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Shaping and managing the course of a child’s disease: Parental experiences with osteogenesis imperfecta Maman Joyce Dogba, M.D., Ph.D.a,*, Frank Rauch, M.D.a, Ghislaine Tre, M.D., Ph.D.b, Francis H. Glorieux, M.D., Ph.D.a, and Christophe Bedos, D.M.D., Ph.D.c a Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, QC, Canada H3G 1A6 Center of Laval University Research Hospital 10, rue de l’Espinay, QC, Canada G1L 3L5 c Faculty of Dentistry, McGill University, 3550 University Street, Montreal, QC, Canada H3A 2A7 b
Abstract Background: Osteogenesis imperfecta (OI), a rare genetic disease, causes increased bone fragility. The course of childhood chronic conditions particularly rare genetic diseases can be modified by both child and parents. However with limited research, shaping and managing that process is not well understood. Objective: Here we examine how parents of children with severe and mild OI have shaped and managed the condition of their child over time. Our goal is to provide a in-depth understanding of parental responses to OI. Methods: This study was carried out in a pediatric orthopedic hospital located in Montreal, Canada. Using the principles of interpretative description, we conducted semi-structured interviews with 48 parents of children diagnosed with OI. Results: We found that parental responses to their child’ disease are constituted by their feelings and their actions. These responses changed over time. We can report four successive phases: an initial reaction, acceptance, normalization and passing the baton. Each stage affected subsequent stages. Every stage was influenced by the severity of OI, parents’ individual characteristics, their day-to-day experiences and the entourage. Conclusion: Our study contributes to increased understanding of parental responses to OI and to improved parental responses and ultimately the child’s coping. Ó 2014 Elsevier Inc. All rights reserved. Keywords: Osteogenesis imperfecta; Parental responses; Children; Illness and rare disease; Research; Qualitative; Psychosocial issues; Genetics; North America
The trajectory model of chronic illnesses postulates that the course of chronic conditions including rare genetic diseases can be influenced by interactions, persons and their environments.1 Biomedical or psychosocial interventions, known as shaping and managing, interact with the natural history of the disease to alter the course of chronic conditions over time.2
Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. Funding: The author(s) disclosed receipt of the following financial support for the research, authorship, and or publication of this article: the Shriners of North America; the Network for Oral and Bone Health Research (RSBO) and the Chercheur-Boursier Clinicien program of the Fonds de la Recherche du Quebec- Sante (FRQ-S); and the MENTOR program of the Canadian Institutes of Health Research. * Corresponding author. Tel.: þ1 5148424464. E-mail address: [email protected] or dogbaj@ yahoo.fr (M.J. Dogba). 1936-6574/$ - see front matter Ó 2014 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.dhjo.2014.03.002
The course of rare genetic diseases can be modified by coping strategies of both the child and the parents. Parental coping is closely related to child development. Higher family functioning, higher self-esteem and a greater sense of parental control correlate with better psychological and physical health in children with chronic conditions, both directly and indirectly through better social support and stress management.3e6 While parental coping in rare genetic diseases is receiving increased attention, longitudinal design or life course approaches are limited.7,8 We therefore aimed at an in-depth understanding of the progress of parental responses to a child’s disease over time with the aim of informing the development of support interventions.9 Osteogenesis imperfecta (OI), a rare genetic disease of increased bone fragility, affects approximately 1 in 10,000 newborns. Apart from fractures, short stature, limb and spine deformities and restricted mobility, extraskeletal symptoms like blue sclera, abnormalities of the teeth and hearing impairment can be present.10,11 Disease severity
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varies widely, which has led to a classification that currently comprises seven clinically defined types (OI types IeVII), and an expanding number of genetically defined OI types.11,12 The occurrence of fractures in young children may lead to a suspicion of child abuse and neglect, especially in children with milder forms of OI.13,14 The psychosocial consequences of OI can include social isolation, long delays for definitive diagnosis and difficult access to knowledgeable health professionals.15e23 The parental responses over time are not fully understood. The severity of the disease as a determinant of parental responses has been insufficiently accounted for.11,18 To address these knowledge gaps, the present study provides an in-depth understanding of how parents of children with severe and mild OI can alter shape and manage the condition of their child over time.
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initial interviews, parents were met again to check for accuracy of their input and to hear our core findings. Using NVivo 10 (QSR International) we performed a semantic thematic analysis.28 Two authors independently compared their line-by-line transcript coding. The percentage of agreement between codes was 93%e100%. Coding disagreement was resolved by discussion. As patterns became more apparent, dominant categories inside the corpus were identified and considered themes. Coding ended by establishing and checking relationships between categories by generating matrices that systematically compared themes across different groups of parents (parents of children with severe OI versus mild OI, parents of young versus older children, parents with no family history of OI versus with a family history).29
Results Methods The study was performed at a pediatric orthopedic hospital in Montreal, Canada, from July 2011 to May 2013, when approximately 400 children and adolescents with OI, mainly from Canada, the United States, Latin America and Europe, were actively followed. The study is an interpretative description which is a qualitative research design that examines a phenomenon poorly understood in a clinical setting by identifying explanatory patterns among individuals.24,25 Ethical approval was obtained from the Institutional Review Board of McGill University. Using purposeful maximum variation sampling, we recruited parents of children who varied widely regarding disease severity and trajectory.26,27 Variability in disease trajectory was accounted for by the recruitment of parents near the time when their children were diagnosed with OI, when the incidence of fractures is typically high, and then further along the timeline, when symptoms are usually more stable. To ensure variation in the sickness trajectory, we invited both parents who encouraged their children to functional independence, and parents who, often for fear of fractures, tended to discourage their children from the physical activity required for functional independence. Illness trajectory was accounted for by including both parents with a negative discourse around their experiences with OI and parents with a more positive outlook as revealed in previous discussions with hospital staff. We invited parents of children diagnosed with OI and followed at our institution if they were fluent in English or French. A total of 48 parents (34 mothers and 14 fathers) of 39 children were recruited (Additional file 1). Face-to-face semi-structured interviews were conducted using an interview grid developed by the research team (Additional file 2). The 30e60 min interviews were digitally recorded, transcribed verbatim and stripped of identifying information. Between 3 and 12 months after the
We conceptualized parental responses as a series of feelings and actions chronologically organized into four phases: Initial reaction, acceptance, normalization, and ‘‘passing the baton.’’ The phases respectively match the following life developmental stages: neonatal period, childhood and socialization in daycare and school, adolescence and early adulthood. Elements likely to influence parental responses were identified and grouped into four categories: Severity of the disease, day-to-day experiences of parents, parents’ personal characteristics and parents’ entourage. Table 1 outlines parents’ feelings and actions at each of the four stages and influencing elements. There are commonalities and differences across the four stages. Table 2 provides selected illustrative quotes. Phase I: initial reaction This begins with the diagnosis, when parents focus on the medical characteristics of OI. How parents felt Most parents of severely affected children were devastated by the diagnosis. However, parents who waited a long time before obtaining a definite diagnosis generally also felt relieved, as many of them had been suspected of child abuse (Quotation 1). Some reported anger because of the genetic origin of the disease and guilt for having ‘‘caused’’ the suffering to their child. Most importantly, many parents described having different, sometimes contradictory feelings at the same time: devastation and denial, and shock and relief (Quotation 2). What parents did They actively sought information about the consequences of OI, its prognosis and cure through the internet and social media (e.g., OI parents’ group on Facebook).
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Table 1 Summary of the four phases of parental responses to OI in their child. Elements likely to influence parental responses
How parents felt
What parents did
Phase I: Initial reaction The experience of the diagnosis appears to be a strong determinant of parental responses at this phase
A mosaic of feelings Devastation, shock Relief Anger Guilt Denial
Actively search for information about the disease Joining Facebook group Focus on social achievements rather than physical impairments Reflecting on positive achievements (e.g.: child can smile) rather visible deformities
Phase II: Period of acceptance The burden of care appears to be a strong determinant of parental responses at this phase
Disappointed Exhausted
Search for specialized care institutions
Phase III: Normalization The reaction of the child to the disease appears to be a strong determinant of parental responses at this phase
Ups and downs punctuated by the occurrence of fractures Overprotective
Phase IV: Passing the baton The uncertainty of the future
Worried about independent living of the child
Finding out what their future life with OI would be like Redefining new routine of life Focusing on the sickness trajectory, considering the child as ‘‘normal’’ and OI as one of his/her life challenges Prepare the child for a better and realistic future Participating in research Willing to prepare their child to care for themselves Companionship or fully involvement in their child’s health questions
Elements likely to influence parental responses at phase 1 The severity of the disease and day-to-day experiences. Parental responses were influenced by circumstances of the diagnosis (e.g., delay before confirmation or quick diagnosis), prior knowledge of OI and the communication of the diagnosis to parents by health professionals (Quotation 3, 4). Personal characteristics and environment. Parents’ temperaments and personal life situations sometimes explained
Severity of the disease and day-to day experiences Circumstance of diagnosis (e.g.: quick diagnosis, suspicion of child abuse) Prior knowledge of OI (e.g., other person affected in the family, parents in the medical field) Professional and familial burden of the disease on parents Personal characteristics and the entourage Temperament of parents Inquisitiveness (e.g., child became an ‘‘attraction’’) Support Severity of the disease and day-to-day experiences Frequency of fractures Follow-up hospital visits Age of patient Number of people affected in the family Personal characteristics and the entourage Job loss, social isolation, tensions inside the couple Temperament of parents, ability to control life events Pity of families/friends in case of visible deformities Doubt of families/friends for mildly affected patients Personal characteristics and the entourage Temperament of parents, resilience of the child, various sources of support (e.g., self, family, hospitals)
Severity of the disease and day-to-day experiences The choice of the child to start a family
their reactions in Phase I. For example, the diagnosis of OI interrupted the professional and family plans of many. However, the initial reaction depended on the personal environment as revealed by embarrassing situations when their child became an ‘‘attraction,’’ because of short height and deformities (Quotation 5). Phase II: period of acceptance As this phase coincided with the socialization stage of daycare to entering school, parents focused on the social life of their families and the sickness trajectory.
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Table 2 Illustrative quotations. 1. Well the light went on for us; it helped us understand why he was having frequent breaks and so on. It was sort of like, in a sense, a relief for us. But in another sense, it was like, now our son really does have a disease. (I_Father_Fam_Mild_13.2) 2. We were very devastated. And there was a little bit of denial, thinking they must have been wrong. (I_Mother_NoFam_Severe1.2) 3. If I thought there was little hope, I would focus on the positive aspect. Yes, they [people with OI] break bones, but there are things they can do in life. They can live, be happy and have a productive life. Yes. And it is important to let parents see that they have hope. She communicates, she can talk to me. She can laugh. What else do you want from your child? (I_Mother_NoFam_Severe_2.2) 4. We were told that she will not survive, we were told that there was an 80% chance that she will not survive and nobody discussed with us but if she survived. Nobody discussed what we’re going to do. Nobody discussed what the treatment options were. It was all about the negative part. As a parent, you are searching for a type of hope and we would have liked to be given a chance to hope. I_Mother_NoFam_Severe_2.2. 5. [People] wanted to take pictures, right away, they wanted to see. And it was hard because we also had a lot of people at home. They would stare a lot. What’s wrong with him? Why is he so small? I_Mother_NoFam_Severe_2.8. 6. It was exhausting. carrying him every day, but I am his mom I_Mother_NoFam_Severe_28.2. 7. And then after that, it took a while for us to get to a place of acceptance. It probably took about a year. You know, we were wrestling back and forth. So basically it took about a year to get to that place. I_Father_NoFam_Severe_23.2. 8. For financial reasons, I know that I should go back (to work), but I can’t figure out when and how I can do that. I_Mother_NoFam_Severe_19.2. 9. I tried to continue my education, but at one point I was forced to choose (between my school and my daughter) and I chose my daughter. I_Mother_NoFam_Severe_20.2 10. Our friends have never heard of OI, they don’t know what it is. When they finally did hear about the disease through the movie called Unbreakable (2000), they couldn’t understand how she could have the same thing! It almost worked against us. They said: Your children look fine and they are normal height; they can’t have the same thing. I_Mother_Fam_Mild_13.2 11. She is not a child with OI, as far as I am concerned. She is a child and one of the things she is dealing with is that she has OI. I_Mother_Fam_Severe_15.2. 12. The challenges just come and go. There are some years that are very difficult [because of fractures] and other years that are easier. I_Mother_NoFam_Severe_2.1. 13. I am worried about his future. Right now, he is OK but in the future? Hum. If we can get to where he wants to be, I wouldn’t be ready for the transition, for leaving me and going out on a course without assistance, I don’t think I’ll ever be ready for that boy. (laugh) Maybe later, but not now. I_Mother_NoFam_Severe_12.2. 14. As a mom I am concerned about her having kids. I hope they don’t have to go through what we went through, all the suffering with a disabled child, fighting to find a school, fighting so that she is acknowledged as any other kid, a normal person. But if they do have to go through it at least we’ve been through it before so we can help them. I_Mother_FamMild_13.2
How parents felt Most reported feeling disappointed and exhausted as they realized the daily implications of caring for a child with severe OI (e.g., carrying, bathing) (Quotation 6). What parents did Much time and resources were dedicated to the search for specialized care institutions. Efforts were made to accept their child’s condition. Most often, parents reported moving back and forth between negative feelings and efforts to stress the bright side. This argues for an iterative and nonlinear process between phases (Quotation 7).
individual temperament and how much control parents could exert on life events. This was illustrated by the report of mothers who reduced their professional activities to care for their children. While some came to be satisfied with their decisions, others were frustrated for losing control over their lives by choosing to be the ‘‘stay-home parent’’ (Quotation 8, 9). The surroundings of families of severe versus mild disease burden differed. Most parents of severely affected children were pitied by friends and neighbors, whereas parents of mildly affected children were shocked that others questioned the diagnosis because of the lack of deformities and normal height (Quotation 10).
Elements likely to influence parental responses at phase II
Phase III: normalization
The severity of the disease and day-to-day experiences. In severely affected children, parents described increased burden of care due to fractures, frequent follow-up visits for medical treatment, surgical interventions and consultations with rehabilitation specialists. Parents of children with mild OI reported only annual follow-up visits to specialized clinics. The disease burden was greater when children were younger and when more than one child was affected.
How parents felt Most parents redefined what their ‘‘new normal’’ would be and educated their children accordingly. They stressed that previous phases influenced the normalization stage. Among parents who stressed being able to focus on the sickness trajectory of OI, some defined their children as normal with one added challenge, that of living with OI (Quotation 11). Other parents who focused on the disease trajectory described the course of OI as periods of ups and downs punctuated by the occurrence of fractures and other complications (Quotation 12).
Personal characteristics and the environment. Adjusting to the psychosocial consequences of the diagnosis (e.g., job loss and social isolation) was an important step to the acceptance of the disease. Parents’ perception of these consequences added to the burden of care depending on
What parents did Parents reported trying to prepare their child for a better future either by getting involved with the school to ensure
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better integration, or by participating in research to improve care options for OI. Some regretted becoming overprotective; however most were confident about being able to prepare their child for independent living. Elements likely to influence parental responses The ability of the child to cope with his condition was a core component to parental responses and the resilience of their child was often mentioned as a great inspiration to many parents. Personal characteristics and the environment Parents tended to react according to their temperament and their sources of support were mainly their own inner resources, church, family and hospitals. Phase IV: passing the baton This final stage, corresponding to adolescence and young adulthood is called ‘‘passing the baton’’ to the child with OI. Here, when severely affected patients transition from the pediatric setting to adult health care institutions, parents expect their child to manage his own life. Usually, patients with mild OI will live independently. For severely affected patients, parents adopted either a companionship or managerial stance depending on the child’s level of autonomy. How parents felt Most parents reported feeling a sense of achievement once their children have a successful professional and
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family life. Meanwhile, parents with severely affected children experienced worry about the future (Quotation13). What parents said they would do By research design, none of the children had achieved complete independence and were accompanied by their parents during the study visit. Therefore parents speculated on phase IV. However, parents emphasized that starting from the normalization stage they prepared their children for independent management of their own health. Parents were most concerned about their child’s physical setting and their emotional life. During their emotional life, the genetic nature of OI will resurface. When the person with OI chooses to have a child, the parents (becoming grandparents) felt morally bound to help their children face the challenges (Quotation 14). Fig. 1, a schematic representation of our findings summarizes the four phases, with each influenced by the previous and the next. Elements likely to influence each stage are outlined.
Discussion In this study we assessed how parents of children with OI react to and shape the condition of their child over time and confirmed huge differences between parental responses to OI in a child with mild OI and severe OI. In all cases, in Phase I a mosaic of concurrent or sequential contradictory feelings was reported, which subsequently crystallized into a clearer pattern. While parents focused on the diagnosis in
Fig. 1. , Interconnection between phases; , Influence of different elements on parental responses; influencing parental response; , Responses at a phase related to influences on parental responses
, Interconnections between elements
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the initial phase, they entered into a new routine at the acceptance and normalization phases before experiencing worry again in Phase IV. In Phase I, parents mainly searched for information about OI and the search of treatment centers, whereas Phase II was characterized by parental assessment and adaptation to the consequences of the diagnosis. Phases III and IV were used to prepare the child for a better future. At all phases, the severity of the disease and the reaction of the familial environment were influential. However, the trajectory focus differed depending on the phases. At Phase I, parents focused on the disease trajectory when physical impairments were obvious. The focus at Phase II was the social life and sickness trajectory while most parents were able to reflect on their experience with OI (illness trajectory) in Phase III. Diagnostic uncertainty and a prolonged period of waiting for a definite diagnosis can be difficult to manage for parents of children with a rare genetic disease,21 explaining why some can feel relieved.8 In the case of OI, parental relief was more related to the prior suspicion of child abuse and neglect that threatens all personal and societal definitions of good parenting. Our conceptualization of the parental responses to OI could help to design adequate interventions for patients and their families over the life course. For example, medical staff should be sensitized to the lifelong influence of the experience of diagnosis on latter parental responses.30 Thus health professionals should be trained for improved communication of the diagnosis to patients. This might include adopting an interprofessional approach to communicating the diagnosis with psychologists, genetic counselors, social workers and other professionals in the care team.30 Our findings also advocate for a tailored parental support by early parental focus on the social trajectory rather than the physical impairments. While some coping strategies such as positive thinking are to be assessed by professionals, this study reveals that support from friends and families are likely to positively influence parental coping. Besides, as the child’s coping influence parental responses at Phase III, efforts should also be made to obtain better child patient coping, emphasizing the need for a family-centered approach to care, especially in the case of rare genetic diseases.31 Despite the theoretical understanding and practical implications of our study, several limitations could impede application to other contexts. First, we have only considered one genetic rare disease that has specific features: OI is nonprogressive and in most cases non-lethal and does not affect cognitive development. Studies about other heritable skeletal diseases with a non-progressive course such as achondroplasia or hypophosphatemic rickets could gain insight from our findings. However further investigations are needed to test the relevance of our findings to rare genetic diseases that have developmental impairments. Second, by research design, Phase IV was insufficiently documented in this study and needs to be addressed in parents of young adults at
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different stages of life: making reproductive choices, professional integration and independent living.32 Conclusion Parental feelings and actions to the diagnosis of OI in their child shape and manage the trajectory of the disease over time. This shaping and managing process is very complex and non-linear. Parental and child responses are interrelated and dependent on their temperaments, the familial environment, and the severity of the disease. Our findings point to the need for a greater understanding of parental responses in other settings. However, practical implications were derived such as the need for a tailored life-span and family-centered psychosocial support for families; and increased awareness and training among health professionals about the complexity of these parental experiences. Acknowledgments We are very grateful to the families who participated in this study. We acknowledge the assistance of Michaela Durigova, Kathleen Montpetit, Trudy Wong, Colette Desilets, Susan Lempriere and Judith Kashul in conducting the study. We also want to thank two anonymous reviewers for providing suggestions and constructive criticism.
Supplementary data Supplementary data related to this article can be found at http://dx.doi.org/10.1016/j.dhjo.2014.03.002 References 1. Corbin JM. The Corbin and Strauss chronic illness trajectory model: an update. Sch Inq Nurs Pract. 1998;12(1):33e41. 2. Nokes KM. Revisiting how the Chronic Illness Trajectory Framework can be applied for persons living with HIV/AIDS. Sch Inq Nurs Pract. 1998;12(1):27e31. 3. Nicholas DB, Globerman J, Antle BJ, McNeill T, Lach LM. Processes of metastudy: a study of psychosocial adaptation to childhood chronic health conditions. Int J Qual Methods. 2006;5(1):1e10. 4. Prows CA, Hopkin RJ, Barnoy S, Van Riper M. An update of childhood genetic disorders. J Nurs Scholarsh. Mar 2013;45(1):34e42. 5. Chen JY, Clark MJ. Family resources and parental health in families of children with Duchenne muscular dystrophy. J Nurs Res. Dec 2010;18(4):239e248. 6. Kazak AE, Reber M, Snitzer L. Childhood chronic disease and family functionning- a study of phenylketonuria. Pediatrics. Feb 1988;81(2): 224e230. 7. Griffith GM, Hastings RP, Nash S, et al. ‘‘You have to sit and explain it all, and explain yourself.’’ Mothers’ experiences of support services for their offspring with a rare genetic intellectual disability syndrome. J Genet Couns. Apr 2011;20(2):165e177. 8. Zierhut HA, Bartels DM. Waiting for the next shoe to drop: the experience of parents of children with fanconi anemia. J Genet Couns. Feb 2012;21(1):45e58. 9. Schieppati A, Henter JI, Daina E, Aperia A. Why rare diseases are an important medical and social issue. Lancet. Jun 2008;371(9629): 2039e2041.
ARTICLE IN PRESS M.J. Dogba et al. / Disability and Health Journal 10. Cheung MS, Glorieux FH. Osteogenesis Imperfecta: update on presentation and management. Rev Endocr Metab Disord. Jun 2008;9(2): 153e160. 11. Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004; 363(9418):1377e1385. 12. Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol. Sep 2011;7(9): 540e557. 13. Kocher MS, Dichtel L. Osteogenesis imperfecta misdiagnosed as child abuse. J Pediatr Orthop B. Nov 2011;20(6):440e443. 14. Pandya NK, Baldwin K, Kamath AF, Wenger DR, Hosalkar HS. Unexplained fractures: child abuse or bone disease? A systematic review. Clin Orthop Relat Res. Mar 2011;469(3):805e812. 15. Balkefors V, Mattsson E, Pernow Y, Saaf M. Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta. Physiother Res Int. Dec 27 2012;18(11):203e211. 16. Brodin J. Children and adolescents with brittle bones-psychosocial aspects. Child Care Health Dev. Sep-Oct 1993;19(5):341e347. 17. Cole DEC. Psychosocial aspects of osteogenesis imperfecta- an update. Am J Med Genet. Jan 1993;45(2):207e211. 18. Montpetit K, Dahan-Oliel N, Ruck-Gibis J, Fassier F, Rauch F, Glorieux F. Activities and participation in young adults with osteogenesis imperfecta. J Pediatr Rehabil Med. 2011;4(1):13e22. 19. Widmann R, Laplaza J, Bitan F, Brooks C, Root L. Quality of life in osteogenesis imperfecta. Int Orthop. 2002;26(1):3e6. 20. Suskauer SJ, Cintas HL, Marini JC, Gerber LH. Temperament and physical performance in children with osteogenesis imperfecta. Pediatrics. 2003;111(2):e153ee161. 21. Dogba MJ, Bedos C, Durigova M, et al. The impact of severe osteogenesis imperfecta on the lives of young patients and their parents e a qualitative analysis. BMC Pediatr. 2013;13(153).
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22. Claesson IB, Brodin J. What families with children with brittle bones want to tell. Child Care Health Dev. Jul 2002;28(4): 309e315. 23. Szczepaniak-Kubat A, Kurnatowska O, Jakubowska-Pietkiewicz E, Chlebna-Sokol D. Assessment of Quality of life of parents of children with osteogenesis imperfecta. Adv Clin Exp Med. Jan-Feb 2012;21(1): 99e104. 24. Thorne S, Kirkham SR, MacDonaldEmes J. Interpretive description: a noncategorical qualitative alternative for developing nursing knowledge. Res Nurs Health. Apr 1997;20(2):169e177. 25. Hunt MR. Strengths and challenges in the use of interpretive description: reflections arising from a study of the moral experience of health professionals in humanitarian work. Qual Health Res. Sep 2009;19(9): 1284e1292. 26. Patton MQ. Qualitative Research and Evaluation Methods. 3rd ed. Thousand Oaks: Sage; 2002. 27. Sandelowski M. Time and qualitative research. Res Nurs Health. Feb 1999;22(1):79e87. 28. Braun V, Clarke V. Using thematic analysis in psychology. Qual Res Psychol. 2006;3(2):77e101. 29. Salda~na J. The Coding Manula for Qualitative Researchers. Los Angeles: Sage Publications; 2013. 30. Lalor JG, Devane D, Begley CM. Unexpected diagnosis of fetal abnormality: women’s encounters with caregivers. Birth. Mar 2007;34(1): 80e88. 31. Battista RN, Blancquaert I, Laberge AM, van Schendel N, Leduc N. Genetics in health care: an overview of current and emerging models. Public Health Genomics. 2012;15(1):34e45. 32. Doug M, Adi Y, Williams J, et al. Transition to adult services for children and young people with palliative care needs: a systematic review. Arch Dis Child. Jan 2011;96(1):78e84.
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Brief Report
Shaping and managing the course of a child’s disease: Parental experiences with osteogenesis imperfecta Maman Joyce Dogba, M.D., Ph.D.a,*, Frank Rauch, M.D.a, Ghislaine Tre, M.D., Ph.D.b, Francis H. Glorieux, M.D., Ph.D.a, and Christophe Bedos, D.M.D., Ph.D.c a Shriners Hospital for Children, 1529 Cedar Avenue, Montreal, QC, Canada H3G 1A6 Center of Laval University Research Hospital 10, rue de l’Espinay, QC, Canada G1L 3L5 c Faculty of Dentistry, McGill University, 3550 University Street, Montreal, QC, Canada H3A 2A7 b
Abstract Background: Osteogenesis imperfecta (OI), a rare genetic disease, causes increased bone fragility. The course of childhood chronic conditions particularly rare genetic diseases can be modified by both child and parents. However with limited research, shaping and managing that process is not well understood. Objective: Here we examine how parents of children with severe and mild OI have shaped and managed the condition of their child over time. Our goal is to provide a in-depth understanding of parental responses to OI. Methods: This study was carried out in a pediatric orthopedic hospital located in Montreal, Canada. Using the principles of interpretative description, we conducted semi-structured interviews with 48 parents of children diagnosed with OI. Results: We found that parental responses to their child’ disease are constituted by their feelings and their actions. These responses changed over time. We can report four successive phases: an initial reaction, acceptance, normalization and passing the baton. Each stage affected subsequent stages. Every stage was influenced by the severity of OI, parents’ individual characteristics, their day-to-day experiences and the entourage. Conclusion: Our study contributes to increased understanding of parental responses to OI and to improved parental responses and ultimately the child’s coping. Ó 2014 Elsevier Inc. All rights reserved. Keywords: Osteogenesis imperfecta; Parental responses; Children; Illness and rare disease; Research; Qualitative; Psychosocial issues; Genetics; North America
The trajectory model of chronic illnesses postulates that the course of chronic conditions including rare genetic diseases can be influenced by interactions, persons and their environments.1 Biomedical or psychosocial interventions, known as shaping and managing, interact with the natural history of the disease to alter the course of chronic conditions over time.2
Declaration of conflicting interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. Funding: The author(s) disclosed receipt of the following financial support for the research, authorship, and or publication of this article: the Shriners of North America; the Network for Oral and Bone Health Research (RSBO) and the Chercheur-Boursier Clinicien program of the Fonds de la Recherche du Quebec- Sante (FRQ-S); and the MENTOR program of the Canadian Institutes of Health Research. * Corresponding author. Tel.: þ1 5148424464. E-mail address: [email protected] or dogbaj@ yahoo.fr (M.J. Dogba). 1936-6574/$ - see front matter Ó 2014 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.dhjo.2014.03.002
The course of rare genetic diseases can be modified by coping strategies of both the child and the parents. Parental coping is closely related to child development. Higher family functioning, higher self-esteem and a greater sense of parental control correlate with better psychological and physical health in children with chronic conditions, both directly and indirectly through better social support and stress management.3e6 While parental coping in rare genetic diseases is receiving increased attention, longitudinal design or life course approaches are limited.7,8 We therefore aimed at an in-depth understanding of the progress of parental responses to a child’s disease over time with the aim of informing the development of support interventions.9 Osteogenesis imperfecta (OI), a rare genetic disease of increased bone fragility, affects approximately 1 in 10,000 newborns. Apart from fractures, short stature, limb and spine deformities and restricted mobility, extraskeletal symptoms like blue sclera, abnormalities of the teeth and hearing impairment can be present.10,11 Disease severity
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varies widely, which has led to a classification that currently comprises seven clinically defined types (OI types IeVII), and an expanding number of genetically defined OI types.11,12 The occurrence of fractures in young children may lead to a suspicion of child abuse and neglect, especially in children with milder forms of OI.13,14 The psychosocial consequences of OI can include social isolation, long delays for definitive diagnosis and difficult access to knowledgeable health professionals.15e23 The parental responses over time are not fully understood. The severity of the disease as a determinant of parental responses has been insufficiently accounted for.11,18 To address these knowledge gaps, the present study provides an in-depth understanding of how parents of children with severe and mild OI can alter shape and manage the condition of their child over time.
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initial interviews, parents were met again to check for accuracy of their input and to hear our core findings. Using NVivo 10 (QSR International) we performed a semantic thematic analysis.28 Two authors independently compared their line-by-line transcript coding. The percentage of agreement between codes was 93%e100%. Coding disagreement was resolved by discussion. As patterns became more apparent, dominant categories inside the corpus were identified and considered themes. Coding ended by establishing and checking relationships between categories by generating matrices that systematically compared themes across different groups of parents (parents of children with severe OI versus mild OI, parents of young versus older children, parents with no family history of OI versus with a family history).29
Results Methods The study was performed at a pediatric orthopedic hospital in Montreal, Canada, from July 2011 to May 2013, when approximately 400 children and adolescents with OI, mainly from Canada, the United States, Latin America and Europe, were actively followed. The study is an interpretative description which is a qualitative research design that examines a phenomenon poorly understood in a clinical setting by identifying explanatory patterns among individuals.24,25 Ethical approval was obtained from the Institutional Review Board of McGill University. Using purposeful maximum variation sampling, we recruited parents of children who varied widely regarding disease severity and trajectory.26,27 Variability in disease trajectory was accounted for by the recruitment of parents near the time when their children were diagnosed with OI, when the incidence of fractures is typically high, and then further along the timeline, when symptoms are usually more stable. To ensure variation in the sickness trajectory, we invited both parents who encouraged their children to functional independence, and parents who, often for fear of fractures, tended to discourage their children from the physical activity required for functional independence. Illness trajectory was accounted for by including both parents with a negative discourse around their experiences with OI and parents with a more positive outlook as revealed in previous discussions with hospital staff. We invited parents of children diagnosed with OI and followed at our institution if they were fluent in English or French. A total of 48 parents (34 mothers and 14 fathers) of 39 children were recruited (Additional file 1). Face-to-face semi-structured interviews were conducted using an interview grid developed by the research team (Additional file 2). The 30e60 min interviews were digitally recorded, transcribed verbatim and stripped of identifying information. Between 3 and 12 months after the
We conceptualized parental responses as a series of feelings and actions chronologically organized into four phases: Initial reaction, acceptance, normalization, and ‘‘passing the baton.’’ The phases respectively match the following life developmental stages: neonatal period, childhood and socialization in daycare and school, adolescence and early adulthood. Elements likely to influence parental responses were identified and grouped into four categories: Severity of the disease, day-to-day experiences of parents, parents’ personal characteristics and parents’ entourage. Table 1 outlines parents’ feelings and actions at each of the four stages and influencing elements. There are commonalities and differences across the four stages. Table 2 provides selected illustrative quotes. Phase I: initial reaction This begins with the diagnosis, when parents focus on the medical characteristics of OI. How parents felt Most parents of severely affected children were devastated by the diagnosis. However, parents who waited a long time before obtaining a definite diagnosis generally also felt relieved, as many of them had been suspected of child abuse (Quotation 1). Some reported anger because of the genetic origin of the disease and guilt for having ‘‘caused’’ the suffering to their child. Most importantly, many parents described having different, sometimes contradictory feelings at the same time: devastation and denial, and shock and relief (Quotation 2). What parents did They actively sought information about the consequences of OI, its prognosis and cure through the internet and social media (e.g., OI parents’ group on Facebook).
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Table 1 Summary of the four phases of parental responses to OI in their child. Elements likely to influence parental responses
How parents felt
What parents did
Phase I: Initial reaction The experience of the diagnosis appears to be a strong determinant of parental responses at this phase
A mosaic of feelings Devastation, shock Relief Anger Guilt Denial
Actively search for information about the disease Joining Facebook group Focus on social achievements rather than physical impairments Reflecting on positive achievements (e.g.: child can smile) rather visible deformities
Phase II: Period of acceptance The burden of care appears to be a strong determinant of parental responses at this phase
Disappointed Exhausted
Search for specialized care institutions
Phase III: Normalization The reaction of the child to the disease appears to be a strong determinant of parental responses at this phase
Ups and downs punctuated by the occurrence of fractures Overprotective
Phase IV: Passing the baton The uncertainty of the future
Worried about independent living of the child
Finding out what their future life with OI would be like Redefining new routine of life Focusing on the sickness trajectory, considering the child as ‘‘normal’’ and OI as one of his/her life challenges Prepare the child for a better and realistic future Participating in research Willing to prepare their child to care for themselves Companionship or fully involvement in their child’s health questions
Elements likely to influence parental responses at phase 1 The severity of the disease and day-to-day experiences. Parental responses were influenced by circumstances of the diagnosis (e.g., delay before confirmation or quick diagnosis), prior knowledge of OI and the communication of the diagnosis to parents by health professionals (Quotation 3, 4). Personal characteristics and environment. Parents’ temperaments and personal life situations sometimes explained
Severity of the disease and day-to day experiences Circumstance of diagnosis (e.g.: quick diagnosis, suspicion of child abuse) Prior knowledge of OI (e.g., other person affected in the family, parents in the medical field) Professional and familial burden of the disease on parents Personal characteristics and the entourage Temperament of parents Inquisitiveness (e.g., child became an ‘‘attraction’’) Support Severity of the disease and day-to-day experiences Frequency of fractures Follow-up hospital visits Age of patient Number of people affected in the family Personal characteristics and the entourage Job loss, social isolation, tensions inside the couple Temperament of parents, ability to control life events Pity of families/friends in case of visible deformities Doubt of families/friends for mildly affected patients Personal characteristics and the entourage Temperament of parents, resilience of the child, various sources of support (e.g., self, family, hospitals)
Severity of the disease and day-to-day experiences The choice of the child to start a family
their reactions in Phase I. For example, the diagnosis of OI interrupted the professional and family plans of many. However, the initial reaction depended on the personal environment as revealed by embarrassing situations when their child became an ‘‘attraction,’’ because of short height and deformities (Quotation 5). Phase II: period of acceptance As this phase coincided with the socialization stage of daycare to entering school, parents focused on the social life of their families and the sickness trajectory.
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Table 2 Illustrative quotations. 1. Well the light went on for us; it helped us understand why he was having frequent breaks and so on. It was sort of like, in a sense, a relief for us. But in another sense, it was like, now our son really does have a disease. (I_Father_Fam_Mild_13.2) 2. We were very devastated. And there was a little bit of denial, thinking they must have been wrong. (I_Mother_NoFam_Severe1.2) 3. If I thought there was little hope, I would focus on the positive aspect. Yes, they [people with OI] break bones, but there are things they can do in life. They can live, be happy and have a productive life. Yes. And it is important to let parents see that they have hope. She communicates, she can talk to me. She can laugh. What else do you want from your child? (I_Mother_NoFam_Severe_2.2) 4. We were told that she will not survive, we were told that there was an 80% chance that she will not survive and nobody discussed with us but if she survived. Nobody discussed what we’re going to do. Nobody discussed what the treatment options were. It was all about the negative part. As a parent, you are searching for a type of hope and we would have liked to be given a chance to hope. I_Mother_NoFam_Severe_2.2. 5. [People] wanted to take pictures, right away, they wanted to see. And it was hard because we also had a lot of people at home. They would stare a lot. What’s wrong with him? Why is he so small? I_Mother_NoFam_Severe_2.8. 6. It was exhausting. carrying him every day, but I am his mom I_Mother_NoFam_Severe_28.2. 7. And then after that, it took a while for us to get to a place of acceptance. It probably took about a year. You know, we were wrestling back and forth. So basically it took about a year to get to that place. I_Father_NoFam_Severe_23.2. 8. For financial reasons, I know that I should go back (to work), but I can’t figure out when and how I can do that. I_Mother_NoFam_Severe_19.2. 9. I tried to continue my education, but at one point I was forced to choose (between my school and my daughter) and I chose my daughter. I_Mother_NoFam_Severe_20.2 10. Our friends have never heard of OI, they don’t know what it is. When they finally did hear about the disease through the movie called Unbreakable (2000), they couldn’t understand how she could have the same thing! It almost worked against us. They said: Your children look fine and they are normal height; they can’t have the same thing. I_Mother_Fam_Mild_13.2 11. She is not a child with OI, as far as I am concerned. She is a child and one of the things she is dealing with is that she has OI. I_Mother_Fam_Severe_15.2. 12. The challenges just come and go. There are some years that are very difficult [because of fractures] and other years that are easier. I_Mother_NoFam_Severe_2.1. 13. I am worried about his future. Right now, he is OK but in the future? Hum. If we can get to where he wants to be, I wouldn’t be ready for the transition, for leaving me and going out on a course without assistance, I don’t think I’ll ever be ready for that boy. (laugh) Maybe later, but not now. I_Mother_NoFam_Severe_12.2. 14. As a mom I am concerned about her having kids. I hope they don’t have to go through what we went through, all the suffering with a disabled child, fighting to find a school, fighting so that she is acknowledged as any other kid, a normal person. But if they do have to go through it at least we’ve been through it before so we can help them. I_Mother_FamMild_13.2
How parents felt Most reported feeling disappointed and exhausted as they realized the daily implications of caring for a child with severe OI (e.g., carrying, bathing) (Quotation 6). What parents did Much time and resources were dedicated to the search for specialized care institutions. Efforts were made to accept their child’s condition. Most often, parents reported moving back and forth between negative feelings and efforts to stress the bright side. This argues for an iterative and nonlinear process between phases (Quotation 7).
individual temperament and how much control parents could exert on life events. This was illustrated by the report of mothers who reduced their professional activities to care for their children. While some came to be satisfied with their decisions, others were frustrated for losing control over their lives by choosing to be the ‘‘stay-home parent’’ (Quotation 8, 9). The surroundings of families of severe versus mild disease burden differed. Most parents of severely affected children were pitied by friends and neighbors, whereas parents of mildly affected children were shocked that others questioned the diagnosis because of the lack of deformities and normal height (Quotation 10).
Elements likely to influence parental responses at phase II
Phase III: normalization
The severity of the disease and day-to-day experiences. In severely affected children, parents described increased burden of care due to fractures, frequent follow-up visits for medical treatment, surgical interventions and consultations with rehabilitation specialists. Parents of children with mild OI reported only annual follow-up visits to specialized clinics. The disease burden was greater when children were younger and when more than one child was affected.
How parents felt Most parents redefined what their ‘‘new normal’’ would be and educated their children accordingly. They stressed that previous phases influenced the normalization stage. Among parents who stressed being able to focus on the sickness trajectory of OI, some defined their children as normal with one added challenge, that of living with OI (Quotation 11). Other parents who focused on the disease trajectory described the course of OI as periods of ups and downs punctuated by the occurrence of fractures and other complications (Quotation 12).
Personal characteristics and the environment. Adjusting to the psychosocial consequences of the diagnosis (e.g., job loss and social isolation) was an important step to the acceptance of the disease. Parents’ perception of these consequences added to the burden of care depending on
What parents did Parents reported trying to prepare their child for a better future either by getting involved with the school to ensure
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better integration, or by participating in research to improve care options for OI. Some regretted becoming overprotective; however most were confident about being able to prepare their child for independent living. Elements likely to influence parental responses The ability of the child to cope with his condition was a core component to parental responses and the resilience of their child was often mentioned as a great inspiration to many parents. Personal characteristics and the environment Parents tended to react according to their temperament and their sources of support were mainly their own inner resources, church, family and hospitals. Phase IV: passing the baton This final stage, corresponding to adolescence and young adulthood is called ‘‘passing the baton’’ to the child with OI. Here, when severely affected patients transition from the pediatric setting to adult health care institutions, parents expect their child to manage his own life. Usually, patients with mild OI will live independently. For severely affected patients, parents adopted either a companionship or managerial stance depending on the child’s level of autonomy. How parents felt Most parents reported feeling a sense of achievement once their children have a successful professional and
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family life. Meanwhile, parents with severely affected children experienced worry about the future (Quotation13). What parents said they would do By research design, none of the children had achieved complete independence and were accompanied by their parents during the study visit. Therefore parents speculated on phase IV. However, parents emphasized that starting from the normalization stage they prepared their children for independent management of their own health. Parents were most concerned about their child’s physical setting and their emotional life. During their emotional life, the genetic nature of OI will resurface. When the person with OI chooses to have a child, the parents (becoming grandparents) felt morally bound to help their children face the challenges (Quotation 14). Fig. 1, a schematic representation of our findings summarizes the four phases, with each influenced by the previous and the next. Elements likely to influence each stage are outlined.
Discussion In this study we assessed how parents of children with OI react to and shape the condition of their child over time and confirmed huge differences between parental responses to OI in a child with mild OI and severe OI. In all cases, in Phase I a mosaic of concurrent or sequential contradictory feelings was reported, which subsequently crystallized into a clearer pattern. While parents focused on the diagnosis in
Fig. 1. , Interconnection between phases; , Influence of different elements on parental responses; influencing parental response; , Responses at a phase related to influences on parental responses
, Interconnections between elements
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the initial phase, they entered into a new routine at the acceptance and normalization phases before experiencing worry again in Phase IV. In Phase I, parents mainly searched for information about OI and the search of treatment centers, whereas Phase II was characterized by parental assessment and adaptation to the consequences of the diagnosis. Phases III and IV were used to prepare the child for a better future. At all phases, the severity of the disease and the reaction of the familial environment were influential. However, the trajectory focus differed depending on the phases. At Phase I, parents focused on the disease trajectory when physical impairments were obvious. The focus at Phase II was the social life and sickness trajectory while most parents were able to reflect on their experience with OI (illness trajectory) in Phase III. Diagnostic uncertainty and a prolonged period of waiting for a definite diagnosis can be difficult to manage for parents of children with a rare genetic disease,21 explaining why some can feel relieved.8 In the case of OI, parental relief was more related to the prior suspicion of child abuse and neglect that threatens all personal and societal definitions of good parenting. Our conceptualization of the parental responses to OI could help to design adequate interventions for patients and their families over the life course. For example, medical staff should be sensitized to the lifelong influence of the experience of diagnosis on latter parental responses.30 Thus health professionals should be trained for improved communication of the diagnosis to patients. This might include adopting an interprofessional approach to communicating the diagnosis with psychologists, genetic counselors, social workers and other professionals in the care team.30 Our findings also advocate for a tailored parental support by early parental focus on the social trajectory rather than the physical impairments. While some coping strategies such as positive thinking are to be assessed by professionals, this study reveals that support from friends and families are likely to positively influence parental coping. Besides, as the child’s coping influence parental responses at Phase III, efforts should also be made to obtain better child patient coping, emphasizing the need for a family-centered approach to care, especially in the case of rare genetic diseases.31 Despite the theoretical understanding and practical implications of our study, several limitations could impede application to other contexts. First, we have only considered one genetic rare disease that has specific features: OI is nonprogressive and in most cases non-lethal and does not affect cognitive development. Studies about other heritable skeletal diseases with a non-progressive course such as achondroplasia or hypophosphatemic rickets could gain insight from our findings. However further investigations are needed to test the relevance of our findings to rare genetic diseases that have developmental impairments. Second, by research design, Phase IV was insufficiently documented in this study and needs to be addressed in parents of young adults at
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different stages of life: making reproductive choices, professional integration and independent living.32 Conclusion Parental feelings and actions to the diagnosis of OI in their child shape and manage the trajectory of the disease over time. This shaping and managing process is very complex and non-linear. Parental and child responses are interrelated and dependent on their temperaments, the familial environment, and the severity of the disease. Our findings point to the need for a greater understanding of parental responses in other settings. However, practical implications were derived such as the need for a tailored life-span and family-centered psychosocial support for families; and increased awareness and training among health professionals about the complexity of these parental experiences. Acknowledgments We are very grateful to the families who participated in this study. We acknowledge the assistance of Michaela Durigova, Kathleen Montpetit, Trudy Wong, Colette Desilets, Susan Lempriere and Judith Kashul in conducting the study. We also want to thank two anonymous reviewers for providing suggestions and constructive criticism.
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