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Experiences of rare inherited disorders in adults

In Sweden a disorder is considered rare if less than 100 in one million inhabitants have the disorder or condition and it causes a disability. For most people with a rare diagnosis, the disorder affects quality of life and daily activities like work, studies and hobbies.

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SBU Enquiry Service

Consists of structured literature searches to highlight studies that can address questions received by the SBU Enquiry Service from Swedish healthcare or social service providers. We assess the risk of bias in systematic reviews and when needed also quality and transferability of results in health economic studies. Relevant references are compiled by an SBU staff member, in consultation with an external expert when needed.

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Report no: ut201924 Registration no: SBU 2018/334

Question

What scientific studies are there on experiences of rare inherited disorders in adults?

Identified literature

Table 1. Systematic reviews with low/medium risk of bias
CF = Cystic fibrosis; OI = Osteogenesis imperfecta; PCD = Primary ciliary dyskinesia; PROM = Patient-reported outcome measure
Included studies Population Phenomenon of interest
Hill et al 2018 [1]
3 of 13 studies were qualitative or mixed-methods and had one or several participants ≥18 years old People with OI/people with experience of living with someone affected with OI/health professionals and advocates who work with people affected with OI Experiences and psychosocial impact of OI on families and caregivers
Authors' conclusion:
”The findings of this review clearly highlight that OI is a condition that impacts on the whole family. Our review identified several gaps in the literature, such as the under-representation of siblings and fathers, that should be addressed in future studies. Research that considers possible interventions across the lifespan that target all family members is also needed. It is important to provide health and education that aims to support all family members that can be adapted to fit with the unique needs of individual families.”
Behan et al 2017 [2]
2 of 14 studies were qualitative and on adult patients PCD patients of all age groups Experiences and perspective of PCD patients of all age groups or where patients completed PROMSs as primary or secondary outcomes
Authors' conclusion:
”The findings of this review indicate the physical impact, emotional and stigmatising impact of PCD. They highlight the need for well-designed, quantitative studies using PCD-specific health-related quality of life measures to accurately determine the factors that impact PCD. There is also a need for the experience of patients to be further examined across ethnicities to evaluate various nuances between cultures. This will lead to better care, management, and outcomes for PCD patients.”
Macdonald et al 2016 [3]
8 qualitative studies
Sample sizes: 10–40 participants		 Adults with CF who are maintaining a medication regimen Experiences and perceptions of taking prescribed medication to treat their CF and related conditions
Authors' conclusion:
“Adults with CF carry a psychosocial burden to adhere to what healthcare providers expect, while trying to live a ‘‘normal’’ life. Consideration needs to be given to exploring with individuals what degree of adherence will assist them in maintaining health, yet be able to enjoy life.”
Waldboth et al 2016 [4]
17 of 33 studies were qualitative and had one or several participants ≥18 years old Young individuals with a genetic disease (14–30 years old) and his or her family Experiences of families living with a chronic childhood disease during transition into adulthood
Authors' conclusion:
Young people and their family members experience multiple challenges during the young persons’ transition into adulthood. Failure to successfully negotiate this developmental stage may have consequences not only for the ill individual but also for the whole family. Thus, a family systems perspective to research and care is indicated to ensure that these individuals receive the best support available to cope with their complex life and health situation.”
Jamiesson et al 2014 [5]
19 of 43 qualitative studies had one or several participants ≥18 years old
Sample sizes: 3–101 participants		 Children and adolescents with CF Experiences and perspectives of children and adolescents with CF
Authors' conclusion:
“Adolescents and children with CF report a sense of vulnerability, loss of independence and opportunities, isolation, and disempowerment. This reinforces the importance of the current model of multidisciplinary patient-centered care that promotes shared decision-making, control and self-efficacy in treatment management, educational and vocational opportunities, and physical and social functioning, which can lead to optimal treatment, health, and quality of life outcomes.”

References

  1. Hill M, Lewis C, Riddington M, Crowe B, DeVile C, Götherström C, et al. Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review. Disability and Health Journal 2019.
  2. Behan L, Rubbo B, Lucas JS, Dunn Galvin A. The patient’s experience of primary ciliary dyskinesia: a systematic review. Quality of Life Research 2017;26:2265-2285.
  3. Macdonald M, Martin-Misener R, Helwig M, Smith LJ, Godfrey CM, Curran J, et al. Experiences of adults with cystic fibrosis in adhering to medication regimens: a qualitative systematic review. JBI Database Of Systematic Reviews And Implementation Reports 2016;14:258-85.
  4. Waldboth V, Patch C, Mahrer-Imhof R, Metcalfe A. Living a normal life in an extraordinary way: A systematic review investigating experiences of families of young people's transition into adulthood when affected by a genetic and chronic childhood condition. International Journal of Nursing Studies 2016;62:44-59.
  5. Jamieson N, Fitzgerald D, Singh-Grewal D, Hanson CS, Craig JC, Tong A. Children's experiences of cystic fibrosis: a systematic review of qualitative studies. Pediatrics 2014;133:e1683-97.
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