Jean - Interview 09

Age at interview: 56

Age at diagnosis: 50

Brief Outline: Jean has Motor Neurone Disease (MND). She has given samples to a DNA bank for MND, and is now part of a study using blood and spinal fluid, alongside other tests, to improve the diagnosis and understanding of MND.

Background: Jean is a retired consultant anaesthetist. She is married with two grown-up children. Ethnic background/nationality' White British.

More about me...

Jean has a rare form of Motor Neurone Disease (MND), called Progressive Muscular Atrophy (PMA). It is a form in which the symptoms of muscle weakness progress more slowly than on other forms of MND, but there is still no cure for the condition and only one drug treatment available which can slow down the symptoms to some extent. Jean is no longer able to work.

 

The incurable nature of MND, Jean argues, means that for many people with the condition taking part in research is one of the few things they can do to help fight it. There remain few treatments being tested, so a lot of current research is aimed at understanding the possible causes of the disease and why it progresses so differently in different people. Jean has participated in two different studies requiring tissue or blood samples. The first is a DNA biobank, which will store samples of DNA from a wide range of people with MND and enable researchers to look at the genetics of the condition. In some families there are genetic mutations which mean several family members get the condition. In Jean’s case, the condition is ‘sporadic’, meaning no-one else in her family has it, but it is quite possible that MND is triggered by some combination of environmental factors and a genetic predisposition. 

 

The second study involves giving regular blood and spinal fluid samples, as well as taking part in MRI scans and various tests of brain function. The study aims to look for biomarkers – particular characteristics of the samples – which can help explain why the disease progresses differently in different groups of people, and may also help provide a diagnostic test for MND. Jean does not expect to get any personal benefit from the research in her life time, though it would be wonderful if a break-through happened soon. But it is something she can do. She has to go twice a year to a university hospital some distance away, and she tries to get the hospital not to put research appointments too close to her clinical care appointments, but it depends when the MRI scanner is available. Research appointments take several hours, and Jean notes that people with disabling conditions may need considerable family support to take part in research. But one advantage of being there for a long time is the ability to build up a strong relationship with the research team and discuss the latest research with them.

 

Jean personally has no problem with the lumbar punctures needed to take the spinal fluid samples, and performed many herself when she was an anaesthetist, but she knows some people find them very uncomfortable or very occasionally get painful headaches afterwards. She notes that people can opt out of that component of the research if they are worried. She is also not troubled by MRI scans. She recommends other people consider taking part in research, which can be interesting and satisfying. Her message to professionals is that people who have taken part in research like to know the results, so giving them some feedback is an important way to recognise the value of their contribution.

 

Jean has a rare condition, Motor Neurone Disease. She volunteered to participate in biobanking and was not worried about what it might involve.

I think then I probably settled back into thinking that, “Well, I’m not going to be able to take part in any trials” because, again, of my, the rarity of my disease. And so it was a little while after that that I learnt about the [Motor Neurone Disease] study in Oxford which was going to be starting in the near future. And it seemed to encompass anybody with MND, and so I thought that this was another opportunity to actually be a little bit proactive about my disease. It had taken a very long time to diagnose, the same as many, many other people who walk down the same path, and the lack of biomarkers and a specific test for MND is one of the major problems. And I’d felt for quite a while that that was quite an important issue for not just myself, but for everybody who has the condition. And so I thought I ought to put my money where my mouth is and volunteer. I did get the information and I read what it involved, and I thought, “Well, I can do that.” I don’t have a worry about things like MRI scans or blood samples, I don’t even have a particular concern about lumbar punctures. I’d, in my career as an anaesthetist, I had performed similar things thousands of times, and it didn’t hold any concerns to me at all. So I thought I’d volunteer and I found it quite an interesting experience. It’s, I think one’s got to be well aware of the time element - I don’t mean in terms of the number of visits per se, I mean it’s twice a year - but you’ve got to be prepared to give up, you know, five hours plus to get through all the tests that are needed, and I knew that as somebody with slowly progressive MND then I was probably better placed than many to be able to cope with that.

Jean (a former doctor) thinks that staff should make no assumptions about people's knowledge, and ensure they explain everything clearly to everyone.

Anything about the information that you were given that you feel could have been improved, or that you thought was particularly good or? Was it easy to understand?

 

Well, I thought so. I’m probably not the best person to say that, though, because, you know, I have got an advantage in having a medical background. But I think in all honesty that they explained things very well, and I would imagine that for everybody who takes part they feel they’ve got a very good understanding, either from the documentation that they received, or alternatively just talking to the researchers, because they do go through it, you know, very carefully, and I think in fairly easy language. But that’s the one thing that I’m probably not the best placed person to be absolutely certain about, because I’ve got that sort of medical knowledge, that you sort of take a bit of jargon for granted because you know it, and maybe things may, if they slip through the net it may slip past me too. But I would doubt it. I think that the information I got would have been self-explanatory to everybody and was very clear and precise.

 

And actually you’d mentioned before that sometimes you feel disadvantaged as a doctor dealing with other health professionals. And actually this sounds like an instance where that wasn’t the case, that they didn’t assume knowledge that you didn’t have.

 

No, I don’t think it did, basically because I think in a research project that it’s of paramount importance, that you’re dealing with volunteers, basically, and I think it’s very important that you must be sure that whoever it is happy that they’ve got all the information that they need. And I think the way to treat anybody, from whatever background they are, is to treat everybody the same. And I think that’s true in clinical medicine as well. Don’t make assumptions. And I think it’s, you know, of paramount importance if you’re dealing with a volunteer in research. And therefore it’s much easier for the researchers to go through the same talk initially with first-time study participants, irrespective of their background, and I think that’s what they tend to do.

Jean felt the only 'proactive thing' she could do when she was diagnosed with Motor Neurone Disease, an incurable condition, was to take part in research.

Well, I was thinking that maybe the place to start would be that when I was diagnosed with MND that I found having a chronic disease that was completely, there was no treatment for, it was incurable, a terminal condition, very strange, because I’d been an acute physician and I was used to being able to deal with things, which - one always hoped for a positive outcome, and obviously not everything in medicine is positive, but you can do something about it. And so the thought of just sitting, waiting for the disease to take over seemed very alien. And so I thought the only proactive thing that I could do about the disease was maybe to take part in any research. I did discover that because my variant, which is progressive muscular atrophy, is rare, that actually my usefulness in research was pretty limited, and the majority of trials, for example, that occur, not very frequently but if they do have a drug, then they generally do not go for the rarer variants, because they’re trying to find a speedy result, really.

 

So I was fully expecting not to be able to take part in any research at all, but when I, fairly soon after I was diagnosed with Motor Neurone Disease - actually probably a year later when I had to stop work - I wanted to do something, and I read about the MND DNA bank. And it said they could take blood from anybody, and I thought, “Well, at least that’s something I could do.” I wasn’t near a centre that was taking blood. I think when I looked into it, I think there were only two centres that were actually had research nurses taking blood. But I did contact them, and in fact a month or so later a research nurse came down from one of the centres, and just to take a blood sample, for it to be used in a DNA Biobank, and I just felt that that was something proactive that I could do. I also discovered that they were keen to have any siblings who might be interested, and if there were any parents still alive then that was useful too, and both my parents are marching on into extreme old age and very healthily.

 

So I was quite surprised when the research nurses were prepared to travel quite a long way to get, go down to [City], which is where my parents live, and collect samples from them. And it happened to coincide when my sister, who actually lives in [County], was visiting, so they collected samples from all of us, and they’ve all been added to the bank. And whilst I appreciate that it’s probably not as useful as if there was a familial form of MND - and mine is very, it’s definitely sporadic - but being able to contribute and have something there that researchers can use for now and in the future was something good to be able to do.

Jean gets a 'sense of satisfaction that I'm doing my bit'. She hopes by taking part in biobanking she will help others with MND in the future.

And so I’m very prepared to do all the bits necessary, and for me it seems that if you’re trying to glean as much information as possible, then if I can provide as much sampling as possible of all the various different tests, then I get a sense of satisfaction that I’m doing my bit. And I know that I’m not doing my bit for me, and I don’t think that is so important. It’s not as if there’s a drug out there just sort of waiting to be tested that’s going to necessarily be of benefit. But what I hope is that people who are following on will be able to gain the benefit from those of us that have participated in research, that they may discover something that is useful as a marker in the future.

 

And I think that basically sort of sums up why I wanted to do it, and the fact that I have no qualms about providing any particular samples and it held no worries for me at all.

Jean supports animal research as a necessary evil, and also stem cell research, which may reduce the need for animal testing. New ways of collecting stem cells from adult skin could be a great step forward.

And what about things like animal research and stem cell research? Do you have views about those, or views that you want to share?

 

I think they are a necessary evil, in the sense that I don’t see how you can progress, and there are countless examples of life saving drugs that occurred, that were developed because of some animal testing. I think it should be as minimal as possible, but you’ve got to get models of the disease in order to be able to understand what’s happening, and you can’t do that with human beings, and it’s got to go back down, whether it’s a fruit fly or a zebra fish or a mouse it’s, it is a necessary evil.

 

And stem cells I’ve always felt that even with embryonic stem cell research that it is an important tool. I think the regulation’s got to be phenomenally tight, and I think what is great is that, now they’re able to develop the equivalent stem cell production from adult skin cells, is a huge leap forward and gets rid of a lot of the ethical dilemmas, providing they really are going to produce what the researchers hope. And it looks as if it is going to go that way, and actually you should be able to then have in a cell culture cells which are going to develop into Motor Neurone Disease because they’re coming from people who are affected by the various genetic defects. So it’s a great step forward, and one would hope that one would see quite a lot coming from that. And that in turn might reduce the amount of animal use in the future. So we’d all like in an ideal world that you don’t have to use anything from any animals at whatever stage in the animal hierarchy, but if we are going to get anywhere to improve conditions for people with the disease, and actually get some effective treatment, then I think one’s got to accept that that sort of research has to carry on.

Jean thinks the media sometimes like to 'fan the flames' in the way they report problems with medical research.

One thing was about media presentations--

 

Right.

 

--of research, and I mean the Alder Hey case, Northwick Park* and so on.

 

Yes.

 

I think the media love sensation, and they often portray things in a, in a manner which is inflammatory, I think. And of course, you know, there are lots of issues that should be made public, and I’m not suggesting for a moment that things shouldn’t be done in an ethical manner, but I do think that the media like to sort of fan the flames quite often, and I think that certainly happened in some of those cases.

 

*FOOTNOTE' This refers to two cases which were widely reported in the media. In the Alder Hey case, it was discovered that a pathologist at Alder Hey children’s hospital had been retaining organs without consent after post mortems in the 1980s and 1990s. The investigation into this case was one of the factors which led to the setting up of the Human Tissue Authority. The second case involved a Phase 1 trial at a commercial research unit based at Northwick Park Hospital in 2006 when several healthy volunteers became extremely ill. 

Jean took part in two studies about Motor Neurone Disease (MND). She describes how the studies aim to improve knowledge about MND.

Well, with the DNA bank it’s a long-term storage facility, so basically it’s going to be available to researchers throughout the UK, and with collaboration possibly worldwide, and they’re going to be able to sort of continue the lines, the cell lines for a long time. And so it’s definitely a long-term storage proposition that one’s contributing to. And I’m also well aware that they’ve got a multitude of samples, some of which are going to be drawn on in the near future, maybe particularly with things like familial MND, where they’re trying to look for the genes that cause the defects. And for those who are sporadic, who are maybe slightly older, our samples might not be used straight away. They may be further down the line that they need them. But I’ve got no problems with that. As far as I’m concerned, once I’ve donated the sample it is entirely up to the researchers and the Biobank source to decide how they’re used, and I have no particular sort of feelings that they should be used, you know, for one thing and one thing only. Not at all. It’s there to be used as seen in an appropriate manner, in a timely fashion, whenever that time might be. I think with the, with the biomarker study it’s a five year study, and obviously it’s a slightly different proposition in the sense that the samples are going to be compared from all the ones that are taken and to see if something specific comes out that is a marker for MND. So I would expect that we may know a little bit sooner the results of our collective I suppose samples, as compared to the Biobank, which might be in 15 years’ time before, you know, a sample I donated was used, whereas with this I would hope that we would know as a community the outcome of the study, whether it’s in a positive or a negative light, but a slightly more short-term use of the samples.

Jean would like to donate her brain and spinal cord to the MND brain bank when she dies, but has not investigated exactly how to do this.

I suppose one hope might be that this kind of biobanking research might actually then lead to more treatments?

 

Yes, yes. And I think that it’s obviously very important for the research that they get samples all the way through, and I’m sort of contributing at the one end with sort of blood samples and spinal fluid samples and so on, scans, but obviously to complete the loop it needs to be all the way through. And I suppose if I’m going to be really proactive about my disease I should be thinking about the ultimate step of donating after I’ve died, and brain and spinal cord. At the moment that’s something I don’t have to think about too closely just yet, but it seems that if you’ve started at one end you probably ought to think about sort of completing it at the other. But that’s something for the future.

 

And that is something that you can do? There is a scheme to—

 

Yes, yes.

 

--to take brains?

 

Yes, there is. I haven’t gone down the road of really investigating all the details of how it works, but I think that would be the sort of ultimate end to the biomarker study. And really it’s so important with, it’s such an orphan disease, really, that the understanding of what’s going on is still, you know, relatively early days. It’s not as if there’s something that’s going to drop off a pharmaceutical shelf next week. It would be lovely to think that a penicillin moment might occur, but I think I’m a realist, and it’s a complex disease, and it’s going to be a very complex pathway. And it’s going to be quite a long time before something really comes to fruition from it to effect, to provide really effective treatment for people with the condition.

 

And in the meantime the understanding of the disease is so important in order to be able to reach that stage, but if we can actually do something to reduce the length of time to diagnosis - which for me wasn’t so bad because I’m so slow in progression - but if you’ve spent, I think the average time is 14 months to diagnosis, and then you’ve only got another 14 months left to live, that’s an awful lot of time when you could have been sorting out your affairs, doing things you wanted to do, but also maybe having the one and only treatment that may be better if it’s started earlier. So I think there’s a very strong case for, you know, looking at biomarkers and providing samples in order that they can progress the understanding of the disease that much further.

Jean doesn't mind if the researchers collaborate with commercial companies, if it helps in researching Motor Neurone Disease. But she would not want it used for 'commercial exploitation'.

So are you worried about the long-term Biobank and where things may end up and how your data may be used?

 

I think yes, only in the sense that I just don’t want it to end up sort of just being used for, I don’t know, commercial exploitation. I want it to be used specifically for MND research. It’s not that I wouldn’t necessarily give samples for another form of research if it was necessary, but I, you know, I’ve given it on the understanding that it is to the benefit of people with Motor Neurone Disease in the long term, and so I would want some sort of safeguards that they’re used appropriately. And from the information that I’ve been given for both studies I don’t have any qualms about that.

 

Is there anything in the information that suggests they may be used by private companies, sort of pharmaceutical companies?

 

I don’t think so. I, of course I haven’t, I haven’t read – I mean, it’s quite a while since I gave to the MND DNA Bank. I’m fairly certain that that wasn’t there, but having said that, if it’s done in collaboration with the academic team, that it’s working together, I don’t care who uses it if they actually get a result. So I’m not in the least worried, if it is collaboration between a pharmaceutical company and an academic department, the MND Association, whoever it might be. That’s absolutely fine by me. And, but I, it’s a while since I read the small print, and in all honesty I don’t feel so possessive about a blood sample that I worry about it. And, you know, I feel that so long as the bank is regulated sort of in a reasonable way, that the samples are controlled, what they choose to do with them, I think, is up to them.

Jean thinks researchers are not always good at sending research results to participants. They should see it as a way of acknowledging their time and effort.

I think researchers are quite often rather bad at feedback I’ve taken part in sort of small survey sort of studies before which are going for a sort of PhD thesis or whatever, and you’d be just interested to know, having given your time, what the results were. And even when they say, “Oh yes, we’ll let you know”, the chances are they don’t. I actually know that, you know, with the [study name] study for example, I'm pretty certain that we will get the feedback, and I don’t care really how long it takes, because I’m fully aware having sort of done research myself, of the processes involved and that, you know, just because you’ve had your last appointment for the research that a fortnight later you’ll get the results, I mean it isn’t like that at all. But I would want to know what the upshot was of the collective experience of everybody who took part, what they gleaned from that, and whether it has moved things forward or kept things as they are or, you know, it’s been - whether it’s negative or positive, it is very good to know, and it just makes you feel that your part has been of value. And I think there’s a tendency that if you have taken the time and trouble to participate in something, then it’s just a common courtesy to sort - a short little brief summary that can be sent out to the participants is enough. I do also know that because the MND Association is very good at putting out information with a big study like [study name], it would come out on their website anyway. So I’m fairly certain I will get feedback. And I also think the researchers are geared up to doing that. But I think in all studies it would be a lesson to everybody that if you are taking up people’s time, a little bit of feedback doesn’t go amiss, and then people are much more likely then to volunteer in the future. I think if you don’t do that, then there could be a thing next time, “Well, I gave up all that time and effort, you know, to take part in it and you couldn’t be bothered to tell me, why should I participate again?” And I have met people who’ve - in various walks of life - who that has happened to, and they just refused to take part in any more research. So I think from the researchers’ point of view it’s a two-way benefit.

Jean was glad to have positive feedback about her cognitive functioning. However, she worries that people found to have mild cognitive impairment might be seen by some staff as less able to make key decisions.

Just sort of going back to the initial feedback, actually, thinking about the cognitive element, do they tell you the results as they go through it?

 

Well, yes, they did, but only – well, either that or they were buttering me up and saying it was okay [laughter]. Maybe they don’t like to tell me [laughter].

 

Well, there is that problem, I suppose, isn’t there?

 

I think, in fact in the information you’re given - I mean, basically all the information, and the samples and things, that are being collated are not relevant to your clinical condition per se, but if something leaps out as being, you know, a problem then they would feed back to the clinical side, and you know, sort things out. So I think yes, if they discovered that my cognitive function was, was really declining, then it wouldn’t just be a question of being recorded in a tick box. They would contact the relevant person to take treatment, you know, further forward on that.

 

I suppose cognitive function is quite a tricky one, in a way, isn’t it? Because it might be something that some people would prefer not to know about if they uncover deteriorating function?

 

Yes, I don’t - I do know that, I mean, there’s been quite a lot of research now that suggests that there’s more cognitive change in MND than was previously thought, but I do also have concerns from both sides that for the vast majority of people it’s actually quite mild. And it worries me that people can be labelled as, you know, cognitively impaired, that it then goes back to health care professionals maybe who are dealing with, I don’t know, making decisions on end of life care or whatever, that they actually take too much credence in that, and you suddenly find that, I don’t know, the social worker isn’t going to take your word for what you want to do because you’re cognitively impaired. And I think it’s very important to keep it in the right frame, because there’s one thing to have fronto temporal dementia in MND, which is very serious, and another thing to have a bit of cognitive impairment that actually still isn’t going to affect you on a day-to-day basis - not in a, not in a significant manner - that you’re still very capable of making all the big decisions that you need to make. And that does worry me because it’s something that is being broadcast quite a lot at the moment, that, you know, it’s something that’s been found in MND and are we placing almost too much stress on it?

 

Interesting, because one of the things that they say is a component of it is losing the ability to forward plan, isn’t it?

 

Yes.

 

And I can exactly see that kind of scenario where somebody might think, “Well, we’ll disregard your advance directive.”

 

Absolutely, because you’re not in a reasonable state to make it.

 

And I think you’ve got to be very careful about the degree of cognitive impairment, because otherwise I think you’ll be penalising people rather unfairly.

Jean felt the only "proactive thing" she could do when she was diagnosed with Motor Neurone...

Well, I was thinking that maybe the place to start would be that when I was diagnosed with MND that I found having a chronic disease that was completely, there was no treatment for, it was incurable, a terminal condition, very strange, because I’d been an acute physician and I was used to being able to deal with things, which - one always hoped for a positive outcome, and obviously not everything in medicine is positive, but you can do something about it. And so the thought of just sitting, waiting for the disease to take over seemed very alien. And so I thought the only proactive thing that I could do about the disease was maybe to take part in any research. I did discover that because my variant, which is progressive muscular atrophy, is rare, that actually my usefulness in research was pretty limited, and the majority of trials, for example, that occur, not very frequently but if they do have a drug, then they generally do not go for the rarer variants, because they’re trying to find a speedy result, really.

Jean said that, while your individual contribution might not change the world, you feel part of something very positive.

I would say that if you’re thinking about doing research then go for it, because actually it’s a very positive experience. It’s, it’s quite interesting. I think it’s this engagement – well, certainly with the study you’re giving up quite a bit of your time - but you’ve got this sort of two-way flow between you and the researchers, which is a very sort of positive experience, and I think there’s a great deal of satisfaction in feeling that you’re actually contributing towards something that might make a difference. And the other thing, I think, is not to have sort of too many expectations that what you’re taking part in is going to sort of change the world. It’s maybe a small piece of the jigsaw, but I would rather be a small part of the jigsaw than be sort of still looking at the box and not opening it. So very positive, I think, and take part.

After giving their time and possibly having invasive procedures for research, Jean feels participants should be given feedback. People are sensible enough to know that research findings are not always positive.

I think generally, I mean in the sort of bits and pieces of research that I’ve done, participated in, everybody has been very welcoming and accommodating and, you know they sort of go out of their way to make you feel, I suppose, comfortable. If I would have had a point to make, and I think it is on the feedback, because it certainly happened to me. It was a, I just took part in a short sort of survey study and somebody was doing it for their PhD, and yes, they would communicate by e-mail, and yes, they would sort of say what the results were - and I never heard anything. And I was fortunate, I actually was able to sort of find out indirectly what the results were. But I do think it is a courtesy, and I think if you’re asking people to give of their time, effort and in some cases sort of body samples and invasive procedures they have to undergo, then I think all they’re asking for in return is a little bit of feedback as to what the outcome was. And as I say, I don’t think any of us really worry about - we’d love every study we took part in to have a positive result - but I think most people are very sensible, and they realise that, you know, a negative study actually can be as important as, as a positive one. But it would be nice to know.

Jean thinks people should be aware of how much time may be involved in taking part in research.

So I thought I’d volunteer and I found it quite an interesting experience. It’s, I think one’s got to be well aware of the time element - I don’t mean in terms of the number of visits per se, I mean it’s twice a year - but you’ve got to be prepared to give up, you know, five hours plus to get through all the tests that are needed, and I knew that as somebody with slowly progressive MND then I was probably better placed than many to be able to cope with that.

Jean describes the lumbar puncture as weird but not unpleasant. She says the worst part of it is the cold disinfectant on your back because the anaesthetic ensures you feel no pain.

And then it’s, then you go up to the neurology ward. Where you’ve been in the scanning unit for most of the time before that, then you go up to the neurology ward to have a lumbar puncture. It is not compulsory to have a lumbar puncture and they make that very clear, and also the fact that you agree to it one time means there’s no compunction on you to do it again. If you want to opt out you can do so, and there really is no pressure whatsoever. But for me it, it’s not a worrisome experience at all. It’s a question of sort of lying fairly still and as curled up as one can manage for a few minutes, and I think the worst bit is probably the cold disinfectant on your back, really.

 

A very tiny, tiny injection of local anaesthetic, and to be honest I’ve always been one who once the local anaesthetic’s working it’s fine, it really is. And it’s the same if I go to the dentist. I’m not, you know, once an injection’s working they can do what they like, really. Just so long as I know that everything’s nice and numb, that’s fine. And it’s just this sort of feeling of a bit of prodding in your back, really, which is not - it’s weird, but it’s not unpleasant, and I don’t, I personally don’t find it a difficult process at all. But I do know that for some people it’s a step too far, and the great thing about it is that the researchers know that and they really do not put any pressure. In fact there’s more pressure sort of, you know, or more facility for you to opt out than opt in.