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From First Symptoms to Diagnosis of Amyotrophic Lateral Open Access Research BMJ Open: first published as 10.1136/bmjopen-2016-014985 on 20 March 2017. Downloaded from From first symptoms to diagnosis of amyotrophic lateral sclerosis: perspectives of an Irish informal caregiver cohort—a thematic analysis Miriam Galvin,1 Rebecca Gaffney,1 Bernie Corr,2 Iain Mays,1 Orla Hardiman1,2 To cite: Galvin M, Gaffney R, ABSTRACT et al Strengths and limitations of this study Corr B, . From first Objectives: Informal caregivers play an integral part symptoms to diagnosis in the management of amyotrophic lateral sclerosis ▪ of amyotrophic lateral Informal caregivers describe the time from first (ALS). The objective of this study was to explore the sclerosis: perspectives of an symptoms to diagnosis of amyotrophic lateral Irish informal caregiver journey from first problem symptoms to diagnosis sclerosis. cohort—a thematic analysis. from the perspective of informal caregivers providing ▪ The caregivers’ perspectives provide valuable BMJ Open 2017;7:e014985. care to people with ALS. insights into the practical and psychosocial doi:10.1136/bmjopen-2016- Design: As part of a semistructured interview, issues on the journey to diagnosis. 014985 information was collected on a range of caregiver ▪ Using an inductive approach the themes identi- demographic details, and from an open-ended question fied were derived from the data. ▸ Prepublication history for their experiences of the time of symptom onset to ▪ Descriptions were provided in response to one this paper is available online. diagnosis. We carried out descriptive statistical analysis open-ended question in a largely quantitative To view these files please and thematic analysis of qualitative data. interview which limited the opportunity to visit the journal online Setting and participants: Home interviews with expand on their experiences. (http://dx.doi.org/10.1136/ informal caregivers (n=74) of people with ALS ▪ It is important to explore experiences before bmjopen-2016-014985). attending the National ALS/Motor Neuron Disease diagnosis and the quality of these experiences Received 31 October 2016 Clinic at Beaumont Hospital, Dublin, Ireland. through in-depth interviews with caregivers. Revised 23 December 2016 Results: This was a largely female and spousal cohort Accepted 19 January 2017 of caregivers, living with the patient for whom they provided informal care. The majority of patients were progressive neurodegenerative condition http://bmjopen.bmj.com/ men and were spinal onset. Caregivers described the which results in loss of physical function due time from first symptoms to diagnosis. Using a to the degeneration of upper and lower primarily inductive approach, the coding was data motor neurons. Up to 50% of patients with driven and the codes and themes derived from the ALS develop a degree of cognitive impair- content of these descriptions. Two main themes were ment.1 There are currently no effective identified (1) problem signs and symptoms (A) noticing disease-modifying therapies, management is and (B) reaction; (2) interaction with the health services. symptomatic, and 70% of those affected die Conclusions: Exploring the perspectives of caregivers 2 within 3 years of symptom onset. In the on October 1, 2021 by guest. Protected copyright. from first problem symptoms to diagnosis provides ∼ valuable insights into the development of the condition, Republic of Ireland, there are 300 preva- impediments to its recognition, help-seeking behaviours lent ALS cases and 110 new diagnoses each 3 and interactions with healthcare services. The journey year. At least 80% of all patients within from early symptoms to diagnosis is important for Ireland attend the National ALS/MND future decision-making, affects readiness for caregiving Clinic at Beaumont Hospital, Dublin. and could negatively impact on caregiver health and Informal caregivers play an integral part in well-being. The early acknowledgement by healthcare the management of ALS with family and 1 Academic Unit of Neurology, professionals of stressors along the journey to friends taking most of the responsibility. Trinity Biomedical Sciences diagnosis, and appreciation of their possible impact on fi Institute, Trinity College They are key gures in care provision, caregivers is important. The separate needs of provide emotional and physical support for Dublin, Dublin 2, Ireland caregivers should be assessed on a regular basis. 2Department of Neurology, patients and often play a central role in clini- – National Neuroscience Centre, cal decision-making.4 6 Beaumont Hospital, Dublin 9, Ireland Correspondence to INTRODUCTION Symptoms and site of onset Dr Miriam Galvin; Amyotrophic lateral sclerosis (ALS) also ALS onset is generally classified as being [email protected] known as motor neuron disease (MND) is a bulbar, spinal or respiratory, with a proportion Galvin M, et al. BMJ Open 2017;7:e014985. doi:10.1136/bmjopen-2016-014985 1 Open Access BMJ Open: first published as 10.1136/bmjopen-2016-014985 on 20 March 2017. Downloaded from of patients presenting with cognitive and/or behavioural METHODS impairment. In the bulbar form of ALS, the muscles used Participants for speaking, swallowing and breathing are affected. It is Participants were consecutively recruited as primary usually characterised by slurring of words, impaired informal caregivers of patients taking part in a longitu- tongue movements and difficulty swallowing. Patients with dinal study of the patient and caregiver journey though spinal/limb onset experience fine-motor disturbances ALS/MND, attending the specialist multidisciplinary and paralyses in the arms and legs, presenting symptoms National ALS/MND Centre at Beaumont Hospital, usually include weakness and/or wasting in the leg and Dublin. Caregiver participants were identified by the arm muscles and fasciculation. Respiratory onset is char- person with ALS as his/her primary informal caregiver, acterised by breathing difficulties and shortness of providing unpaid care and assistance to them. breath.7 Caregivers were approached by a research assistant (IM) during clinic visits, and were provided with infor- Diagnosis mation about the research study. This initial contact was A diagnosis of ALS is primarily based on the physician’s followed up by telephone to establish their interest and interpretation of clinical symptoms and signs, in add- consent to participate. Informed written consent was ition to investigations to exclude other causes.8 ALS obtained from all participants at the time of interview. diagnostic timelines have remained consistent over a Eighty-eight caregivers were recruited to the study, 14 20-year period (1998–2008), time from first symptom to did not complete an open-ended question regarding the diagnosis is a median 12 months.9 Earlier diagnosis can time from first symptoms to diagnosis. This analysis is enable more effective symptom management and care based on data from 74 caregivers who responded to that planning. Diagnostic delays in ALS are associated with question. clinical complexity, the patient either not recognising or denying early or intermittent symptoms, inefficient refer- Data collection ral pathways, the relative rarity and the consequent lack During a pilot-tested, semistructured interview, informa- of familiarity with the condition among general health- tion was collected on a range of demographic and socio- care professionals (HCPs).8 General practitioners will economic factors. In an open-ended question, caregivers only see one or two cases throughout their career.7 were asked about their experiences from the time of Delays in diagnosis can account for a significant propor- symptom onset to diagnosis. This question was formu- tion of total illness duration. This can represent a lated through group discussions with senior and experi- missed opportunity to start treatment with riluzole, the enced members of the clinical staff working as part of only disease-modifying therapy at present. It may also the multidisciplinary service for patients with ALS/ prohibit patients from enrolling in clinical trials at an MND. Patients’ clinical details were available through fi early stage of disease, when the likelihood of bene ting the National ALS Register, for which they had consented http://bmjopen.bmj.com/ from experimental treatments might be greater.10 Delays to inclusion of their codified clinical and demographic also impede referral to multidisciplinary clinics (MDCs), data. which can improve patient outcomes both with respect Interviews took place between May 2013 and to survival and quality of life.311Findings from an November 2014. The face-to-face interviews with only exploratory study noted a mean interval of 19 months the interviewer and participant present, lasted ∼1 hour (median 14.6) from first symptoms to arrival at an ALS and were conducted in the caregiver’s own home by a MDC, and an average of four contacts with HCPs.12 male assistant psychologist (IM) or a female health ser- vices researcher (MG) both members of the research on October 1, 2021 by guest. Protected copyright. Help seeking team. Responses to the open-ended questions, and any The general public has a poor understanding of ALS13 related field notes were recorded in written format by and it is often the case that patients and/or caregivers the interviewer. are slow to seek medical advice. Symptoms may be noticed but medical help is not sought if symptoms are Data analysis not severe, with alternative reasons considered reasons Descriptive statistics summarised demographic, socio-
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