Adrenal Insufficiency in Young Children: a Mixed Methods Study of Parents’ Experiences

Qualitative interviews were conducted with parents in the UK. The interviews were semi-structured, encouraging parents to disclose a full and rich account of their experiences (Smith et al. 2009) at the same time as allowing the researcher to maintain a focus and guide the interview, rather than dictate its direction (Bold 2012). Interview questions were open (‘tell me about…’) and designed to gain a better understanding of parents’ experiences and the psychosocial impact of AI/CAH, from diagnosis to the present. The interview topic guide, informed by findings from the initial literature review, included diagnosis, treatment, impact, information and support and hopes and concerns for the future. A pilot interview was conducted with a parent of a child with CAH—the parent was British but was living outside of the UK at the time. Parents were recruited via the Living with CAH support group in the UK using a purposeful sampling strategy. Purposive sampling is a non-random approach, often used by qualitative researchers to identify and select participants who meet certain criteria. Recruitment material (an advert and information sheet) was disseminated to potential participants via newsletters, members’ news alerts and websites, inviting parents to contact the research team. Parents (both mothers and fathers) of children aged 10 and younger were included in the sample. Those parents whose children were aged over six were asked to focus on their earlier experiences (i.e. their child’s first 6 years of life). Interviews took place between September and December 2014. A small number of the interviews were conducted with both parents present, although typically just one parent chose to take part. The majority of interviews took place within the family’s home and lasted approximately 1 hour.

The interviews were transcribed verbatim by a professional transcribing company who had signed a confidentiality agreement. Transcripts were read and checked for accuracy. The transcripts were then analysed thematically by a member of the research team (AS) with the support of assisted qualitative data analysis software, NVivo 8. A number of strategies can help researchers to achieve analytical depth (Ziebland and McPherson 2006). The coding structure developed over time, as data were coded under both anticipated themes (such as those identified in the literature and those included in the topic guide) and new emergent themes. Following the initial steps in the analysis process, in order to clarify the main topics under each overarching theme, all of the coded data were exported to theme-specific files and a further round of analysis was conducted. A second member of the research team (AH) checked the coding structure and the data coded against it. Research team members AS and AH met regularly throughout the data collection and analysis stages of the study to discuss and clarify emerging themes. Findings were also discussed with a wide range of stakeholders including parents and professionals of different disciplines (via project steering group meetings and conferences), providing the opportunity to consider a variety of insights and interpretations.

The interview approach allows for participants to talk at length about their journeys and offer a more in-depth account of their experiences, including how their experiences may change or improve over time. Contrastingly, surveys capture a snapshot of views at the time point of completing the survey. We developed an online survey to further explore the anticipated and emerging themes and related issues with a larger number of respondents. This manuscript focuses specifically on items assessing parents’ experiences included in the larger online survey which also examined the impact of CAH/AI on children and use of health services/other types of care.

The survey was disseminated to parents of children with AI (including CAH) under the age of six in the UK, the Netherlands and Germany. The decision to pilot, translate and disseminate the survey in these countries was a pragmatic one based on available resources and existing links with active patient groups and endocrinologists.

The coding framework developed during interview analysis formed the basis of the survey development. Open and closed questions were included to explore a range of key issues including those related to getting a diagnosis, the psychosocial impact of living with the condition, support and awareness, surgery and treating and monitoring the condition. Existing published survey tools were assessed but were found not to meet the aims of the study. Members of the research team (AS, AH, RR, MJW and SD) contributed to the formulation of the research questions. The survey was developed and piloted initially in English with a small number of parents in the UK. Feedback from the parents on the English survey helped to validate content, test parents’ interpretation of questions and to assess the feasibility of completing the survey. The survey was then translated into Dutch and German, checked for language accuracy and piloted by native speakers: a parent in the Netherlands and an endocrinologist in Germany. As such, both also had knowledge of AI and healthcare provision in those countries.

The survey was distributed via patient and parent support groups including the Living with CAH Support Group (UK), the Addison’s Disease Self-Help Group (UK) and the Adrenal NVACP Association (Netherlands). In addition, the survey was advertised via paediatric endocrinologists and their outpatient clinics in Germany. The survey was live for a period of 8 months (July 2015 to February 2016), to allow time for the material to cascade to individuals. Interviewees were not excluded from completing the online survey and due to the anonymity of survey responses it was not possible to determine whether they had. As a result of the recruitment method adopted, it was not possible to calculate a response rate. Due to the sample size, the survey analysis was exploratory and mainly descriptive in nature. Statistical analysis software, SPSS, was used to support the analysis.

In total, 16 interviews took place, with 20 parents (14 mothers and six fathers) of 17 children (nine female and eight male). All interviewees were based in the UK. The majority of parents had children aged 6 or younger at the time of the interview (ages ranged from 3 months to 10 years). Three parents with children over the age of 6 took part and were asked to focus on their experiences during the child’s first 6 years of life.

A number of challenges for parents of children with AI were identified during transcript analysis. These challenges relate to the anticipated themes of the interview topic guide: diagnosis, treating and managing the condition, thinking about the future and practical and emotional support. The themes and subthemes are summarised below and shown with representative quotes in Table 1.

In total, 57 survey responses were received from parents (the vast majority were mothers (75%, 43/57)) of children aged 6 or below. Similar numbers responded from the UK, the Netherlands and Germany. There were three responses from participants living in other countries: one from the USA, one from New Zealand and one undisclosed. These responses are included in the findings presented below, except where we make comparisons between European countries, where they are excluded. In response to the question ‘what is the cause of your child’s adrenal insufficiency?’, the majority (79%, 45/57) of participants stated CAH; 4% (2/57) reported hypopituitarism; 2% (1/57) reported autoimmune adrenalitis; 2% (1/57) did not know the cause of their child’s AI; and 14% (8/57) selected ‘other’. The majority of those with CAH (91%, 41/45) reported that their child had been diagnosed with classic salt-wasting CAH. Of the respondents’ affected children 31/57 (54%) were male, 25/57 (44%) were female and one child was registered as intersex/indeterminate gender on their birth certificate. The survey results reported here relate to those themes and subthemes identified in the interview phase and outlined above. Because of the small numbers of respondents, analysis is restricted to descriptive statistics. However, where the data suggest an interesting contrast (for example between countries) then this is discussed.

The data provide insight into the difficulties that families face prior to or during the diagnosis period and differences in experiences across countries were observed. Such differences have not been documented previously, as research focusing on parents’ experiences of managing the childhood condition has tended to recruit participants from a single country (Fleming et al. 2017a). Awareness of specific rare diseases amongst healthcare professionals is inevitably low, but as with many rare diseases, parents’ experiences suggest that there is probably variation across services in terms of awareness of CAH and the ability to make a timely diagnosis.

The absence of a newborn screening test for CAH within the UK’s NHS means that recognition of early clinical symptoms is key. Research has shown CAH is associated with excess mortality due to adrenal crisis (Falhammar et al. 2014; Swerdlow et al. 1998) and therefore obtaining a speedy and accurate diagnosis is crucial. Many parents felt they had to fight to get the attention of doctors and there was a lack of knowledge about the condition amongst professionals, but this seemed to have more impact in Germany. It is unclear why this should be the case in Germany particularly, but it is of note that a survey of the status of the paediatric endocrinology subspecialty undertaken by the European Society of Paediatric Endocrinology in 2017 showed that both UK and Netherlands had well-established subspecialty training and recognition, whereas Germany had no approved subspecialty (Lebl et al. 2018).

The interview findings from the UK described at length parents’ experiences in relation to the burden, disruption and latent anxiety associated with the importance of dosing correctly. Parents experienced a conflict between the pressure to medicate at the right dose, and the requirement for them to (for example) crush tablets of a larger dose, which is the general practice in the UK. In the Netherlands and Germany, common practice is for pharmacists to prepare the medicine. Such differences in practice may in part explain the variation of responses by country which are suggested by the data. At the time of data collection, and until very recently, there was no licenced treatment for young patients hence the requirement to adapt adult preparations. Following a European Commission funded clinical trial, a novel formulation of hydrocortisone has now been developed and approved so that young patients with AI receive child-appropriate doses (http://​www.​tain-project.​org/​).

Survey responses arguably presented a more positive parental experience than interviewee accounts in relation to medicating correctly. This could be attributed to the nature of the two approaches to data capture. Interviews captured parents’ journeys over time (i.e. their experiences from the time of their child’s diagnosis to the present day), whereas the survey captured a snapshot of parents’ views at the time of completion of the survey. Almost 90% of survey respondents had children over the age of one, and so their earliest experiences of learning about and adapting to the regime may not be reflected in their responses. The positive experiences reported by parents may also reflect the simple fact that it is possible to manage the condition through medication, unlike many other rare conditions where access to treatments is very limited (Muir 2016; Limb et al. 2010).

The interview and survey data suggest that over time parents develop confidence and knowledge in relation to managing the condition. However, the data also suggest that it is common for parents to face difficulties in delegating care to others (such as staff in childcare settings or schools), further adding to the burden they experience. These findings are also consistent with previous research focusing on parents’ management of adrenal crisis carried out in the USA by Fleming et al. (2017b). The findings have highlighted the importance of supporting parents to better manage the delegation and transition of care to these individuals.

The data demonstrate that parenthood is impacted to a varying extent by the medical needs of affected children, and this can be manifested in disruption to sleep, to daily routines, to personal life and employment. Such disruption is not surprising given the nature of the care giving role—taking responsibility for an intensive medication regime and attending regular medical appointments. Due to the rarity of the condition, families are likely to be required to travel some distance to access specialist care and treatment. Again, the survey responses were more positive in this respect than the detail that emerged during interviews might have predicted. The survey findings are consistent with the results of a questionnaire study on the functioning of children with CAH and their parents in the Netherlands which found that experienced burden of the condition is low and as children grow older, parents become less afraid of adrenal crisis (Sanches et al. 2012). Again, this might be attributable to the adjustment and coping mechanisms that parents adopt over time whereas the disruption is likely to be more strongly felt in the immediate period post-diagnosis which is a period represented in the interview data but less so in the survey data. In addition, appointments with specialists may be more frequent during this time in order to establish appropriate care plans, and parents may be more likely to seek advice from professionals about their child’s symptoms and the appropriate course of treatment during times of stress and illness.

Parents reported concerns they have for their child in the future and this finding was consistent across the interview and survey data. As with other rare diseases, parents worry about their children facing health challenges as they grow up, feeling different to their peers (especially at school), and about whether the transition to care provided by adult health services will be effective (Muir 2016; Limb et al. 2010). This latter concern is borne out by an assessment of a UK endocrine centre which found that half of all young people with CAH referred to the specialist adult service between 3 and 10 years earlier were no longer attending (Gleeson et al. 2013).

Interview and survey data around the support received from ‘medical professionals’ (as a general description) were consistent in that both gave a mixed review about of the levels of knowledge about the condition. It is an unavoidable feature of rare diseases that specialists are scarce, and the lack of knowledge amongst professionals providing health services locally is a common challenge for rare disease patients (Limb et al. 2010).

Interviewees reported positive experiences with psychology support services, but the survey data show that very few families had access to this kind of support; parents’ concerns revealed in the interviews are wide ranging and a source of anxiety and demonstrate the need for parents (not only patients) to be better supported psychologically to come to terms with the diagnosis, make difficult decisions about surgery and to communicate with others about the condition. This finding is consistent with other research with parents in the UK and Sweden which concludes that parents face diverse challenges, requiring support which addresses other skills beyond managing the condition (Lundberg et al. 2016).

Interviewees reported the value of connecting with other families to share experiences and practical advice. Perhaps surprisingly, the survey data indicate that a minority of participants in this study access this kind of contact and support despite most participants being recruited via patient organisations. As such, a case could be made for increasing the reach of such peer support activities. In part, this finding may also reflect how parents’ confidence and ability to manage their child’s condition develops over time.

In light of these gaps in support provision, there is some reassurance in the finding that two thirds of survey respondents felt that they had been able to access all the support and information they need. Interestingly, a higher proportion of fathers compared to mothers felt they had been able to access all of the support and information they required. Mothers are more likely to be at home with their child during maternity leave and as such are more often the primary caregivers responsible for daily monitoring and treatment of the condition during the early months of their child’s life. In addition, higher proportions of mothers reported disruption to their work. Tailored support should be provided for new mothers in their caring role and in helping them transition back to work when they are ready.

A number of the findings have implications for healthcare professionals. In the UK, the lack of a screening programme meant 38% of newborns presented with an adrenal crisis, which was distressing for the parents and is likely to have had a long-term impact on their view of the condition. Ironically though, this may have helped them to access specialists sooner than parents in Germany. It is important in healthcare systems that awareness around adrenal crises is improved and that there is a pathway for rapid referral to clinicians with experience in treating adrenal failure. Genetic counsellors have a role in talking with families about the recurrence risk for future children and previous research has also highlighted the importance of their role in supporting parents to communicate with other family members following diagnosis (Abad et al. 2017). Such support may be crucial in identifying others at risk and ensuring early diagnosis.

The study identified that although parents gain confidence and adjust over time, they face particular challenges following a diagnosis. Good support and communication with parents during the diagnosis period is important to start to equip them with the confidence, knowledge and skills they will need as primary carers of a child with AI. For parents of a child with AI who are expecting or planning another baby, genetic counsellors have an opportunity to ameliorate concerns the parents may have around management of a newborn. Sensitive handling of these discussions will need to take into account the early experiences of the parents with their existing affected child, which may have been traumatic. They can work with parents to ensure they understand the timing and nature of the diagnostic tests that will be carried out with their newborn, as well as addressing questions about ongoing care.

Parents were concerned with the challenge of delegating care and understanding what the future held for their child. These concerns need to be addressed by all healthcare professionals but especially through informed psychological support which should be provided to both child and parents throughout childhood, particularly in the period post-diagnosis. More specifically, psychosocial support is required for those families whose child is born with ambiguous genitalia and those faced with complex decisions about surgery. A multidisciplinary, holistic approach, is required to meet the needs of these families.

A challenge for any congenital chronic disease is the impact on the family of frequent hospital visits as well as the requirement to take complex medication and this was reported in this study. Healthcare professionals need to optimise their service to take into account the needs of the family, and treatment regimens need to be as simple as possible and supported by training to reduce parental anxiety around preparation and dosing.

Survey response numbers are small so the quantitative analysis was restricted to descriptive statistics. However, together the two approaches triangulate the data and provide a more detailed insight into experiences than studies which employ a single method. The mixed methods approach also offers a better understanding of how parents’ experiences might change over time. The survey is a new instrument, based on our interview findings. As such, statistical comparisons cannot be made with research with other populations. The majority of participants were recruited via support organisations which may be considered to bias the findings. Further research is required to reach a wider range of families in order to guide development of resources and support for all families.

The key value of our study is that it provides an insight into the wider impact of the condition, beyond a clinical and biomedical focus, in three countries using a mixed methods approach. The content and focus of the survey were guided by the themes that emerged from the voice of interviewees in phase 1. Researchers have claimed that the views of those affected by rare conditions have been neglected within research (Huyard 2009) and little is known about the wider impact on families of children with rare diseases (Dellve et al. 2006). Such an approach can provide insights into the social context in which participants live (Shah and Priestley 2011) and can identify unmet needs and issues within health services and ultimately lead to improvements (Thorne et al. 2002; Ziebland et al. 2013).

The study complements and builds on other research with parents of children with AI/CAH. Given that previous work has identified that parents of children under five feel less able to manage the condition than those with older children (Fleming et al. 2017b), the study offers a valuable perspective by focusing on the experience within the first 6 years of parenthood and provides key insights across four key themes: diagnosis, treatment, support and the future. Previous studies have also been limited in their methods—this mixed methods study recruited parents from both support groups and endocrinologist clinics across three different countries offering a broader viewpoint.

Using the survey tool developed in this study, future research should focus on capturing the experiences of patients and families using the health systems of other countries, and with those who may be less engaged with support organisations, to guide the development of better support for families. Given the importance of good daily management of AI/CAH throughout life, further research is needed around the experience of patients and families during transition of care from parents to other adults (such as in childcare settings); from parents to self-management by the maturing patient; and from child to adult health services. Such research could have an important impact on improving long-term health outcomes.