A Message of Hope: The Diagnosis
Many neurologists continue to rely on the verdict stated by Dr. Jean-Martin Charcot in 1869: Amyotrophic Lateral Sclerosis/Motor Neurone Disease is fatal with no cure and no treatment. The devastation that message inflicts is in some ways worse than the disease itself. Receiving a death sentence makes it almost impossible for the patient to retain a sense of hope; furthermore, it creates a 'why bother coming to the clinic at all' mentality. These consequences are as detrimental to research efforts as they are to individuals: without a sufficient patient population, clinical trials sometimes close for lack of research subjects, while the immediate needs of ALS/MND patients are not fulfilled. Reframing the diagnosis is an important, essential task.
Initial Visit and Diagnosis - A Critical Moment in Time
By the time a person arrives at the neurologist's office or an ALS/MND clinic, he or she has probably seen two or three different doctors who suspect ALS/MND but have not given a definitive diagnosis. After the tests and evaluations are completed and the diagnosis is clear, what happens next makes the difference between a patient who maintains a sense of hope and purpose and one who becomes depressed and dejected.
Too often, patients have heard the following words; “I’m sorry you have ALS/MND. This is a fatal disease for which there is no cure. Most patients live from two to four years. Go home and get your papers in order.” Many of the patients we’ve met describe their diagnosis using this exact phraseology. It's as if many neurologists worldwide have attended an identical seminar and received this description, which hasn't changed in over one hundred and fifty years.
Such a message deprives a patient of hope and persists forever, even if the prognosis ends up being different from the message. Many patients live years beyond the two to four year expectation. Further, no doctor can predict the future. Who knows when the right medication will surface? Researchers are hard at work untangling the mystery of ALS/MND. New genes are identified that are involved in the disease, and treatment recommendations continually improve. Ten years ago exercise was considered to be counterproductive; today, it is encouraged as a critical way to maintain muscle mass. Clinical trials have grown tenfold in the past five years, from 100 to 1000 at any given time. With all of these reasons to feel encouraged and positive, a new diagnosis delivery should be established that reflects current knowledge and encompasses hope and compassion.
A New Conversation
A new kind of diagnosis could sound something like this: “You have a serious neurological disease called Amyotrophic Lateral Sclerosis, also known as Lou Gehrig’s Disease and Motor Neurone Disease. We don’t yet know the cause of this disease, but it affects the voluntary muscles of the body. Your voice is slurry and your legs are not as strong as they once were. But we can give you medications and supports that can help minimize the symptoms. There’s a lot you can do to help yourself. Exercise and nutrition help maintain muscle strength. Some new medications will help your speech and mood. With our excellent support staff and therapists to assist you, there is reason to be encouraged. Together we can help you live a full, productive life and maintain a sense of hope for your future.”
Of course, this is not the only or even the best way to give an ALS/MND diagnosis, but it is certainly much more hopeful and encouraging for both the patient and the neurologist. No one wants to be the bearer of bad news, but it is this very issue that keeps some patients traveling from doctor to doctor until the symptoms become so pronounced that the diagnosis is obvious to any knowledgeable observer. The very best approach to delivering a message that no one wants to give or receive is to include hope, compassion and reality.
Not only must the diagnosis delivery be changed, but the timing of the diagnosis needs to be done much earlier, for both the patient's and the neurologist's well-being. Because most clinical trials prefer to enroll patients in the early stage of the disease, the opportunity to enter a trial is diminished with each year that symptoms go undiagnosed.
By the time the diagnosis is given - particularly if it's over two years since the advent of symptoms - it's often too late for clinical trial participation.
Not only is the general public lacking information about ALS/MND, but surprisingly enough, the general medical community is also not well-informed. Patients are sometimes sent by their internist to ENT specialists or to hand surgeons for carpel tunnel surgery long before they see a neurologist. Through greater public education and awareness, early diagnosis can become a reality.