A disease is considered rare when it affects fewer than 1 in 2,000 people. However, more than 6,000 rare diseases have been identified, and collectively they affect approximately 300 million people worldwide. This corresponds to approximately 5% of the global population. Around 70% of rare diseases start in childhood.1

With so few people affected by each disease, rare diseases are often overlooked, and many patients are only diagnosed after years of suffering. There is an urgent need for increased awareness, research, and treatment options to alleviate the difficulties faced by those suffering from rare diseases.

We spoke with nspm’s Senior Director and Board Member, Karen Holmes, to gain insights into the particular challenges and considerations associated with communicating about rare diseases. Karen has worked in medical communications for more than 18 years, primarily in the field of rare diseases. Here, she sheds light on the vital role of medical communications, and the collaborative efforts essential for effectively raising awareness in this significant medical area.

What particular challenges are associated with rare diseases?

When it comes to rare diseases, awareness and understanding are typically very low, not only among the medical community but also in the general public. With limited resources and support groups, patients living with rare diseases can feel isolated. Many general practitioners and primary care physicians will never encounter a patient with a particular rare disease, and interdisciplinary care is essential.

Rare diseases may have relatively common symptoms, which can lead to challenges in detection and diagnosis. There is a limited amount of scientific and clinical data, and clinical studies tend to be small. This necessitates a collaborative, international approach to data collection to increase disease understanding.

How do these challenges impact medical communications in rare diseases?

Since general knowledge on rare diseases is limited, one of the key areas where medical communications plays a role is in increasing disease awareness. Clear, easy-to-understand information on disease symptoms is crucial, together with advice on what to do in case someone suspects that they may be affected by a particular rare disease.

It is important for medical communicators to be empathetic and not to instill fear in potential patients – while at the same time not offering false hope or making false promises. Obviously, all information needs to be factually correct and relevant for the reader.

Our communications need to reach the right audience with the right information. To do that we need to identify who the audience is, where they are, and what they need to know. The best way to do this is to listen to patients and involve them in the preparation of communications.

Clinical data in rare diseases is often limited and therefore real-world data and expert opinion become increasingly important. Communicating a drug’s mode of action to healthcare professionals who may not be familiar with the disease requires a different approach compared with well-known therapeutic areas.

How does nspm adopt a patient-centric approach when communicating about rare diseases?

To ensure a holistic patient-focused approach, we involve the extended multidisciplinary team in communications and education efforts – with educational meetings for example. Our experience in developing material specifically for patients has shown that taking the time to understand the patient perspective and including direct patient experience in the development of medical communication pieces helps engage other patients. Working with patients in the clinical setting offers significant insights that can aid in developing valuable communication materials.

How does nspm tailor communications to diverse audiences, including healthcare professionals, patients and the general public?

We are clear on the target audience from the very start – not only are we talking to healthcare professionals, patients or family members, but we also need to be mindful of the varying levels of expertise and knowledge within the medical community. The experience of a healthcare professional within a particular therapeutic area may vary significantly from a community physician dealing with many different ailments.

Adapting the format, not only the content, to suit the audience can also improve engagement. For example, including impactful visuals and using plain language can help to make complex topics easier to understand for patients and carers. Choosing communication platforms that are appropriate and easily accessible for the audience, whether that’s online or in physical format, or a combination thereof, increases engagement.

What do you see as the future trends or developments in communicating about rare diseases?

Communications are evolving.

A very welcome development in medical communications – especially in the rare disease community – is the increasingly central role of the patient. Not only as a reader, but also during the development of materials. No one knows better than the patients themselves what is important for them.

Digital platforms and social media are already very important in raising awareness and connecting people with rare diseases. Online communities and patient advocacy groups can readily leverage digital media to share information and support and empower other patients to share their experiences.

Digital communications are also facilitating “omnichannel” communication – allowing communications to be personalised to the individual, both in terms of content, format and communication channel, yet ensuring consistent communication to all stakeholders. This process is likely to be accelerated with the use of artificial intelligence (AI) or machine learning (ML) technologies.

How can the medical communications industry continue to improve its efforts in this area?

We should continue to increase the volume and reach of the patient’s voice in communicating about rare diseases. We have come a long way in this respect, but there is still a lot more we can do.

Keeping abreast of innovative solutions to raise awareness, to personalise and humanise the communication will help medical communicators engage the rare disease community and generate empathy and understanding.

Ultimately, our aim as medical writers in developing and disseminating communications is to foster the development of an informed community of medical professionals and patients to optimise the diagnosis and care of individuals with rare diseases.

 

References

  1. What is a rare disease? – EURORDIS

Image courtesy of rarediseaseday.org