Rare diseases: Why visibility matters
Rare diseases, defined in the UK and Europe as conditions affecting fewer than 1 in 2,000 people, may be individually uncommon, but collectively they impact over 300 million people worldwide.1-3 Despite this, they remain significantly underrepresented in healthcare systems, research funding, and public awareness is limited.
For those living with a rare disease, the journey to diagnosis is often long and uncertain. Studies show it can take an average of 4–5 years to receive an accurate diagnosis, with patients frequently misdiagnosed or dismissed due to limited clinical knowledge and overlapping symptoms with more common conditions.3-5 This delay can have profound consequences, not only medically, but emotionally and financially. Personally speaking, my journey to diagnosis took just over 3 years and a lot of trips to the hospital before an endocrinologist who happened to know my mum, a local paramedic, spotted me in A&E and reviewed my case. Ultimately, it was luck that resulted in my diagnosis, but many others are not as fortunate.
Sadly, the struggle doesn’t end at receiving a diagnosis. Over 90% of rare diseases have no approved treatment, leaving patients and families navigating complex care pathways with limited support.6,7 In many cases, the burden falls on advocacy groups and communities to push for research, access and recognition.
Healthcare inequities further compound the issue. Patients from underserved populations often face additional barriers, including limited access to genetic testing, quality and consistency of support, as well as financial constraints affecting disease management. These disparities highlight the urgent need for more inclusive and equitable approaches to care.
While policy progress is being made – such as the World Health Assembly’s recent resolution recognising rare diseases as a global health priority – there is still much to be done. Awareness, education and collaboration are key to driving change.8
This is where communication can make a meaningful impact. By sharing clear, accurate and empathetic information, we can help shorten diagnostic journeys, support clinical trial engagement and empower patients to advocate for their needs. Thoughtful communication also ensures that the lived experiences of those affected by rare diseases are not only heard, but understood.
I am proud to be a part of a team that embodies this to its core. We understand and care about the rare disease community, and strive to support patients, healthcare professionals and pharma and biotech companies in this field. Individually, these diseases may be rare, but the population living with rare disease is not. Their stories matter and so does the way we tell them.
References
- Department of Health and Social Care. Rare Diseases: UK Framework. GOV.UK; 2021. Available from: https://www.gov.uk/government/collections/rare-diseases-uk-framework
- European Commission. Rare diseases – Public Health. European Commission; 2024. Available from: https://health.ec.europa.eu/rare-diseases-and-european-reference-networks/rare-diseases_en
- Marwaha S, Knowles JW, Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022; 14: 23.
- Global Commission on Rare Disease. From idea to action: Accelerating rare disease diagnosis. Available from: https://globalrarediseasecommission.com/wp-content/uploads/2025/02/Global-Commission-2024-End-of-Year-Report.pdf
- Yan X, He S, Dong D. Determining how far an adult rare disease patient needs to travel for a definitive diagnosis: a cross-sectional examination of the 2018 national rare disease survey in China. Int J Environ Res Public Health. 2020; 17: 1757.
- Kaufmann P, Pariser AR, Austin C. From scientific discovery to treatments for rare diseases – the view from the National Center for Advancing Translational Sciences – Office of Rare Diseases Research. Orphanet Journal of Rare Diseases. 2018; 13: 196.
- Rare-X. 2022. The power of being counted report. Available at: https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf.
- World Health Organization. Seventy‑eighth World Health Assembly – Daily update: 24 May 2025. WHO; 2025. Available from: https://www.who.int/news/item/24-05-2025-seventy-eighth-world-health-assembly—daily-update–24-may-2025.
