Research project to investigate mental health impact of rare diseases

Life science and technology search consultancy RBW Consulting is funding a clinical research project in partnership with Rare Disease Research Partners to provide insight into how a rare disease diagnosis can affect the mental health of the patient, their family and carers.  

While each rare disease affects less than 1 in 2,000 people, the total number of people living with a rare disease is 3.5% - 5.9% of the world’s population. Often chronic and life-threatening, with no known effective treatment, and with a large percentage of cases presenting in young children, a rare disease diagnosis has a profound and unique impact on everyone affected. The UK government has recently acknowledged the serious issues that rare disease patients face by announcing its Rare Disease Framework. The aim of the new framework is to speed up diagnosis, increase awareness and improve treatment and care of more than 3.5 million people with rare diseases in the UK. 

The progressive nature of rare diseases coupled with a lack of clinical research and understanding can result in a significant drop in quality of life for sufferers. This research into the mental health impact of a diagnosis aims to develop an evidenced-based best practice to better support this large patient group. 

Dr. Tom Kenny said: “There is a distinct need in the rare disease community from the moment of diagnosis. There is often a period of shock, grieving and a complete lack of certainty for the patient and their family.  

“While rare diseases individually affect a small number of people, the total rare disease community is significant and largely underserviced by existing healthcare systems. My aim for this research is to have a positive impact on the quality of life for all those that are affected by a rare disease.”  

The research will involve a group of experts including psychologists and family groups, and will be published in the second half of 2021. 

Emma Thorp, chief growth officer at RBW Consulting, added: “The difficulties that rare disease patients face is an issue incredibly close to my heart, having first-hand experience supporting a parent with a rare disease. The mental health impact is huge for both patients and their loved ones. Mental health and emotional support are often not considered or prioritised during complex treatment pathways so we really hope Tom’s research will help to change this. 

“As a partner to the life sciences industry, we feel it is both a privilege and a responsibility to play a role in supporting the patient population. This is why we are funding this research in full. Dr. Tom Kenny is an impressive, talented and well-informed figure in the rare disease community and we’re looking forward to seeing what he discovers through this life-improving research. We could not be prouder to be working with Rare Disease Research Partners.”