“Rare place where I feel normal”: Perceptions of a social support conference among parents of and people with Moebius syndrome

Bogart, Kathleen R.; Frandrup, Erika; Locke, Taylor; Thompson, Hanna; Weber, Natalie; Yates, Jacqueline; Zike, Nicholas; Hemmesch, Amanda R.

doi:10.1016/j.ridd.2017.03.014

Cited by 15 publications

(15 citation statements)

References 35 publications

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“…but most have never done so [ 3 ]. Research on the RD Moebius syndrome suggests that offering ways for people with RDs to gather for social support may buttress quality of life by reducing stigma, increasing knowledgeability about the RD, and reducing isolation [ 32 , 33 ]. Our group is currently examining the support needs of people with RD to better understand unique challenges and identify sources of resilience to be built upon.…”

Section: Discussionmentioning

confidence: 99%

Health-related quality of life among adults with diverse rare disorders

Bogart

Irvin

2017

Orphanet J Rare Dis

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113

118

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BackgroundTwenty-five to 30 million Americans live with a rare disease (RD) and share challenges unique to RD. The majority of research on RDs has focused on etiology, treatment and care, while the limited health-related quality of life (HRQL) research has been restricted to single RDs, small samples, or non-validated measures. This study reports HRQL among adults with diverse RDs, and compares their scores to those of the U.S. population and people with common chronic health conditions.MethodsWe conducted a cross-sectional survey of adults living in the U.S. diagnosed with any RD. Participants were recruited through RD organizations and completed the online survey between December 2016 and May 2017 (n = 1218). HRQL was assessed using the standardized Patient-Reported Outcomes Measurement Information System (PROMIS). RDs were classified into categories defined by Orphanet. Means and 95% confidence intervals were calculated for the main sample and for RD categories and were compared to published U.S. population norms and common chronic disease norms. Intercorrelations were conducted between HRQL, demographics, and RD experiences.ResultsWhen compared to the norms for the U.S. population and for those with common chronic diseases, mean HRQL scores were significantly poorer across all six PROMIS domains for the main sample, and were usually poorer when analyzed by sub-sets of specific RD classifications. People with rare systemic and rheumatologic, neurological, and immune diseases had the poorest HRQL. Participants had poorer HRQL if they had multiple RDs, lower income, were female, or older. Having symptoms longer was associated with worse HRQL, however, having a formal diagnosis longer was associated with better HRQL.ConclusionsThis study is the first to examine HRQL in a large, heterogeneous sample of RDs using validated measures. There is a significant disparity in HRQL among people with RD compared to the general population and people with common chronic diseases. Poor HRQL could be attributed to challenges accessing diagnoses, medical information, treatment, psychosocial support, and coping with stigma and uncertainty. As most individuals with RDs will not be cured in their lifetimes, identifying ways to improve HRQL is crucial to patient-centered care and should be a funding priority.

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Section: Discussionmentioning

confidence: 99%

Health-related quality of life among adults with diverse rare disorders

Bogart

Irvin

2017

Orphanet J Rare Dis

Self Cite

113

118

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“…Therefore, a network of social support plays a crucial role in maintaining control over chronic conditions (Chen et al, 2018). Social support may be particularly important for high-risk groups of parents (Ergh et al, 2002), such as those who must care for a child with a rare disease (Bogart et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

The Caregiving Experiences of Fathers and Mothers of Children With Rare Diseases in Italy: Challenges and Social Support Perceptions

2019

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Family caregiving is a growing phenomenon with the increased prevalence of chronic illness and shorter hospitalizations. Rare diseases pose significant challenges not only to patients living with these kinds of pathologies but also to those who care for these patients. The caregiving role has specific characteristics. The present work aims to increase knowledge of the challenges that are common or specific to fathers and mothers of children diagnosed with a rare disease. Moreover, the paper analyses the kinds of social support they experience according to gender. A descriptive study was conducted using grounded theory methodology. A semi-structured interview with open-ended questions was conducted with 15 parents of children with a rare disease. The interview was organized into three main areas: personal experiences in caring for a child with a rare disease, family changes and perceived social support. The transcriptions were analyzed using NVivo 11 software. From data analysis, themes emerged regarding the challenges shared by fathers and mothers, but some aspects also emerged that were gender-specific. The analyses of differences between mothers’ and fathers’ narratives showed that there is a specific experience of the impact that caregiving has on parents’ relationships with their jobs and on their worries. Self-help group is the main source of social support for all respondents. We discuss these findings in relation to possible appropriate specific interventions and support for family caregiving.

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“…Along those lines, a support conference for a single rare disease, Moebius syndrome, increased perceived knowledge shown in a predesign-postdesign. 39 Additionally, it may be an economically efficient approach in the face of finite healthcare resources. While the intervention may help improve overall quality of life by fostering constructive coping, it cannot replace psychotherapy or address specific psychiatric conditions.…”

Section: Discussion and Conclusion General Discussionmentioning

confidence: 99%

Acceptance and commitment therapy meets peer-support. Development of a supportive self-care intervention for patients with rare diseases: a multistage development process

Uhlenbusch

Löwe

2021

BMJ Open

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ObjectiveWe aimed at developing a patient-centred self-help programme, tailored to the needs of patients with rare chronic diseases.DesignMultistage, multimethod development process including a survey with validated self-report scales and open-ended questions (phase 1) and focus groups (phase 2) for needs assessment and, consolidating the first phases and the literature, the intervention development (phase 3).SettingPhase 1: nationwide online survey in Germany, phase 2: four separate and diagnostically homogeneous focus groups. The focus groups took place at a university medical centre in Germany.ParticipantsTarget group were patients with rare diseases that occur at a prevalence <1:2000. Phase 1: n=300 participants with different rare diseases. Phase 2: Individuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5).ResultsThe central results of phases 1 and 2 were requests for more information about the disease and contact with other affected persons. Patients also expressed support needs in dealing with difficult emotions and identified acceptance of the disease as a turning point for quality of life. In phase 3, we identified acceptance and commitment therapy (ACT) as a suitable therapeutic approach and determined details about implementation and execution of self-management programmes. A 6-week self-help concept led by peer counsellors was developed, which includes disease-specific information and ACT-based exercises.ConclusionBased on a multistage needs assessment, we developed a peer-guided self-help intervention for patients with rare chronic diseases. Combining self-management, peer-counselling and ACT may help living with a rare condition. Further research needs to test the programme’s efficacy.Trial registration numberISRCTN13738704.

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“Rare place where I feel normal”: Perceptions of a social support conference among parents of and people with Moebius syndrome

Cited by 15 publications

References 35 publications

Health-related quality of life among adults with diverse rare disorders

Health-related quality of life among adults with diverse rare disorders

The Caregiving Experiences of Fathers and Mothers of Children With Rare Diseases in Italy: Challenges and Social Support Perceptions

Acceptance and commitment therapy meets peer-support. Development of a supportive self-care intervention for patients with rare diseases: a multistage development process

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