How understanding the rare disease patient’s lived experience creates better health communications

There are around 300 million people living with rare diseases around the world and there are more than 7,000 different rare diseases, according to the National Institutes of Health (NIH). For some of these people, their families and carers, the journey to identifying their individual diagnosis can be a very long and emotional road.

The route to diagnosis
Often described as the ‘diagnostic odyssey’, the route to correct diagnosis can be complex and drawn out. It can and does consume lives. It’s not uncommon for the patients themselves (or their families) to become the experts due to the rarity of some diseases, where so little is understood. In many cases, initial diagnosis can be incorrect, meaning many tests and treatments weren’t needed and vital time has been lost. Research has found that the average rare disease patient consults five doctors and waits four years before receiving a final diagnosis. All of which means that when diagnosis finally happens, the patient and perhaps the clinician too, is desperate for answers to their questions. This is where healthcare communication has the potential to make a much-needed positive impact – just as long as it’s rooted in fully understanding the lives affected and connects with the patients, their healthcare professionals (HCPs) and those that care about them.

Understanding the lived experience – a real life example
Successful healthcare communication within rare diseases depends on forming a deep understanding of the interwoven HCP and patient pathways. This applies to the emotional side of how patients and their families might be feeling, to the rational ‘what happens next’ in terms of medication and prognosis, which itself is often not good. This journey formed the basis of a film, ‘Noah’s `Story’, made by Bedrock Healthcare Communications to mark Rare Disease Day 2022. The film highlights the fact that one in 20 people will be affected by a rare disease at some point in their life and 75% of rare diseases affect children. Children like Noah Van Houtan, and his sister Laine – who both had CLN2 Batten Disease.

With the co-operation of the VanHoutan family, the film describes their journey with CLN2 Batten Disease. It’s a powerful and inspiring story of how one family searched for answers. Although sadly time had run out for both Noah at age 11 and his sister Laine at 12, the emotional and clinical experiences inform the interventions for patients, carers and HCPs.

Noah’s Story is still available to watch on the Bedrock website. At just four minutes long, it gives an insight into their lived experience. Watch it here.

Principles of rare disease healthcare comms
Whatever the form rare disease healthcare communication takes, we believe certain principles apply.

• We must understand the emotional and clinical journey of the patient and key-influencers pre-diagnosis and beyond, along with their motivations. This means talking to patients, their families and carers and mapping this out. In many instances, the information just isn’t out there
• We identify the touchpoints where the two paths – patient and HCP – meet. When does this happen and where? Online or in-person and what communication would help this process? This could be as simple as a Q&A or FAQ info sheet
• It must identify key strategic points of leverage, the unmet needs, which then inform interventions for patients, carers and HCPs, tailored to their needs
• We believe in the principle of co-creation – that communication intended for patients works best when it’s designed with them. There’s nothing more valuable than their involvement. For patients designed by patients
• It should incorporate moments of meaningful impact, to deliver the right communication at the right time and in the right context to the patient and HCP
• The language needs to be simple, and visuals help.

By applying these principles we can create compelling communications with those we are trying to reach and ensure care of those affected by rare disease remains a priority.

Emily Wigginton is Head of Client Services at Bedrock Healthcare Communications

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