Research highlights mental health impact of rare disease diagnosis

Life sciences talent and strategic consultancy, RBW Consulting, has unveiled the findings of a year-long research project into the mental health impact of a rare disease diagnosis.

As part of its ongoing commitment to supporting patient-focused initiatives, in 2021 RBW Consulting fully funded the project led by Rare Disease Research Partners (RDRP), an organisation focused specifically on supporting research and access to treatment for people living with rare conditions.

Recognising gaps in both the evidence base and practical guidance on the type and extent of psychological support needed by families and caregivers of children at the time of rare disease diagnosis, RDRP conducted an extensive literature review and working with a panel of experts, developed a statement of good practice to raise awareness of the topic and provide guidance and support for healthcare and other supporting professionals and organisations. 

The findings crystallised elements of the diagnosis journey which contribute to an increased risk of negative mental health outcomes for the individual and their family, which include a delay in receiving a diagnosis, poor diagnostic delivery, and a lack of information immediately after diagnosis. The statement of good practice aims to address these with recommendations for an improved approach. It has already been endorsed by many individuals and organisations in the rare disease community, including EURORDIS, National MPS Society, Medics4RareDiseases, Genetic Alliance and Cambridge Rare Disease Network.

Emma Thorp, chief growth officer at RBW Consulting, said: “I know first-hand the impact a rare disease diagnosis can have on a family, and as a business, we’ve always wanted to “give back.” Investing in patient-focused research is the most relevant, most immediate way of impacting the patient populations that our clients serve. I'm delighted that we’ve been able to launch this research to coincide with Rare Disease Day 2022 and our hope is that it initiates further discussion around the practical ways that all those involved can work together to optimally support the rare disease community.” 

Dr Tom Kenny, CEO of RDRP, added: “Receiving a rare disease diagnosis is a pivotal point for a patient and their families. It can be an isolating and troubling time and without the right support it can have a long-lasting and negative impact on the mental health outcomes of the individual. Our research shows, however, that with the recommended safeguards and practices in place, the entire patient experience can be transformed.”