The Ripple Effect: A Qualitative Overview of Challenges When Growing Up in Families Affected by Huntington’s Disease

Sample and setting

Qualitative data was gathered in 2018 as part of a larger study with the aim of describing the experience of growing up in a family affected by HD. In this paper, we focused on areas the participants described as challenging, in order to provide a preliminary framework for areas of focus in the provision of support for this group.

Anyone in Norway over the age of 12 years who had, or used to have, a parent with HD was invited to participate in the study. Information about the study was distributed in several settings where individuals who had grown up with a parent with HD could be reached. Information was distributed verbally and through information sheets. The main locations for distributing information included educational courses for families affected by HD and venues for family interactions with counsellors at the Oslo and Haukeland University Hospitals, and St. Olavs Hospital. Information about the study was also distributed through Facebook and the Norwegian Association for Huntington’s Disease. The information sheets outlined the research purpose, provided information about the interview topics, and provided the main researcher’s name and contact information.

In response to formal and informal information and invitations, 42 participants gave their initial written consent to participate. Of these, six people could not be reached when contacted for an interview. A total of 36 participants were interviewed and included in the analysis. The participants’ demographics are presented in Table 1. Participants ranged in age from 13 to 65 years (M_age = 36.6 years). The study included current and retrospective experiences of growing up with HD. The first interviews revealed that older participants were able to look back and contribute specific, emotionally laden, and vivid memories from their own childhoods. Inclusion of this subgroup was seen as ethically important, and their contribution was believed to potentially shed a different light on the findings.

Data collection and processing procedures

An interview guide was created, based on the relevant literature and feedback on the guide’s relevance from clinical experts. A group of user representatives (individuals with personal experience of being a carer for a parent with HD, or a partner with HD in families with children) also provided feedback on how the questions were understood, as well as on their completeness and relevance to the selected topics and research questions. Individual semi-structured interviews were conducted, focusing on both the challenges and protective factors, in order to cover the scope of the larger study. Semi-structured interviews permitted an open exploration of the interviewees’ experiences, while the structure helped the interviewer to focus on specific issues. Table 2 displays the interview topics and sample items. Interview topics included the participants’ childhood narratives and family situations, their relationships with parents, their understanding or lack of understanding of HD as a child, openness about the disease, and experiences of support. On average, the interviews lasted 60 minutes (range: 27 minutes to 90 minutes). Face-to-face interviews were preferred (n = 33), but telephone interviews were an option for some participants (n = 3). Interviews were mainly conducted at the Centre for Rare Disorders at the Oslo University Hospital or in the homes of a few participants. Interviews were conducted by postgraduate psychology students from the University of Oslo and University of Bergen, or by trained health professionals at Oslo University Hospital in Norway. The students had no previous experience with HD, but the health professionals from the Centre for Rare Disorders had previous experience of researching the disease. Counsellors from the Centre for Rare Disorders, with long clinical experience of HD, were involved in planning the study and developing the interview guide, but due to their potential knowledge of, and connection to, potential participants, they were not involved in the data analyses or the interpretation of the results. An inductive (data-driven) approach to analysis was chosen, where data were collected and coded without trying to fit them into pre-existing clinical preconceptions [22]. Our analysis did not set out to prove or disprove hypotheses or clinical evidence; rather, it sought to collect participant-driven data from which an understanding of challenges associated with growing up in families affected by HD could be developed. All the interviewers had, or received, formal training in qualitative methods before conducting the interviews. The interviewers had no previous contact with the study participants. To ensure the fidelity and consistency of all interviewers’ practices, the project manager, who was an experienced and licenced clinical psychologist, participated in at least two interviews conducted by novice researchers; hence, supervision regarding interview techniques and clinical safeguards could be provided if needed. The project manager also discussed and supervised the need for a follow-up with participants after the interviews.

Data analysis

The interviews were recorded, transcribed verbatim, and subjected to a qualitative thematic analysis that investigated common themes relating to the challenges described by the participants. The project manager performed sample tests on the correspondence between the interviews and transcripts to ensure accuracy. The analysis followed the structured guidance of Braun and Clarke [22]. The first and second authors, who were not involved in the interviews, initially became familiar with the data by reading and re-reading the interview transcripts. Prevalent topics were noted during this stage. The first and second authors then generated initial codes by isolating phrases, sentences, and paragraphs, and generated a list of codes representing every transcript. Code reliability was subsequently assessed by comparing the codes generated by the first two authors with those of the project manager (third author). The lists of codes were collated to search for themes according to the similarities between them. Themes were chosen for their prevalence in relation to the research question. These themes were reviewed against the data and discussed between the three authors until full agreement was reached; the final themes were then determined and named. Finally, the report was produced. The analysis was seen as a recursive process, and detailed notes were written throughout.

In line with the study’s aim to present a qualitative overview of common themes, all the challenges described by the participants were included in the analysis. No challenges failed to fit within the categories that emerged from the data and constituted the main themes. The most commonly described challenges within each main theme were included as sub-themes and/or will be described in the results section. Quotes that represented the themes were selected and translated from the original language into English. The participants were given pseudonyms to preserve their anonymity.

To account for the large age range of the study participants, the experiences of the two age groups were compared during the analysis. The first group included teenagers and young adults who had had experiences reflecting contemporary support systems (13 to 35 years), and the second group included adults older than 35 years, whose experiences might reflect different societal attitudes and/or experiences of support (36 to 5 years). For some participants their parents had been diagnosed or developed symptoms of HD in their early childhood, whereas others had experiences of the disease during later childhood and adolescence. The interviewers asked participants to provide their approximate age when sharing childhood memories. Given this study’s focus on childhood experiences, only accounts described as childhood memories (approximately 0 to 18 years) were included in the analysis.

Ethical considerations

The regional ethics committee in Norway granted approval for the study (2017/864347). Written consent was obtained from all the participants and they were informed of their right to withdraw at any time. Confidentiality of participant information was ensured throughout the research process. In addition to adult participants’ own consent, parental consent was obtained for participants under the legal age for health consent (16 years in Norway). The larger study did not exclude participants with a pre-symptomatic or symptomatic diagnosis of HD. Given the genetic specificity of HD, some participants could have inherited the disease and might have symptoms of HD. Since HD does not affect long-term memory [23], affected individuals may recall their childhood without major interference from the disease. To evaluate validity and assess whether data from affected participants should be included, a clinical screening of insight, awareness of symptoms, and life situation was included during the interviews. Patients with communication or cognitive functioning difficulties that might have affected their participation in the in-depth interviews would have been excluded from the data, but no participants were excluded from the study on this basis.

Due to the sensitivity of the topics discussed during the interviews, relevant referrals or subsequent follow-ups were arranged by the trained clinical psychologist performing the interviews, if necessary. All the participants received a follow-up call within two weeks after the interview to assess the need for referral to a clinical psychologist. Three participants wished to receive follow-up after the interviews and were referred to a clinical psychologist.

Theme 1: Family functioning

Participants in this study gave narratives of a variety of examples of household dysfunction in their upbringing, that included challenges with the characteristics of HD, family dynamics, diseases other than HD affecting the family, their living conditions, and experiences of adverse or potentially traumatic events. Although the severity and impact the disease had on family functioning varied between individuals, these experiences did not appear to differ substantially between the group of teenagers and young adults, compared to the older participants.

Theme 2: Emotions and reactions

Participants gave consistent descriptions of a multitude of emotional challenges during their upbringing. These were often related to how participants experienced the disease and impressions of their childhoods, the emotional impact of potentially inheriting the disease, and their feelings and reactions to information about HD.

Theme 3: Social functioning

Several of the challenges experienced by the participants extended beyond the impact HD had on their family. These descriptions included how the disease had impacted their ability to maintain normal social lives, such as through peer relations or participation in social activities in the communities where they lived.

Theme 4: Public and care services

Participants indicated a multitude of challenges influencing their encounters and experiences with the public, health, and social care system.

The impact of HD on family functioning

Growing up in a family affected by HD had presented multiple challenges to how the participants’ families functioned. Similar to findings from previous studies [7, 9, 12, 24], many felt that they had to be the caregiver, and that responsibilities such as chores, caring for siblings, and personal and social care for their sick parent, often fell on the young people in the family. The psychological and cognitive symptoms of HD described, including inhibition, irritability, and aggression, had interfered with the appropriateness of responses and actions of parents and had severely impacted the relationships between all the family members. These symptoms had been apparent before physical symptoms were present or a diagnosis was made, and were emphasised as particularly disrupting and confusing during childhood, and experienced as more challenging than physical symptoms. The negative impact HD can have on dynamics in a family has been well documented [5, 9, 10, 13]; however, there is limited knowledge, so far, on how prodromal symptoms impact young people who have a parent with HD. The findings therefore provide new knowledge suggesting that children who grow up in families affected by HD may be particularly vulnerable to prodromal psychiatric and cognitive symptoms in the affected parent, even in the very early stages of the disease. Based on our results, it should be a priority to identify young people living in families impacted by HD, and to provide early intervention and support. Young people in this situation may require help to develop useful coping strategies. They will need information about the early symptoms of HD, in order to increase their understanding and appropriate interpretation of changes occurring in their parent as a result of the disease. Both practical and emotional support should be offered to young people to help them effectively deal with the complex caregiving tasks, and the challenges associated with changes observed in their parent at home.

Participants in this study were also commonly exposed to adverse and potentially traumatic events in their upbringing. To date, only a few studies have described how young people in families affected by HD may be exposed to adverse and possibly traumatic events during their upbringing [13]. Although little is known about how adversity in families affected by HD may have an impact on young people in the long term, these possible risks should not be underestimated. Being exposed to continuous stressors, instability, and adversity during childhood and adolescence can change a child’s biological, psychological, and social trajectories and lead to immediate and long term consequences for their mental and physical health [6, 25–27]. We believe it is vital to provide support to families impacted by HD to minimise possible risks to family functioning, and to help young people cope with the possibly adverse or traumatic events they may experience. We also strongly suggest that the adverse and/or potentially traumatic events this population may have to endure needs to be further researched.

The impact of HD on emotional and social functioning

The emotional strain and negative impact HD had on the participants psychological wellbeing is a major area of concern. Growing up with a parent with HD included persistent feelings of instability, insecurity, and/or fear, as well as the presence of additional emotional strain during their upbringing. Clinical experience and previous studies have supported our findings regarding the multitude of emotional challenges experienced by young people who have parents with HD [9, 13, 17, 18, 28] and have indicated that many struggle with anxiety and depression [8]. For participants in our study, psychological wellbeing and adjustment to the disease appeared to be negatively influenced when they were given little or no information about HD; information that would have explained the changes they observed in their parents’ behaviour. Previous work indicated that the level of information and explanation given to children about HD may be essential for young people’s emotional adjustment, influencing self-esteem, anxiety, distress, and feelings of isolation [9, 10]; thus, a combination of chronic stressors and emotional challenges, brought on when a parent has HD, may present a high risk to the psychological wellbeing of young people. Appropriate help and support for coping with the emotional impact HD can have on wellbeing should therefore be a priority.

To help with these emotional strains, facilitating peer support may, in some cases, be more beneficial than support from health or care services [8, 9, 19, 29]. Lacking peer relationships and support through social activities may increase the risk of poor psychological adjustment, causing social isolation and stress [18]. For the participants in this study, complex interactions between the demanding family environments and the psychological strain caused by the disease also affected a variety of social factors, such as the ability to maintain peer relationships and socialise within the communities where they lived. Previous work also suggested that the demanding and unpredictable everyday lives at home, for young people in families impacted by HD, limits the ability to partake in social and organised activities [8, 9]. Formal and informal support services should refer young people to available arenas for peer support, such as the Huntington’s Disease Youth Organization (HDYO), Young People Affected by HD (YPAHD), and the Huntington’s Disease Society of America’s National Youth Alliance (NYA). These services can easily be used to connect with others in similar situations, possibly decreasing feelings of isolation, loneliness, and lack of social support.

Experiences with public health and care services

Another major area of concern was the multitude of problematic experiences the participants had with public, health and care services. Available research has suggested that almost half the young people in families affected by HD have limited time for school [8], and they describe poor performance in school as a result of the difficulties of multitasking with the responsibilities at home [24]. Participants in our study had also been struggling with participation and performance in school, and felt a lack of appropriate support from school to cope effectively. Their difficulties at school appeared to be intertwined with other challenges brought on by HD, such as difficulties with peer interactions and, importantly, a lack of motivation linked to the fear of inheriting the disease; hence, growing up with a parent with HD may limit educational and occupational opportunities. School employees should be aware of how having a parent with HD can potentially adversely affect educational and occupational trajectories, and aid in the facilitation of young people’s motivation, participation, and performance in school.

The participants’ interactions with available health and social care providers were also, often, described as challenging; many felt they had not received adequate or appropriate support, and they were often left frustrated by a lack of information and appropriate action from health and care services. Few studies have specifically investigated the provision of support for young people in families affected by neurodegenerative diseases [8, 18, 29], and results from past research have often drawn on small or very mixed samples [5, 20, 21]. Available research has, however, suggested that, despite a need for support, young people may still feel that the impact the disease has on their childhood is overlooked by the available services [8, 18, 19]; hence, although both formal and informal services are available, those services may not be provided to families affected by HD, as there is a lack of understanding and information available about the impact of HD can have on young people, which may lead to inappropriate or inadequate support. A lack of understanding, and a lack of appropriate measures taken to help young people in families affected by HD, may leave support providers in danger of further exacerbating feelings of loneliness and isolation that are already a challenge in their lives. The impact of being a young carer, combined with the general lack of sufficient support described in this study is a highly serious matter. Health is an important theme in all the human rights conventions, and all governments are obliged by law to protect the health and wellbeing of children. Children have a right to grow up in environments that does not negatively impact their well-being, a right to be conferred in matters that affects them and their families [30], and governments should make sure that young people’s tasks as carers does not negatively affect their own health [31]. Seemingly, the multitude of complex tasks of growing up with a parent with HD described by many of our participants could be in violation of these rights. Health and care professionals in contact with families affected by HD need to have sufficient knowledge and awareness of the complex ramifications of HD for young people, in order to adapt their provision of services according to individual rights and needs.

Ripple effect

The multiple burdens of having a parent with HD, as found in this study, cannot be overstated. Our findings demonstrated a substantial need for more awareness and knowledge about the complex impact HD can have on young people in affected families, and a need to promote the provision of more youth-focused support, at all levels of services and within multiple areas of life, for this group. To decrease the gap in the provision of support, promoting awareness and knowledge that can easily be applied would be valuable. The overview of challenges highlighted by this study, can provide a useful template to guide the areas of young people’s lives that need to be explored and possibly supported by service providers that are contact with families impacted by HD. To understand the support needs of young people affected by HD, our results could be applied within a bioecological framework [32], as illustrated in Fig. 1. The bioecological model of human development has been used to explain how children’s development is affected by their environment in many ways. By applying the challenges provided by the participants in this study within a well-established framework of human development, awareness and knowledge about the multiple risks presented by HD for young people would be more easily accessible to a broad range of support services, including families, social networks, and public health and care services. According to this framework, and in line with this study’s findings, human development is influenced by a continuous interaction between internal and external environments, and a disruption at any significant point in a child’s life will create a ‘ripple effect’, possibly impacting all other areas of the child’s life [25, 27, 32, 33]. The immediate environment during childhood, such as the family environment, will have the greatest impact on developmental outcomes [32, 33, 34]. Correspondingly, previous research, clinical experience, and the current study have strongly suggested that the impact HD has on family functioning is a key challenge during upbringing. The rupture in the normal fabric of family life, created by their parent’s disease, influences a variety of factors outside the family. Our study demonstrated complex and constant challenging emotions and reactions, and a variety of difficulties with peer relationships and social support. The challenges posed by having a parent with HD interacted and appeared to ripple through many areas of life. Even when resources were available, the participants in this study clearly stated that they were in need of support, care, and understanding, now and during their upbringing. Young people currently affected by HD in their families will be at school, will be in contact with teachers and guidance counsellors, and will probably be in contact with multiple public health and care providers. For appropriate, early, and effective help with the multitude of challenges this group may be facing, it is vital to provide support services with sufficient knowledge and an appropriate understanding of the possible risks HD may pose for the lives of young people. Any source of support can use this framework to ask young people appropriate questions on how they experience and are coping in areas at risk highlighted in this study.

Fig. 1

Areas of life impacted when growing up in families affected by HD, illustrated within a Bioecological framework.

Strengths and limitations

This study offers a framework to understand the ‘ripple effect’ on challenges posed on the lives of young people by having a parent with HD. The presented template can be used to guide knowledge and awareness about how growing up with a parent with HD impact children, in order to support, at any level, the provision of more youth-focused intervention and family care; however, further research is still needed to establish the specific support needs of this group. From a qualitative perspective, the study’s relatively large sample is a major strength. Participants were broadly recruited and believed to be representative of the population under study; nevertheless, the qualitative nature of the study may limit the generalisability of the results. The participants in this study were teenagers and adults reflecting on their upbringing, and adult participants’ memories may have been affected by the time that had passed since the events. The results, particularly considering experiences of support from health and care services for older study participants, did not reflect current support services, such as web-based education, information, and support; youth summer camps; or counselling services. Nevertheless, older participants presented vivid and specific childhood memories, and their accounts of the impact of HD had on their lives were of equal importance. The study focused on experienced challenges, so evaluations of strengths, positive childhood impressions and emotions, and coping mechanisms were not included in the present paper. We acknowledge that there may be several aspects of growing up with a parent with HD that was not accounted for by this study, including factors that could moderate or protect against the challenges of HD, and experiences of challenges that went beyond childhood and adolescence for the adult participants. However, the present study is a part of a larger study, and further in-depth exploration of coping strategies and beneficial experiences will continue to be explored. Finally, the present study described the perceived challenges as a representation of a bioecological understanding of human development at a very basic level. This was done to provide a working template for the provision of support and understanding for young people in families affected by HD. Future studies could test the model or provide support for the effective application of this theoretical framework.

Conclusion

This qualitative study provided a participant-generated overview of areas of risk for young people growing up with a parent with HD, demonstrating how HD creates a ‘ripple effect’ on challenges, affecting multiple areas of life. The participants emphasised challenges within four domains during their childhood and adolescence: family functioning, emotions and reactions, social functioning, and public health and care services. Importantly, our findings indicated that young people with a parent with HD may be at high risk of harmful short- and long-term effects on their mental and physical health. The study also identified a gap in the provision of appropriate support from formal and informal health and care services for effectively dealing with the strain caused by having a parent with HD. Our findings highlighted the need for early intervention and collaboration between all support services for people growing up with a parent affected by HD. When applied within a bioecological framework the findings can be used to promote awareness and understanding among support providers about the complex impact the disease can have on young people. We have identified the risks that were emphasised by most of the participants, despite individual differences, differences in age, and differences in the availability of services. By recognising these similarities, we can enhance our knowledge about the challenges HD poses for the lives of young people and develop a better understanding of the need for formal and informal sources of support for this vulnerable group.