Presenting a diagnosis of amyotrophic lateral sclerosis (ALS) is one of the most difficult tasks that a neurologist may have to undertake. Despite the tragic quality of the news, experts in ALS care are exhorting fellow neurologists not to give up on patients in whom ALS is diagnosed.
The disease can be managed and patients can achieve an acceptable quality of life (QOL)—and even be made to feel purposeful—as they live with the illness. "The important thing to remember is that although ALS can't be cured, it can be managed. If we can offer patients hope and assure them that we will work closely with them to manage the complications that arise and help them through a very confusing and complicated pathway, it will be appreciated," remarked Zachary Simmons, MD, professor of neurology and director of the Neuromuscular Program and ALS Clinic at Penn State Milton S. Hershey Medical Center in Hershey, Pennsylvania.
BREAKING THE NEWS
Delivering the diagnosis is particularly difficult, but guidelines exist to help office-based physicians meet the challenge. The practice parameter of the American Academy of Neurology (AAN) on care of the patient with ALS1 encourages physicians to:
- Schedule ample time in a comfortable, quiet atmosphere to present the diagnosis in person to the patient and the patient's caregiver or other support person in a direct but compassionate way.
- Inform the patient, in plain language, that the disease is incurable and progressive but that the complications are treatable and that the prognosis is variable.
- Be open to the patient's desire to seek a second opinion.
- Reassure the patient that he or she will be cared for and that all efforts will be made to maintain function.
- Evaluate what the patient already knows about ALS and how much he wants to know at that time, and direct the patient to information resources and support services.
- Encourage the patient to participate in clinical trials.
"I think 'breaking the news'—and whether it has been done well or badly—is something the patient will remember for the rest of his life. Most patients will tell you that it is a relief to have a diagnosis even if it is not a good one," Simmons remarked. "The challenge is being honest without taking away all hope. The typical worst-case scenario is to be told, 'You have ALS. This is a fatal neurological disorder. There is nothing I can do. You need to go home and get your affairs in order.'"
A similar sentiment was related by Walter G. Bradley, DM, FRCP, professor and chairman of the Department of Neurology at the University of Miami Miller School of Medicine. "Having no effective medications to arrest the disease or get back lost function makes ALS a very depressing subject even for professionals," he explained, which may lead some general neurologists to appear callous in presenting the diagnosis. "I've heard this for 40 years now from patients: 'The neurologist I first saw said you've got a progressive disease; you're going to be dead in 18 months. Go home, put your affairs in order, and enjoy what little life you have left.' It is a very callous and self-protective approach for a neurologist who feels inadequate. But we all feel inadequate in the face of this disease," Bradley said.
"In presenting the diagnosis, you need to give the patient and family time to understand," Bradley, a coauthor of the AAN ALS practice parameter, continued. "You can't do this at the end of a 20-minute follow-up. You have to schedule another half to 1 hour to meet with the family a week or so after you've had to face them with the diagnosis. At this time, it is important to give the patient access to all the information that is available: the Web sites, publications, etc."
Office-based neurologists who have a dark view of how to manage patients with ALS can find inspiration in gains made by specialized ALS centers. "It is clear that 2 management mechanisms of ALS alter longevity and QOL in affected patients. These are nutritional care with feeding gastrostomy tube placement when swallowing becomes inadequate and respiratory function support with noninva-sive positive pressure ventilation [NPPV]," noted Bradley. "Both interventions improve function."
Simmons stressed this point as well. "You do improve QOL using noninvasive ventilatory support because sleep quality improves. Patients have more energy; they sleep better. They survive longer but with an improved QOL," Simmons said. He added that, although the literature is soft on whether a gastrostomy tube improves QOL, his observation—which was echoed by Bradley—is that improving nutrition and hydration is of benefit. "Patients have an overall feeling of well- being. They don't have to deal with swallowing problems and the choking and gagging that comes with bulbar dysfunction," said Simmons. Bradley added that ventilatory support and feeding tubes probably enhance function and survival simply because the patient is getting adequate nutrition and oxygen. Lack of these probably plays a role in acceleration of disease progression, he said.
A study by Traynor and colleagues2 showed that an aggressive multidisciplinary care model, which is generally provided at ALS clinics, improves outcomes. The study, which looked at comprehensive multidisciplinary ALS clinics in Ireland, found that compared with the 1-year mortality rate seen among patients receiving care from general neurology practices, the 1-year mortality rate in patients attending ALS clinics was reduced by nearly 30%.3
The study by Bradley and colleagues, which reviewed how well the AAN ALS care practice parameter had been adopted, found that the overall standard of care of patients with ALS had improved since the parameter was published in 1999.3 The study was based on evaluation of information in the ALS Clinical Assessment, Research, and Education (CARE) database, which primarily contains information on patients attending ALS clinics. Bradley and coauthors offered this up as a caveat: their study elucidates how well ALS clinics in the United States are serving patients with ALS, but the quality of care in the general community is undocumented. Bradley commented that, because most specialists in ALS care came from general neurology practices and remember a time before the advent of ALS clinics, they have a good idea of what goes on in general practice and know that it is not the multidisciplinary care that is provided by specialized clinics.
"There are 3 reasons why specialized ALS centers are able to provide better care," said Bradley. "The first is the multidisciplinary team approach. The second is that, by and large, the neurologists who run specialized centers have proved that they are empathetic to persons with ALS." Bradley reiterated that the third factor, which he stressed was significant, was the more common use of gastrostomy tubes and ventilatory support in the specialized clinic setting.
According to Bradley, ALS centers are far more proactive in providing function- and life-sustaining interventions than general neurology practices. He suggested that those working in general neurology practices should examine what they can adopt from the specialty care model because many patients do not have access—whether because of geography or other factors—to specialized clinics.