Why we need research into the mental health impact of a rare disease diagnosis

Rare diseases impact between 3.5%-5.9% of the world’s population. For Rare Disease Day, RBW Consulting’s Emma Thorp discusses why the consultancy is taking revenue earned from its rare disease clients and using it to fund research into the mental health impact of a rare disease diagnosis.

Rare diseases are often chronic and life-threatening, and with a large percentage of cases presenting in young children, a diagnosis has a profound and unique impact on everyone affected. Despite this, there is no cure for the majority of rare diseases, and many go undiagnosed.

The cause of a rare disease can be varied, while most (72%) rare diseases are genetic, others can be the result of allergies or environmental concerns. Relatively common symptoms can hide underlying rare diseases, leading to a misdiagnosis or delayed treatment. Frequently disabling, a person’s quality of life is often affected by a loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

Additionally, the need for appropriate quality healthcare engenders inequalities, and can increase the social and financial burden on patients. Because of this, patients and families across the rare disease spectrum share a common struggle when living with a rare disease.

The moment a rare disease diagnosis connects patients

The people affected by rare and complex diseases are a small, often forgotten group. However, things change for them irrevocably when they are diagnosed with a rare disease. This moment stays with those affected for the rest of their lives. But it can go two ways.

When this moment is handled poorly, it harms individuals and their families. Without proper support during the diagnosis stage, families struggle, relationships break down, engagement with treatments wane and broader contributions to society suffer.

“The pressure that a rare disease diagnosis places on patients and families is immeasurable – both mentally and physically, but the framework to cope with this strain isn’t out there.”

This is something close to my heart as my mother was diagnosed with Primary CNS lymphoma, a rare cancer that starts in the central nervous system. The moment of diagnosis is something I’ll never forget and came after a lengthy battle with hospital admissions, tests and several incorrect diagnoses.

Like many other families, the burden to fight for diagnosis is often left to patients and their families. Once we had a diagnosis, the focus was on my mother’s physical health, and rightly so. Mental health and emotional support weren’t prioritised during the complex treatment plans, despite the mental toll it took on us all.

Stories like mine aren’t uncommon. While each rare disease affects less than one in 2000 people, the total number of people living with a rare disease is 3.5%-5.9% of the world’s population.

Issues like this, and experiences like mine, are why RBW is funding a partnership with Rare Disease Research Partners. The research will provide much needed insight into how a rare disease diagnosis can affect the mental health of the patient, their family and carers.

What does the research hope to achieve?

When this key moment of a rare disease diagnosis is handled well, the positive impact can be large and far-reaching, and give patients and families the support they need to manage this situation.

The research will be conducted by Dr Tom Kenny, CEO of Rare Disease Research Partners. Rare Disease Research Partners support research and access to treatment for people living with rare diseases. They use their understanding of the unique challenges faced by rare disease patients and their families to design effective research programmes.

Dr Kenny says: “My goal for this research is to draw together the existing evidence in a way that can be used by healthcare professionals to support patients, their families and caregivers at this critical moment. To best serve the families affected by rare diseases, we must first support healthcare professionals by giving them a clear, concise, consolidated collection of the current evidence and best practice. I also hope that wherever this is not possible, we can bring clarity to the research that could be done to fill in these gaps in knowledge.”

What’s next? 

The research began in January 2021 with a literature review. In March 2021, Rare Disease Research Partners will appoint an advisory group of experts including psychologists and family groups, informed by the literature review. By winter 2021, the findings will be published alongside a set of industry guidelines.

The pressure that a rare disease diagnosis places on patients and families is immeasurable both mentally and physically, but the framework to cope with this strain isn’t out there. By funding this research, we hope to provide much needed insight into how a rare disease diagnosis can affect the mental health of a patient and their family.

This will be the start of a long conversation in creating a mental health framework for the diagnosis of rare diseases.

About the author

EmmaEmma Thorp has over 15 years’ experience working with life science leaders on their executive search and selection needs. She likes to take a holistic view of a business’ priorities and identify the optimum people to deliver on them. As RBW’s Chief Growth Officer, Emma’s goal is to expand and lead the executive consultancy services and ensure quality of delivery across all teams.