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Feature Article

Exploring the Perceived Self-management Needs of Young Adults With Osteogenesis Imperfecta

Michalovic, Alisha MSc(A)N, RN; Anderson, Charlotte MSc(A)N, RN; Thorstad, Kelly MSc(A)N, PHCNP; Rauch, Frank MD; Tsimicalis, Argerie PhD, RN

Author Information
doi: 10.1097/NUR.0000000000000517

Abstract

Osteogenesis imperfecta (OI) is a rare genetic disorder associated with high rates of fractures among growing children.1,2 Once they reach adulthood, children experience fewer fractures,3 but other health concerns persist requiring medical follow-up such as connective tissue disorders, presence of joint laxity, scoliosis, acute and/or chronic pain, and issues with hearing and/or vision.4–7 In a pediatric orthopedic hospital, specialized in the care of children with OI, the interprofessional team anecdotally reported a gap in the transition process for their adolescent and young adult patients. This transition process was later evaluated by Dogba et al,8 noting the need for a multisite transition model with cross-site personnel and user evaluation. Efforts to begin addressing these healthcare system barriers led to a partnership with primary care nurse practitioners (NPs) practicing in the adult healthcare setting to provide care to their former pediatric patients. The NPs received a 1-day, interdisciplinary training led by the primary care NP, who worked at both the pediatric hospital and the adult primary care site, in collaboration with the OI team. The curriculum focused on providing the NPs with essential information required for primary care for this rare population. In addition, the NPs participated in an OI clinic conducting clinical assessments with the support of the OI team followed by an interactive, knowledge exchange of the current evidence, resources, and research underway for this underresearched population. The nurse coordinator was responsible for following up with former patients and collaborating with the NP to set up their first NP appointment at the adult primary care clinic. This new partnership was key for the hospital's ongoing efforts to optimize self-management and transitional care services8,9 and invite new opportunities for the clinical nurse specialist (CNS) to play a central role in the introduction and use of a transition pathway in the provision of support to OI patients in need of lifelong care.10

Brief Overview of Self-management and Transitional Care Services

When patients with childhood-onset conditions approach 18 to 21 years, their care must be transferred to the adult healthcare system.11,12 This process is referred to as transitioning “the purposeful, planned movement of adolescents and young adults with chronic physical and medical conditions from child-centered to adult-oriented healthcare systems.”13(p570) In some cases, the transition process can be difficult, fragmented, and not adequately planned, which affects the health status of these young adults.14 Consequently, former pediatric patients are less likely to attend follow-up medical appointments, are at an increased risk of hospitalizations, and may experience long-term adverse health outcomes.12,15–17 Varying reasons contribute to young adults being ill-prepared to enter the adult healthcare system.12,18 For example, in the pediatric setting, according to the law and an underlying philosophy of family-centered care, parents or guardians are actively involved in the decision making, communication, and management of their child's illness.19,20 In addition, patients are typically followed by clinicians with expertise in their condition; thus, patients have little need to explain their rare condition to their pediatric healthcare team.21 Thus, young adults enter the adult health system with limited experience independently managing and informing practitioners about their condition as well navigating healthcare resources.

To address these challenges, pediatric healthcare settings have established varying transition programs to help prepare patients transition from the pediatric to the adult system. Despite the wide variation of programs, those that support and educate patients on self-management skills (eg, how to manage one's illness and navigate the adult healthcare system) have been successful in improving follow-up and health outcomes in young adults with chronic conditions.15,22 Self-management is “the interaction of health behaviors and related processes that patients and families engage in to care for a chronic condition.”23(pe474) Some examples of these behaviors include symptom management, appointment attendance, lifestyle changes, and treatments.23 Self-management behaviors are impacted by 4 different domains: individual, family, community, and healthcare system.22 These domains are influenced by modifiable and nonmodifiable factors.22 For example, in the individual domain, age, sex, and cognitive function are all nonmodifiable influences, whereas disease/treatment knowledge and coping style are modifiable influences.22 By focusing on changing or improving the modifiable influences in each domain, one can improve the self-management behaviors, thus improving health outcomes.22

With a paucity of self-management and transitional care research in OI, clinicians' ability to anticipate the needs of these young adults was curtailed. Research suggests that some self-management behaviors unique to individuals with OI may be their ability to cope with fractures and situations that may cause fractures, as well as their ability to communicate to healthcare professionals about their uncommon condition.6,24 However, their specific self-management behaviors remain unexplored, potentially leading to a gap in their transition process. Hence, a qualitative descriptive study was conducted to explore the perceived self-management needs of young adults with OI with the goal of optimizing the self-management and transitional care services.

METHODS

Design, Setting, and Participants

Following institutional review board approval, a qualitative descriptive research design was conducted over a 12-month period (2015–2016). Convenience sampling was used to recruit former patients from a pediatric orthopedic hospital located in Montreal, Quebec, Canada. Individuals were eligible for the study if they (1) were previously followed by the pediatric hospital for their OI care, (2) were older than 18 years, (3) had an appointment with an NP (the newly created partnership), and (4) spoke English or French.

Recruitment, Procedure, and Data Collection

After the nurse coordinator facilitated the scheduling of the former patients' first NP appointment, she informed them of the study. If the former patients expressed an interest in the study, their information was provided to a member of the research team who emailed potential participants the study information, consent form, and a social demographic questionnaire. A face-to-face interview was scheduled, and informed consent was obtained prior to beginning their first interview. The interview was guided by the pediatric self-management framework22 with varying semistructured questions and probes, developed for this study purpose, to explore the perceived self-management needs of young adults with OI (Supplemental Digital Content 1, http://links.lww.com/NUR/A23). The framework encompasses 4 domains that impact self-management behaviors: individual, family, community, and healthcare system.22 The interview guide helped prompt discussion of the influences affecting the participant's self-management behaviors per domain. The interview guide was used to collect data over the 2 time periods. The first data collection occurred less than 2 weeks prior to the participants' scheduled NP appointment. The second data collection period occurred less than 4 weeks after their first NP appointment. Participants were interviewed in person at a mutually convenient time and location. All interviews were recorded and were approximately 60 minutes in length. The sample size was based on the capacity of the 3 newly trained NPs to incorporate OI patients into their primary care practice and the time and resources allocated for this pilot initiative.

Data Analysis

The data were analyzed using a qualitative descriptive framework.25 The analytical process consisted of (a) open coding; (b) grouping together similar codes under higher-order headings to create a coding framework; (c) reviewing the framework alongside the transcript, with the research team, resolving any discrepancies and forming consensus; (d) adapting the framework as new codes emerged in the data; (e) creating themes by grouping together similar headings; and (f) comparing and contrasting, through discussions among the research team, to ensure all data were appropriately categorized into their corresponding themes.25

RESULTS

Sample Characteristics

Seven young adults participated in the study. Eleven interviews were conducted; 4 participants were interviewed twice, whereas 3 participants were interviewed once (Table 1). Participants ranged in age from 23 to 34 years. The last time they had been seen by a clinician for their condition, excluding participation in research studies, ranged from 3 to 10 years. Throughout the Results section, a number in parentheses will follow each citation from a study participant. Each study number corresponds with a different study participant.

Table
Table:
Description of Sample Characteristics (n = 7)

Overview of Themes

All of the participants felt ill prepared to transition into the adult healthcare system. They lacked comprehensive information about managing their OI and were unaware of the health concerns, which could arise in adulthood specific to OI. Because of their lack of preparation to navigate the adult healthcare system, a system often associated with fewer healthcare providers knowledgeable about OI, the participants felt lost. Years later, most remained feeling lost, as they were not being medically followed for their OI in the adult healthcare system. Participants expressed a strong desire to be followed for their condition but did not know where to access these resources. However, after meeting with the NP for the first time, participants felt as though they were “getting back in the loop” (004). They looked forward to being in contact with someone who had received training from their former pediatric hospital, knew about OI, and could provide them with information and follow-up services to better manage their condition. Despite their lack of preparation transitioning into the adult healthcare system, participants showcased their resourcefulness and expressed willingness to manage their OI. Four themes were identified from the interviews, which included the following: (1) dropped in the jungle with no one to call; (2) they do not know how to treat me; (3) I feel like I'm going to get back in the loop; and (4) self-managing what I know, how I know. The presentation of these themes is as follows:

Dropped in the Jungle With No One to Call

Within the pediatric orthopedic setting, all participants benefited from the expertise of an interprofessional approach to their care and felt their OI had been properly managed. The participants had become accustomed to being treated by a hospital renowned for their expertise in OI, and they expressed a desire to remain within the care of their pediatric hospital. One participant explains:

(Translated from French) Honestly, we need the [hospital name] for our whole lives… the doctors, the orthopedic technicians, those that make the casts, the physiotherapist, the occupational therapist. Everything is better at [hospital name] (003).

In addition to their expertise in OI, the participants also expressed they had a strong emotional and personal connection to the hospital:

They are very kind, and they are very devoted. They offer more than just a doctor and nurses, you know, more than tests and books and papers, they are very kind, they are very nice, they are friendly. That is something that makes me look forward for the next appointment (007).

After leaving the pediatric system, participants reported being left to fend for themselves with no knowledge of how to access resources or information to properly manage their OI. One participant compared the process of entering the adult healthcare system as “being dropped in the jungle” (004). Another participant explained the transition was the hardest thing he ever had to do: “(translated from French) At [the age of] 21, you [break a bone] and [all of a sudden] you are alone in the world” (003). Participants' lack of preparation in accessing resources was evident during their first interview, as none of the participants were being followed for their OI by a healthcare professional. In addition, many of the participants did not have a family doctor to address general health concerns. One participant sought healthcare from a walk-in clinic every time she needed medical attention (006).

The participants expressed a strong desire to receive medical check-ups for their condition but lacked the preparation to find, access, and secure similar resources in the adult healthcare system:

(Translated from French) It's about knowing where to call [and] who [you should speak with], when you called the [pediatric hospital] everyone knew who you were, so they knew who you should speak with […] in the adult system, you do not know who to call, you do not know what hospital to call; it's very, very difficult (003).

In the pediatric system, participants received frequent bone density scans, x-rays, and blood tests. Since their transition, many participants had not undergone any of these tests. The participants expressed the importance of these tests for their health. They desired to reinstate these screening measures. One participant stated:

(Translated from French) Since leaving the [hospital name], I have not really been followed, I have not had a bone density exam, I have not had any x-rays, I have not done any blood tests to see where I'm at. My bone density could have drastically decreased, and I would not know. It's certain that I would like to have a follow-up. It would be really ideal (006).

To facilitate the transition process into the adult healthcare system, one participant suggested meeting with the clinician before their last pediatric appointment to establish the care expectations from the adult healthcare setting (001).

They Do Not Know How to Treat Me

The participants felt that managing their symptoms and fractures was more difficult in the adult healthcare system than experienced in the pediatric healthcare system. Participants frequently had to explain their condition to clinicians and at times encountered clinicians who did not know how to treat their fractures, “(translated from French) he told me ‘Your bones are weird, I do not know what to do with you.’ The doctor is supposed to help me, but he did not know what to do” (001). Because of the rarity of OI, most participants did not expect clinicians to be knowledgeable about their condition and anticipated the need to educate them. One participant stated, “You take the time to explain to them in a little more detail, like when you can go to a dentist, you can go to a pharmacist and explain it to them, and they are more learning from what you are telling them, than from what they know, because it's so rare” (005). However, this was not the case for all participants. One participant (007) was not comfortable explaining her OI and viewed this role to be that of her parents. If her parents were not present, she expected clinicians to research her condition before treating her. Consequently, the clinicians' lack of knowledge about OI affected the participants' ability to access to information about their condition. They desired a trustworthy source of information about symptom management, risk factors, aging, and long-term effects. Moreover, it affected their level of trust and confidence in the clinician's capacity to manage their OI. One participant explains:

My experience with the system is that it's hard to trust someone who doesn't know about OI, because it feels like you always have to answer the same questions, …I am always very nervous, because I know that they don't know about OI, and I don't know how it's going to turn out (004).

I Have the Feeling That I'm Going to Get Back in the Loop

After years without follow-up for their OI, participants welcomed their NP appointment. They anticipated their NP would address their health concerns and provide them with information:

I kind of have the feeling that I'm going to get back in the loop, …it's going to be easier to get a follow-up on a regular basis, …if something happens now, I know who I can call, and I didn't know before, …it was helpful to know that I can call someone that knows about OI, that knows about the resources, and knows where I should go and get some help if I need [it] (004).

Many participants also appreciated the NP would help navigate and coordinate referrals to other healthcare professionals to better manage their condition (eg, need for bone density examinations or follow-up on surgeries), “it's just nice to see that […] she'll [refer] me to the right places” (007).

One participant, who had yet to experience a fracture as a young adult, expressed disappointment that the provision of fracture treatment was not part of primary care services. Concerned she could fracture at any moment and she did not know where to seek specialized fracture treatment:

(Translated from French) I think the biggest worry among us… is where should I go if I ever get a fracture? … It's always the question that remains. Like even if I met [the NP], I still [will] have this concern … [A fracture] can happen tomorrow, it can happen a week from now, it can happen in 2 months. And I still don't know where to go (002).

Self-managing What I Know, How I Know

Participants managed much of their condition on their own and possessed a strong desire to live an independent and normal life. Apart from one participant requiring physical assistance for mobility, participants felt they had reached this desired life. Independence, for one participant, was described as the ability “to live on my own, and not having to ask for help, and to feel… more free… Just to get rid of all the barriers about living in a wheelchair” (004). This strive for independence was facilitated by their ability to self-manage their symptoms and utilize available resources. One participant benefited from his father with OI who served as a role model, “My dad has always worked all his life, and he's been independent all his life, so that's pretty much the model that I took” (005). Self-managing what I know and how I know entailed independently managing their symptoms and utilizing available resources and support networks.

Independent Symptom Management. Participants' ability to self-manage their symptoms was exemplified by actions such as treating pain with anti-inflammatories, using a wheelchair to avoid pain on long walks, taking calcium supplements for bone health, exercising to increase bone/muscle strength, and doing yoga to relieve back pain. Most participants also reported being cautious of tripping or other physical movements and activities that could lead to a fracture (eg, such as riding a bike). Their condition also influenced their career path. They opted for less physically demanding positions and learned to be particularly attuned to their bodies. One participant changed jobs to prevent unnecessary injuries, “(translated from French) I now better know my limits. Before I would work until exhaustion, now I know that lifting… 50 pounds is unreasonable” (006).

Because of their prior fracture experiences, 3 participants discussed how they managed their own fractures. When they deemed their fracture untreatable by medical intervention, they would treat their fractures by using ice packs or forgoing painkillers to prevent unnecessary movement. One participant explains his rationale for seeking medical intervention for a broken rib:

If it's the kind of pain that I already know, and if I know how to control it, I'm not going to go to the ER… I know myself, I know what to do, and I know when there is nothing to do, and I won't spend half a day or a day in the hospital to learn something that I already know. To me it's just a waste of time (004).

Utilizing available resources and support networks. Participants tapped into varying healthcare resources and relied on friends and family for support. Since leaving the pediatric system, the participants had not accessed the adult healthcare systems for the following services: gynecological support, family planning and genetic counseling, home adaptations, occupational therapy for wheelchair adjustments, emergency room visits to treat fractures, and medical support for the treatment of anxiety and general illness needs. However, none of them had a family physician or another specialist who followed them for their OI.

There was a large range in physical ability among the participants; thus, their capacity to confront environmental barriers differed along with the type of support requested from family and friends. One participant (001) described asking for help from family and strangers to reach high items on store shelves, because her short stature prevented her from reaching shelves above certain heights. Another participant reported requesting help from friends for grocery shopping after their elevator broke down halting their access to the outdoors (004). Families and friends occasionally drove the participants to different destinations and provided support during and after a fracture. One participant, with very limited mobility, relied on family, friends, and public resources, such as the community health clinics and school services, to meet their daily needs such as cooking, getting dressed, and maintaining personal hygiene (002). Unlike the other participants, one participant described himself as his primary source of support (005). As an adolescent, he was also the primary source of support (including financial support) for his other family members with OI. Overall, the participants demonstrated their ability to utilize some of the available healthcare services, but they all wanted a healthcare provider to follow them specifically for their OI. Despite their lack of follow-up, participants were managing some of their symptoms, and they were utilizing family, friends, and community resources for support in order to live the independent life they desired.

DISCUSSION

Overall, the participants demonstrated a strong attachment to the pediatric hospital that had once taken extremely good care of them. Once forced to transition their care to the adult healthcare system, they felt lost, and they did not know where to go to seek proper medical care. After learning about the new partnership being created with NPs in the adult healthcare system, the participants felt relieved and hopeful that their medical concerns would soon be addressed. The participants were comforted in knowing that the NPs had been trained by the pediatric hospital, and they could resume medical attention from qualified individuals knowledgeable about their uncommon condition.

Despite entering an adult healthcare system ill-equipped to receive them and confronted with clinicians unfamiliar with OI, participants showcased their ability to manage some aspects of their OI, demonstrating their resilient attributes. Resilience is a “dynamic process encompassing positive adaptation within the context of significant adversity.”26(p543) Most participants exhibited an ability to troubleshoot challenges and physical barriers and independently manage varying activities of daily living. Participants self-managed by utilizing their support networks, adapting their environments to their needs, and approaching healthcare providers for self-identified care needs. In addition, participants showed a willingness to be followed specifically for their condition by a knowledgeable clinician.

Their ability to overcome obstacles is one of several resilient characteristics described in the OI literature. Many individuals with OI have a “fighter” personality, are easily able to adapt to life challenges including the physical and emotional consequences of multiple bone fractures, and are willing to take on new challenges despite the environmental barriers presented at hand.24 In other pediatric populations, the increased capacity for resiliency is related to positive relationships encountered with caring adults (eg, parents and clinicians) and effective caregiving.27 All the participants reported the utilization of support from friends and family after a fracture or for activities of daily living. This positive support from family and friends may be correlated to the participants' ability to self-manage their condition in a system they felt was ill prepared to receive them.

Although participants showcased varying resilient characteristics, they faced varying healthcare system barriers in managing their condition in the adult healthcare system. Similar to young adults with type 1 diabetes and congenital heart disease, participants in our study experienced a loss of follow-up after leaving the pediatric setting (a minimum of 3 years), and many of the resources available to them were now more difficult to access in the adult healthcare system.22,28,29 In addition, participants encountered clinicians in the adult healthcare system unfamiliar with their condition, a knowledge gap often encountered by clinicians in the adult healthcare system.6,8 With the pediatric healthcare system offering minimal preparation and education on self-management topics (eg, related to aging with OI, preventive screening measures in adulthood, devising a fracture plan and navigating the adult healthcare system), the participants in the present study along with the OI population may remain at heightened risk of adverse events once transitioned in the adult healthcare system. Hence, efforts are needed from both healthcare systems to remove these barriers to optimize the transition for these young people with OI.

The creation of a partnership with NPs in the adult healthcare system was one effort to optimize the accessibility of health services. After meeting with an NP for the first time, participants felt they were “getting back in the loop” and were finally able to address with their unmet needs. Crowley et al15 found the majority of transition programs successful in increasing health outcomes and follow-up for former pediatric patients were those that targeted education (about their condition and symptom management) and/or included a young adult clinic in an adult setting or one that “overlapped” with a pediatric and adult care setting. Preliminary evidence in the OI literature supports a transition program, which would prepare patients to navigate the adult system and educate them about ongoing symptom management and how to cope with new health concerns arising in adulthood including pain,4 sleep,30 and other health concerns.31 Our findings as well as others support the creation of a transition program that includes referring young adults with OI to NPs trained in the management of OI in the adult healthcare system.

PRACTICE AND RESEARCH IMPLICATIONS

In contrast to medicine, nursing's contribution to this field of transition and body of literature has been limited32 but is now growing.33 Historically, medicine's predominant role in shaping policy, practice, and research has shaped the models of healthcare transition and areas of research investigation.32 In 2013, Betz32 argued there were few exemplary, sustainable, evidence-based models of healthcare transition and called upon nursing leaders in pediatric and adult nursing to initiate more visible efforts to infuse this area of practice within nursing and interdisciplinary perspectives. Recently, there has been an increase in innovative nurse-led interventions for healthcare transition with nursing playing an essential role in the transition process in collaboration with other members of the interdisciplinary team.33 The CNS plays a central role in the introduction and use of a transition pathway in the provision of support to patients in need of lifelong care.10 A CNS makes an excellent candidate for the role of a transition care coordinator encompassing knowledge, skill, and training as a clinical expert, consultant, change agent, leader, researcher, and educator.34 The CNS has the capacity to hold pivotal roles as team leaders, designers, and implementers of transition interventions and as communicators between pediatric and adult services.33 However, recognizing not all institutions may benefit from a CNS role, there is an opportunity for increased collaboration, partnerships, and building capacity across settings. Certainly, at the core remains the prominent role of the registered nurse who may continue to support adolescents' empowerment by establishing a trusting relationship, valuing the adolescent's perspective, creating positive environment, and avoiding judgment.33 Ongoing fostering of empowerment is associated with improved quality of life and well-being and clinical outcomes.33

Similar to other young adults with chronic illnesses35,36 the participants made several suggestions to optimize the transition process for future OI patients including establishing preliminary contact with a clinician in the adult setting before leaving the pediatric setting. A preliminary meeting with a clinician before transitioning allows patients to set realistic expectations and helps them integrate into the adult healthcare system.37 To fully optimize this opportunity, the development of a program for clinicians to “take on” young adults with OI needs to be created alongside a sustainable method of providing training, resources, and ongoing support from the pediatric system to help clinicians provide comprehensive care for patients with childhood-onset conditions. Varying tools need to be developed and implemented to facilitate care such as one that summarizes the patient's pediatric record to facilitate the transfer their health information and can be used during the requested “preliminary” meeting.38,39 Another suggestion by the participants was the creation of a peer mentorship program, which is associated with numerous positive outcomes such as having a sense of normality, decreasing feelings of isolation, and increasing self-management behaviors.40

Integral to optimizing the transition process for adolescents and young adults with OI would be the creation of a self-management and transitional care program.15,22 Based on the study findings, the program should target (1) communication (eg, how to effectively explain OI to clinicians); (2) symptom management (eg, how to develop a fracture plan, information about long-term health effects of OI,31 and what long-term follow-up is needed such bone density scans and hearing tests); (3) navigating and accessing resources (eg, provide a list of clinicians knowledgeable about OI, teach how to navigate resources); and (4) support networks (eg, set up a peer mentorship program and other support networks). Similarly, the program should include a component for clinicians in the adult healthcare system providing them access to knowledge, tools, networks, and resources tailored to optimal provision of OI care. The creation of such a program will require significant resources for a geographically dispersed population; thus, web-based applications may be a cost-effective approach to delivering information to patients as well as training and providing education resources to clinicians.24 Collectively, all these recommendations will be subject to ongoing research and quality improvement initiatives to improve the self-management and transitional care outcomes of adolescents and young adults with OI.

STRENGTHS AND LIMITATIONS

A rich description of the self-management needs was derived from a small sample of young adults with varying ages, types of OI, time since leaving the pediatric system, mobility, and independence in their activities of daily living, justifying the need for the creation and mobilization of various programs and health services. The sample size was partially due to capacity of the NPs to take on additional “complex” patients, the availability of local patients to be admitted into the local practice, and the time and resources devoted to this research. A follow-up, longitudinal study is warranted to survey the entire population transitioning from the pediatric healthcare system into the adult healthcare system to fully appreciate the spectrum of their self-management and transitional care needs and associated outcomes. Moreover, the current research design did not include the perspective of the NPs or other stakeholders, as some of the preliminary work had already been conducted with other clinicians from the adult healthcare system, but may have further illuminated some of the systems-level barriers.8 Finally, this study was conducted in the context of the Canadian healthcare system, which may limit the transferability.

CONCLUSION

This study provided preliminary insight into the needs of young adults with OI, justifying the creation of a self-management and transitional care program that includes education, mentorship, and partnerships. The results from this study indicate the viability of utilizing adult NPs trained in the care of childhood-onset conditions to aid in the transition process for young adults with childhood-onset conditions including those with OI. Clinical and research implications ensue with the ultimate goal of optimizing the self-management and transitional care services of adolescent and young adults with OI transitioning locally and globally.

ACKNOWLEDGMENTS

The authors thank Drs Ariella Lang, Margaret Purden, and Antonia Arnaert for their advice and support during the course of study. They thank the young adults who participated in the study and the NPs who participated in their quality improvement initiatives.

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Keywords:

nurse practitioner; osteogenesis imperfecta; primary care; transition; young adults

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