Existential decision-making in a fatal progressive disease: how much do legal and medical frameworks matter?

The communication of the diagnosis is the first occasion at which physicians are in the position to inform patients about available treatment options and future implications of their diagnosis. The 2012 guidelines for the treatment of ALS, edited by the European Federation of the Neurological Societies (EFNS), urge physicians to proceed cautiously and to judge on a case-by-case basis how much the patient wants to know about choices that must be made in later stages of the disease. The diagnosis itself should be “pursued as early as possible”. It should be communicated to the patient as soon as the most established criteria are met [5]. At a minimum, patients should be informed about the neuroprotective treatment with riluzole, since this step must be taken immediately. Other treatment options, like enteral nutrition and ventilation therapy, may be raised at a follow-up visit, but physicians may be forced to discuss these issues at diagnosis if the patient already shows signs of malnutrition and/or respiratory insufficiency.

Given the sometimes rapid progression of symptoms, including the risk of developing FTD [6], the guidelines advise physicians to discuss treatment options and initiate advance-care planning at an early stage when the patient’s decision-making capacity is not yet doubted [7]. A written advance directive is recommended as a guarantee that no treatment will be initiated against the patient’s will, following the principle of respect for patient self-determination.

Invasive mechanical ventilation (IV) has given rise to controversy in the medical literature [19]. While more than 30% of patients with ALS in Japan receive long-term mechanical ventilation, IV is used only rarely in European countries [20, 21]. Despite empirical evidence of its life-prolonging effect, IV is not routinely offered by physicians and is only rarely requested by patients with ALS.

This particular issue tackles the more general debate on the legitimacy of withholding or proposing life-sustaining therapies. On the one hand, the physician’s authority to limit treatment can be legitimated as an indispensable barrier to potentially irresponsable requests by patients for maximum therapy [22]. On the other hand, the patient’s right to actively participate in end-of-life decision-making is justified as a necessary safeguard against the potentially subjective judgement by physicians concerning the presumed quality of life [23, 24].

In the scenario in which the physician favors a more extensive treatment, patients have the right to refuse therapeutic options that would contradict their values; patient autonomy trumps the physician’s strive for beneficence. In the inverted scenario, in which the patient wishes to start a life-sustaining therapy while the physician questions its usefulness, the principle of patient autonomy comes into conflict with the physician’s therapeutic prerogative and commitment to nonmaleficence. There is no obvious solution to this conflict, and the country-specific frameworks resolve it in different ways.

These difficulties are reflected in the recommendations of the EFNS guidelines concerning the treatment of respiratory insufficiency. While there are clear medical criteria for the initiation of enteral nutrition, the decision for or against a specific respiratory treatment is presented as a more delicate matter. The guidelines state that there “is no clear evidence regarding the timing and criteria” for the use of NIV and IV. Awkward conflicts should be prevented through early advance-care planning “before respiratory complications occur” [5]. More specific recommendations make it clear that decisions on respiratory management depend not only on the patient’s preferences and values but also on particular external factors.

According to the guidelines, NIV is preferable to IV primarily because research has confirmed an improved quality of life through NIV, whereas for IV “no documented improvement in quality of life has been reported”. Although IV could prolong survival, “in some cases for many years”, it involved the “risk” that “some patients [would] develop a ‘locked-in’ state”. Second, the guidelines point to adverse economic and social implications of IV. It is “costly” and has “significant emotional and social impacts on patients and caregivers” [5]. Overall, IV is recommended only as a possible option rather than an obligatory therapeutic intervention (Fig. 1). The guidelines ultimately leave it open whether a physician should propose IV or recommend palliative care in the sense of basic comfort treatment for a dying patient. The accomodation of potentially conflicting preferences between physician and patient on this issue are thus left to country-specific regulations.

These recommendations are compatible with two different models of the physician-patient relationship. On the one hand, the reference to a patient’s advance directive and the openness to both IV and palliative care might point to a procedure of “shared decision-making”, in which the physician and the patient act as equals and share the responsibility for treatment choices [25‐27]. The physician provides information about all potential treatment options in an unbiased way and then seeks an agreement with the patient on the preferred course of action. If we take a look at Emanuel and Emanuel’s “four models of the physician-patient relationship”, this approach corresponds to the “interpretive model”. According to this model, the physician takes the patients’ personal values and conceptions of a good life as the main benchmark for subsequent decisions. Because patients are not always fully aware of their values or of how they might relate to the treatment choices they confront, the physician has the duty of “helping to elucidate values and suggesting what medical interventions realize these values”. In reconstructing the patients’ goals and aspirations, the physician’s role is that of a well-intentioned “counselor, analogous to a cabinet minister’s advisory role to a head of state” [28].

On the other hand, the guidelines’ qualification of IV as optional and the accentuation of its drawbacks might point to a more hierarchical decision-making process in the physician-patient relationship, corresponding to Emanuel and Emanuel’s “deliberative model”. According to this model, the physician would help the patient to place isolated treatment decisions in a larger context, discussing the broader consequences of a treatment measure for the patients’ life. He or she would, however, focus on “health-related values” and assertively promote the medically indicated course of action. In contrast to the interpretive model, physicians would explicitly try to educate the patient in order to influence the decision-making process. As Emanuel and Emanuel make clear, “the physician aims at no more than moral persuation”. Acting as a “teacher or friend”, the physician “indicates what the patient should do, what decision regarding medical therapy would be admirable” [28].

Both these models fulfill the requirements of an “informed consent” framework, but differ in their approach to the communication between physician and patient.

While patients in Sweden, Germany and Poland have the right to refuse treatment options before they are initiated, their legal situation differs with regard to the elective termination of life-sustaining treatments after they have been started. Whether the discontinuation of ventilation therapy – most likely leading to the death of a patient with ALS – is allowed depends on the country-specific regulations regarding assisted dying and palliative sedation on request [50].

The EFNS guidelines do not address the legal or ethical preconditions for removing the ventilator of a patient with ALS. Recommendations are restricted to the factual statement that “parenteral morphine, a benzodiazepine and an antiemetic are used when the patient decides that ventilatory support should be withdrawn” to avoid dyspnoe, reduce anxiety and alleviate suffering [5]. Physicians discussing the withdrawal of the ventilator with their patients are medically and ethically obligated to offer accompanying sedation therapy [51, 52].

Two sedation procedures can be implemented for the withdrawal of ventilation therapy. First, if a mask-ventilated patient is still capable of residual spontaneous respiration, low doses of benzodiazepines and morphine are administered in order to achieve an “intensified symptom control”. This procedure also includes a high-dose oxygen therapy, leading to a narcosis by hypoventilation and carbon dioxide retention. Second, if the spontaneous respiration level is too low, and it is thus predictable that suffocation will occur immediately after the respirator is disconnected, “deep sedation” is recommended. In this case, the patient’s narcosis is induced by much higher doses of benzodiazepines and morphine [53].

The withdrawal of ventilator treatment raises further legal and ethical questions. Since the discontinuation of ventilator treatment is usually considered in the late stage of ALS, patients may be unable to communicate their wishes, or may have lost their decision competence due to advanced FTD. In such cases, the binding force of the patient’s advance directives, as well as the requirements for surrogate decision-making, needs to be reconsidered.