Living with ALS (2024)

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2 Living with ALS Today ABSTRACT One element in this study’s statement of task is to articulate what would be needed to make amyotrophic lateral sclerosis (ALS) a livable disease in a decade. As a tool to help respond to that task, the committee uses this chapter as an attempt to describe what it means to live with ALS today. There is no one definition of livability in the context of ALS, given that every person living with ALS, every person with a genetic risk of developing ALS, and every family member of someone with ALS has their own unique experience living with the disease. However, it is clear from speaking with people living with ALS or with a genetic risk of developing ALS and their family members that there are addressable challenges and barriers that make living with ALS far more difficult that it needs to be. As discussed in this chapter, a big step toward making ALS a livable disease would include minimizing (1) the day-to-day challenges confronting people living with ALS, (2) the difficulty obtaining the necessary care and services, (3) the emotional and mental health toll of having a progressively disabling and invariably fatal disease, and (4) the economic burden that can devastate a family’s finances. Guaranteeing equitable access to high-quality, multidisciplinary care for all individuals, regardless of socioeconomic status or geographical location, is of paramount importance. This would include providing affordable and equitable access to physical, occupational, speech, respiratory, and behav- ioral therapies; durable medical equipment, such as electric wheelchairs and noninvasive ventilators; and palliative care, all without having to prove 45 

46 LIVING WITH ALS present or future necessity, given the diagnosis of ALS. Eliminating the substantial delay many if not most people with ALS experience in getting a clear diagnosis is critically important, both to start multidisciplinary care as soon as possible and to alleviate the substantial emotional burden that comes with waiting and uncertainty. This requires better educating primary care physicians and general neurologists about ALS and its many presenta- tions. These are all achievable in the near term and would help realize the goal of making ALS a livable disease within a decade. MAKING ALS LIVABLE IN 10 YEARS To address the charge of providing recommendations to make ALS livable in 10 years, the committee worked to define making the disease “livable.” In the committee’s own discussions, and in discussions with people living with ALS, the committee realized that making it livable has two important, primary dimensions: (1) increasing the effectiveness of treatment, with the goal of managing symptoms, increasing longevity and ultimately finding a cure; and (2) increasing the quality of life, as measured by the level of satisfaction and enjoyment experienced by people with ALS. This means that ALS is livable when an individual diagnosed with ALS or at genetic risk of developing ALS can survive, thrive, and live a long, meaning- ful life while meeting the medical, psychosocial, and economic challenges of the disease. Combining these elements into a single definition has several important implications. First, making ALS livable means accelerating efforts to find effective treatments for ALS. This is likely to require discoveries in the pathogenesis of the disease, the development of effective biomarkers, a more respon- sive and effective clinical trials network, and other steps, as outlined in Chapters 5 and 6. Second, making ALS livable means helping all people with ALS and their families receive the current standard of care. Today, that standard is multidisciplinary care in clinics that can provide prompt diagnosis and essential care. To this end, Chapters 3 and 4 outline a series of recommenda- tions for developing a more effective clinic structure to reach all Americans with ALS and at-risk ALS genetic carriers as well as closing policy gaps that make it hard for people with ALS to receive what they need. Third, making ALS livable means addressing the social, economic, and mental health stresses associated with this devastating disease. Chapter 3 discusses policies to support family caregivers, prevent unnecessary expenses, and enhance mental health services. Fourth, and finally, to make this dual definition of making ALS livable work, it is necessary to measure progress in both longevity and quality of life at the population level. It is not possible to answer 

LIVING WITH ALS TODAY 47 whether ALS is becoming more livable by hearing about one person, or even 1,000. ALS is only becoming more livable if people with ALS in the aggregate are living longer and if their lives are more satisfying and fulfilling. It is telling that even baseline data for the current state of the ALS population do not exist. Assessment of these fundamental questions requires population level data systems, such as a comprehensive registry, which is covered in Chapter 5. Once developed, it will be possible to assess where the population of persons with ALS now stand and to set specific goals. Operationalizing Livability There are many ways to operationalize what it means to make ALS a livable disease. The most obvious definition of what it means to make ALS a livable disease is to develop a cure or effective therapies capable of trans- forming ALS from a fatal disease into a chronic one with easily managed symptoms that have little effect on the quality of life for people living with ALS, their family members, and other caregivers. In the time until a cure is developed, measurable, actionable goals are needed to ensure progress is made. One possibility is to focus on monitoring 5- and 10-year survival rates for individuals with ALS and compare to what is currently known about long-term cumulative survival in ALS to understand progress made and improvements still needed. Regardless of metric, people with ALS deserve to be able to live long and fulfilling lives, unhampered by the progression of this disease. The committee believes increases in survival are possible if, while a cure and meaningful treatments for ALS are being pursued, there is also a renewed focus on improving clinical outcomes and quality of life, beginning with the interventions and care services available today. For example, it is unknown how many individuals with ALS are receiving the critical, first line medical treatment (riluzole) early on in their diagnosis. Estimates indicate a range of 38 percent (MDA, 2018) to 72 percent of persons with ALS in the United States receive riluzole (Takei et al., 2017). To do better for people living with ALS, a more complete, accurate picture of how the population is doing and the treatments they are receiving is needed. There are also many care services and interventions that help people with ALS live better and longer. For example, reducing diagnostic delay, the early initiation of noninvasive ventilation, and the use of multidisciplinary care have significant effects on both survival and quality of life (de Almeida et al., 2021; Gwathmey et al., 2023; Witzel et al., 2022). Support services such as nutritional care, palliative care, and mental health care have also demonstrated encouraging effects as well (Ludolph et al., 2023; Rosa Silva et al., 2020; Wu et al., 2022). More universal application of interventions 

48 LIVING WITH ALS known to improve prognosis for people with ALS, earlier initiation of these interventions, and continued research into how to make them most effective would create immediate impact for people living with ALS and their caregivers. Pursuit of any metric focused on clinical outcomes needs to be pur- sued in parallel with robust efforts to improve quality of life to make ALS a livable disease in the next 10 years. There are many measurements of quality of life that can and are used in ALS today. The committee envi- sions that quality-of-life measures would capture the ability of an indi- vidual with ALS to do what is meaningful for them. ALS is livable when the individual is confident they can pursue and achieve what for them in life has meaning and to avoid financial devastation in doing so. Sources for meaning can include work, personal relationships, and improving the lives of others with ALS. These are more likely to be achieved when there is expedited access to essential ALS medical and support services; centralized resources to receive support for needs not otherwise accessible or covered by insurance; proper training and compensation of caregivers; access to therapies and technologies that prolong life, improving qual- ity and function; maintenance of financial stability; and preventing ALS in at-risk persons. For people at genetic risk of developing ALS, having measures that prevent the onset of life-altering symptoms would make ALS a livable disease. The committee held public discussions with people living with ALS, people at genetic risk of developing ALS, and the individuals who care for and treat people with ALS (see Boxes 2-1 and 2-2). No two people expe- rience ALS the same way. As their disease develops, their priorities and aspects of life they focus on may change. Regardless of their individual priorities and focus, making aspects of day-to-day life more accessible to people living with ALS would greatly improve their quality of life. Achiev- ing this requires making care, equipment, and other resources more widely accessible for everyone living with ALS, regardless of who they are and where they live. Individuals with ALS who know that drugs, devices, and supportive services can likely address future inevitable symptoms will live better today. For example, having that knowledge can lessen the anxiety and depression that often accompanies an uncertain future with ALS and can allow a person living with ALS to anticipate that they can continue to find meaning and participate in life. Challenges to Improving Livability A diagnosis of ALS is life changing for individuals and their families, and having timely access to high-quality, affordable treatment is imperative to easing the transitions that accompany an ALS diagnosis. The symptoms 

LIVING WITH ALS TODAY 49 BOX 2-1 Perspectives on Living with ALS “Living well with ALS sounds counterintuitive . . . but those of us who have it have to try to do the best we can with it . . . trying to live well is constantly trying to be comfortable and have the resources we need to accommodate the myriad of needs that I have. . . . Some would say just living is a good thing. Well, at least you’re alive. Yes, that’s nice, but I think it’s more about to be able to be useful and do things that help others. That’s part of how I live well—by writing on a regular basis about ALS.” —Jim Clingman, person living with ALSa “For me, living well is living the fight against the disease. I go to ball games, I go to bars, I go out for dinner or brunches with friends like I used to. . . . It’s probably going to kill me, but if I’m successful working with everyone else with this disease who’s engaged in the fight, it may kill me first but I’m going to kill it in the end. Me and everybody else. That’s my mission, and that’s my living with it. My living with it is my killing it.” —Paul Seifert, person living with ALSa “It is so scary, but you can get through it. Find a good clinic, find a community, and ask for help. Many tools help me live my best life. My comfortable wheelchair, my Tobii Dynavox, which allows me to control everything around me, the bipap I wear at night to get a restful night’s sleep and wake up refreshed and ready to attack the day. But you can still find meaning living with ALS.” —Desiree Galvez Kessler, person living with ALSa Asia was diagnosed with ALS in 2016, yet she never let anything steal her shine or her zest for travel. Since diagnosis, Asia has traveled throughout the United States and been to Greece, Thailand, Mexico, the Bahamas, and the Dominican Republic. Asia created #AsiaDay in July 2020 where she does everything her heart desires, including a 90-minute massage, shopping, new restaurants, live events, or searching for the perfect mojito. —Asia Jami, person living with ALSa a Presented by Jim Clingman, Paul Seifert, Desiree Galvez Kessler, Asia Jami, and Kristin Rankin at “Amyotrophic Lateral Sclerosis: Accelerating Treatments and Improving Quality of Life – public workshop” on August 23, 2023; Asia Jami’s comment is a brief biography that was read out by study staff during the workshop. continued 

50 LIVING WITH ALS BOX 2-1 Continued “Some may ask how one can look at an ALS diagnosis and see anything that could be called a ‘positive change.’ In my case, continually looking for positives is a large part of what has kept me going for the last 6 years. . . . I have been active in ALS research . . . through my involve- ment in clinical trials, expanded access programs, and observational research studies, I have met some truly amazing and dedicated re- searchers. For the last 2 years, I have looked forward to spending a half- day at the hospital every 2 weeks getting an infusion of an experimental medication simply for the opportunity to spend time learning from people who are incredibly caring and empathetic.” —Bruce D. Rosenblum, person with lived ALS experienceb “Participating in a trial made me feel like I regained some control over my situation, like I was doing something to fight back against the disease, and it gave me hope, even though I didn’t know if I was in the placebo or treatment group. It also feels good to contribute to moving the science along, which I’ve heard from other people living with ALS, too.” —Kristin Rankin, person living with ALSc b Presented by Bruce Rosenblum at “Amyotrophic Lateral Sclerosis: Accelerating Treatments and Improving Quality of Life – public workshop” on August 10, 2023. c Personal communication received by the committee on February 8, 2024. of ALS often impede basic motor function and day-to-day activities, while less frequently, symptoms arise such as emotional difficulties and unusual behaviors associated with co-occurring frontotemporal dementia. Peo- ple living with ALS must continually adapt their living environment to meet changing needs as the disease progresses. I immediately realized that we would have to move because there was no way our home could reasonably be made accessible, and my wife and I would have to sell the software business we had spent 25 years building. —Bruce D. Rosenblum, person with lived ALS experience, presented during August 2023 public workshop Durable medical equipment (DME), home modification, and assis- tive technology can help with everyday activities and enable individuals with ALS and their families to minimize disruptions and maximize quality 

LIVING WITH ALS TODAY 51 BOX 2-2 Caregiver Views on Quality of Life “Quality of life for my family meant maintaining some normalcy within the household and sticking to a routine as much as possible. He had a tracheostomy and ventilator, catheter, feeding tube. We would do what- ever we had to, and he was ready to do whatever we had to so we could keep a normal family unit as much as possible.” —Siobhan Pandya, caregiver for a person living with ALS “Our quality of life looked very different because Niesha was only 22 years old. To her, her quality of life was trying to accept what had happened and what was happening to her as a 22-year-old young adult, live with the fact that her body was changing, everything was changing and she didn’t have any control over it, and make decisions for herself based on having a better quality of life.” —Vanessa Jackson, Mother/caregiver of person living/ passed away from ALS SOURCE: Presented by Siobhan Pandya and Vanessa Jackson at “Amyo- trophic Lateral Sclerosis: Accelerating Treatments and Improving Quality of Life – public workshop” on August 23, 2023. of life. Home care, discussed in Chapter 3, becomes important as symp- toms become more disabling, as is respite and mental health care for fam- ily members to help them deal with the emotional and physical stress of caring for an individual with ALS. However, unless a person with ALS is a veteran and receives care from the U.S. Department of Veterans Affairs (VA) (see Chapter 4), dealing with insurance challenges such as preauthorization requirements can make accessing DME, home modification, assistive tech- nology, and home care a significant burden for individuals with ALS and their families (see Chapter 3 for more on insurance challenges). ALS is a complex disease demanding a multidisciplinary approach to care involving a wide range of health care professionals and ancillary services. Box 2-3 lists some of the challenges and opportunities identified by the individuals with ALS and their families and caregivers that the committee consulted. The committee considered each issue and the oppor- tunities to address them in its deliberations on how to make ALS a livable disease in the next decade. The recommendations the committee offers in 

52 LIVING WITH ALS BOX 2-3 Action List for the ALS Community The following is a list of some of the challenges and opportunities identified by the individuals with ALS, as well as their families and care- givers, who provided feedback to the committee: For people living with ALS: • a cure for ALS; currently there are only three treatments with limited efficacy • equitable access to high-quality, multidisciplinary care for all indi- viduals, regardless of socioeconomic status or geographical location • implementing the U.S. Department of Veterans Affairs standard of care for all people living with ALS • affordable access to physical therapy, occupational therapy, and speech therapy • affordable access to respiratory therapy, including noninvasive ventilation • affordable access to mental health services • universal access to durable medical equipment, such as noninva- sive ventilators and eye-tracking devices • insurance coverage of electric wheelchairs; one chair can cost $25,000 out of pocket • federal protections for aid-in-dying laws • palliative care; hospice is not enough subsequent chapters of this report seek to address many of these issues and catalyze large-scale system changes that would better serve individuals liv- ing with ALS, their families, and people at genetic risk of developing ALS for many decades into the future. Diagnostic Delays While advances have occurred over the past 20 years in under- standing the genetic and environmental risk factors for ALS, delayed diagnosis remains a challenge (Falcão de Campos et al., 2021; Kraemer et al., 2010; Williams et al., 2013). Multiple studies have found the average delay from the first signs that something is wrong to confirmed diagnosis is 10 to 16 months. This is a significant length of time, con- sidering the mean survival time with ALS is 2 to 5 years (see Table 2-1 and Figure 2-1) (Falcão de Campos et al., 2022; Galvin et al., 2015; Matharan et al., 2020a; Richards et al., 2021). Earlier diagnosis would 

LIVING WITH ALS TODAY 53 • reliable remote cognitive and physical testing • education of primary care and primary neurologists about symp- toms and early diagnosis • a program to lessen the feeling of isolation For caregivers: • a strong program to lessen the feeling of isolation • access to mental health services • a way for working caregivers to avoid financial ruin when caring for a loved one • paid respite care For the genetic ALS community: • enrollment in clinical trials • protections against discrimination by employers and insurers For the ALS community at large: • increased research funding • collection and sharing of biospecimens • collaboration between hospitals, pharmaceutical companies, and nonprofit organizations • a national registry including all people living with ALS and people at genetic risk of developing ALS TABLE 2-1 Diagnostic Delay After Symptom Onset A. First Symptom B. First Symptom C. First Symptom D. First Symptom to GP Visit to First Neuro to Diagnosis to MDC Months • ----5.5 months----> • -----------------11.2 months-----------------> • --------------------------------16.0 months--------------------------------> • ---------------------------------------------19.1 months---------------------------------------------> Mean 5.5 11.2 16.0 19.1 Median 3.0 8.0 13.0 14.6 SD 6.8 8.4 9.5 11.6 Range 0–25 0–35 4–48 8–54 N 31 33 35 35 NOTE: GP = general practitioner; MDC = multidisciplinary care; N = sample size; SD = standard deviation. SOURCE: Galvin et al., 2015. CC BY 4.0. 

54 LIVING WITH ALS FIGURE 2-1 One individual’s lived experience with diagnostic delay. NOTE: MND = motor neuron disease; SOC = standard of care. SOURCE: Babu et al., 2022, used with permission from Medscape, LLC © 2022. enable an individual to start multidisciplinary care sooner,1 which stud- ies have shown can extend survival and improve quality of life (Hogden et al., 2017; Miller et al., 2009b; Ng et al., 2009). As new and poten- tially more effective ALS treatments are approved, earlier diagnosis becomes even more important. Timely diagnosis also allows people liv- ing with ALS and families time to prepare for the emotional trauma that accompanies an ALS diagnosis before the most debilitating symptoms develop (Paganoni et al., 2014). However, research has suggested that individuals have an average of three consultations before receiving an ALS diagnosis, and nearly a quar- ter of ALS cases are first suspected by a physician other than a general neurologist or ALS specialist (Paganoni et al., 2014). Individuals who are Black, or who have a low income, and those who suffer cognitive impair- ment experience longer delays to diagnosis (Carter, 2022). 1 The committee notes that interdisciplinary, rather than multidisciplinary, is the more ac- curate term because interdisciplinary denotes that the various disciplines are coordinated toward a common and coherent approach, while multidisciplinary refers to the addition of the competencies of multiple professionals who stay within the boundaries of their fields (Choi and Pak, 2006). The Veterans Health Administration refers to the ALS interdisciplinary team in its directive on providing ALS care to veterans. The committee has chosen to use multidisciplinary in the report because it is the more widely used term. 

LIVING WITH ALS TODAY 55 BOX 2-4 Diagnostic Delay in ALS “My experience began in 2020 with a little problem with my right hand, and it progressed from there. My diagnosis didn’t come until January of 2023, and it was kind of a shock, because I had a neurologist telling me that it was not ALS. So, when I got the genetic test result back, they told me I had it and that it was a particularly specific type of ALS. A mutation of the C9orf72 gene. It was a bit of a shock for two reasons. One, I had been getting told that it was something else. Ulnar neuropathy, spinal muscular atrophy, or they just didn’t know. The other whammy was that because it is a dominant familial gene, I had to tell my three kids that I had a 50/50 chance of having passed it along to them, and that if they had it they would have a 50/50 chance of passing it on to their kids, my grandkids. It makes a difference to get treatment early, a big difference. Even though the medications out there are not terribly effective, the ear- lier you take them the more effective they are. I am somewhat hobbled by the fact that I’m late to the game on that.” —Paul Seifert, person living with ALS “Jim was diagnosed with ALS the end of August 2013; however, he had symptoms 4 years prior, and he was misdiagnosed, actually. He had gone through long, extensive therapy because he was an avid cyclist, so thinking that it was a pinched nerve his surgeon did a laminectomy on him saying that is what his issue was. He was showing weakness in his lower left leg and riding with one leg practically. And he was bowling also in several leagues and falling all the time but not really understanding what was going on. It took 4 years for them to actually diagnose him.” —Sylvia Clingman, caregiver for a person living with ALS SOURCE: Presented by Paul Seifert and Sylvia Clingman at “Amyo- trophic Lateral Sclerosis: Accelerating Treatments and Improving Quality of Life - #2” on August 23, 2023. Physician Factors in Diagnostic Delay Diagnosing ALS may be challenging because of the rarity with which it is encountered in a nonneurology practice. A typical primary care physi- cian may encounter individuals with ALS a handful of times in their career (Gwathmey et al., 2023). Awareness of the classic ALS presentation of difficulty swallowing and leg weakness may be inadequate, especially as the literature on ALS’s heterogeneous presentation continues to develop. 

56 LIVING WITH ALS If recognized, less common, nonmotor symptoms of ALS, such as execu- tive dysfunction, cognitive decline, and neuropsychiatric symptoms, can improve the physician’s diagnostic decision making. A challenge for primary care clinicians is discerning when a patient with what appears to be an unusual presentation of a common disease, such as a pinched nerve root in the spinal cord, stroke, chronic obstruc- tive pulmonary disease, or carpal tunnel syndrome, actually has ALS. The clinician’s diagnostic skills may be tested further when a patient’s newly emerging ALS is superimposed on an underlying chronic condition such as spinal stenosis. Only 2 years after I was diagnosed did I come to understand how fortunate I was with the diagnostic process. I was diagnosed in exactly 2 months; the average time to diagnose an ALS patient is 11 months. My initial [primary care physician] quickly focused on a neurologic issue based on the description in my email. When the lumbar MRI was negative, he im- mediately arranged for an EMG. The speed with which he ordered the EMG saved months of diagnostic time. He was never alarmist about the process and did not offer speculative diagnoses. Although it was difficult to first hear the term ALS when being diagnosed, I am grateful I didn’t have to suffer with the knowledge that it was suspected throughout the 2-month diagnostic process. With incredible good fortune, both neurologists I saw were ALS spe- cialists at ALS multidisciplinary centers. The first neurologist patiently gave us the time we needed that day, and he did not limit us to a 15-minute appointment when we clearly needed more. The appointment at the second hospital lasted 4 hours; we met with the neurologist, a physical therapist, and a research access nurse who talked with us about opportunities to participate in clinical trials. Having these two appointments 1 week apart was a blessing. By the end of the first appointment, we were too drained to absorb any more information. By the next week, we had the mental and emotional space to speak with the additional members of the [multidisciplinary care] team and start to develop an action and care plan. —Bruce D. Rosenblum, person with lived ALS experience, presented during August 2023 public workshop The ALS Association’s (ALSA’s) thinkALS tool (see Figure 2-2), may help clinicians arrive at a timelier diagnosis (Gwathmey et al., 2023; Yersak et al., 2021). However, broader awareness of the tool’s existence is needed. A challenge will be educating both nonneurology primary care providers and other specialists often consulted during the diagnostic odyssey, including orthopedists, otolaryngologists, rheumatologists, and pulmonary physicians. 

LIVING WITH ALS TODAY 57 FIGURE 2-2 thinkALS diagnostic guide for clinicians. SOURCE: ALSA, 2021. Management of ALS Symptoms Approved medications for ALS (see Chapter 5) do not reverse the dam- age caused by the disease, but may slow progression of symptoms in some individuals. In addition to medications, treatment may include physical, occu- pational, speech, respiratory, and nutritional therapies. Heat or whirlpool therapy may help relieve muscle cramping, and exercise, in moderation, may help maintain muscle strength and function. 

58 LIVING WITH ALS Most people with ALS eventually have trouble breathing as their dia- phragm muscle and the muscles between their ribs that assist with air movement weaken. An individual’s health care team will test their breath- ing regularly and, when necessary, provide mechanical ventilation to assist with breathing, overseen by a pulmonologist and respiratory therapist. In noninvasive ventilation, a small, portable machine delivers air through a face mask or nose insert, while invasive ventilation consists of a tube inserted permanently via surgery to create an opening in the trachea. The home health nurse and family caregivers receive instruction on cleaning and maintaining the tracheostomy tube and how to suction mucus. Physical therapy can address pain, walking mobility, bracing, and equip- ment needs that can help a person living with ALS stay independent. Low- impact exercise can help maintain cardiovascular fitness, muscle strength, and range of motion for as long as possible. Regular exercise can also help improve a person’s sense of well-being. Physical therapy can also include stretching, which can help prevent pain and muscle function. Occupational therapy can help a person living with ALS find ways to remain independent despite hand, arm, and leg weakness. Adaptive equip- ment can help with performing activities of daily living, such as dressing, grooming, eating, and bathing, while braces, a walker, or wheelchair can make it easier for the person to move about without assistance. An occupa- tional therapist can also suggest home modifications to make it easier and safer to move about in one’s home. Speech therapy can help a person living with ALS learn adaptive tech- niques to make their speech more understandable. Speech therapy can also help a person with ALS use other modes of communication, such as a smart phone app, alphabet board, or eye-tracking device. Speech therapists can record a person’s voice for later use with a text-to-speech device if the individual can no longer speak clearly. Nutritional support is important for ensuring that a person living with ALS is eating foods that are easier to swallow and meet their nutritional needs. Many people with ALS take nutritional supplements in the absence of effective medications. Individuals living with ALS who receive care at an ALS multidisci- plinary clinic may receive help from a social worker, who can assist with financial issues, insurance, acquiring needed DME, and getting outside financial assistance. Social workers and psychologists can also provide sup- port for the person living with ALS and their family members. Overlooked and Untreated Symptoms Many secondary symptoms of ALS go unrecognized and untreated. Gas- troparesis, or delayed emptying of the stomach, is an example of a common nonmotor ALS symptom that can cause severe discomfort (Toepfer et al., 

LIVING WITH ALS TODAY 59 1999). Secondary complications related to immobility in ALS may also include deep venous thrombosis (DVT) and bedsores. The prevalence of these complications is not well known, although a recent study using an insurance claims database revealed that DVT occurs three times more fre- quently in persons with a diagnosis of ALS compared to controls without ALS (Kupelian et al., 2023). Although people living with ALS experience many of these symptoms, they report that clinical care does not address them (Nicholson et al., 2018). In addition, clinical trials for therapeutic interventions may not capture data on ALS nonmotor symptoms, limiting understanding of the prevalence and potential effects of therapeutic agents (Goutman and Simmons, 2018). Researchers have proposed several possible reasons for the gap between high symptom prevalence and low rates of treatment, including a lack of high-quality evidence of effectiveness for interventions to treat secondary symptoms, lack of incentive for pharmaceutical companies to study off-label medications approved for more common diseases, and lack of training for neurologists in palliative care interventions (Goutman and Simmons, 2018). Multidisciplinary Care Chapter 4 describes in detail what research has found regarding how individuals living with ALS receive clinical care and the challenges facing the current care system. It also presents the committee’s recommendations for creating a coordinated, sustainable ALS care and research system. In brief, there is a consensus in the field that a team of health care profes- sionals in specialized ALS clinics should provide comprehensive care to an individual living with ALS. This model of multidisciplinary care includes a physician, physical therapist, occupational therapist, speech patholo- gist, dietitian, social worker, respiratory therapist, and nurse case manager (Miller et al., 2009b). Multidisciplinary care in an ALS specialty clinic is the standard of care for all individuals living with ALS, but access to such care is not universal (Galvin et al., 2017; Martin et al., 2017; Miller et al., 2009a; Pascual Martinez et al., 2019). According to ALSA, it is esti- mated that ALSA-certified multidisciplinary care clinics only serve a little more than 40 percent of individuals with ALS (ALSA, 2023). However, it is not known precisely how many of the approximately 30,000 individuals living with ALS are receiving care at an ALS clinic (ALSA, 2023; Galvin et al., 2017; Martin et al., 2017; Pascual Martinez et al., 2019). RACIAL INEQUITIES IN ALS DIAGNOSIS, CARE, AND OUTCOMES Race and ethnicity are associated with the risk of developing ALS, with non-Hispanic White individuals at substantially higher risk than 

60 LIVING WITH ALS non-Hispanic Black, Hispanic, and non-Hispanic individuals of other races and ethnicities (Roberts et al., 2016). The increased risk for non- Hispanic White individuals was only slightly attenuated when account- ing for sex, socioeconomic status and health insurance, or place of birth. However, Hispanic and non-Hispanic Black individuals with ALS died at an earlier age than non-Hispanic White individuals with ALS (see Table 2-2). Research has found there is a three-fold higher rate of tracheostomy and invasive ventilation and lower rates of noninvasive ventilation for Black individuals compared to White individuals living with ALS (Qadri et al., 2019). This may result from Black individuals living with ALS experiencing longer delays in receiving their diagnosis than White people living with ALS, which could lead to Black individuals living with ALS having lower baseline respiratory and functional status compared to White people living with ALS (Brand et al., 2021). While this may explain why Black individuals living with ALS have higher rates of tracheostomy and invasive ventilation, one study found that a greater percentage of people of color living with ALS chose tracheostomy over noninvasive ventilation compared to White people living with ALS (Brockenbrough et al., 2023). One reason suggested for the delay in diagnosing ALS in Black indi- viduals may be the result of some clinicians believing that Black people can- not develop certain diseases, including ALS (Carter, 2021). One study found that “Epistemological biases in scientific research, coupled with biases in public awareness systems, lead to inadequate consideration of who can or cannot contract certain diseases” and that “Gender and racial biases held by medical professional ALS community are written off as unknowns of disease etiology and pathology” (Carter, 2022). The author of that paper also made this comment: Despite [some] Black patients’ learned mistrust of the medical system and often after multiple failed attempts to receive care or answers, ethno- graphic vignettes reveal that Black people with [ALS] and their caregivers continue to fight to be heard by the medical establishment. (Carter, 2022, p. 1) In fact, multiple studies have documented that many physicians dis- count or disbelieve symptoms reported by Black individuals based on the long-discounted myth that there are innate racial differences between Black and White people’s bodies (Hoffman et al., 2016; Hogarth, 2019; Oliver et al., 2014). One study found that Black, Hispanic, and Asian individuals with ALS were more likely to die in an acute care facility versus at home or in hospice 

TABLE 2-2 Adjusted Hazard Ratios (95% confidence intervals [CIs]) for Amyotrophic Lateral Sclerosis (ALS) Mortality by Race/Ethnicity, National Longitudinal Mortality Study, Women and Men Age 25 Years or Older, 1973–2011 Model 2: Further adjusted Model 3: Further adjusted Age at ALS Model 1: for socioeconomic statusa for place of birth and Participants ALS death, y, mean Adjusted for sex, and health insurance, HR presence of a Social Security Race/ethnicity No. Person-years deaths, n (SD) HR (95% CI) (95% CI) number, HR (95% CI) White, 1,593,523 25,304,899 1,129 70.14 (10.98) 1.0 (Reference) 1.0 (Reference) 1.0 (Reference) non-Hispanic Black, 200,280 2,805,086 62 64.63 (12.57) 0.58 (0.46–0.73)b 0.61 (0.48– 0.78)b 0.61 (0.48–0.78)b non-Hispanic Hispanic 216,922 2,819,176 54 68.73 (11.59) 0.56 (0.41–0.76)b 0.60 (0.44–0.82)c 0.64 (0.46–0.88)c Other races, 100,141 1,167,743 20 70.37 (13.00 0.46 (0.28–0.75)c 0.47 (0.29–0.76)c 0.52 (0.31–0.86)d non-Hispanic Missing 45,674 927,977 34 66.25 (10.49) 0.87 (0.62–1.20) 0.93 (0.67–1.29) 0.93 (0.67–1.29) NOTES: a Socioeconomicstatus is measured by (1) income categorized in 5 levels, (2) household income as a percentage of the poverty line in 4 levels, (3) ownership or rental of home, and (4) educational attainment in 5 levels, all at time of survey. b p<0.001. c p<0.01. d p<0.05. CI = confidence interval; HR = hazards ratio; SD = standard deviation. SOURCE: Roberts et al., 2016. 61 

62 LIVING WITH ALS than White individuals with ALS (Goutman et al., 2014). Regarding this finding, the authors of this study stated: Although this may represent preferences such as the aggressiveness of care at end of life in these groups, this could be related to other factors includ- ing lack of access or affordability of home care services or availability of unpaid caregivers that prevent patients from staying at home at the end of life. (Goutman et al., 2014, p. 3) This finding is important given that not dying at home is generally associated with not dying peacefully (Mandler et al., 2001). In addition, where someone dies has been proposed as a quality measure for end-of-life care for all diseases (Gruneir et al., 2007). CONCLUDING COMMENTS As outlined in the rest of this report, making ALS a livable disease will ultimately require many additional years of research. However, as this chapter makes clear, there are steps to take now toward this goal. Minimiz- ing the many day-to-day challenges confronting people living with ALS, the difficulty obtaining the necessary care and services, the emotional and mental health toll of having a progressively disabling and invariably fatal disease, and the economic burden that can devastate a family’s finances, would be a big step toward making ALS a livable disease. Diagnostic delay is a major challenge the ALS clinical community must address to improve the duration and quality of life for individuals living with ALS. This will require better educating primary care physicians and general neurologists about this disease. In addition, there are many often overlooked secondary symptoms of ALS that require additional education among clinicians and attention in individuals living with ALS. Finally, guaranteeing equitable and affordable access to high-quality care for all individuals, regardless of socioeconomic status or geographic location, is essential to making ALS a livable disease. REFERENCES Alquati, S., L. Ghirotto, L. De Panfilis, C. Autelitano, E. Bertocchi, G. Artioli, F. Sireci, S. Tanzi, and S. Sacchi. 2022. Negotiating the beginning of care: A grounded theory study of health services for amyotrophic lateral sclerosis. Brain Sci 12(12). ALSA (ALS Assocation). 2021. thinkALS™ for faster diagnosis. https://www.ALS.org/thinkALS (accessed April 3, 2024). ALSA. 2023. ALS around the globe: Improved access to ALS multidisciplinary care— the science of where. https://www.als.org/blog/als-around-globe-improved-access-als- multidisciplinary-care-science-where (accessed April 3, 2024). 

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