It was necessary to look further afield than Greater Manchester to fulfil the recruitment targets, and people with ataxia living in Blackpool, Preston and Cheshire were also included. Thirty people were identified on Ataxia UK's membership lists, of whom 11 (37%) agreed to participate. Eight (53% of 15 invited to take part) were recruited via a department of Clinical Genetics and a further 8 via a Neurology department. Eleven people were recruited in person by the first author at local branch meetings of Ataxia UK. The latter two groups may have included people already invited to take part by other means. People were generally keen to take part as ataxia is a rare condition. Many expressed the wish to help others with ataxia in the future. Only two people preferred not to have the interview tape recorded, which was surprising given that many had disordered speech. Interviews lasted for an average of 44 min.
Those interviewed occupied a wide spectrum of disability and disease onset (results not shown). Demographic and diagnostic characteristics are detailed in Table 1. The time since the interviewees had received a diagnosis ranged from 1 to 38 years (median 5.5 years). There was a wide variation in informants' responses. Attempts were made to undertake sub-group analyses, for example, idiopathic vs. definitive diagnoses and those who had been diagnosed at different points in time.
The experience of symptoms and help-seeking
As in rheumatoid arthritis, the focus of Bury's work, the initial onset of ataxic symptoms was usually described as a slow, insidious process, with initial ‘trips' or falls put down to accident, clumsiness or drunkenness. The main problems described were disabilities of balance, walking or speech. One-third also reported other symptoms, including dizziness, migraines, fatigue, arthritis, circulatory diseases, diabetes, incontinence and depression. When people were asked to describe their symptoms and the effect of these symptoms on their lives, they commonly spoke about the stigmatising effects of a disease where they could be accused of being drunk:
Interviewee: … when I first got this and my speech sounded like I was drunk, when I answered the phone some people more or less put the phone down because it sounded like a drunkard. So now we've got this answering machine and it will ring and whoever it is will, say it's, like the father-in-law or the kids, then we'll answer it, but if it's someone that I do not know I'll just let them leave a message and get back to them. (Male, 50, SCA 8 diagnosis).
As a result of mobility issues and a fear of accusations of drunkenness, several people reported largely staying in their own homes. Others were still in employment and had added uncertainties about when they would be forced to leave work. Some had lost their jobs because of their ataxia and struggled financially. These issues were exacerbated by having a rare disease, not always identified in insurance policies or the medical retirement component of pension schemes. The length of time taken to get a diagnosis in ataxia compounded these problems further, especially in relation to obtaining invalidity, incapacity and disability benefits. Against this background, interviewees reported having engaged with the health system in an attempt to ascertain what was wrong and what could be done to treat it. Here follows a typical description of the beginnings of a diagnostic journey:
Interviewee: Then one year I went on holiday with my mum and dad as a family and they noticed my walking was terrible … So when we got home my mum and dad made me go to the doctors and then he thought it was in my mind. I was only sixteen; he thought it was all in my mind.
Interviewer: Was this a GP?
Interviewee: Yes it was … Mum and dad weren't happy at all, so we went back and said, ‘No, there's something not right.’ So he did a few little tests on me, then and there in the GP's office. Then sent me straight away then to the hospital. … Then I was in for about a week.
Interviewer: What, as an in-patient?
Interviewee: Yeah. And he did lots of tests. But after all the tests I had, he wasn't sure what it was. (Female, 41, FA diagnosis)
In contrast to patients' expectations that a cause and treatment plan would be identified in relation to their symptoms, their experience was more usually of being told that they had a rare and untreatable disease; that they should ‘go away and live with it’. Whilst there was some evidence that people diagnosed more recently had fared better in services, the issue was by no means clear cut as whereas some people had spent many years pursuing a detailed diagnosis, others were not as concerned to determine a definitive cause for their symptoms.
As in a previous qualitative study that used internet data, many interviewees seemed to reflect that an idiopathic designation had not stemmed the uncertainties they faced about their illness:
Interviewer: Does the ‘idiopathic’ label kind of annoy you?
Interviewee: It does yeah. I'd like them to identify what I've got because every time we go to the consultant I get blood tests and, you know, my blood is on file and apparently they keep testing it. But I just want answers, I just want to know, ‘Do you know what type I've got? Do you know if it's going to get worse?’ (Female, 32, idiopathic ataxia diagnosis).
Interviewees valued demonstrable clinical expertise in ataxia and praised clinicians who had been able to identify ‘ataxia’ when others had not. However, the more common experience related by most was of neurologists who ‘don't know enough’. It was recognized by some interviewees that not all neurologists can be expected to know about ataxia, especially given its status as a rare disease. However, this insight did not help them in the face of clinical uncertainty. A common complaint of those who had undergone prolonged periods of diagnostic testing was that neurologists were not giving patients enough information about what they were doing nor what they were looking for: ‘I asked, “What do you think it is?” to the junior doctor that I spoke to, and he was like, “Well it could be a number of things, but we are excluding them.”’ (Male, 26, FA diagnosis). Tests were sometimes not followed by any results, with the patient seemingly left in a sort of anxiety-ridden diagnostic ‘limbo land’. Their prior assumptions that clinical tests would lead down a road towards clinical and existential certainty were shattered.
The main criticism of neurologists that they ‘did not know enough’ remained even when patients had consulted someone they perceived to be a specialist in ataxia. This suggests that it was in some cases the ‘ataxia’ that was the real problem and the lack of progress in medical advances, rather than the clinicians who could or could not diagnose it. People commonly made remarks along the lines of, ‘Nobody knows about it and there is no cure’: ‘I thought “Oh great, medical science, we can tell you what's wrong, but we can't fix it”’ (Female, 61, idiopathic ataxia diagnosis). As another interviewee put it, ‘That's all you get, “We don't know, we don't know, we don't know”’ (Male, 65, late onset ataxia diagnosis). Another recalled their neurologist telling them, ‘You have got ataxia but we don't know how or why, obviously, but that is what it is’ (Male, 64, idiopathic ataxia diagnosis).
A small number of those interviewed had been recently diagnosed with ‘ataxia’, and it was evident in their accounts that they expected that more information, such as the SCA ‘type’ would follow: ‘The neurologist… he said it's probably ataxia. We're just waiting now to find out what strength’ (Male, 40, SCA7 diagnosis). One interviewee had received an ‘ataxia’ diagnosis only days before being interviewed, and he was most unusual in remarking, ‘I've had a diagnosis, but nobody's prescribed treatment as of yet. .. basically waiting and see what happens’ (Male, 56, ataxia and multi-system atrophy). Following from the discussion above, the perceptions of this newly diagnosed respondent would suggest that he, as yet, had some way to go before confronting the limits of medicine.
Prognostic uncertainties: Existential and clinical
Many interviewees sought a definitive or ‘specific’ diagnosis to get a better idea of how fast their disease would progress and how their lives would be affected. However, in this study, only three of the respondents who had been given a definitive diagnosis (21% of 14) seemingly reported any benefit from it. One, a young man who had been diagnosed with FA, said, ‘Now I know what's wrong, the relief that I do feel is immense because I can put a name to it and fight it’ (Male, 26). This finding echoes those of other studies of rare diseases or hard to treat illnesses. For another person eventually found to have FA, the diagnosis was not perceived as helpful, seemingly because they did not understand the implications:
Interviewer: When [the neurologist] told you that you had [FA], was it a relief to finally know what you had?
Interviewee: It didn't really mean anything [Interviewer], if I'm truthful. It didn't make me sit up and think, ‘Oh blimey,’ because I'd been told it was a different name, that's all. Because as far as I knew up to then my condition, which I used to tell people, was scoliosis and then it changed to [FA] (Male, 58).
Some respondents had made deliberate efforts to pursue exhaustive diagnostic testing to remove uncertainties about causation and prognosis. However, when this existential uncertainty met the sorts of clinical uncertainty outlined in the preceding section, it was unclear whether the individual was better or worse off following investigation:
Interviewee: … it was really just for peace of mind for myself to try and investigate and try and pinpoint what was the actual cause. If I had been born with it, you know, if they could tell me a little bit more, but they couldn't. … And they told me because they think I was born with it, the chances are that I won't become wheelchair bound until another twenty years time. But they can't say for certain because they don't know what is the true cause. (Female, 40, assumed inherited ataxia, unconfirmed by genetic testing).
For the respondent above, the unknowns related to her condition were described as ‘scary.’ However, as indicated above, it should be stressed that these uncertainties remained even when people had a definitive diagnosis: ‘What's to come? I had absolutely no idea. I still don't know’ (Male 26, FA diagnosis). Later in the interview, he said, ‘To be hit with this, I think, “I don't know what's coming. I don't know what tomorrow is going to bring.”’ Following Bury, this seems to suggest a form of biographical uncertainty, as if the person with ataxia has come to embody the sorts of prognostic doubts harboured in relation to their illness. For ill people living with lesser degrees of uncertainty, such as those recovering from stroke, a construction of ‘the future,’ tied to concerns around ‘healthy ageing’ has been described with reference to biographical illness narratives. However, illness narratives tied to notions of recovery are problematic in the context of progressive ataxias, which are usually incurable.
One respondent, who was unusual in that she had been given a diagnosis of ‘cerebellar degeneration’, as opposed to ataxia, alleged that her neurologist had told her that she had 4 years to live when the diagnosis was made. In light of this information, when she was still alive 4 years later, she used the information given at the time of diagnosis to bolster her theory that the lack of disease progression was a result of a trip to China for expensive and untested stem cell therapy treatment (Female, 77, cerebellar degeneration diagnosis).
Whilst it was difficult to disentangle the precise relationship between clinical and existential uncertainties, it was clear that each seemingly magnified the other. A possible downside of diagnostic labelling is that it may lead to a form of symptom amplification. In our study, this was particularly evident in the case of a woman in her 70s, who only found out that she might have ataxia as result of extensive investigations in her son. For most of her life, she thought she had vertigo and treated her symptoms accordingly:
Interviewee's partner: Since [our son] has been diagnosed, we've all been more focused on the symptoms you've been having. Before, we just ignored them.
Interviewee: Before I just thought it was me, you know, I get tired, I get dizzy.
Interviewee's partner: So in effect we feel they have been worse since [our son was diagnosed], because things that would have been shrugged off before, we now attribute to ataxia. (Female, 76, previously thought she had vertigo).
This passage highlights that a diagnosis can have negative and positive aspects. It has already been stressed that an idiopathic designation is a ‘downside’ as it offers no certainties as regards disease prognosis. A definitive diagnosis may also be of little use if it does not provide certain information regarding disease progression or, in very limited circumstances in the progressive ataxias, a cure. Thus, the young man with FA introduced at the start of this section commented that he was glad that he was not diagnosed earlier in life, and had not had to live with the (uncertain) knowledge of how his symptoms might progress (Male, 26). Clinical and existential uncertainties in relation to disease progression are thus inextricably linked: ‘Obviously you're going to worry and you don't know where it's going to because they can't tell you what you've got’ (Female, 32, idiopathic ataxia diagnosis).
One person, unlike the others, did not voice uncertainties about his future, and although he did not know the exact aetiology of his illness, he had chosen not to pursue diagnostic testing. Although confined to a wheelchair, he spoke about what he could do rather than what he could not. With a specially adapted hand-operated wheelchair he was able, and made a point, of going out every day. In his own words, ‘I'm just of the mind, just get on with living and just, you know, whatever it does it does, just carry on.’ In his 40s at the time of the interview, he had undergone 5 years of medical investigation into his ataxia as a teenager, largely at his parents’ insistence. However, as an adult, he had chosen not to pursue testing, because, as he said, ‘I'm not a hunter, I'm not a digger’. He contrasted his approach with that of others with ataxia who had pursued diagnostic testing without a satisfactory result. He described their tenacity in this regard as, ‘A little sad actually’. He suggested that his approach stemmed from having ‘sorted everything out’ in his mind. His account seems to echo the notion of ‘biographical repair’.
Views of available services
It was clear in accounts of the use of healthcare resources, mainly from accessing the UK National Health Service (NHS), by people with ataxia, that some of the problems they had faced were not ataxia specific, but reflected more general structural and budgetary constraints. On occasions, it was clear that these sorts of structural constraints had been magnified by the fact that they had an incurable and difficult-to-diagnose condition. However, at other times, it seemed as though their criticisms of health services could have just as easily been made by people with any medical or disabling condition. This point was best exemplified by the following interviewee:
Interviewee: I don't, nothing that was bad, you know what I mean? It was just the NHS. Sitting in the waiting room for 3 h every week. That was about it. You couldn't do anything about that, the amount of doctors to patients. I understand it, I'm not going to get angry about it and have a go at people, because it's noone's fault (Male, 22, FA diagnosis).
A commonly reported response was that at the time of diagnosis, patients were told that there was no cure for their ataxia and they should go away and ‘get on with it’. Some of those interviewed said that they respected this apparently brutal honesty on the part of neurologists. However, others were extremely dissatisfied with what they saw as ‘negativity’ on the part of consultants who were not able to offer them hope that there was some treatment or therapy that might arrest progression. In a particularly succinct comment on the limits of medical knowledge, one interviewee said, ‘They're not interested if they can't help’ (Female, 60, idiopathic ataxia diagnosis). The implication here is that if there is no cure, then there can be no role for medicine. However, the idea that nothing can be done, seemingly created problems when some neurologists recommended that their patients attend for regular follow-up or monitoring of their symptoms:
Interviewee: [The neurologist] said, ‘See you in a year’. I said, ‘Well what's the point?’ I said, ‘I don't see the point because there is nothing you can do for me, so why don't we just call it a bloody day?’ (Male, 65, late onset ataxia diagnosis)
By extension, the above interviewee and others questioned the point of attending specialist ataxia centres when there were no treatments available. As another person put it when asked whether they would consider travelling to attend one of the specialist ataxia centres in London, Oxford or Sheffield, ‘Yes, I'd go but it would seem like a waste of time’ (Male, 67, late onset ataxia diagnosis). Two respondents had attended a specialist ataxia centre and whilst one (with FA) seemed extremely satisfied and was continuing to travel to attend the centre for follow-up, the other (with an idiopathic diagnosis) had stopped going as they did not perceive that there was anything the specialist centre could offer above and beyond a local neurologist.
Whilst some interviewees saw no benefit in follow-up on the basis that there was no cure for ataxia, others reported a perceived ‘uselessness’ to these visits on the basis of what happened during the appointment itself:
Interviewee: … I go approximately once a year.
Interviewer: Okay. And what happens at those appointments?
Interviewee: Have a word with me and come home. Nothing.
… [Later, during the same interview]
Interviewer: … You don't seem to think that visit is useful for you?
Interviewee: Well you don't get told anything, they don't do anything and nothing changes. (Male, 67, SCA7 diagnosis)
A minority of respondents would rather have valued ongoing monitoring or follow-up by their neurologist, but were seemingly not offered such appointments.
For a minority of interviewees, waiting for the results of tests was a cause of anxiety. For one interviewee, the worst thing about services, when asked, was waiting for test results. Later in the interview, she added: ‘I keep thinking, ‘Oh it must be bad news that he's left it so long [to get back to me with the test results]’ ‘(Female, 55, late onset ataxia diagnosis). Later in the same interview, she said, ‘I suppose it is up to me to ask questions, how much I want to know about this thing’. Once again, this seems to highlight the status of patients as medical consumers who are supposed to proactively fight for information, care and healthcare resources.
The ‘proactive medical consumer’ is predominantly associated with privatized health systems. However, in this study focused on the NHS, interviewees' responses pointed to a similar model, tied to the idea that healthcare resources are finite and limited. One of the respondents who said that the best things that they had received from health services was a walking stick, added that they had asked for it themselves (Male, 65, late onset ataxia diagnosis). When asked how to improve services for people with ataxia, one person was initially unsure about how to answer, and then said, ‘Am I just waiting for people or am I doing anything myself about it?’ (Male, 58, FA diagnosis). The manner in which patients were sometimes seen to be the ‘drivers’ of their own care is best exemplified in the following interview extract:
Interviewee: The doctor said, ‘I can put you on something to calm you down.’ I thought, ‘I don't want medication to calm me down’. But I could really do with some sort of, someone to talk to more about it who knows about it. Instead of just going to the hospital and them saying, ‘There's nothing we can do’. Well, I have read that you can have physiotherapy.' [Why don't they say] ‘We can maybe do that for you’? (Female, 41, assumed inherited ataxia, unconfirmed by genetic test).
During the interviews, respondents who had used health services were specifically asked to name the ‘best’ thing they had received (Table 2). It was striking that one-third could not name anything and one-quarter named a service or disability aid received from social services rather than the health service.
Table 2. ‘What is the best thing you have received from the health service?’ (n = 30)
|Care at the eye hospital||1|
|Counselling from my GP||1|
|Getting the ataxia diagnosis||1|
|Home visits from therapists||1|
|Physiotherapy and occupational therapy||1|
|Speech and language therapy||2|
|Total NHS Services mentioned||11 (36.7%)|
|Equipment from Social Services||1|
|Grab bars around the home||1|
|Total social services/Disability aids mentioned||8 (26.7%)|