Silenced Voices: Adolescents and Rare Diseases

Source: Tsitsani, P., Katsaras, G., & Soteriades, E. S. (2023). Barriers to and Facilitators of Providing Care for Adolescents Suffering from Rare Diseases: A Mixed Systematic Review. Pediatric Reports, 15(3), 462-482. https://doi.org/10.3390/pediatric15030043

Highlights

“Rare diseases (RDs) affect 3.5-5.9% of the population, 80% of which are considered genetic and approximately 70% present mainly in childhood (0-18 years) [1].
Few studies emphasize the inadequacy of integrated care practices as a key element in improving the family’s quality of life when the adolescent suffers from an RD [14,61].
This mixed systematic review used the ecological model of health to identify the barriers and facilitators to optimal healthcare provision, as perceived by adolescents with RDs and their parents.
The moral and cultural awareness of the professionals involved can be an important mobilization mechanism, but the implementation of specific interventions by a central authority is the cornerstone for improving the system.
As far as we know, this is the first review that attempts to provide a systematic overview of the barriers and facilitators in optimizing the care provided to adolescents with Rare Diseases, as perceived by the patients themselves and their parents.
More detailed studies of adolescents and parents are needed to enhance their voices and communicate their concerns to health policymakers.”

Few studies emphasize the inadequacy of integrated care practices as a key element in improving the family’s quality of life when the adolescent suffers from a rare disease.

Summary

“Rare diseases in adolescents require a multidisciplinary approach and specialized treatments, but barriers at the institutional and public policy level often lead to unmet care needs and frustrating family dynamics.
A team led by Pelagia Tsitsani from the Open University of Cyprus (2023) reported in ‘Barriers and Facilitators in the Provision of Care for Adolescents Suffering from Rare Diseases’ that Rare Diseases affect a small percentage of the population, the majority being of genetic origin and presenting mainly in childhood.

Integrated care practices are inadequate to improve the quality of life of adolescents with Rare Diseases. A mixed systematic review was conducted to identify barriers and facilitators to the optimal provision of healthcare for these patients. The moral and cultural awareness of professionals and specific interventions by a central authority are important for improving the system.

More detailed studies are needed to amplify the voices of adolescents and parents in the formulation of health policies. The review found that specific dimensions of health care intersect and a shortage of policies at one level affects all levels. Delays and denials were found in diagnostic processes and treatments covered by insurance.

The study aims to address the gap in understanding the perceptions of adolescent patients and their parents about healthcare provision for Rare Diseases. DRs take a long and difficult time to diagnose and require specialized and expensive treatments.

Adolescents with RDs have complex medical needs that require a multidimensional approach to care. The diversity of health systems makes a universal approach to DRs challenging, but there is a need for global policies and comprehensive action plans.

The researchers evaluated 25 selected studies.

The findings seem to consolidate previous work on this subject: ‘Health-related stigma, bullying and social disorientation are significant barriers to providing optimal care for affected adolescents, as previous studies have shown that improvements in treatment have not fully addressed the issues of everyday normality and school acceptance,’ suggested Tsitsani.

Discussing possible shortcomings, ‘This review used a systematic mixed-methods approach to analyze studies from various countries and research traditions on rare diseases in adolescents. The findings should be considered in the context of cultural bias. The analysis focused on identifying common themes and barriers in health care for rare diseases, but more specific studies are needed for individual diagnoses,’ they note.

The authors argue that more research into the personal narratives of teens and parents is needed to address the limitations on their voices in larger influences and industry circles.”

The article in questions and answers

What are some of the main barriers identified in caring for adolescents with rare diseases?

Some of the main barriers identified in the provision of care to adolescents with rare diseases include:

Insufficient training for primary care professionals, who are often the first point of contact for families and responsible for the follow-up care of chronic illnesses.
Disconnections between services, even between professionals in the same service, leading to poor information transfer in public administrations.
Lack of public funding, limited pharmaceutical interest and inadequate academic/research funding and programming for rare diseases.
Challenges in accessing holistic care, emotional and financial exhaustion among families and lack of systematic psychosocial support.
Inequality and inaccessibility in care, dissatisfaction with frequent relapses and hospitalizations, and difficulties in the transition from paediatric to adult care.

These barriers highlight the complex and multifaceted challenges faced by adolescents with rare diseases and their families in accessing adequate care and support.

How can a multidisciplinary approach help meet the complex needs of these patients?

A multidisciplinary approach can help meet the complex needs of adolescents with rare diseases:

Providing comprehensive care: Different health professionals from various disciplines, such as pediatricians, geneticists, psychologists, occupational therapists and physiotherapists, can collaborate to meet the diverse medical, psychological and social needs of patients.
Improving coordination: By working together, multidisciplinary teams can ensure better coordination of care, leading to more effective treatment plans and better outcomes for patients.
Facilitating holistic support: This approach allows for a holistic assessment of the patient’s needs, including physical, emotional and social aspects, leading to more personalized and patient-centered care.
Improve the transition of care: Multidisciplinary teams can facilitate a smoother transition from pediatric to adult care by ensuring continuity of care and addressing the unique challenges faced during this transition period .
Promoting patient empowerment: By involving various professionals, patients and their families can be empowered to actively participate in decision-making regarding their care, leading to better health outcomes and a better quality of life .

Overall, a multidisciplinary approach plays a crucial role in meeting the complex and diverse needs of adolescents with rare diseases, ensuring comprehensive care, better coordination and better outcomes for these patients.

What are some of the facilitators highlighted in the review that can improve care and outcomes for adolescents with rare diseases?

Some of the facilitators highlighted in the review that can improve care and outcomes for adolescents with rare diseases include:

National Rare Disease Registries: Taxonomized registries associated with appropriate medications and treatments can make young patients “visible” and recognized by the health system, facilitating better care.
Patient advocacy groups: Dynamic groups and national organizations for rare diseases can direct families to psychosocial services, increase patient autonomy and improve social inclusion .
Health coordinators: Having an official health coordinator for all aspects of the disease from the moment of diagnosis is considered a milestone for effective care.
Self-support groups: These groups can provide emotional support, information sharing and a sense of community for patients and families, contributing to better health outcomes.
Well-informed team of providers: Having a team of healthcare professionals with knowledge of rare diseases and their management can lead to better coordination of care and better results.
Availability of orphan drugs: Access to orphan drugs adapted for rare diseases can have a significant impact on the treatment and management of these diseases, improving patient outcomes.
Surveys using validated tools: Surveys assessing the impact of policies on the health functioning of rare disease patients can help understand their needs and ensure that they are not neglected in the health system.
These facilitators play a crucial role in improving care and outcomes for adolescents with rare diseases, addressing various aspects of care coordination, support and access to specialized treatments.

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