Respondents primarily reflected on the value of a diagnosis at a personal level. A diagnosis was considered important to know the cause of complaints and adapt future plans to the prospect of disease-development. This line of thinking was pursued when considering the value of the future possibility of a presymptomatic diagnosis.
Knowing the cause of complaints
Having a diagnosis is considered valuable to get more clarity and certainty about the cause of complains. This view, which we encounted in the various focus groups, is well captured in the following quote from a woman who explains the value of a diagnosis for her:
Well, yes, then you understand why you forget things or fail to understand.
(people with dementia)
Respondents furthermore appreciate biomarkers as a way to distinguish between different causes of complaints; such as, to separate between dementia and a burnout, or to distinguish the type of stroke, either an infarct (caused by a blood clot for which antithrombotic treatment should be given) and a cerebral hemorrhage (caused by rupture of blood vessel in which case antithrombotic treatment should be avoided).
… I would say that it can probably help to have something that indicates quicker that it is not a burnout. We took measures, all kind of measures to diminish stress … but the complaints didn’t go away, for it wasn’t a burnout. (partners)
… I had a major cerebral hemorrhage (..) The doctor immediately gave blood thinners. But afterwards we found out…in me the blood flow is too good. The blood thinners were dangerous for me… (intracerebral hemorrhage)
Values such as knowledge and control were considered important in this respect, as acquiring appropriate knowledge about the causes of complaints is considered important to tailor an appropriate response to the disease and to obtain some measure of control.
Adapting one’s life
Obtaining a diagnosis also marks the beginning of a process in which people have to adapt their life-plans and integrate the diagnosis into their self-perception and expectation for the future. This is often a process that is characterized by dealing with emotions such as anger and fear. The following quote provides an example:
…The diagnosis spoiled my life for a large part…My fear…My fear [is] that my life will end as my sister’s did. [the sister also had dementia] (people with dementia)
Values such as acceptance, finding joy in things one can still do, trust and (religious) faith, play a prominent role in how participants think they should deal with the diagnosis. But doing this is often considered difficult:
It [the diagnosis] is not something that makes you happy, but if you come as far as to accept and say ‘I’m going to try to make the best of it’ then you can give it a positive side. Well, that’s what I try at least. (people with dementia)
Some fear, yes yes…I think it is a kind of process. For me it lasted a year until I could give it a place [in my life]… I was very down for quite a while, but because of my trust and faith I came out of it. That is something I would like to give to everyone, but I can’t. It is something you can live with, I am personally convinced of that. Enjoying the day… I am not a special human being: everyone can do that. You just have to accept that you have something that won’t go away … (HCHWA-D)
Timing of the diagnosis
Participants predominantly reject presymptomatic diagnostics because (a) there is no appropriate therapeutic response available, and (b) it is not desirable to adapt one’s personal life prior to the experience of complaints. This is illustrated by the following quotes:
No. What can you do with it? You can do nothing with it. There is no cure… nothing… (people with dementia)
If you know early that you are developing CAA, you could organize your life around it… That seems undesirable, for it could mean that you close off your life before it is time… (partners)
Furthermore, some participants mention that obtaining a diagnosis presymptomatically might cause useless fear:
… how can you say you know what will happen? You can die of another disease… you are made scared of dementia and you die of cancer. Yes… that can happen, right? (people with dementia)
In the HCHWA-D focusgroup participants reflected extensively on the value of presymptomatic diagnoses, as they had experience with it in their own lives. The value of an open future played a prominent role in their reflection:
…it robs you of your careless attitude towards the future … and that should not be the case when you’re twenty. (HCHWA-D)
The HCHWA-D patients argued that one should not adapt one’s life-plans to the disease too early in life, because it can influence decisions about life such as forming relationships, having children, or choosing a profession. It is for this reason that participants advised their children not to do it too early. In their own lives, however, some participants considered it important to have the presymptomatic diagnosis, as it helped them cope with the stress they experienced living in a family with HCHWA-D.
I am of the category, I am happy I had myself tested… I was already restless because it is in the family. And in this way [with the test] you at least have the possibility to rule it out. … So I said: I can rule it out if I don’t have it, and if the message goes in the other direction than that is a pity. But I cannot say that it makes me more stressed now that I know. I could not live very well with the uncertainty... (HCHWA-D)
Participants in the HCHWA-D group would not promote a presymptomatic diagnosis for people who do not have CAA in their families. Even within their own group they observe that the choice to be tested is highly personal, and they see less reason to test members of the healthy population.
… we have the inheritable form and even in our community people relate to it [the testing] differently. Sometimes even in the same family some people know, and others don’t. It is a sensitive matter… So, it is questionable whether you should tell people who have nothing in their families … who have no bleedings [intracerebral hemorrhages] and who do not have any cognitive problems. I think that is quite something…I think you shouldn’t do it. (HCHWA-D)
Relationships with relatives and friends
Our respondents made clear that obtaining a diagnosis marks the beginning of a process of change in relationships with relatives and friends. This comes forwards in their communication habits, the responsibilities they adopt towards each other and in their shared future planning and—for some—in their reflection about end of life decisions. Here we will focus on the last two aspects.
Once someone has dementia complaints, the division of tasks in the household often have to be revised. Participants in our focusgroups told many stories about how the adjustment of mutual responsibilities can go wrong, which is often blamed on a tendency to deny the diagnosis on the part of the patients:
He denied it [the disease] for a long time. It is only since a few months that he will tell people at our farm, the veterinarian for example: would you write that down for me, for I cannot remember things very well anymore. Now that is since three, four, five months, although we know for sure what is wrong with his memory since eight years! (partners)
Others told stories about a relative’s denial of the decline of their capacities:
… and I told him [father] that I would not allow him to take my children in the car anymore. It was dangerous, really…but he once took them without telling me. I was furious… and he would say: I know what I am doing… I know it is hard to accept that you can’t do things you used to do… But, boy, I was so afraid… in the end I only brought my children over when my mother was around. (HCHWA-D)
Patients, on the other hand, provide insight into their perspective to the matter, sometimes understanding very clearly that they are not able to live up to the expectations of their loved ones:
…I keep fighting until I can repair my relationship, for it is fragile right now as my wife thinks I have changed. I can understand that. I have become very passive… in everything really, you know. I lack initiative. I sit quietly in a chair at home and have nothing to do. I don’t mind that at all. And the whole room is full of dishes that need to be washed and my wife says: what do you think of that? Oh yes, that needs to be done…Nothing comes from me. I sit and I think it is OK. I don’t feel I miss anything either, you know. … Now sometimes she makes lists of things I should do that day. I don’t mind that. I do it all. (intracerebral hemorrhage)
Others tell that they think their relatives are too pushy to take over responsibilities, too patronizing, which is experienced as stressful:
…They walk in like… I have this and that for you… I have lived alone for many years and do everything myself. They took my car at a certain moment and, no…I’d rather have that they didn’t know I have dementia. (people with dementia)
Stories such as these reveal a struggle between family members to find a new balance in their mutual division of responsibilities. In some cases participants also tell stories about situations in which they experience this balance:
I used to cook quite well. Sometimes I cooked for many people. That was no problem for me. I just did it liked this [she makes a juggling movement]. But now I can’t do that anymore. Now my husband does the cooking. And I help. I cut something, for example…it is nice to stand in the kitchen together. (intracerebral hemorrhage)
Planning the future
Patients as well as partners and healthy people mention valuing a diagnosis in order to be able to organize the right professional and informal care for the future. Sometimes, patients anticipate needing care themselves:
We arrived at a point where we wanted to change our life, so we decided not to have a big garden, big house, and to move to a place not too far from our family. A little more centralized and we did that because there is indication that I have Alzheimer. (people with dementia)
Sometimes people anticipate needing care themselves, but also consider the needs of their relatives:
I think I will be all right in a nursing home and that my family should be able to live their own lives. … They didn’t choose this and my husband did not choose me knowing that I have this disease and if I myself would have known I had the disease then I probably would not have a relationship at all… I don’t know. (HCHWA-D)
Healthy elderly people and partners talk about providing care, but patients also often talk about themselves as people who care for their relatives; for example, by leaving them free to live their life, or trying to prepare everything as well as possible in case their capacities decline or they die:
I don’t know of course how this will continue…the development of my disease is unknown, for I don’t know when … when I will get a bleeding [intracerebral hemorrhage] again. But I want to leave things behind in a good way. … So I prepare everything. I organize my administration, so that my wife knows where she can find it …she will have enough on her mind… (intracerebral hemorrhage)
Organizing care facilities for the diseased in such a way that family members will be able to continue living as good as possible is a recurrent theme in all of the focusgroups. Obtaining a diagnosis is important for it marks the beginning of preparatory activities to care well for each other. Obtaining a diagnosis too early is not appreciated in this respect, for it would urge people to take preparatory measures at a moment when this is not yet necessary.
Timing of end of life decisions
Having a diagnosis early (presymptomatically), or being able to monitor the stage of development of the disease, is appreciated by some respondents, as it informs decisions about the best time to ask for euthanasia. As euthanasia is an accepted practice in the Netherlands, some patients reflected on the difficulty of picking the right time for it. This can be problematic for people with declining cognitive capacities, for the Dutch law requires patients who request euthanasia to be able to make an autonomous decision. The participant we interviewed anticipated that a presymptomatic diagnosis, or a tool that could monitor the progression of the disease prior to experiencing its symptoms, could help to make the decision at the right time:
I do not want to come so far as I don’t…don’t know what I do anymore… that my wife has to take me to a nursing home, for example. I had a beautiful life and I don’t want… don’t want to end up all strange. I talked about it [euthanasia] with my family doctor… a few times already, but she doesn’t want…yes, what is the right time? I want to prevent that I deteriorate and can’t ask for it anymore. So if there would be a way to see how far I am in the disease, this would be helpful for that, yes. (intracerebral hemorrhage, interview)
In the HCHWA-D focusgroup choosing the right time to graciously close off life was also a recurrent theme, although euthanasia was not mentioned. Some of the participants had themselves tested and know they have inherited the genetic variant that causes the disease. During the focusgroups they expressed that they go through periods of extreme stress when relatives suddenly die or rapidly develop cognitive deterioration. Stress causes sometimes complaints very similar to dementia, which causes even more worries. It is for this reason that they would value having a more objective instrument that can tell them the cause of their complaints, like a monitoring tool that can tell them how far the disease has progressed and allows them to take measures in time.
… now it is common in the hospital to say ‘you have the gene but we cannot do anything with it, so please come back some time.’ Now I think that for some people, that is fine, but if you…I experienced that I started misunderstanding things…like I was already in the middle of the disease process… while I was actually suffering a burn-out… and then you don’t know how to understand it. Then I found it very important to be monitored in order to know: should I be concerned, should I take measures? … I am a psychiatrist in a practice… If I know that I am far in the process, then I would stop. (HCHWA-D)
In the lives of people with HCHWA-D having a way of monitoring their disease progression allows them to act responsibly and not engage in work that they can no longer do. Another reason for patients with HCHWA-D to want to use biomarker information for monitoring is that this would allow medical specialists to tell them when their condition is deteriorating, rather than burdening their own family with it.
Imagine you are more affected than you yourself think… It can happen that you don’t see things yourself. I, for example, told my husband that if I start doing strange things, I want you to tell me. You also see it in the patient association: some people—if I may say so—have a high opinion of themselves. Then it is valuable to have something objective … In a relationship you spare each other … For that reason I would value having an objective measure that can tell me: how am I doing? (HCHWA-D)
Participants in all other focusgroups were however not so much interested in a monitoring function of the biomarker-detection method. To some it was considered a frightening option to be able to follow your own degeneration, while not being able to stop it. The chance to make informed choices about when to stop working or start to close off life does not figure in all participant’s minds, and some consider it a frightening combination with euthanasia as they think presymptomatic diagnostics might lead to even less societal acceptance of dementia and an implicit societal push to choose euthanasia.
Woman: I think you will get more euthanasia. [when you get a diagnosis early. SvdB]
Researcher: more euthanasia?
Woman: Yes, more euthanasia.
Researcher: Why more euthanasia?
Woman: The word dementia means clean up and put in the corner. (people with dementia)
I would probably choose euthanasia myself… I don’t know. But I also think… well…if you live in a country where euthanasia is allowed, and you give people information that they have dementia early on… well what can you do with that information? I’m afraid people will probably think they have to choose euthanasia, as if it is the only reason… why they get this information. I think that would be wrong. People should not feel they have to do something like that. (partners)
Participants also reflected on the value of biomarker diagnostics for society. The issue they chose to talk about most was the issue concerning what society should primarily invest in: (1) in the provision of good care for people; or (2) into the development of medication. Sometimes the respondents looked at this issue as if it asked for an evaluation of science itself, which they valued for the sake of itself:
I am in favour of science. Period. Yes, I am like that. I am a curious person. (Interview patient with intracerebral hemorrhage)
But many participants reflected more specifically on the kinds of benefits they expected from scientific research, and how they would be able to use that to care for people. They consider it beneficial, for example, to have more information about the disease, including its various complaints and stages. This allows people to prepare, as they know better what to expect:
(..) it [science] allows to observe the development of the disease …This helps to understand the disease and tell people about it when they get it. (healthy elderly people)
Or some actually looked at the value of follow-up research into the effectiveness of medication, which makes patients and their care-givers less helpless. For this purpose, some consider it valuable to do research on people, even if they do not yet have symptoms. That may help to prevent irreversible damage from occurring:
I think that if you do research in people who do not have symptoms yet, who stand at the beginning [of the disease], then maybe it is possible to develop medicine… Because now…when someone has it…it is actually already too late. (partners)
A medicine, that’s what we hope for. Then you can precede such a bleeding [an intracerebral hemorrhage] and prevent damage. (intracerebral hemorrhage)
For the HCHWA-D group, the focus on research is especially important, as they contribute in that way to the health of future patients, including their own children. Participants in this group that is marked by a family history of disease, find it important to take part in research to be able to care for the future health of their children:
Research is very important and you can perceive in our group that people are willing to do a lot to realize that. Because we all want research to go fast for our offspring, so yes, research is important in our group … for our children, our grandchildren. (HCHWA-D)
All of these remarks reveal that participants think that more knowledge and medication will help to care better for future patients. But not all participants agree with this. Some participants expressed a basic feeling of distrust towards science and scientists:
For whom are scientists working? I don’t know, I am probably seeing things too negative. But it is their work and they can obtain high prestige, they can earn money. Are they concerned with us, with patients and their families? I do not think so. (partners)
Other participants perceived a distinction between the search for cure and care. They thought that more money should be spent on caring for the people with dementia in society, rather than spending it on finding innovative medication. They were not convinced that knowledge would eventually lead to more care, and expect more from general supportive activities for patients.
I am quite skeptic… searching for medication… I also see good results when there is good support and accompaniment … then there is a lot less risk ... I think there should be much more attention for what you can do with good care. Society does not sufficiently recognize this. (healthy elderly people)
I know that it can have an enormous impact on your life when you become the guardian of your father or mother. We became ill ourselves, my brother and I. I think this is not good. It is not good that in the Netherlands we now burden informal care-givers even more. I think, come on boys in the government, please work behind that front door for a while and then you will talk differently. It is really important to give care-givers some air, to let them live a little bit… (healthy elderly people)
Pondering on whether societal money should be spent on science or on better caring facilities, especially the groups with healthy elderly people and the partners reflected on the appropriate attitude that should be adopted and fostered towards diseases of old age in society:
… I think, how should I say this, yes you can spend a lot of money to get to know everything, but the question is whether … that is worthwhile… You have to accept that there are things in life that happen and that you cannot influence. Let’s just put it like that. (partners)
In all of these answers, care seems to play a prominent role. Advancing knowledge is valued by some participants in our focusgroups as a way to strengthen capacities to care for patients. But other participants value acceptance of the limitations of life and think this is a lesson to learn for society at large. They think society should not understand the degeneration of capacities towards the end of life as signs of disease that can be cured, but as part of the natural life cycle. Seeing it like this would make caring for people with dementia a more natural part of everyday life, and would help to see the need to develop caring capacities. If dementia is seen as an anomaly that demands to be ‘fixed’ with medicine, this does not inspire to train caring capacities which are needed when people grow old.