Living with a Rare Condition: the Effect on Mental Health

31 May 2018

An Inquiry conducted by the All Parliamentary Group on Rare, Genetic and Undiagnosed Conditions (funded by public donations to the Genetic Alliance UK) identified mental health as a key issue facing rare disease patients and carers.

One key recommendation is for a central organisation such as NZORD to assist the signposting to support groups.

The Inquiry focused on the unmet needs of patients and carers who frequently struggle to access support around mental health.

· 95% felt worried or anxious because of their rare disease

· 93% have felt stressed

· 90% have felt low

· 88% have felt emotionally exhausted

· 70% have felt at breaking point

“I’ve sort of pushed for things for myself and had to practically beg for help, and you do get to the point where you just want to lie down and not be bothered by anyone, not eat, not do anything (but) because you want to have a life, you’re fighting it all the time and that’s a constant stress on your mind, body, on everything, every aspect of your life.” Patient


Major impact on patients with difficulties trying to gain a diagnosis which can be exacerbated by low awareness and not being believed by healthcare professionals when presenting with symptoms.

· 36% of patients and 19% of carers have suicidal thoughts

· 88% felt that poor awareness of their condition had a negative effect on their mental health

· 83 % felt they were not being believed among healthcare professionals

· 79% felt that poor care coordination had a negative effect on their mental health

“You get to the point where sometimes you don’t even want to see a doctor anymore because it’s the fear of being ridiculed and being labelled, you know, as somebody that it’s all in your head basically when you know it’s not, and you can actually see the symptoms and feel them happening.” Patient


Patients and carer feel that many healthcare professionals do not demonstrate an awareness of the emotional impact of having a rare disease or of caring for a loved one with a rare disease.

· 91% stated better awareness would improve their emotional wellbeing

· 50% are never asked about their mental health

Well-handled interactions are a great source of relief, however insensitivity leads to distress and reluctance to seek help for mental health concerns. 34% felt that discussion with their healthcare professionals made them feel worse with 44% saying they felt anxious and 37% uncomfortable.


Sources of support such as peer group networks are highly valued but patients are frequently not made aware of their availability. 41% had not accessed support groups

The most common reason was that people didn’t know how to find them, or that there is too much pressure of time (particularly for carers) and many had not thought about accessing this help.

“You definitely do need somebody at the very start to sort of be there to be your talk buddy or somebody, definitely. It’s all those emotions that you’re going through at the very start, you know, because they’re all so overwhelming.” Patient


· Healthcare professionals need to be provided with skills, knowledge and capacity to demonstrate awareness of the emotional challenges of living with a rare disease and handle discussions about mental health sensitively

· Patients and carers should be directed to sources of support by healthcare professionals

· Coordinated rare disease services should include assessment of mental health needs and access to services (includes carers)

Genetic Alliance UK is seeking funding to pilot and design a programme to develop training and resources for rare and genetic condition support groups to play a role in supporting the mental health needs of their community.

Living with a Rare Condition: the Effect on Mental Health Report