Time and again, studies have shown that a diagnosis of an incurable, progressive condition such as neuromyelitis optica spectrum disorder (NMOSD) can bring about significant distress.
From medical school, practitioners are taught to view the facts of a case with a sort of distance. This is, of course, necessary for a number of reasons, chiefly to protect the ability of practitioners to administer consistent, evidence-based care in the face of tragic circumstances.
Nevertheless, healthcare professionals working in the field of rare diseases will be familiar with the personal anguish often demonstrated by both patients and their families. When I was practicing as a doctor, I remember the dreaded close-door conversations that take place when one needs to break bad news to a patient. They are invariably difficult.
It is entirely right that more and more studies are attempting to characterize the patient experience when confronted with the diagnosis of a rare disease. As a medical community, we need to be better at expressing empathy and hope where possible.
Pain, Bewilderment, and Confusion
In Frontiers in Neurology, Delgado-Garcia and colleagues conducted a study to better understand the experience of patients diagnosed with NMOSD throughout the course of their disease. The goal of this study was to explore how patients navigate the early stages of this disease.
Read more about NMOSD etiology
NMOSD differs from most chronic, progressive illnesses in that it appears to be clinically severe from its very onset. For example, the most common initial complaints include severe paralysis and ocular pain, accompanied with the loss of vision. In addition, patients may experience cranial nerve dysfunctions, hearing loss, bladder and bowel dysfunction, and acute respiratory failure.
The caveat is that the initial presentation of NMOSD can be highly heterogeneous, meaning that physicians can oftentimes suspect alternative diagnoses depending on the most prominent symptoms on display. For example, multiple sclerosis is typically high on the list of differential diagnoses, owing to the large number of overlapping symptoms. (NMOSD was once considered a subtype of multiple sclerosis).
Delgado-Garcia et al developed a survey with rareLife Solutions, Inc. in order to understand the patient experience from initial diagnosis to long-term treatment. A total of 151 patients with NMOSD were asked to fill in the survey. The items of the survey included questions on their psychological reactions; in addition, 6 free-form questions were included to allow patients to detail their personal experiences without constraint.
The survey found that 73% of participants described their first attack as serious, while 5% described it as life-threatening. A total of 94% of patients reported visual disturbances, 71% experienced loss of peripheral vision, and 61% experienced loss of central vision. A staggering 83% of patients described experiencing pain, while 81% described experiencing fatigue.
In addition, participants typically did not have a favorable initial experience with the healthcare system. Among the words used to describe their first encounter were “scared”, “bewildered,” and “frustrated.” Around 71% of patients did not believe that their initial contact with a medical professional was “helpful.” Under 10% of participants described their initial contact as “hopeful.”
“Almost all (148/151) patients provided brief narrative accounts of their initial experiences, coping strategies, and emotional responses to the sudden challenges of their attack,” the authors of the study wrote.
Many patients with NMOSD transitioned from being seen by a general practitioner to a NMOSD specialist; more than 50% of patients described feeling relieved once the transition happened. Nevertheless, some patients described feelings of unhappiness and a sense of being lost. A patient who was soon to be married described bewilderment and confusion about whether the diagnosis would impact his ability to have children or ambulate.
“After a period of mourning their old lives and accepting the permanent losses, patients frequently began adjusting to a “new normal,” Delgado-Garcia and colleagues wrote. “When asked whether patients felt confident that they can now “live your best life,” the responses were more positive than negative, although many patients still struggle with a life of limitations.”
Coping With Permanent Change
A separate study conducted by Ayzernberg and colleagues published in Neurology, Neuroimmunology & Neuroinflammation reported that around a third of patients diagnosed with NMOSD have depression. In addition, nearly 8 in 10 patients suffer from chronic pain, the most common being neuropathic in nature.
“Compared with pain, depression was less often adequately treated. Twenty-nine percent of those with moderate to severe depression received antidepressants,” Ayzernberg et al wrote. “The actual number of patients receiving adequate antidepressant pharmacotherapy is probably even lower, as at least in some of them, antidepressants were administered as a part of pain therapy.”
These studies beg the question — how do we begin to tackle the huge psychological burden experienced by patients with NMOSD? It should not take a specific survey for these experiences to come to light.
Read more about NMOSD treatment
As the saying goes, “the best defense is a good offense.” In the context of NMOSD, physicians should make it a habit to ask questions relating to mental health unprompted, and to offer unequivocal support. By attempting to understand the close relationship between chronic pain and depression, physicians can play a crucial role in offering psychological help and improve patients’ outlook on life.
Delgado-Garcia G, Lapidus S, Talero R, Levy M. The patient journey with NMOSD: from initial diagnosis to chronic condition. Front Neurol. Published online September 6, 2022. doi:10.3389/fneur.2022.966428
Ayzenberg I, Richter D, Henke E, et al. Pain, depression, and quality of life in neuromyelitis optica spectrum disorder: a cross-sectional study of 166 AQP4 antibody-seropositive patients. Neurol Neuroimmunol Neuroinflamm. Published online April 20, 2021. doi:10.1212/NXI.0000000000000985