To understand the full scope of a condition, pharma needs to appreciate the full tapestry of the patient experience. The challenge for industry in the realm of rare diseases, however, is to meaningfully engage with patients and convince them that they are an essential part of the research equation

Receiving the news that you have any disease is never exactly positive, but finding out that you – or your child or a loved one – has something you have never heard of can add an extra layer of vertigo.

Of course, when faced with a life-changing condition, there is rarely any consolation, but with widely known and heavily reported conditions, such as cancer, heart disease, HIV, dementia and, increasingly, mental health, there is now a tangible sense of solidarity among patients. Indeed, many campaigns have brilliantly sought to reassure patients that, ‘there are many in your position’. Strength in numbers is a paradigm we all subscribe to.

Providing meaningful and sustainable contact with those patients with a rare – or orphan – disease presents a different set of challenges. Diagnosed individuals – like anyone analysing a new health crisis – will inevitably begin to consider the gamut of imposing themes: mortality, the meaning of life and, in the case of rarer conditions, the meaning of bullous pemphigoid or Walker Warburg Syndrome or acanthocheilonemiasis. Even for those patients born with a rare disease, whose inner strength and determination has come from overcoming hurdles at a young age, the spectre of a rare disease can be all-consuming.

Human behaviour

When people are living with a rare disease, they are left to ponder whether anyone or anything will have the resources, treatment or motivation to help them. It is the complexity of this backdrop, with all its nuanced patterns of human nature, combined with the eternal mysteries of the human condition, that pharma companies must diligently navigate. Even the most sophisticated – and seemingly personal – template, will not do. This has to be personalised communication with an uppercase ‘P’ – a two–way relationship which doesn’t only chime with the algorithms of AI, but the algorithm of real life.

Richard Johnson, Kyowa Kirin’s country general manager, UK and Ireland, knows only too well the myriad obstacles associated with reaching patients in the rare disease vortex. “Often there is no established patient group for a specific rare disease, and because of the low number of patients, the community can be disparate,” he says. “Limited information on the origin of the disease, and associated patient and family burden, can mean little understanding of the patient pathway, making it difficult to establish that initial contact.”

Richard has also discovered that fruitful contact is about changing entrenched trends: “Many people with a rare diseases don’t have a diagnosis, and even when they do, the lack of existing treatments has resulted in a history of not engaging. The key lies in reversing that stalemate.”

Digital divinity

The potential for meaningful patient engagement has taken off exponentially in the last ten years, turbocharged by a consistently high-achieving life sciences sector (including companies specialising in rare diseases) and ignited by digital dynamite.

It has, mercifully, allowed the fog between the manufacturers and consumers of pharmaceuticals to lift, giving way to a much clearer view of both perspectives, helping to demystify pharma and creating compelling alliances. The digital era, and the rise of the ever-curious Patient 2.0, has been pivotal in reducing alienation, promoting unity and advancing treatments.

“Digital communication has resulted in a huge engagement leap in terms of patient communities affected by rare diseases,” reflects Richard. “Groups like Rare Disease UK and Cancer 52 have used a ‘joint forces’ approach to champion patient advocacy in rare disease and this has been a major step forward.”

The digital prism has also cast new light on how we define or digest the word ‘rare’. The EMA’s current definition is a condition that affects fewer than five in 10,000 people. This can be a bit of a red herring, because there are an estimated 7,000 rare diseases, which affect around 3.5 million people in the UK – a pretty significant percentage of the population. By identifying common needs and goals among the subgroups within this number, the patient voice has increased in volume, resonating through historically alienated communities.

Richard adds: “Through publications on policy and rare disease strategy, and utilising online websites and patient forums, social media patient groups have made impressive strides in highlighting the challenges associated with rare diseases, while also making engagement much more accessible.”

The ability to establish networks and cohesion among patients with the same, or similar, rare conditions has also been successfully pioneered on social media, where Facebook groups have proved an effective way for people to receive peer-to-peer support, advice and information. Indeed, the role of the 24-hour digital carousel should not be underestimated when it comes to providing kinship, levity or activism within a certain disease area. One relatable tweet from a fellow patient at 3am can galvanise and revitalise in a way that is unique to the digital medium.

Carry on living

Across the infinite digital landscape even the most mysterious malady has its own organic, constantly shifting ecosystem; branching out, building communities and allowing patients with rare diseases to make connections across the world – links that could mean the difference between giving up and carrying on. For each specific disease there are forums, blogs and educational webinars which have proved a revelation, resulting in more educated patients and, pivotally, better accessibility to specialist healthcare teams.

There has also been a wave of educational opportunities, further enhancing the patient armoury.

Layla Robinson, public affairs manager at Kyowa Kirin, says: “Online patient mentoring, coaching and training courses, provided by, for example, Findacure, Genetic Alliance UK and EURORDIS, cover themes such as expert patients, clinical trial development, regulatory processes, HTA and general advocacy tools. These courses are able to support and empower people, engendering positive change in the process.

“The increased versatility in communications has extended to young people – a group which can be hard for healthcare professionals and others to reach. Exciting new digital and interactive approaches, including elements of game-playing, are being increasingly used to address this gap and support young patient education,” enthuses Layla.

In addition, there has been a rise in the use of sophisticated healthcare apps, as tech companies switch on to the ubiquitous personal health phenomenon. Creative and innovative apps that utilise technology, like wearables, allow remote sensoring – or real-time tracking of vital stats, symptoms and side effects – providing the opportunity for a much more personalised approach to care for a broad range of conditions. Apps and wearable tech will continue to advance at great speed in years to come, providing impetus and hope for rare disease communities.

Knockout combination

The ‘magic bullet’ of patient advocacy and expert experience has undoubtedly made tangible improvements to the wider patient community. Partnerships, knowledge, empowerment and a foundation of candid communications have enabled patients, not only to be reached, but to form part of the ongoing conversation – and to be regarded as experts. The probed have become the probers.

“It’s incredibly rewarding to witness how patient expertise has changed a clinical trial protocol to more accurately meet the needs of a patient population, or how patient expert accounts during HTA appraisals have supported access to a medicine that will truly make a difference to the lives of patients and their loved ones,” reflects Gill Logan, Kyowa Kirin’s medical affairs manager, Metabolic Bone.

This reachability has created a new brand of artillery with which to take on disease, but has also brought about the innate survival instincts of the modern proactive patient – and this is the absolute antithesis of the long-suffering patient caricature. Furthermore, for those who, in previous decades, existed in the pharma bubble, an improved discourse with patients has led to a renewed ambition and a high-res reminder of why they’re in this.

“Meeting patients and carers who devote the majority of their own lives to improving the lives of others and making a difference by advocating for patients who live with a rare disease is very humbling, and extremely motivating,” says Gill.

As boundaries between patients and pharma continue to disappear, Gill believes pharma must continue placing a high premium on the input and expertise of patients, patient advocates and the families of those patients, while integrating them into the research journey at the earliest opportunity. This includes continuous engagement to identify areas of highest unmet need, building solutions together through mutual collaboration and sharing experiences across multi-channel media platforms.

There is still much to achieve when reaching out to rare disease patients but, in spite of the obvious numerical disadvantage, building these relationships in small groups of rare disease patients has proved curiously advantageous. The strength of bonds grow faster, knowledge transfer is accelerated and cohorts for trials can be mobilised quicker.

Ultimately, as long as there are humans, there will be disease – it is a universal truth we all have to reconcile. The eternal struggle of man against illnesses – and all their inexplicable cruelties – is one that, alas, transcends the centuries. Within this conundrum, however, there are missions that can and have been accomplished. There are healthcare professionals, pharma companies and inspirational people and patient groups whose path has led them to solving biological conundrums – however impossibly complicated they might be. Undiminished by a disease’s frequency among patients, their willingness to carry the baton of scientific research or awareness or community building, sends out a clear message to anyone suffering from a rare illness. You are not alone.