When clinicians speak about “health-related quality of life,” they are trying to quantify something that is quite unquantifiable; how can the grief upon receiving a life-altering diagnosis, or the burden of lifelong hospital visits, be justifiably measured?  

Nevertheless, efforts to understand the disease and treatment burden that a patient carries is a step in the right direction. It was only a few decades ago that “quality of life” held very little clinical meaning. The logic that many doctors of past eras held onto was that a patient who still had breath in their lungs ought to be grateful, and that the burden of living with a chronic illness is simply a fact of life. 

As life expectancy increases and the mood of our times shifts towards maximizing happiness in the short interval between life and death, physicians are increasingly paying attention to how the diagnosis of a rare illness can impair one’s psychological well-being. In addition, physicians are also increasingly concerned about the extent to which the burden of care falls on one’s family members, thus compromising their quality of life too.

In recent years, clinicians and researchers have been attempting to create questionnaires and scoring systems that can help them gauge how well a patient is coping with a chronic illness. At a time when consultation waiting times are longer and longer, physicians do not have the luxury of conducting extended interviews with their patients. Nonetheless, it is vital that the patient experience is understood in a holistic manner, as it may dictate how physicians proceed with regards to care. 

Resilience in Systemic Mastocytosis 

As published in the European Journal of Oncology Nursing, Levedahl and colleagues conducted a poignant study on the challenges of living with systemic mastocytosis. Rarely do we consider clinical studies to be “poignant,” but the authors of this study have managed to conduct one that is nuanced, respectful, and deeply insightful. 

There are 2 main subtypes of systemic mastocytosis: indolent and advanced. While individuals with indolent systemic mastocytosis can expect to have a fairly normal life expectancy, patients with advanced systemic mastocytosis require antitumoral treatment and have an estimated survival of only 2 to 4 years. 

Read more about systemic mastocytosis etiology 

Levedahl and colleagues recruited patients in Sweden who had a diagnosis of systemic mastocytosis as verified by a bone marrow biopsy. They excluded patients with cognitive impairment, substance abuse, or severe comorbidity. A total of 16 patients agreed to an interview about how they deal with the disease, either by phone or in-person. 

The Swedish researchers intentionally created an interview format that was semi-structured and filled with open-ended, probing questions. They asked participants about how the disease affected their lives, starting from the period between the onset of symptoms and diagnosis. Each interview lasted between 25 to 90 minutes; the median time was 60 minutes. Transcripts were kept and carefully analyzed. 

Read more about systemic mastocytosis treatment 

The responses that the researchers received were remarkable in their breadth and honesty. In terms of the symptomatic impact of this condition, responders reported the feeling of losing control of one’s body as a trigger for a number of negative emotions: embarrassment, uncertainty, and a loss of self-confidence. In addition, patients described the rashes commonly associated with systemic mastocytosis as being cosmetically unappealing and a constant reminder of the disease. 

In terms of treatment, participants expressed gratitude that some of the symptoms could be alleviated with modern therapy. However, the lifelong nature of treatment casts a shadow over their lives; patients have no idea how long-term treatment would affect their future prospects, and whether they would have to contend with adverse treatment effects for the rest of their lives. 

Another huge battle for patients with systemic mastocytosis is that the disease is so rare that it is hardly known outside the medical world. This means that patients are forced to become “involuntary experts,” having to explain the disease to those close to them.

Acceptance and Coping Strategies

One of the biggest challenges is for patients to accept their condition and try to move on with their lives. Participants described not wanting the disease to define them and trying to carve out a life worth living. Different individuals have different coping strategies; some seek therapy, others discover new hobbies. Many patients described having to take the disease one day at a time and hope for the best. 

How do we as clinicians help patients feel supported and seen? In the Orphanet Journal of Rare Diseases, Schmidt and colleagues conducted a study to understand the quality of life of patients with systemic mastocytosis. They discovered that education is an important means to improving health-related quality of life; patients who have a better grasp of their disease appear to have a more optimistic viewpoint on living life with a chronic condition. 

“Our data shows that even slight improvements in the patient’s level of information can have a positive effect on their quality of life, further highlighting the importance of gaining more knowledge on rare and incompletely understood diseases and communicating these insights to patients,” they wrote. 

Until a cure is found, the push and pull of emotions, relapses, and life impediments will continue. In that time, we must continue to support our patients in their pursuit of happiness and wholeness in the face of so devastating a disease. 


Levedahl KH, Nilsson A, Ungerstedt J, Hedström M. Living with systemic mastocytosis: balancing between vulnerability and resilience: a qualitative studyEur J Oncol Nurs. 2022;60:102172. doi:10.1016/j.ejon.2022.102172

Schmidt TJ, Sellin J, Molderings GJ, Conrad R, Mücke M. Health-related quality of life and health literacy in patients with systemic mastocytosis and mast cell activation syndromeOrphanet J Rare Dis. 2022;17(1):295. doi:10.1186/s13023-022-02439-x