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Amplifying the voices in rare diseases

There are approximately 300 million people around the world living with a rare disease. Yet, until relatively recently, there was limited focus on this heterogenous population. By their nature, rare diseases are just that – rare – with a wide array of symptoms and severities affecting patients, which makes it challenging for pharma companies to identify opportunities to develop effective new treatments.

Yet the very fact these diseases are unusual and often fly below the radar has created a tight-knit rare disease community, comprising patients, carers, family members, advocates, and healthcare professionals (HCPs) who are invested in the health and treatment of patients living with one of more than 6,000 identified rare diseases.

Very few rare diseases have a cure, which leaves many patients in need of treatment options. These patients offer invaluable insight and experience when it comes to understanding the realities of living with a rare disease. Acknowledging and amplifying these voices is essential for pharma companies looking to enter the market but communicating with such a passionate and informed group can be challenging.

“Rare diseases are notoriously heterogeneous,” says Dr. Emma Lemon, who leads the Medical practice at AXON, a global healthcare communications agency. “You have to have a tailored approach. You can’t go in and approach a medical communications plan for one rare disease in the same way as you would do it for another rare disease.”

No one-size-fits-all approach to rare disease treatment

Due to the lack of information about rare diseases, patients and caregivers often take matters into their own hands when it comes to understanding their conditions and treatment approaches. As a result, patients with rare diseases – and their caregivers – are among the most empowered or informed patient populations and are closely connected to their healthcare teams.

“For some rare diseases, very little is known. There’s a huge educational aspect that needs to happen in terms of raising the profile of those rare diseases, particularly when it comes to improving diagnosis and exploring possible treatment options,” says Lemon.

With limited experience in treating larger patient populations due to the rarity of these diagnoses, HCPs must work closely with each individual patient on their personalised treatment plans.

Working with patient groups and HCPs

Patients, caregivers and family members, and physicians and other HCPs truly act as a team when it comes to managing rare diseases. Parents of patients with rare conditions often lead patient advocacy groups (PAGs) as they have personal experiences and emotional investment in the topics related to diagnosis and treatment.

PAGs can help to inform pharma developments – for example, by providing invaluable insights into rare disease symptoms and the side effects they find acceptable. They also leverage their knowledge and experience to support the design of clinical trials and contribute to real-world data collection.

Given the prominence of PAGs in the rare disease space, it’s important to co-create communications activities with these groups to ensure they will resonate with the specific community they are trying to reach.

HCP input is always a key consideration when developing communications activities, however their contributions may be even more insightful in a rare disease setting, given how engaged they are with patients and their support network.

“The physicians that we work with are very emotionally engaged, not only in the disease area, but also with the patients and their support networks,” Lemon explains.

As such, pharma needs to be sensitive and aware of the emotional investment that HCPs have in their patients’ treatments.

“The way pharma interacts with HCPs who work in rare diseases needs to be looked at carefully because there’ll be many disciplines within the pharma team that will want to interact with that HCP for various different activities,” says Lemon. “You need to have a very buttoned-up plan in how you’re going to interact with those HCPs because due to the specialist nature, there are not many of them, and you don’t want 15 people bombarding them with emails and trying to get information from them or book their time.”

Key considerations for marketing rare disease products

Marketing activities and other types of campaigns need to be developed with an awareness that the target audiences are small and have specific levels of knowledge and engagement of their conditions.

Consequently, sales teams for rare diseases need to have a deep understanding of the specialist –and multi-disciplinary team approaches – that are used within that group.

Access and cost of drugs are also a key issue when it comes to rare disease treatments. As the demand for specific rare disease drugs varies from nation to nation, patients often struggle to access the right treatment for their condition. To ensure that new drugs reach those who need them, creating strategies to address these topics should be part of the overall communications plans from the outset.

“Rare disease treatments often come at a very high cost because you only have a small patient population that’s being treated, and the costs of the research and development still need to be offset” explains Lemon. “Making sure that you’re devising early access programmes, minimising the time between the diagnoses of these rare diseases and treatment, and taking into account any potential funding gaps is key.”

Data can be a valuable tool in the process of developing marketing strategies for rare disease treatments. Real-world data has a vital role to play in understanding rare diseases and developing treatments that effectively meet their needs, as clinical trial data will inherently be limited due to smaller patient populations.

“Payers often want to see the drug value beyond the data,” says Lemon. “Understanding how it impacts patients in the real-world setting is very important for all drugs, but especially in the rare disease space because you have so few patients to gather that data from.”

Changing tides for rare disease research

For millions of patients around the world, living with the effects of rare diseases remains a day-to-day challenge. However, there is a growing awareness of how targeted treatments can be developed in niche indications with significant unmet need, and so the outlook for rare disease treatment looks increasingly positive.

Education and awareness are a key part of this drive for Lemon, with events such as Rare Disease Day spotlighting the need for new treatment options and providing an opportunity to shine a light on the realities of day-to-day life for these patients and their caregivers.

With a better understanding of challenges with diagnosis and management, pharma companies can support education around the signs and symptoms of a condition whilst developing products that effectively target unmet need, with the ultimate goal of enabling patients to better manage their conditions.

“Patients are being diagnosed a lot quicker. That means that their quality of life is likely improved,” says Lemon. “There’s no anxiety from wondering what’s wrong with them. They’re able to better explain to family and friends what’s affecting them and how it needs to be managed.”

About the interviewee


Dr. Emma Lemon holds a BSc in Pharmacology and received her PhD in cardiovascular disease from Imperial College London. She was a research scientist in academia and worked for a start-up biotech company before moving into healthcare communications.

She is head of Medical at AXON and has 17+ years’ experience in the field, across a variety of global and local communication activities. She has in-depth knowledge and experience in the strategic planning, management and implementation of pre-launch and launch campaigns, internal communications programmes, KOL development and educational programmes, events such as advisory board and stand-alone meetings and symposia, publications planning, disease awareness and development of digital aspects of programmes.

Lemon has 11+ years’ experience of working in rare diseases, focussing predominantly on rare lysosomal storage disorders in that time, including MPS II, Fabry disease and Gaucher disease.

About AXON

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AXON is a global healthcare communications agency that ignites change in healthcare. Through the power of life-changing communications, we contribute to medical advances that improve lives. At the core of every scientific innovation and advancement, there is a simple and compelling story to be told. We know how to tell that story, how to use the right tools to reach the right audiences at the right time, to provoke meaningful change.

The company specialises in advising clients on medical affairs, clinical studies, real-world evidence, marketing, advocacy, and communications, all underpinned by insights and creative strategy. AXON has an international reach, with offices in Copenhagen, London, New York, and Toronto, and a worldwide affiliate network.

Established in 2002, AXON has a deep heritage and expertise in healthcare strategy and communication and continues to learn and grow in the fast-changing healthcare sphere. AXON is proudly an AVENIR GLOBAL company.

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