Updated: May 12
Events will be taking place across the globe today to help raise awareness of people living with a rare disease.
Each year Rare Disease Day falls on the last day of February and it's particularly poignant this year as it takes place on the rarest date of all, 29th February.
The day is organised by EURORDIS – a non-government membership organisation consisting of over 800 rare disease patient associations in 72 different countries.
Having collectively worked across a number of rare disease initiatives and associated orphan treatments, the challenges faced by patients and their caregivers is increasingly apparent. The unmet need remains huge. And so today, this topic is top of mind for all of us at RubyDuke.
Here, we delve through the current facts and figures on rare disease, the ‘lived experience’ for individuals and their families who experience a rare disease, gaps in knowledge and the priorities for providing support.
The estimated prevalence of people suffering with a rare disease is 3.5–5.9% of the worldwide population – meaning that collectively, rare diseases are not so rare after all. Between 263–446 million people are affected by a rare disease across the world.
However, it’s clear that patients with rare diseases have not benefited from medical innovation to the same extent than those with more prevalent conditions.
A report publishing the results from 570 survey respondents affected by over 100 different rare diseases highlighted common concerns:
· Obtaining a correct diagnosis
· Difficulties accessing information
· Limited support for medical and non-medical requirements
· Access to services
· The transition from paediatric to adult services can be poorly managed
Significant efforts have been made in the last decade to improve outcomes for patients with rare diseases. Within the European Union, regulation to promote the development of orphan drugs has resulted in the development of new cutting-edge technologies. Prior to this – just 8 products were approved for rare diseases. Since, more than 90 have been authorised.
And the pharmaceutical industry has established a number of initiatives. Most impactful in Europe is the Joint Task Force between EFPIA (the European Federation of Pharmaceutical Industries and Associations) and EuropaBio (the European Association for Bioindustries) on Orphan Medicinal Products and Rare Diseases. It’s committed to the development of orphan medicinal products and improving the lives of patients with rare diseases.
Yet bringing orphan drugs to market remains a huge challenge - with few patients (who tend to be geographically scattered), limited clinical expertise and a lack of validated biomarkers. Not to mention reimbursement processes – which can lead to substantial access delays. And today’s health technology assessment criteria are not exactly designed with rare diseases in mind.
But probably the most significant underlying factor exacerbating all this – and perhaps an area where we, in healthcare communications, can help the most - is the extremely low awareness of individual rare diseases. Not just amongst the general public, but clinicians too.
An online survey completed by parents of children with a rare disease stated that websites and online support were considered the most helpful by 83% and 79% of respondents, respectively (Pelentsov et al., 2016). Yet, during interviews with rare disease patients and caregivers, almost all participants discussed the need to share information with other people affected by a rare disease (Litzkendorf et al., 2016). This suggest worrying lack of available, reputable information.
In addition to difficulties in accessing information, a shortage of new information is a challenge. A review of the literature over a ten-year period highlighted that less than 0.2% of all publications listed in PubMed were featured on rare diseases (Walewski et al., 2019).
The need, for patients/caregivers to obtain information and connect with others for practical advice is clear.
Many of these challenges are being addressed by the empowerment of patient support groups. Such groups, often started up by a patient’s family member, have gained invaluable momentum thanks to the power of social media.
And it seems they’re having a huge impact in disease awareness - by lobbying, talking to the media and organising events. On occasion their voices have even been powerful enough to facilitate reimbursement.
The power of support groups is clear – but they shouldn’t have to be act alone. So what can be done to help people and their families living with a rare disease?
A recent survey-based study carried out by researchers at Queen's University Belfast confirmed three key communication priorities, in addition to the support groups that are clearly so important:
· Sources of information (central website)
· Public awareness (public health campaigns)
· Medical care (training for professionals and care plans tailored to the patient)
Crowe et al., 2019
It’s clear there is still much to be done to ensure rare diseases get the recognition they deserve. And as we enter an era with a new generation of targeted therapies – it’s crucial to ensure that nobody is left behind.
Help improve public awareness and show your support by following Rare Disease Day on social media and sharing their posts. To find out more about the the ways you can get involved visit https://www.rarediseaseday.org/article/get-involved
Crowe, A. L., McKnight, A. J. & McAneney H. Communication Needs for Individuals With Rare Diseases Within and Around the Healthcare System of Northern Ireland. Front. Public Health (2019) https://doi.org/10.3389/fpubh.2019.00236
Eurordis. Rare diseases: understanding this public health priority. (2005) Available from: https://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf
Eurordis website https://www.eurordis.org/about-eurordis
Litzkendorf, S., Babac, A., Rosenfeldt, D., Schauer, F., Hartz, T., Lührs, V., Graf von der Schulenburg, J. & Frank, M. Information Needs of People with Rare Diseases-What Information Do Patients and their Relatives Require? Journal of Rare Disorders: Diagnosis & Therapy (2016) Vol.2 No.2:40
Nguengang Wakap, S., Lambert, D. M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., Murphy, D., Le Cam, Y. & Rath, A. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet (2019) doi:10.1038/s41431-019-0508-0
Pelentsov, L.J., Fielder, A.L., Laws, T.A. et al. The supportive care needs of parents with a child with a rare disease: results of an online survey. BMC Fam Pract 17, 88 (2016) doi:10.1186/s12875-016-0488-x
Rare Disease Day website https://www.rarediseaseday.org/
Rare Disease UK (RDUK) Experiences of Rare Diseases: An Insight from Patients and Families. (2010) https://www.raredisease.org.uk/our-work/experiences-of-rare-diseases-an-insight-from-patients-and-families-2010/
Walewski, J. L., Donovan D. & Nori, M. (2019) How many zebras are there, and where are they hiding in medical literature? A literature review of publications on rare diseases. Expert Opinion on Orphan Drugs, 7:11, 513-519, DOI: 10.1080/21678707.2019.1684260