It is unfortunate that the prevailing view on chronic illness is that it simply “happens” to someone, and that the best one can do is to cope with the difficulties attached, comply with treatment, and hope for the best.
This is perhaps exacerbated by medical language; a patient is said to have been “diagnosed with” a condition — a decidedly passive position. In addition, data on treatment viability and prognosis are determined based on research, with little input from patients themselves.
On Rare Disease Advisor, we have sought to bring to the forefront the voices of patients living with many of the rare diseases featured on our website. We have been able to feature the inspiring stories of patients who have thrived in life despite their condition and who are turning their pain into action.
The common denominator in these stories is a determination to not let their disease dictate the way they should live their lives. This is an area worthy of further study — beyond asking patients about how a chronic disease impacts their quality of life, perhaps we should also be asking them how they intend to flourish despite the limitations imposed by the diagnosis of a rare disease.
Hopes and Dreams in the Context of DMD
In the Journal of Patient-Reported Outcomes, Schwartz and colleagues published a study in which they sought to understand patient life aspirations in the context of Duchenne muscular dystrophy (DMD).
DMD is characterized by progressive muscle deterioration, resulting in ambulatory limitations and eventually causing respiratory problems. At 3 to 5 years of age, patients tend to present with abnormal gait and lower limb dysfunction. Most patients require a wheelchair by their teenage years. Mortality typically occurs in the third or fourth decade of life.
Read more about DMD etiology
“While other children are typically focusing on excelling in sports, music, and/or academics, younger DMD patients are more often coping with the loss of important areas of function and suffer from a higher prevalence of cognitive impairment and executive functioning problems,” Schwartz et al wrote.
These problems become more prominent the older patients become. While adult peers may be focused on launching careers and starting families, patients with DMD struggle with limitations that may put these ambitions out of reach. This means that patients with DMD have to wrestle with decades of defining life on their own terms, as opposed to what is expected of them by society.
We can certainly leave things at that — that patients with DMD are unable to fulfill many of life’s aspirations due to the progressive nature of their disease. However, we have the choice to go further and ask: given the limitations of their disease, what other life aspirations do patients with DMD have? How can we best support them in reaching for their dreams?
Schwartz and colleagues created an online questionnaire consisting of both open-ended and closed-ended questions. Among the questions included were, “If you could make 3 wishes, any 3 wishes in the whole world, what would they be?” In addition, the questionnaire included questions on goals and quality of life, asking participants to define these on their own terms.
This study included 285 participants with DMD. Among the most common “wishes” expressed by the participants were related to “achievement,” “health issues,” “travel,” “DMD-related goals,” “material acquisitions,” and “work/unemployment.”
Among the most prominent “goals” expressed by participants were related to “staying in their current home,” “preparing loved ones,” “healthcare arrangements,” “reducing help,” “living with discomfort,” “reducing doctor time,” and “help with health.” In terms of “quality of life,” participants were most likely to mention points relating to “family/friends” and “contentment/personal growth.”
“Our study suggests that people with DMD have aspirations that differ from their peers in several important ways,” the authors of the study wrote. “Both open-text and closed-ended data, in both unadjusted and adjusted analyses, generally suggested that people with DMD were more focused on health, healthcare, and independence than their peers.”
In Health and Quality of Life Outcomes, Uttley and colleagues conducted a similar study on quality of life themes in patients with DMD and their carers.
They discovered that patients with DMD have a diverse view on what constitutes quality of life, including physical abilities (activities of daily living, sleep, pain), social participation (friends, relationships, work), psychological impact (coping, communication, depression), well-being (independence, energy, dignity), and other aspects (such as career burden, impact on wider family, wheelchair accessibility, treatment effects, etc).
“A large number of themes and trends in the data were identified by the authors of the included studies as being relevant to the [quality of life] of people with DMD, their carers and their families,” Uttley et al wrote. “The physical, psychological, social and well-being domains and each of their subdomains are populated by several themes, many of which are commonly already known about DMD.”
Read more about DMD treatment
In other words, patients with DMD report a wide range of factors that constitute “quality of life” and “life aspirations.” At a fundamental level, patients with DMD want to learn to live within the limitations of their disease, but refuse to be bound by them. Like the general public, they carry aspirations of career progression, travel, relationships, and achieving personal growth.
As physicians, we should encourage optimism and the courage to make the most out of an unenviable situation. Patients should have unrestricted access to counselors, psychologists, and life coaches to ensure that they feel thoroughly supported in achieving a life that is meaningful and purposeful to them.
Schwartz CE, Biletch E, Stuart RBB, Rapkin BD. Patient life aspirations in the context of Duchenne muscular dystrophy: a mixed-methods case-control study. J Patient Rep Outcomes. Published online September 14, 2022. doi:10.1186/s41687-022-00500-8
Uttley L, Carlton J, Woods HB, Brazier J. A review of quality of life themes in Duchenne muscular dystrophy for patients and carers. Health Qual Life Outcomes. Published online December 19, 2018. doi:10.1186/s12955-018-1062-0