As HealthScience professionals, we spend a lot of time thinking about data. How many patients are there worldwide? How many days do these patients spend in hospital per year? How much more effective is drug X than drug Y? On Rare Disease Day, there are a lot of numbers to think about too. According to the EU definition, each individual rare disease affects fewer than 1 in 2000 people.1 But together, they are a common issue, with over 6000 different rare diseases affecting up to 300 million people worldwide.2,3
However, a patient is so much more than just a number. For Rare Disease Day this year, we reflect on what HealthScience can do to benefit the patients and families affected.
Raising awareness
One key difficulty common to many rare diseases is recognition. Healthcare professionals (HCPs) may only see a few cases in their careers, if any. Symptoms of rare conditions typically overlap with those of other disorders and, when seeing these, HCPs may not immediately think ‘rare’. As a result, a person with a rare disease will wait for an average of 5 years before receiving their diagnosis.4 This represents an immense burden on the patient and their family, who face a challenging and uncertain healthcare journey involving multiple tests, treatments and interactions with HCPs.
Often, we and our clients address this under-recognition by raising awareness. We consider many factors when developing a successful rare disease awareness campaign. Who will the patients see before they are diagnosed? How can we reach them? What messaging will resonate? How can we equip them to recognize the disease? What treatments are available?
The answers to these questions, and more, inform a tailored awareness initiative. The common goal being to raise awareness in the right groups, at the right time, with communication hooks that will stick in people’s minds.
Baby Kai’s story:a
Awareness campaigns can have real and meaningful impacts on patients’ lives. Baby Kai was a newborn with a severe, ultra-rare disease that can lead to lifelong disability or even death if not diagnosed and treated quickly. Luckily, one of his doctors had seen an awareness talk on this disease. Upon seeing Kai’s symptoms, the doctor remembered the talk and alarm bells rang! The doctor immediately ordered diagnostic tests, and Kai was treated quickly and appropriately, averting the escalation of problems, which most likely saved his life.
Facilitating connections
Because few patients are affected by each individual rare disease, the specialists for these diseases also tend to be few and far between. Identifying these ‘rare’ experts can be challenging for other HCPs as well as for patients and their families. By enabling international experts to share their expertise through presentations and publications, knowledge can be shared across the globe, allowing HCPs to connect with each other and for patients to connect with the right HCP.
Providing patient-accessible information
There is often very little information available online for rare diseases. Although patient information websites and leaflets are widely available for many common disorders, scientific literature may be the only source of relevant information for many people with rare diseases and their families. Scientific papers about rare diseases should be written with this in mind, and should be easy to read, easy to understand and easy to access (i.e. with a clear plain language summary and not hidden behind a paywall). Oxford PharmaGenesis is committed to championing Open Access and to providing plain language communications, for the wider scientific community and for patients worldwide.
Diego, Maria and Lola’s story:a
When Diego and Maria had their first child, Lola, she was diagnosed with a rare syndrome. Without information tailored towards patients and families, they felt left in the dark. They spent countless evenings reading about medical genetics to gain enough background to read and understand the jargon-filled scientific papers about her syndrome. Diego and Maria are passionate about ensuring that other families do not experience the same struggles, and urge people involved in publishing to think about all potential audiences.
Looking to the future
There are exciting developments ahead for the rare disease community. As we move into the artificial intelligence (AI) age, we are beginning to see advancements that could revolutionize rare disease management. The use of AI to improve diagnosis of rare diseases has already been demonstrated in medical research and even in the clinic, using information such as electronic health records, imagery and genomic data. Novel treatments, such as gene therapy, and precision medicine approaches that connect the right patient with the right medicine offer to transform patient care.
These advancements will come with some changes in how and what we communicate about rare diseases, but communication and education will remain important factors. At Oxford PharmaGenesis, we are looking forward to being a part of this future and the promise it holds for patients everywhere.
For more information, visit our website here: https://www.pharmagenesis.com/what-we-do/rare-diseases or contact Harriet.crofts@pharmagenesis.com
Written by Claire Beeby.
Footnotes and references
aWith rare diseases, we must be particularly careful about anonymity. There may be such small numbers of patients that seemingly minor details may be identifying information. Here, names have been changed, and disease information has been removed.
1. European Union Regulation (EC) No 141/2000. 1999; 2. Haendel M et al. Nat Rav Drug Discov 2020;19:77–8; 3. Nguengang Wakap S et al. Eur J Hum Genet 2020;28:165–73; 4. Faye F et al. Eur J Hum Genet 2024;32:1116–26.
