Advance Care Planning in Amyotrophic Lateral Sclerosis

In the absence of highly effective disease-modifying therapies, much of the relationship between clinicians and patients with amyotrophic lateral sclerosis (ALS) centers on ensuring patients understand the cause of their symptoms, gain understanding and ability to manage their functional impairments, and receive help to anticipate and manage disease progression. Several recent high-quality reviews have focused on disease-modifying and palliative therapies.^1,2 Advance care planning (ACP) involves the early discussion of patients’ preferences regarding medical care. Although ACP is common in ALS multidisciplinary clinics, approaches to these discussions are quite variable. In this review we discuss our approach to ACP and the data critical to informing these discussions.

Curative, Palliative, and Invasive Care

In the classic model of medical care, particularly in oncology, curative care was the focus of all medical efforts until cure was deemed impossible, at which point palliative and hospice care was initiated with a focus on managing uncomfortable symptoms (Figure A). More modern models of medical care involve overlapping curative and palliative care throughout the disease course, with curative care representing the majority of effort early in the disease course and palliative care taking on a greater focus as disease progresses, eventually leading to hospice care (Figure B).

Unfortunately, there is no cure for ALS yet. We therefore propose a different model, in which symptom management is a substantial focus of clinical care from diagnosis onward. Although not curative, some invasive measures provide palliative or survival benefits or both (Figure C). In this “envelope” model of care, the treatment path is centered on the patient’s decision making and may involve minimal or maximal invasive measures with palliative care provided throughout (Figure D).

Initiating ACP Discussions

A thoughtful approach to the medical decisions facing persons with ALS and their families is a critical part of establishing a therapeutic alliance. Our initial contact with individuals suspected of having ALS centers on establishing a clear diagnosis with exclusion of other possibilities. Once ALS is established as the likeliest diagnosis, this is communicated in terms that are direct. We are careful to use multiple disease names, including ALS, Lou Gehrig’s Disease, and motor neuron disease to ensure there is no ambiguity with respect to the diagnosis. During the diagnostic process, we focus on building a strong therapeutic alliance with the patient and family. If there is no specific reason to be concerned about imminent respiratory or nutritional failure, an ACP discussion is generally not introduced at diagnosis, unless specifically requested by the patient or family. This approach is supported by a recent qualitative review of the ALS patient experience, which found that at the time of diagnosis many exhibited bewilderment, denial, distress, and sadness, followed shortly by efforts to maintain control with the prospect of steady deterioration looming.³ In this setting, support and close follow-up are warranted, but introduction of decisions that will only become relevant months to years in the future will likely worsen anxiety.

Discussions regarding ACP are, instead, initiated at follow-up visits and may be introduced by the physician, the patient, a caregiver, or any member of the multidisciplinary team. The discussion of ACP should include clarification of issues surrounding power of attorney and a living will. Many people either do not have a living will or are unaware of the contents of a living will. Additionally, conditions put forth in many living wills do not apply because they are often contingent upon an irrevocably impaired cognitive state. Portable Medical Orders or “POLST” forms (https://polst.org/) and the state-specific derivatives can be the most helpful. These forms are usually quite simple and specifically designed for people with serious life-limiting medical conditions. A recent study showed that when POLST forms were used in a nursing home population, life-sustaining treatments (eg, intubation) were delivered in concordance with patient wishes at a significantly higher rate than for those without a POLST.⁴

Even with these simplified forms, however, a structured ACP discussion is warranted as the decisions faced by people with ALS and their caregivers can be nuanced and complex. Although POLSTs are more relevant than a typical living will, working with the patient and caregiver through the key decisions will allow all stakeholders to better understand the patient’s intentions. A 2017 study of people with ALS showed use of an online decision-making aid Making Your Wishes Known provided information to physicians that greatly improved their ability to predict their patient’s choices in a series of clinical vignettes.⁵ A recent comprehensive meta-analysis of randomized controlled trials evaluating effects of ACP interventions found all studies reported an improvement in patient-clinician communication and over half reported a significant improvement in patient satisfaction.⁶

Making the Path: Focusing on Decisions

We typically focus our discussions on the specific interventions most individuals with ALS will face to mitigate worsening bulbar and respiratory muscle weakness (eg, gastrostomy tube placement, noninvasive ventilation [NIV], tracheostomy with mechanical or invasive ventilation [IV] and hospice). The decision to proceed with each of these treatment options is based on a number of factors. Generally speaking, these conversations are held at different times during the disease course, as they become clinically appropriate. A useful heuristic we use is to consider three “Fs” of decision making: the Feelings, the Facts, and the Family.

The Feelings

Patients often have intuitions about procedures that may be based upon prior personal experience or media exposure. It is helpful to understand a patient’s point of view on medical procedures before attempting to review any specific details. For example, asking patients if they have heard of a feeding tube and what they think about feeding tubes in an open-ended fashion can be a useful way to gauge their medical knowledge and intuitions about the procedure. This discussion can also be a useful time to assess the patient’s personal goals that can later be used to help determine if a specific procedure may or may not be useful in achieving those goals. For example, a person’s hope might be to see their grandchildren regardless of their own physical condition, whereas another might want to avoid the substantial disability that may come with prolonging the duration of their disease.

The Facts

It is important that people with ALS and their caregivers understand the specifics of gastrostomy tube placement, NIV, IV, and hospice care. This means reviewing the basic mechanics of these interventions and the potential benefits and risks.

Among the first major decisions faced by people with ALS may be whether to proceed with a gastrostomy tube to supplement nutrition in the setting of dysphagia and weight loss. Several studies have evaluated the effect of gastrostomy tubes on survival and quality of life with mixed results. A 2012 study compared quality-of-life measurements before and after gastrostomy placement and found no significant difference after the intervention.⁷ The study cohort, however, was small and there was no control group of similar patients who did not have a gastrostomy placement. In 2013, a study of 121 people with ALS showed decreased mood, quality of life (notably “physical functioning”), and survival in those with weight loss of more than 3 kilograms since disease onset.⁸ A subset of these individuals had gastrostomy tube placement, and almost 80% reported weight stabilization and stable-to-improved quality of life.⁸ In contrast, a causal inference analysis found a negative effect on survival and no improvement in quality of life.⁹ Finally, a 2019 meta-analysis of 7 studies showed gastrostomy placement increased survival by 6 months, with a more pronounced effect if the gastrostomy was placed before there was significant respiratory weakness. Weight stabilization was also seen with gastrostomy tube use, although mood and functional status were not significantly improved.¹⁰ Considering this conflicting data we typically focus discussions of gastrostomy tube placement around the patient’s comfort with eating. We recommend considering gastrostomy tube placement for individuals with preserved respiratory strength for whom eating has become a burden rather than a source of enjoyment.

Another clinical decision faced by persons with ALS is whether to start NIV, such as bilevel positive airway pressure (BiPAP), to improve symptoms related to respiratory muscle weakness and hypoventilation. These issues typically first occur at night and can lead to symptoms reminiscent of obstructive sleep apnea and an associated decreased quality of life.¹¹ Use of NIV improved several tests of cognitive function in a small cohort of ALS patients who had nocturnal hypoventilation on polysomnography.¹² A larger randomized controlled trial assessed the impact of NIV on quality of life and survival in a cohort of ALS patients who had developed clinically apparent respiratory muscle weakness. Those with good bulbar function had improved survival and a longer duration of preserved quality-of-life metrics; however, these benefits were not seen in individuals with significant bulbar weakness, who had a hard time tolerating NIV.¹³ These results were confirmed in another large cohort study, in which daily NIV use for more than 4 hours produced a significant survival benefit, but only in those with limb onset ALS.¹⁴

With progressive respiratory weakness, eventually NIV will be inadequate, and to further prolong life, IV will be required. Several cohort studies have demonstrated a survival benefit to IV. In Japan, where IV is more common than in the US and in Europe, patients who started IV survived for a mean 74 months compared with 48 months for NIV.¹⁵ A 2003 study from Germany also demonstrated an increase in survival for people who used IV with similar quality-of-life outcomes between a group using IV and a group using NIV; caregiver satisfaction, however, was lower in the group using IV.¹⁶ A prospective study conducted largely out of a single ALS center in the US found that individuals who chose to start IV had a higher level of optimism and a lower level of depression compared with those who chose to forgo IV.¹⁷ Although there was some decline in metrics measuring optimism and weariness, the wish to live remained high several months after initiating IV.¹⁷

In the US, most people with ALS do not choose IV, and fewer than 10% elect for a tracheostomy.¹⁸ For those who forgo IV, it is important to discuss hospice care. Many understand hospice care as a means of hastening death (Feelings). It is important to explain that hospice focuses on symptom management and emotional needs rather than prolonging life. We review expectations regarding hospice care logistics (eg, stating “a hospice nurse typically comes once a week”) along with specific hospice interventions (eg, morphine for shortness of breath and lorazepam for anxiety). Several studies have demonstrated a positive impact on end-of-life care for people with ALS enrolled in hospice. A survey of caregivers found that more individuals with ALS who were enrolled in hospice were more likely to die in their preferred location outside of the hospital and to receive morphine for symptom relief.¹⁹ Another study found people with ALS from minoritized groups in the US and unmarried individuals were both more likely to die in acute care facilities than at home.²⁰ Although this study did not examine differences in hospice enrollment, it does highlight the need to ensure that all patients receive thorough counseling on the role of hospice prior to acute decompensations.

The Family

In this heuristic, Family refers to the fact that no patient decision occurs in isolation. Social support networks, financial resources, and insurance coverage play a significant role in decision making. Practically speaking, many interventions can be difficult to manage in light of progressive weakness and loss of dexterity. Although gastrostomy tube placement is a safe procedure with little required maintenance after healing of the surgical site, fine motor function is required to connect and disconnect from enteral feeding, necessitating daily aid of a caregiver. NIV can also require caregiver support in the setting of impaired hand strength. IV adds a significant level of complexity to the daily care of a person with ALS, and many insurance companies will provide little support to ensure 24-hour care in order for a person using IV to remain at home. The ability of a family to provide this level of care may factor into a person’s decision about proceeding with IV.

Many psychosocial factors can influence the decision-making process. As understanding of ALS pathogenesis has progressed, an association with frontotemporal dysfunction (FTD) has become apparent.^21,22 There is a spectrum of disease between ALS and FTD and a recent study utilizing consensus criteria analyzed cognitive impairment in people with ALS patients found that 20% (n=797) had ALS-FTD and another 30% had milder forms of cognitive or behavioral impairment.²³ Although recognizing cognitive decline in people with ALS is important, in our experience, this rarely leads to a person with ALS losing decision-making capacity ast is commonly seen with advanced Alzheimer disease. Recognition of behavioral changes from FTD in people with ALS is important, however, as such impairments may influence ACP conversations.

In the study previously discussed that examined characteristics of people with ALS who did or did not choose elective IV, significant differences between the groups were found. Those who underwent IV reported significantly higher levels of overall life satisfaction and those who chose to forgo IV showed significant levels of depression. Based on the Beck Depression Inventory none who chose IV were clinically depressed, whereas 26% of those who continued electing not to have long term ventilation met criteria for depression.¹⁷ This finding highlights the importance of screening persons with ALS for mood disorders and initiating appropriate treatment early in disease course. A study also found individuals with ALS with higher levels of spirituality also had higher levels of hope for the future and were more likely to elect for gastrostomy with enteral feeding and NIV; there was no significant difference in the choice for IV, however.²⁴ Decisions to undergo IV can vary, based on cultural attitudes as well as government and insurance support for the procedure, because once a patient begins IV they will often require 24-hour care, mandating facility placement or a high level of caregiver support. In Japan and other Asian countries, frequency of IV can approach 20%, as opposed to 10% or less in many European and North American countries.^14,15 Part of this difference may stem from recommendations of treating neurologists, with US neurologists being much less likely to encourage IV use compared with Japanese colleagues (79% vs 36%).²⁵

Conclusion

Without highly effective disease-modifying therapies, people with ALS and their caregivers require a unique approach to advanced care planning to ensure decisions regarding nutritional and respiratory support are not left until a crisis occurs. Conversations surrounding patient preferences towards invasive procedures (eg, gastrostomy tube, NIV, hospice, and IV) occur early in the physician-patient relationship, although after a period of establishing a clear diagnosis and a therapeutic alliance. We use a heuristic emphasizing the three “Fs” of decision making: Feelings, Facts, and Family to address all factors that may contribute to a patient’s decision making. The use of POLST forms is particularly helpful to codify patient’s decisions for future scenarios in which they may be incapacitated.