Living with a rare condition: the effect on mental health (2018)

This work evolved out of an inquiry conducted by the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions, which identified mental health as a key issue facing rare disease patients and carers. Attendees shared the significant impact rare disease can have on mental health, and described the unmet mental health needs of patients and carers who frequently struggle to access support around these issues. These experiences echoed anecdotes from members of Rare Disease UK, Genetic Alliance UK, and SWAN UK; including those within Rare Disease UK’s recent Patient Experience Report.

This study was carried out to help develop a fuller, clearer picture of the relationship between rare disease and mental health.

The findings, published ahead of UK Mental Health Awareness Week, reveal that:

  • Living with a rare condition can have a huge impact, including anxiety, stress, low mood, emotional exhaustion and suicidal thoughts.
  • Many of the drivers of poor mental health reflect issues that are specific to managing a condition that is rare, and that patients/carers face challenges at many points during their journey from the onset of symptoms onwards.
  • Patients and carers can experience not being taken seriously by healthcare professionals, and sometimes being misdiagnosed with psychiatric illness, when trying to access support for their physical condition. This can have both physical and mental health implications.

Key findings of the interviews and survey led to a series of recommendations that were refined through consultation at a workshop with external stakeholders:

Recommendation 1: Healthcare professionals should be provided with the skills, knowledge and capacity to:

  • demonstrate awareness of the emotional challenges of living with a rare disease;
  • handle discussions about mental health sensitively.

Recommendation 2: Patients and carers should be routinely signposted  to sources of support by healthcare professionals.

Recommendation 3: Coordinated rare disease services should include assessment of mental health needs and access to mental health services. This should be extended to carers.

If effectively implemented, these changes could do much to address some of the mental health issues patients and carers currently face; and to ensure that mental health is considered as important as rare disease patients’ and carers’ physical health.

Accessing support about mental health

If you would like to talk to somebody about mental health or wellbeing, in the first instance you should talk to your GP.

You can also access information or support about mental health from:

Samaritans, which offers free, confidential, 24-hour emotional support over the phone (116 123) or by email (, or face-to-face at your local branch:

Mind, the mental health charity, offers information about mental health and accessing support on their website ( They also provide information over the phone (0300 123 3393), by email ( or by text (86463).

Mind has also launched a ‘Find the Words’ Campaign. This aims to support individuals in talking about mental health with their GP:

Carers UK also offers a free helpline (0808 808 7777) that offers advice on financial and practical matters related to caring, as well as a listening service. They also provide a free online carers forum:

The poster we produced for the ninth European Conference on Rare Diseases and Orphan Products (ECRD) has been published in the Orphanet Journal of Rare Diseases. You can read the publication here.