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Living with systemic mastocytosis: Balancing between vulnerability and resilience: A qualitative study

Open AccessPublished:July 06, 2022DOI:https://doi.org/10.1016/j.ejon.2022.102172

      Highlights

      • Systemic mastocytosis is a rare group of haematological malignancies.
      • Everyday life with systemic mastocytosis involves multiple challenges.
      • Gastrointestinal problems are described as particularly troublesome.
      • Lack of knowledge creates obstacles in getting access to healthcare.
      • Coordinated multidisciplinary competence is needed to optimise patient care.

      Abstract

      Purpose

      Systemic mastocytosis is a rare group of haematological malignancies with heterogeneous symptoms from various organs, and an overall survival that ranges from normal for indolent SM (ISM) to 2–4 years for advanced SM subtypes (Adv SM). The purpose of this study was to describe the experiences of everyday life among persons diagnosed with ISM or Adv SM.

      Methods

      In this qualitative study, data were collected through purposive sampling and semi-structured interviews with 16 participants diagnosed with ISM (n = 9) or Adv SM (n = 7). Data were subsequently analysed with content analysis.

      Results

      Three main categories were identified. The persistent presence of the disease includes findings of how the symptoms affected the participants and how they handled its limitations and the adaptions and medication management required. Struggling against ignorance illustrates contacts with both healthcare professionals and strangers. The participants described being forced to be experts on SM due to a general lack of knowledge. An illness or wellness perspective encompasses the participants’ feelings of vulnerability and alienation, but also how various strategies were used to gain emotional control.

      Conclusions

      The disease has considerable impact on everyday life, with constant efforts required to manage symptoms and medication side effects. The complexity and rarity of the disease complicated relationships with healthcare professionals and contributed to feelings of marginalisation and alienation. The participants described feeling vulnerable, but used a multitude of strategies in their striving for resilience. Trusting relationships with healthcare professionals, family members and friends promoted a wellness perspective.

      Keywords

      1. Introduction

      Systemic mastocytosis (SM) is a rare heterogeneous group of myeloid haematological malignancies driven by a point mutation D816V in the KIT gene, rendering mast cells constitutively activated and proliferating. Clonal activated mast cells accumulate in various organs and tissues, causing symptoms which vary with the organ of infiltration, e.g., allergic reactions including anaphylaxis, rashes, palpitations, diarrhoea, malabsorption and osteoporosis (
      • Sokol H.
      • Georgin-Lavialle S.
      • Grandpeix-Guyodo C.
      • Canioni D.
      • Barete S.
      • Dubreuil P.
      • Lortholary O.
      • Beaugerie L.
      • Hermine O.
      Gastrointestinal involvement and manifestations in systemic mastocytosis.
      ;
      • Pardanani A.
      Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
      ) or neuropsychological symptoms with depression and cognitive impairment (
      • Hermine O.
      • Lortholary O.
      • Leventhal P.S.
      • Catteau A.
      • Soppelsa F.
      • Baude C.
      • Cohen-Akenine A.
      • Palmérini F.
      • Hanssens K.
      • Yang Y.
      • Sobol H.
      • Fraytag S.
      • Ghez D.
      • Suarez F.
      • Barete S.
      • Casassus P.
      • Sans B.
      • Arock M.
      • Kinet J.P.
      • Dubreuil P.
      • Moussy A.
      Case-control cohort study of patients' perceptions of disability in mastocytosis.
      ;
      • Vermeiren M.R.
      • Kranenburg L.W.
      • van Daele P.L.A.
      • Gerth van Wijk R.
      • Hermans M.A.W.
      Psychological functioning and quality of life in patients with mastocytosis: a cross-sectional study.
      ). In brief, there are two major subtypes of SM: indolent SM (ISM) and advanced SM (Adv SM). People with ISM have a normal life expectancy (
      • Lim K.H.
      • Tefferi A.
      • Lasho T.L.
      • Finke C.
      • Patnaik M.
      • Butterfield J.H.
      • McClure R.F.
      • Li C.Y.
      • Pardanani A.
      Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors.
      ), but may have light to severe mast cell activation symptoms. Adv SM encompasses several subtypes that all require antitumoral treatment. Adv SM patients frequently have massive bone marrow mast cell infiltration causing cytopenia and infiltration in liver, spleen and lymph nodes causing weight loss and fatigue. They have an estimated overall survival of 2–4 years (
      • Lim K.H.
      • Tefferi A.
      • Lasho T.L.
      • Finke C.
      • Patnaik M.
      • Butterfield J.H.
      • McClure R.F.
      • Li C.Y.
      • Pardanani A.
      Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors.
      ;
      • Pardanani A.
      Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
      ).
      Studies from Denmark and the Netherlands estimate the incidence of SM to be 1 per 100,000 persons (
      • van Doormaal J.J.
      • Arends S.
      • Brunekreeft K.L.
      • van der Wal V.B.
      • Sietsma J.
      • van Voorst Vader P.C.
      • Oude Elberink J.N.
      • Kluin-Nelemans J.C.
      • van der Veer E.
      • de Monchy J.G.
      Prevalence of indolent systemic mastocytosis in a Dutch region.
      ;
      • Cohen S.S.
      • Skovbo S.
      • Vestergaard H.
      • Kristensen T.
      • Møller M.
      • Bindslev-Jensen C.
      • Fryzek J.P.
      • Broesby-Olsen S.
      Epidemiology of systemic mastocytosis in Denmark.
      ). There is a significant diagnostic delay and some patients have suffered for many years, even decades, before getting the correct diagnosis (
      • Nowak A.
      • Gibbs B.F.
      • Amon U.
      Pre-inpatient evaluation on quality and impact of care in systemic mastocytosis and the influence of hospital stay periods from the perspective of patients: a pilot study.
      ;
      • Gülen T.
      • Hägglund H.
      • Dahlén S.-E.
      • Sander B.
      • Dahlén B.
      • Nilsson G.
      Flushing, fatigue, and recurrent anaphylaxis: a delayed diagnosis of mastocytosis.
      ;
      • Jensen B.
      • Broesby-Olsen S.
      • Bindslev-Jensen C.
      • Nielsen D.S.
      Everyday life and mastocytosis from a patient perspective-a qualitative study.
      ). In a cohort study including 124 patients,
      • Hermans M.A.W.
      • Rietveld M.J.A.
      • van Laar J.A.M.
      • Dalm V.A.S.H.
      • Verburg M.
      • Pasmans S.G.M.A.
      • Gerth van Wijk R.
      • van Hagen P.M.
      • van Daele P.L.A.
      Systemic mastocytosis: a cohort study on clinical characteristics of 136 patients in a large tertiary centre.
      reported an average time of 8.1 years (range 0–49) from first symptoms to diagnosis. This is likely due to the complex and heterogenous symptoms and rare nature of SM, requiring multi-professional investigation and care (
      • Valent P.
      • Akin C.
      • Gleixner K.V.
      • Sperr W.R.
      • Reiter A.
      • Arock M.
      • Triggiani M.
      Multidisciplinary challenges in mastocytosis and how to address with personalized medicine approaches.
      ).
      Symptoms and signs frequently arise between the ages 20 and 50 years, but the diagnosis is most commonly confirmed at age 40–60 years (
      • Gülen T.
      • Hägglund H.
      • Dahlén S.-E.
      • Nilsson G.
      Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease.
      ). There is a female predominance in ISM (
      • Cohen S.S.
      • Skovbo S.
      • Vestergaard H.
      • Kristensen T.
      • Møller M.
      • Bindslev-Jensen C.
      • Fryzek J.P.
      • Broesby-Olsen S.
      Epidemiology of systemic mastocytosis in Denmark.
      ;
      • Trizuljak J.
      • Sperr W.R.
      • Nekvindová L.
      • Elberink H.O.
      • Gleixner K.V.
      • Gorska A.
      • Lange M.
      • Hartmann K.
      • Illerhaus A.
      • Bonifacio M.
      • Perkins C.
      • Elena C.
      • Malcovati L.
      • Fortina A.B.
      • Shoumariyeh K.
      • Jawhar M.
      • Zanotti R.
      • Bonadonna P.
      • Caroppo F.
      • Zink A.
      • Triggiani M.
      • Parente R.
      • von Bubnoff N.
      • Yavuz A.S.
      • Hägglund H.
      • Mattsson M.
      • Panse J.
      • Jäkel N.
      • Kilbertus A.
      • Hermine O.
      • Arock M.
      • Fuchs D.
      • Sabato V.
      • Brockow K.
      • Bretterklieber A.
      • Niedoszytko M.
      • van Anrooij B.
      • Reiter A.
      • Gotlib J.
      • Kluin-Nelemans H.C.
      • Mayer J.
      • Doubek M.
      • Valent P.
      Clinical features and survival of patients with indolent systemic mastocytosis defined by the updated WHO classification.
      ;
      • Fuchs D.
      • Kilbertus A.
      • Kofler K.
      • von Bubnoff N.
      • Shoumariyeh K.
      • Zanotti R.
      • Bonadonna P.
      • Scaffidi L.
      • Doubek M.
      • Elberink H.O.
      • Span L.F.R.
      • Hermine O.
      • Elena C.
      • Benvenuti P.
      • Yavuz A.S.
      • Brockow K.
      • Zink A.
      • Aberer E.
      • Gorska A.
      • Romantowski J.
      • Hadzijusufovic E.
      • Fortina A.B.
      • Caroppo F.
      • Perkins C.
      • Illerhaus A.
      • Panse J.
      • Vucinic V.
      • Jawhar M.
      • Sabato V.
      • Triggiani M.
      • Parente R.
      • Bergström A.
      • Breynaert C.
      • Gotlib J.
      • Reiter A.
      • Hartmann K.
      • Niedoszytko M.
      • Arock M.
      • Kluin-Nelemans H.C.
      • Sperr W.R.
      • Greul R.
      • Valent P.
      Scoring the risk of having systemic mastocytosis in adult patients with mastocytosis in the skin.
      ) whereas slightly more males are affected by Adv SM (
      • Kluin-Nelemans H.C.
      • Jawhar M.
      • Reiter A.
      • van Anrooij B.
      • Gotlib J.
      • Hartmann K.
      • Illerhaus A.
      • Oude Elberink H.N.G.
      • Gorska A.
      • Niedoszytko M.
      • Lange M.
      • Scaffidi L.
      • Zanotti R.
      • Bonadonna P.
      • Perkins C.
      • Elena C.
      • Malcovati L.
      • Shoumariyeh K.
      • von Bubnoff N.
      • Müller S.
      • Triggiani M.
      • Parente R.
      • Schwaab J.
      • Kundi M.
      • Fortina A.B.
      • Caroppo F.
      • Brockow K.
      • Zink A.
      • Fuchs D.
      • Angelova-Fischer I.
      • Yavuz A.S.
      • Doubek M.
      • Mattsson M.
      • Hagglund H.
      • Panse J.
      • Simonowski A.
      • Sabato V.
      • Schug T.
      • Jentzsch M.
      • Breynaert C.
      • Várkonyi J.
      • Kennedy V.
      • Hermine O.
      • Rossignol J.
      • Arock M.
      • Valent P.
      • Sperr W.R.
      Cytogenetic and molecular aberrations and worse outcome for male patients in systemic mastocytosis.
      ).
      In ISM, the treatment aim is to reduce mediator-related symptoms, e.g., diarrhoea, pruritus and anaphylaxis, to achieve symptom control and improve quality of life (QoL). Treatment options include antihistamine types 1 and 2, leukotriene inhibitors, sodium cromolyn, bisphosphonates and hypo-sensitisation therapy, but it is not uncommon for symptoms to persist despite medication (
      • Pardanani A.
      Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management.
      ).
      Patients with severe anaphylactic reactions or other massive mast cell mediator symptoms may be prescribed injectors with steroids or epinephrine to use in emergency situations. Patients with Adv SM have a reduced life expectancy and often have cancer-associated symptoms such as weight loss, cytopenia, organomegaly and ascites due to massive mast cell infiltration in various organs. These require cytoreductive therapy with, e.g., tyrosine kinase inhibitors or a combination of steroids and interferon. Such more potent therapy regimens result in stronger side effects, such as muscle pain, nausea and gastrointestinal (GI) problems with tyrosine kinase inhibitors or influenza-like symptoms after interferon injections (
      • Pardanani A.
      Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
      ), but are reported to potentially lessen symptom burden and improve QoL (
      • Hartmann K.
      • Gotlib J.
      • Akin C.
      • Hermine O.
      • Awan F.T.
      • Hexner E.
      • Mauro M.J.
      • Menssen H.D.
      • Redhu S.
      • Knoll S.
      • Sotlar K.
      • George T.I.
      • Horny H.P.
      • Valent P.
      • Reiter A.
      • Kluin-Nelemans H.C.
      Midostaurin improves quality of life and mediator-related symptoms in advanced systemic mastocytosis.
      ).
      The patient-rated impact of SM and its treatment has been studied previously, with some studies also including persons with other mast cell disorders – a broader range of diagnoses than in this study (
      • Jennings S.V.
      • Slee V.M.
      • Zack R.M.
      • Verstovsek S.
      • George T.I.
      • Shi H.
      • Lee P.
      • Castells M.C.
      Patient perceptions in mast cell disorders.
      ;
      • Nicoloro-SantaBarbara J.
      • Carroll J.
      • Lobel M.
      Coping, social support, and anxiety in people with mast cell disorders.
      ). Health-related quality of life (HRQoL) studies exclusively including persons with mastocytosis report significant negative effects on HRQoL, including depression, somatisation, affected sleep and cognitive functioning (
      • Hermine O.
      • Lortholary O.
      • Leventhal P.S.
      • Catteau A.
      • Soppelsa F.
      • Baude C.
      • Cohen-Akenine A.
      • Palmérini F.
      • Hanssens K.
      • Yang Y.
      • Sobol H.
      • Fraytag S.
      • Ghez D.
      • Suarez F.
      • Barete S.
      • Casassus P.
      • Sans B.
      • Arock M.
      • Kinet J.P.
      • Dubreuil P.
      • Moussy A.
      Case-control cohort study of patients' perceptions of disability in mastocytosis.
      ;
      • Nowak A.
      • Gibbs B.F.
      • Amon U.
      Pre-inpatient evaluation on quality and impact of care in systemic mastocytosis and the influence of hospital stay periods from the perspective of patients: a pilot study.
      ;
      • Jennings S.
      • Russell N.
      • Jennings B.
      • Slee V.
      • Sterling L.
      • Castells M.
      • Valent P.
      • Akin C.
      The mastocytosis society survey on mast cell disorders: patient experiences and perceptions.
      ;
      • van Anrooij B.
      • Kluin-Nelemans J.C.
      • Safy M.
      • Flokstra-de Blok B.M.
      • Oude Elberink J.N.
      Patient-reported disease-specific quality-of-life and symptom severity in systemic mastocytosis.
      ;
      • Siebenhaar F.
      • von Tschirnhaus E.
      • Hartmann K.
      • Rabenhorst A.
      • Staubach P.
      • Peveling-Oberhag A.
      • Wagner N.
      • Martus P.
      • Carter M.C.
      • Metcalfe D.D.
      • Church M.K.
      • Maurer M.
      • Weller K.
      Development and validation of the mastocytosis quality of life questionnaire: MC-QoL.
      ;
      • Jennings S.V.
      • Slee V.M.
      • Zack R.M.
      • Verstovsek S.
      • George T.I.
      • Shi H.
      • Lee P.
      • Castells M.C.
      Patient perceptions in mast cell disorders.
      ;
      • Jensen B.
      • Broesby-Olsen S.
      • Bindslev-Jensen C.
      • Nielsen D.S.
      Everyday life and mastocytosis from a patient perspective-a qualitative study.
      ;
      • Nicoloro-SantaBarbara J.
      • Carroll J.
      • Lobel M.
      Coping, social support, and anxiety in people with mast cell disorders.
      ;
      • Pulfer S.
      • Ziehfreund S.
      • Gebhard J.
      • Hindelang B.
      • Biedermann T.
      • Brockow K.
      • Zink A.
      Health-related quality of life and influencing factors in adults with nonadvanced mastocytosis- a cross-sectional study and qualitative approach.
      ).
      Recently,
      • Pulfer S.
      • Ziehfreund S.
      • Gebhard J.
      • Hindelang B.
      • Biedermann T.
      • Brockow K.
      • Zink A.
      Health-related quality of life and influencing factors in adults with nonadvanced mastocytosis- a cross-sectional study and qualitative approach.
      published a study including 101 participants with non-advanced mastocytosis in which the mastocytosis-specific questionnaire MC-QoL (
      • Siebenhaar F.
      • von Tschirnhaus E.
      • Hartmann K.
      • Rabenhorst A.
      • Staubach P.
      • Peveling-Oberhag A.
      • Wagner N.
      • Martus P.
      • Carter M.C.
      • Metcalfe D.D.
      • Church M.K.
      • Maurer M.
      • Weller K.
      Development and validation of the mastocytosis quality of life questionnaire: MC-QoL.
      ;
      • Siebenhaar F.
      • Sander B.
      • Ho L.H.T.
      • Ellrich A.
      • Maurer M.
      • Weller K.
      Development and validation of the mastocytosis activity score.
      ) was used in combination with structured telephone interviews. About 50% reported everyday disease-related impairments, mainly food- and skin-related, and almost as many reported a psychological burden. When responding to the MC-QoL, around two thirds reported no or mild HRQoL impairment. Notably, a bone marrow sample was taken in only 60% of the study population and, of these, not all patients fulfilled the criteria for SM. These factors likely contributed to the more diverse range of symptoms and in many cases less severe impact of disease, compared with previous reports on SM patients.
      There is, to our knowledge, only one interview study exploring everyday life from the perspective of persons diagnosed with SM (
      • Jensen B.
      • Broesby-Olsen S.
      • Bindslev-Jensen C.
      • Nielsen D.S.
      Everyday life and mastocytosis from a patient perspective-a qualitative study.
      ). This Danish study included seven persons with ISM who had experienced at least one serious anaphylactic episode. It revealed consequences in multiple aspects of everyday life, due to the unpredictable and rare nature of the disease. Signs and symptoms of the disease were often experienced as stressful, with a constant fear of anaphylactic shock. Encounters with healthcare could be problematic due to the generally low awareness. Expert knowledge and support were called for, not only at diagnosis but throughout the entire course of the disease (
      • Jensen B.
      • Broesby-Olsen S.
      • Bindslev-Jensen C.
      • Nielsen D.S.
      Everyday life and mastocytosis from a patient perspective-a qualitative study.
      ).
      In summary, knowledge about the subjective patient experiences of living with SM is limited, as no qualitative study has previously, to our knowledge, included participants exclusively based on a confirmed diagnosis. Such information is important to gain a fuller perspective on patient experiences of the disease and treatment impact, in order to optimise patient care. The present study is, to our knowledge, the first wholly qualitative study aiming to describe the experiences of everyday life in persons with a diagnosis of ISM or Adv SM.

      2. Methods

      2.1 Design, setting and participants

      This is a descriptive qualitative study (
      • Patton M.Q.
      Enhancing the quality and credibility of qualitative analysis.
      ), structured in accordance with the SRQR guidelines (
      • O'Brien B.C.
      • Harris I.B.
      • Beckman T.J.
      • Reed D.A.
      • Cook D.A.
      Standards for reporting qualitative research: a synthesis of recommendations.
      ). Persons with SM in Sweden may either be treated at a local hospital or be referred for multi-professional investigation and care to one of two centres for mastocytosis, both located at university hospitals. The first author works as a coordinator and contact nurse at one of these two centres. Therefore, the participants were recruited from the other centre. The inclusion criteria were having a diagnosis of SM verified through a bone marrow biopsy, being able to speak and understand the Swedish language, and being 18 years or older. Furthermore, to improve feasibility, only persons living in mid-Sweden were included. Exclusion criteria were cognitive impairment/disorder, alcohol/drug abuse or severe comorbidity. Purposive sampling was used to obtain a variation in age, sex and the two different kinds of SM: ISM and Adv SM.
      Patients were invited to the study by the attending physician at the centre, by phone or in connection with a visit. Seventeen eligible persons were approached and all expressed interest to participate in the study. One interview was excluded as it was apparent that the participant suffered from cognitive impairment. The final study group thus consisted of sixteen participants (Table 1).
      Table 1Demographic characteristics of the participants (n = 16).
      CharacteristicsStatistics/categoriesISM
      = Indolent systemic mastocytosis.
      (n = 9)
      Adv SM
      = Advanced systemic mastocytosis.
      (n = 7)
      SexMale/Female2/72/5
      Age (years)Mean6270
      Age distribution (years)31–5020
      51–7054
      71–8323
      Time from first symptoms of disease to diagnosis (years)Mean/Range10.5/5-332.5/0-12
      Time from diagnosis to interview (years)Mean/Range4.2/0-161.7/1-3
      Working situationWorking full time51
      Retired45
      Sick-leave01
      Family SituationPartner/Married66
      Live apart01
      Single30
      Children67
      a = Indolent systemic mastocytosis.
      b = Advanced systemic mastocytosis.

      2.2 Ethical considerations

      The study was approved by Swedish Ethical Review Authority (Dnr 2016/182). We assert that all procedures contributing to this work comply with the ethical standards of the relevant national and institutional guidelines on human experimentation (
      The Swedish Code of Statutes 2003;460
      Act on Ethical Review of Research Involving Humans).
      ) and were performed in accordance with international guidelines for empirical research, as outlined in the Helsinki Declaration of 1975, as revised in 2008 (
      • World Medical Association
      World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects.
      ). Informed verbal and written consent was obtained from each participant before inclusion.

      2.3 Data collection

      The participants who expressed interest in participation were contacted by phone by the first author and given more information about the study. Each participant decided on the time and place for their interview. The interviews were semi-structured and performed face-to-face by the first author, between November 2016 and April 2017. The interviewer presented herself as a nurse working at a mastocytosis centre, who therefore met patients with SM on a daily basis. Thereafter, questions on demographic data were posed (Table 1). The interview proceeded with questions from an interview guide and probing questions were used when needed (Table 2). The interview guide was pilot-tested on one patient who met the inclusion criteria, with resulting indicating that the guide was appropriate. Thus, this interview was included in the results. Questions about how persons with SM experienced the time between the onset of symptoms and signs and receiving the diagnosis were also included in the interviews. These results will be presented separately. The interviews lasted 25–90 min, with a median time of 60 min. Thirteen of the interviews took place in participants’ homes. The other three were located where those participants wanted: at a hospital, a library and a workplace during a lunchbreak, respectively. The interviews were recorded and transcribed, including emotional content such as laughing and crying (
      • Polit D.F.
      • Beck C.T.
      Nursing Research: Generating and Assessing Evidence for Nursing Practice.
      ). The transcription was done within two weeks of each interview, enabling content analysis to start and continue during the data collection.
      Table 2The semi-structured interview guide.
      Main question Can you please tell me …Examples of probing question
      … how you feel right now?What is good? What is less good?
      … about a regular day?What is it like when things are good? When things feel hard?
      … about a working day?What is it like when things are good? Any difficulties or complications?
      … about your spare time?What do you do? Do you experience any limitations?
      … how you do to handle difficulties in your everyday life?Physical? Psychological Social? Existential?
      … the resources you use while managing your daily life?Capabilities? Experiences? Knowledge? Ways of coping?
      … which significant others that may support you in your everyday life?Work (colleagues etc.)

      Rehab (physiotherapist, Nurse, physician etc.)
      … what makes life meaningful for you?Spirituality (belief, nature etc.)
      … how you experience your relationship with others in your everyday life?
      … if there is anything else you want to share with me?
      Data were analysed with inductive content analysis following Patton's description, in search for the core content of the data (
      • Patton M.Q.
      Enhancing the quality and credibility of qualitative analysis.
      ). First, the entire transcripts were read repeatedly. Data relevant to the aim were then organised under different labels, which served as a classification system. The transcripts were thereafter read one more time and a more structured coding began. The coding process involved every transcript being coded twice by multiple coders. The code names were grounded in the data and close to the text. Codes that fit together were then sorted into subcategories, from which the main categories were developed. The categories were checked for internal homogeneity and external heterogeneity, to ensure that all data in each category fit together in a suitable way. Lastly, quotations representative of each subcategory were selected (
      • Patton M.Q.
      Enhancing the quality and credibility of qualitative analysis.
      ).

      2.4 Ensuring rigor

      The rigor and trustworthiness of this study are discussed in terms of credibility, dependability, transferability, confirmability (
      • Lincon Y.S.
      • Guba E.G.
      Naturalistic Inquiry.
      ) and reflexivity (
      • Patton M.Q.
      Enhancing the quality and credibility of qualitative analysis.
      ). To ensure credibility, we chose a qualitative design including content analysis and purposive sampling that corresponded to the aim of the study. In addition, the first author was familiar with the field, as an experienced nurse in SM, which was valuable in the design of the interview guide and when performing the interviews. Measures were taken to ensure that she had no previous knowledge of the participants: they were recruited from another centre for mastocytosis than the one where she worked. The participants were asked to describe experiences of living with mastocytosis in their own words. The interviews flowed well and the participants often spontaneously spoke about the areas in the interview guide, so some questions did not have to be asked in some cases. The interviews were long and produced rich data. Data redundancy was achieved after approximately thirteen interviews, but data collection continued until sixteen interviews were completed.
      Dependability was strengthened through the use of a structured interview guide and the establishment of a coding system. Thorough discussions ensured that all researchers involved in the analysis process agreed on the meaning of the analysis. Transferability has been strengthened by the entire process being described as richly and transparently as possible (i.e., ‘thick description’). The use of quotations illustrating each subcategory enables the reader to see connections between the dataset and the source, supporting the formation of categories and hence the study's confirmability. Reflexivity was strengthened by awareness of the first author's preconceptions, which were reflected on and discussed during the interpretation of the data. The other researchers who took part in the analysis (AN and MH) are experienced qualitative researchers, but naïve in the SM field.

      3. Results

      Based on the interview categorisation, we identified three main categories: The persistent presence of the disease, Struggling against ignorance and An illness or wellness perspective, with each category containing 2–3 subcategories (Fig. 1) . When there were differences in expressed experiences between persons with ISM and Adv SM, these have primarily been described in the text presenting the main categories. Quotations relevant to each sub-category are inserted into the text, indicated by quotation marks and italics. Each respondent has been allotted a unique number.
      Fig. 1
      Fig. 1Living with systemic mastocytosis, categories (outer circle) and subcategories (inner circle).

      3.1 The persistent presence of the disease

      The disease was always present in some way, due to the symptoms and side effects of lifelong medication. These, and strategies to manage the situation through adaption in everyday life are described in this category. In particular, participants with Adv SM described severe muscle pain, balance difficulties and fatigue that affected their physical capacity. They mentioned more medication side-effects but no obvious medication benefits, whereas participants with ISM primarily described positive experiences of treatment.

      3.1.1 Symptom impact

      This subcategory refers to how the symptoms could affect the participants. Despite medication, participants experienced various symptoms, e.g., daily tiredness, flushes and rashes. Changes in temperament, e.g., irritability, difficulties concentrating and feelings of low mood, were also described. These symptoms were often unpredictable and harmed the participants' everyday life. One participant stated ‘I don't have any patience anymore, and I have always been sewing and crocheting, but no, when I eventually do sit down, I get a crawling sensation.’ (ID: 7, ISM).
      Not always being able to control one's own body was perceived as frustrating and resulted in feelings of uncertainty, embarrassment and a loss of self-confidence. The lack of body control consisted of, e.g., extensive fatigue, fainting and abdominal symptoms, such as cramping, diarrhoea and constipation. These particular symptoms were hard to cope with and could result in self-imposed isolation. One participant said ‘I always have this fear in my body, that I can't control the diarrhoea, that's what really hard, that it prevents you from being normal, I had an accident at the mall once.’ (ID: 3, Adv SM).
      Problems with keeping one's balance and muscle, joint and bone pain were also expressed. A decline in libido could occur after the onset of symptoms. The specific symptom triggers varied, but could include food, alcohol, pharmaceuticals, local anaesthesia, wasps, stress and sperm. The outdoor temperature could also provoke symptoms. One participant said: ‘Yeah, being in the sun is just impossible, I've had to spend pretty much all of this summer in the basement, which has been so hard, it's a severe limitation, because I love being outdoors.’ (ID: 7, ISM).
      The rashes were cosmetically disturbing and a constant reminder of the disease. They elicited a negative body perception and a sense of not being normal. This was mentioned by participants of both sexes and various ages: ‘… I can look at myself in the mirror and be like, what a shame that it’s there. Sometimes I wish there were a cream or something that you could smear on, so it wasn't as visible. I think that means that while I used to like my body, I don't think I do anymore, not like that.’ (ID: 7, ISM).

      3.1.2 Treatment experiences

      Participants were often prescribed medication to be taken daily, with both beneficial and adverse effects. Advantages of treatment were highlighted, especially regarding wasp hypo-sensitisation treatment: ‘That's a real saviour, so I can live a relatively normal life.’ (ID: 13, ISM). Lifelong treatment could also be frustrating and time-consuming, as the participants missed out on social events and were forced to take time off work. In addition, participants underlined that side effects could occur with long-term treatment and reflected on the possible implications: ‘What does my future look like and how will the treatment affect me? What will happen when I get worse? Will my bones be the first thing to go?’ (ID: 4, Adv SM). Many participants were hoping for novel therapeutic options with less side effects.
      Some side effects were also described, especially from interferons, which could cause symptoms resembling the flu, mouth dryness and migraine. ‘I get a dry mouth, a headache and get really tired after the interferon shot.’ (ID: 6, Adv SM).
      Tyrosine kinase inhibitors could cause pain and stiffness in muscles and joints. ‘Yeah, the problem I have now is that I have so much pain in my muscles and joints, almost like after you've been exercising, even though I haven't. When I go for a walk, I have no energy. I have to sit down and take a rest after just 300 m’ (ID: 10, Adv SM). This could lead to difficulties in walking longer distances, nausea and vomiting. Several of the participants had prophylactic epinephrine injectors to use in case of an anaphylactic reaction. They found it difficult to always remember to bring the injector and also displayed a lack of knowledge regarding when and how to administer the injection. This could potentially lead to a delayed reaction in an emergency situation, as seen in this quotation: ‘I sat there and looked at the injector for probably 5 min, I couldn't even read any more [the instructions on the injector]. And then my daughter came and gave me the shot. I had waited too long, I need to be really fast.’ (ID: 13, ISM).
      Participants with GI symptoms sometimes used anti-diarrhoea medication, but with the side effect of getting more symptoms on the following day. Another treatment was sodium cromolyn, which could have a positive impact on GI symptoms, but was perceived as having a bad taste and remembering to take it before meals was considered to be hard.

      3.1.3 Curbing mastocytosis through self-imposed limitations and adaption

      The participants tried to deal with SM through adaption. The disease was described as unpredictable and the wide variety of invisible and visible symptoms often posed a challenge in everyday life. Different ways to adapt to the disease were described. Participants expressed the importance of having spare time, exercising, eating healthy meals, being nice to their body so as not to trigger reactions, and finding new interests that were not affected by the disease.
      The participants had various strategies to limit SM symptoms. If possible, the factors causing symptoms were avoided, which was perceived as psychologically trying. The participants felt that they had to be on guard all the time and that their lives were at stake. Wasps could be terrifying: ‘I am much more observant of wasps now and don't want them near me. We have a lot of wasps, so I pay more attention to them.’ (ID: 13, ISM). Participants with skin symptoms avoided the sun and changes in temperature. Participants with osteoporosis were more careful when walking and could refrain from activities they thought could cause new fractures. One participant said: ‘I am much more careful when I am out walking and when it's slippery, I am really careful.’ (ID:7, ISM). Social activities often required planning. Adaptions to prevent others from noticing symptoms and signs of the disease were common, e.g., pre-ordering meals before restaurant visits and flights. Those of the participants who were troubled by rashes covered them with clothing and dealt with any questions about the spots and rashes by explaining what SM is and that it is not a danger to others.
      Participants who were employed stated that the disease affected their working life, but that it was manageable with good planning. One participant illustrated how diarrhoea problems could be managed: ‘Yeah, if I get bowel problems and need to go to the bathroom, sometimes I can go three times before I go to work and then I'll still need to go twice more that same day. So usually in the daytime I choose things that have worked well, so no shrimp salad, because I don't want to risk it getting too problematic.’ (ID: 8, ISM). One participant emphasised the value of keeping a diary: ‘They checked if I was allergic, but that didn't show anything. But then he said that I should keep a diary of every last thing that I did and ate. And then I could see a pattern. I can't eat eggs, fish or seafood. That's what I know.’ (ID: 16, ISM). However, it could take time to find out what food items were tolerated. One participant stated: ‘I have noticed that it has something to do with my diet that I haven't been able to find a system for.’ (ID: 8, ISM).
      Incontinence protection could be needed and participants often brought an extra outfit and some water when visiting places where access to toilets was limited. When coordinating social events, the locations were chosen carefully. As a participant explained: ‘I need to think carefully if I am going to do something: where is there a toilet?’ (ID: 11, ISM).

      3.2 Struggling against ignorance

      This category describes the impact of suffering from a rare disease on interactions with both healthcare contacts and strangers. Participants with Adv SM in particular expressed concern that the healthcare professionals would not know how their disease should be managed. Participants with ISM did not appear to have the same frequent need for healthcare but had experienced a lack of knowledge and difficulties in obtaining help to manage mediator-related symptoms. Unwanted attention because of rashes were primarily perceived by participants with ISM.

      3.2.1 Being the involuntary expert

      This subcategory describes the lack of knowledge of SM among healthcare professionals. The following quotation summarises the participants' experience that they had to illuminate healthcare professionals about what SM is and that they felt their knowledge was crucial for their survival: ‘I think I've handled it pretty well, otherwise I wouldn't be sitting here, if I'd just listened to what healthcare told me, I wouldn't be alive today, that's just the way it is.’ (ID: 15, Adv SM).
      The participants were often questioned when they called for an ambulance or needed approval for sick leave. They experienced obstacles to obtaining surgery and dental care due to the diagnosis, leading to a higher risk of complications.
      One participant had an operation scheduled and described that the doctors at first did not want to proceed due to SM: ‘I am going to have an operation for hallux valgus, and they didn't want to do it at first, because of the mastocytosis. But now my doctors have written a testimonial, so it's going to happen.’ (ID: 12, ISM).
      Lack of coordination between different healthcare specialists was reported. The participants also brought up a lack of continuity in care, feelings of being vulnerable and that doctors focused on the disease and technical details rather than on the participants' experiences, feelings and views on everyday life when living with SM. The participants highlighted a lack of structured information regarding treatment, choice of treatment and strategies for handling triggers. One participant described the following situation: ‘I had paid 800 kronor for the trip and set aside the entire day for this, and the doctor could only see me for 20 min and we never talked about how I was doing. I didn't have a contact nurse who could help me. They know the technical stuff, but don't understand what it means for the patients to have this disease.’ (ID: 15, Adv SM).

      3.2.2 Unwanted attention

      As SM is a rare disease and knowledge is limited, symptoms and signs can provoke questions, curiosity and attention, as the following quotation from one participant illustrates: ‘Everyone looks at you when you have a bunch of spots and rashes, you can see them glancing at you and maybe wondering if it's contagious, which doesn't feel great.’ (ID: 7, ISM).
      The unwanted attention could cause embarrassment and psychological stress with negative thoughts. One participant said: ‘But I don't really want to go to the beach, I have all these spots. I want a playa of my own. If I were to go swimming on the Canary Islands, then I wouldn't care, but going to our local beach here in town, that would embarrass me. Then I prefer not going.’ (ID: 17, ISM).

      3.3 An illness or wellness perspective

      This category captures the participants’ emotional strategies and struggles. It was common to alternate between feelings of vulnerability and feelings of acceptance. Some participants with ISM were concerned that their disease would transform to Adv SM and stressed the importance of support from others, whereas the participants with Adv SM expressed concerns regarding worsening of the disease and survival uncertainty. These participants had more contact with health care and stressed that a reliable physician was crucial for gaining emotional control.

      3.3.1 Worried, vulnerable and alienated

      The disease was experienced as hard to understand, leading to confusion and uncertainty. Information about SM and possible treatment options was often given at the same time as participants were informed that they had the disease. They might then be in a state of shock and in poor health generally, negatively impacting on the possibility to assimilate and remember such information. It also emerged that the doctors sometimes used words and concepts that the participants found difficult to understand. ‘I have found out that it’s to do with the blood, though I understand that some people have it in their bones. But I do wonder why people get it. Maybe I've gotten information about that before, when I was really sick, but then you don't really understand anything, you just say yes. I mean, this won't go away, I'll have it for the rest of my life.’ (ID: 6, Adv SM).
      Participants verbalised concerns about their future in relation to the disease, treatment and possible heredity. Some participants with ISM were afraid that the disease would transform into Adv SM. One participant said: ‘But then I asked if I can get aggressive mastocytosis, if my indolent form can change into that and the doctor said “well, I've seen that in one patient”, and you know, that's been bothering me ever since (… cries …).’ (ID: 12, ISM).
      Participants with Adv SM were generally aware of the serious nature of the disease. The complex and unpredictable nature of the disease raised thoughts about in what form the deterioration of the disease would occur, e.g., which organ would give up first. The participants also thought about how much time they had left in life. This question was seldom addressed by healthcare professionals and was perceived as difficult for the participants to raise themselves. Some participants had first been told that they had very limited expected survival, but were still alive several years later. This made it hard to plan life. One participant expressed concerns about building a romantic relationship ‘It's all so complicated. You wonder how many years you're going to get. The first prognosis was fourteen days, and then it was five years, and I've been around longer than that now./ … /I have a partner, we're living apart and are not going to move in together. He's as unsure about it as I am – do you get invested in a relationship when I'm so sick? I'm worried about what will happen in the future. How long will I live? Ultimately, it's a fatal condition.’ (ID: 15, Adv SM).
      Participants felt that the disease was mysterious, elusive and peculiar. They perceived themselves as being unique due to the rareness of the disease, which created a sense of loneliness and alienation. One participant declared ‘I can feel like a discriminated minority, because no one knows what kind of disease I have.’ (ID: 17, ISM).

      3.3.2 Striving for emotional control and acceptance

      The chronic, incurable nature of the disease was perceived as frustrating and created a sense of hopelessness and anger. Participants grappled to get emotional control through various means such as searching for meaning, acceptance and other emotional strategies to cope. One coping strategy was to compare themselves with others who they believed suffered from worse diseases. Older participants said that it would have felt worse to have had the disease if they were younger and that they had expected to get some kind of health problem with age. Religious participants were comforted by their beliefs. They expressed that they were never alone and that the church and congregation provided beautiful solidarity. Other participants were helped by spending time in nature or having a life philosophy partially influenced by concepts like karma and coincidence.
      Relationships with significant others were important for emotional support and ventilating problems and concerns. Some mentioned feeling confident when talking to relatives about their disease and symptoms. ‘My husband doesn't think it's a big deal. I can say to him: “Look at how awful my legs look!” “What? That's not a big deal,” he'll say.’ (ID: 7, ISM).
      Other participants did not want to talk about some matters with relatives for reasons of privacy and a wish to keep up appearances. Feeling a need to have someone outside the family to talk to was described; one of the participants put it as follows: ‘Yeah, it's one of my dog-walking friends who I meet in the mornings. We can talk about things I'd never discuss with my close friends, that's what's so nice, that what we talk about, it stays there.’ (ID: 6, Adv SM).
      Some of the participants did not feel a need to talk to other persons affected by SM, while others valued contact with fellow patients: ‘Yeah, I've gotten some great comments through the chat on the patient association site, you can tell that you aren't alone in your problems.’ (ID: 7, ISM).
      Further, the participants tried to find information about the disease on their own. The information available was limited and not always reliable (e.g., Facebook). Some participants had asked for copies of their medical records. Others felt that it was better not to know too much.
      The participants described acceptance of the fact that the disease was chronic and dealt with the situation by taking one day at a time. ‘Yeah, it is a bit unusual, but the thing is that everyone dies from something. I'm glad there's so much medicine available for it, actually. It is what it is.’ (ID: 6, Adv SM). This acceptance gave them hope for the future and meant that they could trust others and tell them about symptoms and the disease. Participants emphasised that their health depended on if they could rely on their doctor and they expressed a sense of relief when they were referred to SM specialists. Some participants wished to take an active role in planning treatment together with their doctor and describe an urge to contribute to research into new treatment. Others had full trust in their doctor, as described here by one participant: ‘I can entrust my doctor with my body and don't need to worry about it. I can focus on my life, on living. I would have been much more concerned if I had a doctor who I couldn't trust.’ (ID: 1, Adv SM).
      Participants stated that they did not want the disease to define them and that they intended to live the life they wanted: ‘My strategy is to not let my disease define me. I don't want to let my disease govern me. I'd rather see myself as healthy than unwell.’ (ID: 13, ISM).

      4. Discussion

      In the current descriptive qualitative interview study of SM patients, we identified three main categories. The persistent presence of the disease includes findings of how symptoms and medication side effects impacted everyday life, as well as strategies to deal with such situations through adaption. Struggling against ignorance illustrates contacts with healthcare professionals. The participants described that they were often forced to be experts on SM due to the lack of knowledge among healthcare professionals. Knowledge was also experienced as limited among the general public, which could provoke unwanted attention from strangers. An illness or wellness perspective encompasses the participants’ feelings of vulnerability and alienation, but also how various strategies were used to gain emotional control.
      Our findings from the SM cohort are in line with those of previous studies in other chronic diseases, showing that persons living with long-term illness experience a variety of symptoms and limitations in everyday life (
      • Ambrosio L.
      • Senosiain García J.M.
      • Riverol Fernández M.
      • Anaut Bravo S.
      • Díaz De Cerio Ayesa S.
      • Ursúa Sesma M.E.
      • Caparrós N.
      • Portillo M.C.
      Living with chronic illness in adults: a concept analysis.
      ). In some situations, the participants' descriptions were clearly focused on their illness, whereas in others, their striving to lead a life as normal and healthy as possible was apparent. The Shifting Perspectives Model describes this process as ongoing, with patients shifting between the illness-in-the-foreground perspective and the wellness-in-the-foreground perspective along the trajectory of chronic illness (
      • Paterson B.L.
      The shifting perspectives model of chronic illness.
      ). The model is based on a meta-analysis of 292 qualitative studies from different countries and disciplines. When the illness is in the foreground, the perspective is focused on the burden of the disease. This approach can often drain the person's energy. In our study, some participants avoided social gatherings and reduced contact with others for fear of showing symptoms in public.
      When wellness is in the foreground, the person can separate the disease from the self and control the disease, instead of being controlled by it. This perspective can entail a possibility to recalibrate life and relationships with others. However, persons with a wellness-in-the-foreground perspective will sometimes need to shift perspective due to their circumstances, e.g., when struggling to access healthcare.
      The participants described a variety of unpredictable triggers and symptoms, with a heavy impact on everyday life. Previously, Jensen et al. (2019) have reported somewhat similar results. However, in the current study, a wider range of symptom- and treatment-related experiences were presented. Notably, GI symptoms, not mentioned by
      • Jensen B.
      • Broesby-Olsen S.
      • Bindslev-Jensen C.
      • Nielsen D.S.
      Everyday life and mastocytosis from a patient perspective-a qualitative study.
      , were highlighted as being particularly difficult to cope with. This was apparent for both sexes, both forms of SM and regardless of age. A loss of body control, embarrassment, a need for incontinence protection and even self-imposed isolation were reported. Previous studies (
      • Sokol H.
      • Georgin-Lavialle S.
      • Canioni D.
      • Barete S.
      • Damaj G.
      • Soucie E.
      • Bruneau J.
      • Chandesris M.O.
      • Suarez F.
      • Launay J.M.
      • Aouba A.
      • Grandpeix-Guyodo C.
      • Lanternier F.
      • Grosbois B.
      • de Gennes C.
      • Cathébras P.
      • Fain O.
      • Hoyeau-Idrissi N.
      • Dubreuil P.
      • Lortholary O.
      • Beaugerie L.
      • Ranque B.
      • Hermine O.
      Gastrointestinal manifestations in mastocytosis: a study of 83 patients.
      ;
      • Vermeiren M.R.
      • Kranenburg L.W.
      • van Daele P.L.A.
      • Gerth van Wijk R.
      • Hermans M.A.W.
      Psychological functioning and quality of life in patients with mastocytosis: a cross-sectional study.
      ) have reported significant negative impact on QoL in SM patients suffering from GI symptoms and
      • Jennings S.V.
      • Slee V.M.
      • Zack R.M.
      • Verstovsek S.
      • George T.I.
      • Shi H.
      • Lee P.
      • Castells M.C.
      Patient perceptions in mast cell disorders.
      reported GI symptoms as being one of the most troublesome symptoms for persons with mast cell disorders. In our study, avoiding certain foods and eating less before important social events were reported as methods to avoid triggers and lessen GI symptoms. In a previous large study of 382 persons with mast cells disorders, 60% had experimented with a low histamine diet or histamine elimination diet, frequently without symptom improvement and with increased fear of inadequate food intake. Notably, only 5.8% of patients had been given guidance from a dietician, which can be seen as a lack on the side of healthcare, as it is important not to restrict a patient diet more than necessary (
      • Jarkvist J.
      • Brockow K.
      • Gülen T.
      Low frequency of IgE-mediated food hypersensitivity in mastocytosis.
      ).
      Previous studies report longer SM duration and increased disease severity to be correlated with greater negative impact on QoL (
      • Siebenhaar F.
      • von Tschirnhaus E.
      • Hartmann K.
      • Rabenhorst A.
      • Staubach P.
      • Peveling-Oberhag A.
      • Wagner N.
      • Martus P.
      • Carter M.C.
      • Metcalfe D.D.
      • Church M.K.
      • Maurer M.
      • Weller K.
      Development and validation of the mastocytosis quality of life questionnaire: MC-QoL.
      ;
      • Pulfer S.
      • Ziehfreund S.
      • Gebhard J.
      • Hindelang B.
      • Biedermann T.
      • Brockow K.
      • Zink A.
      Health-related quality of life and influencing factors in adults with nonadvanced mastocytosis- a cross-sectional study and qualitative approach.
      ). The current study was not designed to investigate correlations or differences between groups, but when reflecting on the results, some tentative interpretations might be made. It did not seem that persons with a longer disease duration had a more difficult situation. Rather, and unsurprisingly, the interviews revealed that those with more symptoms reported more difficulties in coping with SM. Regardless of diagnosis severity, persons with ISM and Adv SM described rather similar impact of symptoms, although participants with ISM seemed to report more problems with triggers and rashes. Adv SM participants focused more on treatment experiences and reported worse side effects. As the treatment for Adv SM is often more potent, this finding was not unexpected.
      Our study also provides new knowledge regarding treatment experiences. Medication could result in better symptom control and make it possible to live a better life, but could also affect everyday life negatively due to side effects and being time-consuming. Most participants experienced some symptoms despite medication. Also, feelings of uncertainty were expressed regarding how to perform the prophylactic epinephrine injection in case of anaphylaxis. Training and education in this area have been reported to provide a sense of security (
      • Jensen B.
      • Broesby-Olsen S.
      • Bindslev-Jensen C.
      • Nielsen D.S.
      Everyday life and mastocytosis from a patient perspective-a qualitative study.
      ).
      The findings in the category Struggling against ignorance illustrate the participants’ feelings of frustration in having to be experts on SM themselves, due to lack of knowledge among healthcare professionals. In a systematic review on experiences of living with a rare disorder,
      • von der Lippe C.
      • Diesen P.S.
      • Feragen K.B.
      Living with a rare disorder: a systematic review of the qualitative literature.
      presented similar findings. Patients with rare diseases are often faced with a lack of knowledge and unmet needs in encounters with healthcare professionals, forcing them to be experts on their own disease. Continuity of care was described as crucial for such patients. In the current study, some participants even described being refused treatment, e.g., operations or dental care, due to unnecessary fears of SM-related complications. This can be seen as discrimination due to having a rare disease and contributes to the participants having no choice but to take the illness-in-the-foreground perspective when struggling to have their needs met. This deficiency in the healthcare system was described by all participants in the current study. Of note, aspects of uncoordinated care for people with rare diseases is a recognized phenomenon (
      • Simpson A.
      • Bloom L.
      • Fulop N.J.
      • Hudson E.
      • Leeson-Beevers K.
      • Morris S.
      • Ramsay A.I.G.
      • Sutcliffe A.G.
      • Walton H.
      • Hunter A.
      How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study.
      ), resulting in patients and carers being required to coordinate their own care, with the consequences of physical (e.g., fatigue), financial (earnings, travel costs) and psycho-social (emotional burden, impacts on work) distress. Therefore,
      • Simpson A.
      • Bloom L.
      • Fulop N.J.
      • Hudson E.
      • Leeson-Beevers K.
      • Morris S.
      • Ramsay A.I.G.
      • Sutcliffe A.G.
      • Walton H.
      • Hunter A.
      How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study.
      emphasised a need for support from professionals to help coordinating care and a multi-disciplinary teamwork.
      The findings in the category An illness or wellness perspective describe how the participants strived to cope with their incurable disease and used various strategies to gain emotional control. Several participants compared themselves with persons with what they considered to be worse diseases, to feel less unwell. This kind of avoidant coping correlates with higher anxiety levels when compared with more problem-focused coping strategies (
      • Nowak A.
      • Gibbs B.F.
      • Amon U.
      Pre-inpatient evaluation on quality and impact of care in systemic mastocytosis and the influence of hospital stay periods from the perspective of patients: a pilot study.
      ;
      • Nicoloro-SantaBarbara J.
      • Carroll J.
      • Lobel M.
      Coping, social support, and anxiety in people with mast cell disorders.
      ). Some participants were focused on living in the present, while others expressed concern about the future. A few participants with ISM expressed fear that their disease would transform into Adv SM, while Adv SM participants often knew that their disease was serious, but were in need of more information about expected survival. The lack of information made it hard for them to plan their life.
      SM is known to have a significant psychological impact (
      • Jensen B.
      • Broesby-Olsen S.
      • Bindslev-Jensen C.
      • Nielsen D.S.
      Everyday life and mastocytosis from a patient perspective-a qualitative study.
      ;
      • Vermeiren M.R.
      • Kranenburg L.W.
      • van Daele P.L.A.
      • Gerth van Wijk R.
      • Hermans M.A.W.
      Psychological functioning and quality of life in patients with mastocytosis: a cross-sectional study.
      ;
      • Nicoloro-SantaBarbara J.
      • Carroll J.
      • Lobel M.
      Coping, social support, and anxiety in people with mast cell disorders.
      ;
      • Pulfer S.
      • Ziehfreund S.
      • Gebhard J.
      • Hindelang B.
      • Biedermann T.
      • Brockow K.
      • Zink A.
      Health-related quality of life and influencing factors in adults with nonadvanced mastocytosis- a cross-sectional study and qualitative approach.
      ). For many participants, the rareness of SM instilled a feeling of loneliness, discrimination and alienation. The unpredictable nature of SM symptoms could result in rapidly changing back and forth between the illness and wellness perspectives. However, support from family and friends and trusting relationships with healthcare professionals could contribute to a shift toward the wellness-in-the-foreground perspective. The importance of support for persons with mast cell disorders has been reported previously (
      • Nowak A.
      • Gibbs B.F.
      • Amon U.
      Pre-inpatient evaluation on quality and impact of care in systemic mastocytosis and the influence of hospital stay periods from the perspective of patients: a pilot study.
      ;
      • Nicoloro-SantaBarbara J.
      • Carroll J.
      • Lobel M.
      Coping, social support, and anxiety in people with mast cell disorders.
      ), but some of the participants in our study did not feel at ease with talking to close relatives about their situation. These persons had not been offered psychological consulting.

      4.1 Methodological reflections

      The importance of the present study is underlined by the fact that no previous qualitative studies have reported on the experiences of living with SM among persons included exclusively on the base of a bone marrow-confirmed SM diagnosis, and not on specific symptom criteria (i.e., anaphylaxis). Thus, the current study reports a broader range of SM-related experiences in everyday life than has been reported previously. Exclusion of severe comorbidities reinforces the assumption that the experiences shared are SM-related.
      Our study is also unique in including both Adv SM and ISM patients. As we strived to describe the life situation of persons with SM regardless of diagnosis, getting a range in type of SM was given higher priority in the strategic sampling process than, e.g., a range in age or sex. Nevertheless, the two diagnoses differ in various aspects, survival expectancy probably being the most obvious. Therefore, a tentative comparison of perceptions between the two sets of patient groups were performed but future follow-up studies would benefit from using a larger patient material, enabling separate analyses of the ISM and Adv SM groups, to better outline specific aspects of each type.
      Some other aspects also need to be taken into account when considering the findings, including that a majority of participants were female and that there was a large range within and between the diagnoses regarding the time from the first symptoms to diagnosis and the time from diagnosis to interview. The time factor can affect how the participants experienced living with SM. Furthermore, as the participants had at some point been referred to a university hospital, the sample might consist of persons with a more severe disease.

      4.2 Implications

      The major implication of our study is that healthcare professionals must be aware that SM patients frequently have more symptoms than are apparent at first sight, and that these symptoms negatively impact their everyday life. There are SM-specific questionnaires for assessing symptom severity and QoL impact (
      • Siebenhaar F.
      • von Tschirnhaus E.
      • Hartmann K.
      • Rabenhorst A.
      • Staubach P.
      • Peveling-Oberhag A.
      • Wagner N.
      • Martus P.
      • Carter M.C.
      • Metcalfe D.D.
      • Church M.K.
      • Maurer M.
      • Weller K.
      Development and validation of the mastocytosis quality of life questionnaire: MC-QoL.
      ,
      • Siebenhaar F.
      • Sander B.
      • Ho L.H.T.
      • Ellrich A.
      • Maurer M.
      • Weller K.
      Development and validation of the mastocytosis activity score.
      ;
      • van Anrooij B.
      • Kluin-Nelemans J.C.
      • Safy M.
      • Flokstra-de Blok B.M.
      • Oude Elberink J.N.
      Patient-reported disease-specific quality-of-life and symptom severity in systemic mastocytosis.
      ;
      • Taylor F.
      • Akin C.
      • Lamoureux R.E.
      • Padilla B.
      • Green T.
      • Boral A.L.
      • Mazar I.
      • Mar B.
      • Shields A.L.
      • Siebenhaar F.
      Development of symptom-focused outcome measures for advanced and indolent systemic mastocytosis: the AdvSM-SAF and ISM-SAF(©).
      ,
      • Taylor F.
      • Li X.
      • Yip C.
      • Padilla B.
      • Mar B.
      • Green T.
      • Oren R.
      • Boral A.L.
      • Lin H.M.
      • Shields A.L.
      • Gotlib J.
      Psychometric evaluation of the advanced systemic mastocytosis symptom assessment form (AdvSM-SAF).
      ) which can easily be incorporated into the clinical routine. Second, the study clearly shows the importance of repeated and comprehensive information about disease and treatment. Here, coordinated multidisciplinary care is needed to optimise SM patient care. Third, keeping the patient perspective of illness or wellness in mind is key to building confidence in the healthcare system and therefore contributes to the patient's transition towards the wellness perspective.

      5. Conclusion

      This study provides new insights in the everyday life of people with systemic mastocytosis. The disease has a considerable and multifaceted impact, with daily efforts made to avoid triggers and manage symptoms and medication side effects. The complexity and rarity of the disease complicates relationships with healthcare professionals and feelings of marginalisation and alienation are common. The participants described vulnerability, making an illness-in-the-foreground perspective apparent, but used a multitude of strategies in their striving for resilience. Trusting relationships with healthcare professionals, family members and friends promoted a wellness-in-the-foreground perspective.

      CRediT authorship contribution statement

      Kerstin Hamberg Levedahl: Conceptualization, Methodology, Formal analysis, Investigation, Writing – original draft, Project administration. Annika Nilsson: Conceptualization, Methodology, Formal analysis, Writing – review & editing, Supervision. Johanna Ungerstedt: Writing – review & editing, Validation, Visualization. Mariann Hedström: Conceptualization, Methodology, Formal analysis, Writing – review & editing, Supervision.

      Declaration of competing interest

      The authors declare no conflict of interest.

      Acknowledgments

      We wish to thank all the participants for sharing their experiences with us, and professor Hans Hägglund for contributing to the primary conceptualization of the study.

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