Overcoming therapeutic nihilism. Breaking bad news of amyotrophic lateral sclerosis—a patient-centred perspective in rare diseases

Amyotrophic lateral sclerosis (ALS), known also as Charcot or Lou Gehrig disease, is a fatal neurodegenerative disease that affects both central and peripheral neurons, leading to progressive paralysis. ALS is a rare disease [1]. In most cases (90%), it manifests itself sporadically without any known cause [2].

Therefore, from the patient’s point of view, the diagnosis is usually unexpected and comes as a shock. The way in which a message of an incurable disease is delivered has high impact on both the patient and physician [3]. It will also shape the attitude of the patient toward the disease and toward symptomatic treatment measures available [4]. While most breaking bad news protocols have their roots in oncological context, e.g. SPIKES [5], they seem well suited to other life-changing diagnoses as well [6]. As in oncological context, patients with rare diseases also value ensuring that a timely follow-up is planned; offering informational sheets about the diagnosis; offering contact information of support organizations, with some patients preferring patient support groups while others preferring counsellors; and conveying a sense of determination to aid the patient through the diagnosis [ibid.].

The purpose of the present study was to examine the way in which patients in Poland receive the information about the diagnosis of ALS to propose patient-centred recommendations that consider patients’ perspective. Our goals were twofold: first to assess the extent to which diagnosis deliver practice conforms to established protocols, second to identify any possible gaps in patients’ needs and suggest supplementary recommendations for rare diseases.

The study, approved by The Scientific Research Ethics Committee of the University of Warmia and Mazury in Olsztyn (decision no. 5/2018), was conducted using the PAPI (Paper and Pen Personal Interview) method between February and June 2018. The subjects were private clinic patients (Instytut Terapii Komórkowych – Cell Therapies Institute in Olsztyn, Poland) with diagnosed ALS. The ability to communicate—even if with the support of a caregiver—and good mental health constituted inclusion criteria. Thirty patients were qualified for the study, but ultimately, information was collected from 26 subjects. Two surveys were rejected due to the incompleteness. Twenty-four fully completed interviews were subjected to final analysis, which is a considerable result, given the fact that ALS is a rare disease (Table 1). The interview questionnaire consisted of 30 closed questions (including demographic questions, questions about the diagnostic path, and opinions on the diagnosis), as well as 5 open questions (related to the patient’s experience in each area). The questionnaire translated from Polish original is included in Supplement 1.

As a result, a demographically non-homogeneous sample was obtained. In terms of age, the group was divided into 3 cohorts: 40–49 (33.3%), 50–59 (37.5%), and 60–69 years (25%). In addition, there was one patient under 40 years of age in the sample—exceptionally young for this disease. The distribution of the “gender” variable was 9 (females) to 15 (males), which corresponds to the distribution occurring in ALS disease, characterized by the predominance of men, with 2:1 male to female gender ratio [1]. The distribution of the variable “place of residence” in the sample was also relatively large, with a small advantage of the big city (over 250 thousand).

The process of communicating the diagnosis to patients with ALS is both a challenge for the physician and an extremely difficult experience for the patient [7, 8]. In our study, we focused on the experience of the latter. Based on the interviews, we were able to identify some fundamental problems and challenges related to this process.

The main goal of our study was to explore patients’ experience with ALS diagnosis delivery. Patients’ expectations seem to match the established guidelines for breaking bad news, which are incorporated into clinical skills curricula. Such tools commonly include protocols used primarily in oncology like SPIKES [5] or EMPATHY [9]. Overall, they seem well suited to other life-changing diagnoses as well [6]. However, both the nature of rare diseases, especially incurable and fatal, and the existing support structures, require certain modifications.

Patients generally believe that the most experienced physician should inform them about the diagnosis and details of their medical condition [10]. This seems particularly true in rare diseases, where even specialists in a given field may have a very limited understanding of the course of disease and treatment options.

As reported in some previous studies, patients with rare diseases require more effort to assure a timely follow-up; offering information sheets about the diagnosis may be needed, given the scarcity of available resources [6], for non-English speakers in particular. Offering contact information of support organizations is key, as they tend to have most up-to-date information on support available in rare conditions, while conveying a sense of determination to aid the patient through the diagnosis is necessary in order to maintain reasonable hope [ibid.]. Patients expect professionals to demonstrate empathy and compassion, provide a balanced description of conditions, and make referrals for further care and support [11]. This can minimise the negative psychological impact of the news and maximise psychological well-being. Crowe et al. conducted a study on information and communication needs in rare diseases in Northern Ireland. Their findings show that improving medical care in rare diseases requires coordinated efforts of researchers, practitioners, and policy makers aimed at closer cooperation with patients, carers, and rare disease advocates. The key problem with rare diseases was reaffirmed: difficulties with finding the right health and social care information [12]. Patients’ personal experiences point to the pivotal role of individual health care professional’s engagement, as showed by Jeppesen et al., in their work on ALS. Yet, the perspectives of patient and professionals on information about disease and prognosis diverged significantly [13].

These findings are in concord with the 2017 study conducted by the EURORDIS—Rare Disease Europe Organization. Based on an international survey, it demonstrated the severity of impact of rare disease on everyday life and scarce guidance provided by health care professionals. It is not only low frequency of occurrence but also the complexity of such diseases and their variable and often evolving presentation that pose substantial challenges. Rare diseases demand a lot of dedication from both the patients themselves and their carers, often requiring substantial changes in everyday and professional lives in order to accommodate for complex needs. Unfortunately, because of gaps in support structures, both in psychological and medical care, many people with rare diseases face the problem of social isolation. This leads to a reduction in the quality of life, especially in the area of social and psychological functioning [14]. Relevant information provided in an appropriate manner at the time of diagnosis is thus key to both medical care and social support a patient will seek.

ALS is a rare disease that inevitably leads to the death of the patient. Giving such a diagnosis is stressful and challenging for the doctor, which may lead to errors in the diagnosis delivery, causing irreversible emotional consequences for the patient. The way in which ALS diagnosis is communicated to the patients is a key factor determining their initial reaction [15]. Communication skills are thus crucial, as is experience with treating patients with this particular disease: providing information to the patient requires preparation, time, intimacy, tact, and respect. Unfortunately, systematic research related to effective communication regarding end-of-life for persons with amyotrophic lateral sclerosis are still lacking [16]. However, it is possible to highlight some important elements.

Rabow and McPhee proposed the mnemonic of ABCDE consisting of advanced preparation, building a therapeutic environment, communicating well, dealing with patient and family reactions, as well as encouraging and validating emotions [17]. Similar steps are envisaged in SPIKES and EMPATHY protocols. There is no single ideal method for communicating the diagnosis to the patient, but guidelines provide a good guidance to the task. The experiences of our patients confirm that the conversation about the diagnosis should be carried out by experienced doctors, especially with patients with such condition as ALS [18]. When the doctor was not properly experienced, patients felt the lack of knowledge and preparation of physicians which significantly worsened their mental state. Therefore, as the accounts of the patients’ show, information about diagnosis should be communicated in a clear and empathetic manner, including prognosis and all therapeutic possibilities. It is unacceptable to leave patients without full information and an indication of further treatment course. Also giving reasonable hope seems to be paramount [19]. An important supplement to the information provided in the diagnosis are those obtained from the outside. Especially patients’ organizations are very helpful. Sometimes such organizations are the best source of meaningful information on disease and care options. Other patients provide inspiration, compassion, and hope [20].

Interestingly, the doctors themselves admit their limited ability to convey bad news. Often, the knowledge gained during studies is insufficient, and the knowledge gained during work is sometimes only based on the experience acquired through observations [21].

For this reason, the problem of communicating difficult diagnosis has strong implications for medical school curricula. In Poland, at medical universities, this subject is most often offered in the form of optional courses. An interesting example of the compulsory course for medical students is the University of Leipzig, where a curriculum for teaching communication skills between patient and physician has been established, based on the COMSKIL CST program. The German “Masterplan Medizinstudium 2020” adopted in 2017 by the German Federal Ministry of Health and the Federal Ministry of Education and Research (BMG) assumes the need to educate medical students to communicate effectively with patients in various clinical situations [22]. The importance of incessant education to communicate was shown in a study conducted at the Faculty of Medicine of the University of Porto, Portugal, which was aimed to determine the level of communication skills after a 4-month communication skills course for students. Skills were evaluated after 3 years. A slight deterioration in the way of communicating with the patient was noticed, which proved the necessity to constantly update these skills [23]. The British NHS (National Health Service) can be considered as a model in which good communication with the patient is recognized as an important goal that can lower treatment costs and improve treatment outcomes. On June 2020, NHS has published report “Improving communication between health care professionals and patients in the NHS in England. Findings of a systematic evidence review and recommendations for an action plan”. The report broadly discusses the need for good communication with the patient. Assuming an annual training system for medical personnel, it also emphasizes the economic aspect of this venture [24].

The attested shortcomings in diagnosis delivery in ALS seem to result from limited knowledge about a rare disease even among specialists—neurologists in this case. As we noted during interviews with our respondents, since specialists are likely to encounter ALS patients only a few times throughout their careers, the first case usually comes quite as a surprise. But the learning process cannot afford accidental actions, in diagnosis delivery.

The importance of the therapeutic relationship with the health care professionals and the value of the caring act come to the fore in positive accounts. Patients valued being assured of continuous support, no matter what the course of disease would be. The ongoing interest contributed to the patient’s well-being, as expressed by invitations to periodic health assessment. Patients appreciated if the information about prognosis was passed on gently, with probing questions assessing how much a given person can handle. In one of our studied patients’ testimonies, “such psychological help is even more important than the actual treatment”.

Our observations coincide with those of other studies [25]. They indicate among others the uniqueness of the situation of providing a diagnosis of ALS and other rare diseases, the need to pay attention to the patients’ emotions, use a psychologist for this process, provide information that is true, but not devoid of hope, listen to the patients’ reactions, and preparing a proposal for a disease management plan. All elements are necessary for this process to minimize the negative impact on the patient’s health.

Based on the results of our study and a review of other studies, we propose a list of patient-centred recommendations which should be used in the process of delivering difficult diagnosis in rare diseases: