Mental Health in Rare Conditions

Mental well-being is a significant concern for individuals living with rare diseases and their caregivers. The UK National Health Service website describes good mental health as “a state of wellbeing that enables patients and their families to cope with the stresses of life, learn and work well, and develop and maintain positive relationships” (1).

An online survey of 1,231 people living with a rare disease and 564 carers in the UK found that over 90% of respondents reported feeling anxious, stressed, or depressed due to their rare condition, and 36% of patients and 19% of their carers expressed having had suicidal thoughts (2).

Several factors have been described as contributing to the mental health challenges faced by those affected by rare diseases:

• Diagnostic odyssey: The lengthy and often traumatic process of obtaining a diagnosis (3) can lead to reduced trust in healthcare professionals and feelings of frustration (4).

• Limited knowledge: Healthcare professionals' lack of familiarity with rare conditions can result in patients feeling misunderstood or not taken seriously (5, 10).

• Uncertainty: The unpredictable nature of rare diseases and concerns about the future contribute to anxiety and stress (2).

• Social isolation: Lack of public awareness and difficulty explaining the condition to others can lead to feelings of loneliness and isolation (2, 6).

• Financial strain: The high costs associated with rare disease management and treatment can exacerbate stress and anxiety (7, 8, 9).

Despite the prevalence of mental health issues, many patients and caregivers report inadequate information (2, 9) and a lack of support from healthcare systems (10, 11). This is no doubt linked to the lack of physician training in rare disease-related mental health (12).

Looking to the future to address these challenges, recommendations include:

• Integrating mental health assessments into routine care for people with rare diseases from the point of diagnosis and throughout their ongoing care.

• Improving healthcare professionals' training to better recognise and address mental health needs.

• Enhancing access to psychological support services and peer support groups.

• Increasing awareness and understanding of rare diseases among healthcare providers and the general public.

By addressing the mental health aspects of rare diseases, healthcare systems can provide more comprehensive and effective care for patients and their caregivers, ultimately improving their overall quality of life.

SHOUT is committed to raising awareness of mental health problems for people living with rare diseases and their families, and continues to collaborate with the Eurordis Mental Health Group.

References:

1. NHS Mental health and rare disease. 2014. Accessed February 2025. https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/mental-health-and-rare-disease/

2. Spencer-Tansley R, Meade N, Ali F, Simpson A, Hunter A. Mental health care for rare disease in the UK – recommendations from a quantitative survey and multi-stakeholder workshop. BMC Health Serv Res 22, 648 (2022). https://doi.org/10.1186/s12913-022-08060-9

3. Zhang Z. Diagnosing rare diseases and mental well-being: a family’s story. Orphanet Journal of Rare Diseases. 2023, 18; 45.  doi: 10.1186/s13023-023-02648-y

4. Phillips C, Parkinson A, Namsrai T, Chalmers A, Dews C, Gregory D, Kelly E, Lowe C, Desborough J. Time to diagnosis for a rare disease: managing medical uncertainty. A qualitative study. Orphanet Journal of Rare Diseases (2024) 19:297. https://doi.org/10.1186/s13023-024-03319-2

5. Nunn, R. “It’s not all in my head!” - The complex relationship between rare diseases and mental health problems. Orphanet J Rare Dis 12, 29 (2017). https://doi.org/10.1186/s13023-017-0591-7

6. World health Organization. Rare diseases: a global health priority for equity and inclusion. Accessed February 2025. https://apps.who.int/gb/ebwha/pdf_files/EB156/B156_CONF2-en.pdf

7. Genetic Alliance UK. The hidden costs of rare disease. A feasibility study. London: Genetic Alliance UK; 2016. Accessed February 2025. https://www.geneticalliance.org.uk/media/2502/hidden‑costs‑full‑report_21916‑v2‑1.pdf.

8. Richardson T, Rice M, Lyon ME, Kobernick M, Brackbill L. Impact of mental health in persons living with rare disease: Findings from the AMCP Market Insights Program. Journal of Managed Care & Specialty Pharmacy. 2024, 30; 7: Suppl. Accessed February 2025. https://www.jmcp.org/doi/10.18553/jmcp.2024.30.7-b.s1

9. Kenny T, Stone J. Psychological Support at Diagnosis of a Rare Disease. 2022. Accessed February 2025. https://www.infocoponline.es/pdf/220202-Literature-Review-Report.pdf

10. Nerney D, O’Malley EO, Kenny C, Ward A, Sweeney  G, McGrath V, Egan L, Treacy E. Psychological supports for people living with a rare disease in Ireland: an online survey-based study. Irish Journal of Medical Science. 2025. Accessed February 2025. https://doi.org/10.1007/s11845-025-03902-x

11. Bogart K, Hemmesch A, Barnes E et al. Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseases. Orphanet J Rare Dis. 2022, 17; 196.  17:196. https://doi.org/10.1186/s13023-022-02343-4

12. Ramalle-Gómara E, Domínguez-Garrido E, Gómez-Eguílaz M, Marzo-Sola ME, Ramón-Trapero JL, Gil-de-Gómez J. Education and information needs for physicians about rare diseases in Spain. Orphanet J Rare Dis. 2020 Jan 17;15(1):18. doi: 10.1186/s13023-019-1285-0.