tell them I’m going.Ìý So as I walked by I’m leaving and they said – No you can’t.Ìý And then I shouted out – I’m being kept here against my will – and I probably shouted it three times.Ìý

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Porter

So even though you thought you’d been kidnapped you thought it courteous to let the staff know that you were leaving?

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Fiona

Yes, yes because as I passed they looked up and I said – I’m going, I’ve been held against my will.Ìý I asked to use the telephone and I phoned and got my friend Muriel and I said I’m being held against my will, come and get me.Ìý And she said – Where are you?Ìý And I said – I don’t know.Ìý And then I decided I’d got to run for it and I got to the door, which was a swing door, and they put somebody the other side of it.Ìý So I was with my back against this door trying to force it open and I couldn’t.Ìý And then I remember trying to hit people with my holdall.Ìý And the politeness comes in again because I think I recognised my surgeon, it might not have been him at all, but I didn’t want to hit him in the place which hurt most and I remember thinking that but I was still trying to hit somebody.Ìý There was also something else physical going on.Ìý Up in the cor – of the cei – where the ceiling meets the wall there were what appeared to be enormous cobwebs moving around and then I don’t know what happened for the rest of the night really, I think they just put me out.

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Porter

One of my favourite bits has to be the when you’re kidnapped you say goodbye on the way through.Ìý Catherine, this must have been pretty alarming for you seeing your mother in this way or seeing anyone in this way.

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Catherine

Yeah, no, it was horrendous.Ìý I came in on a sort of routine visit and I had to go a different way into the ward because there was a kafuffle.Ìý And I hadn’t realised that the holdup was my mum being sat on by a sort of phalanx of doctors and nurses.Ìý And it was – there’s my mum in the middle of this kafuffle because of course obviously she’s normally very polite.

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Porter

She was hand bagging the…

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Catherine

She’s hand bagging the…

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Porter

… the staff.

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Catherine

Hand bagging the consultant.Ìý But it was horrific because she was determined to escape and I had found her.

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Porter

But she saw you as an ally immediately.

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Catherine

Yeah, she grabbed me and she said Catherine you’ve got to get me out of here, you’ve GOT to get me out of here.Ìý But it was also huge moral leverage because I think if you were kidnapped and you found someone who could get you out and who you loved – love in the world you have to rely on them to do it.Ìý And she was grabbing my hands – if you don’t get me out of here I will never, ever trust you again – because it was so vital to her.Ìý And this was very distressing for me because obviously I’m on one side – I was on the side of her abductors – and on the other I couldn’t bear the sight of her in pain and terror.

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Porter

Your mother doesn’t really remember clearly how this resolved, I mean suspect you were there the whole time, it was a worrying time for you, how long did it take before she was back to her old self?

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Catherine

Oh gosh, there was a very agonising 10 minutes, I think they gave her a shot and Muriel, my mum’s friend, did turn up and it was wonderful when she did turn up because I was on my own for a bit with Ma and I just had no idea how to calm her down, she was very determined for about 10 minutes to get the hell out of there.Ìý And it was most upsetting, she’d just had a major operation, it had been all very traumatic and the week had been really quite difficult but this was the worst bit.Ìý

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Porter

And when did she return to normal – was it that day or did it take…?

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Catherine

That day.Ìý I stayed until she had sort of calmed down and probably a couple of hours and she was better.Ìý And looked like she was going to have a calm night.Ìý And I remember going back the next day real crossed fingers hoping that she’d be back and she was.Ìý So it was 24 hours really I suppose and she was walloped I expect with some antibiotics.

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Porter

How did the staff explain it to you?

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Catherine

I don’t think very well because I left very, very distressed and I didn’t get any sense that this would go away or that they had any idea of when it would go or if it would go.Ìý So I thought is this it, have I lost my mum.

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Porter

Fiona, looking back now on these episodes how do you feel about the whole thing?

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Fiona

It still frightens me, it frightens me that it could happen again because it was so unlike me and out of the blue.

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Porter

Given how common delusions like Fiona’s are, surprisingly little research has been done on how delirium affects patients. But a new study recording their experiences on intensive care - where delirium is particularly common - addresses that. It was led by Critical Care Research Manager at the University of Oxford, Julie Darbyshire.

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Darbyshire

They describe sort of feelings of persecution, sometimes torture, they’re restricted in their movement, they’re physically restricted in their movements but then they interpret this in ways that they think they’ve been kidnapped and they’re tied to the bed and they can’t go anywhere and they really struggle to explain to themselves what’s going on, so they end up making up stories to put them in a place that they think they are.

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Porter

Can you give me some examples of the sort of things that patients are experiencing?

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Darbyshire

Really common is the idea of being within the transport system, so there’s a lot of people who think they’re on planes, trains or boats.Ìý People often think that they’ve gone on a journey somewhere else well, so we have patients who in the interviews they talked about how they’d been kidnapped and taken to a foreign country.

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Porter

And it’s not only to another country, I mean sometimes it’s to another planet.

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Darybshire

It is, alien abduction reasonably common in the intensive care unit.Ìý People believe that they’ve been kidnapped by some alien race.Ìý The intensive care unit’s very unfamiliar and I think that’s part of the problem, so people don’t realise where they are, so try and create a reality that they can exist in.

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Porter

Mark Borthwick is Consultant Pharmacist at Oxford’s John Radcliffe Hospital.

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Borthwick

In a hospital like this, patients on intensive care units, the rates of delirium are about 50-80% of patients.Ìý Patients on trauma wards, so hip fracture patients, the rates of delirium there probably about 30%.Ìý On general medical wards maybe as low as, although it’s still quite a high number, about 15%.

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Porter

That’s a massive proportion of patients.Ìý Are we picking all these people up?

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Borthwick

I think we pick up the patients who draw attention to themselves, so the agitated type patients who do not form the bulk of patients with delirium, those sorts of patients we see a lot of.Ìý The majority of patients with delirium are actually very quiet, they become withdrawn, they may be misdiagnosed as being depressed.Ìý Those sorts of patients you would not necessarily discover just by their behaviour, so we have to employ techniques to try and unearth delirium in such patients, we use screening tools to find those.

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Porter

Julie, do we know anything about the longer term implications?Ìý Assuming the patient makes a full recovery from whatever put them on the unit.

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Darbyshire

Most people recover pretty well.Ìý There are some patients who continue to have problems, they keep thinking about the experience that they think they had in intensive care, even though they know that it’s not true.Ìý So there’s a proportion of patients who suffer from post-traumatic stress disorder as a result of their intensive care stay.

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Porter

So they get flashbacks to things that never really happened?

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Darbyshire

Yes, absolutely, they’re remembering things that didn’t happen and they know that they didn’t happen but it still doesn’t stop them remembering it.

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Porter

Julie Darbyshire talking to me at the John Radcliffe Hospital. And there is a link to her research on our website - along with the latest NICE guidance on preventing and managing delirium.

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That’s it for this programme - and for this series. We will be back in the New Year so do email insidehealth@bbc.co.uk with ideas for subjects you think we should be covering

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Until then, thank you for listening and goodbye.

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ENDS