The orphanisation project blog

See all our blog posts for the Wellcome Trust funded 'Orphan drugs: high prices, access to medicines and the transformation of biopharmaceutical innovation' project here:

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Focus on patients’ stories

Eva Hilberg, PhD
Tineke Kleinhout-Vliek, PhD

It looks as though stories are everywhere nowadays. Within qualitative research, there is an increased recognition of the relative power of stories, because we relate to people experiencing things in a different way than we relate to numbers. Stories have a strong affective dimension: you ‘experience’ a story with the person telling it, engaging your emotions as well as your brain. We are also far more likely to remember data in the form of a story. To make sense of our lives, we all engage in story-telling, whether on Instagram or down the pub: about ourselves, our experiences, the people we meet and the things we do. These are, of course, not entirely fictional accounts, but a conscious selection of all the many and muddled ‘data points’ of life, often with a narrative arc with a clear beginning and an end, and more often than not organized around a problem that is overcome somewhere along the way.

Patients are no different in this, as Arthur Frank so memorably pointed out in the seminal Wounded Storyteller (2nd ed., 2013). Nowadays many patients blog, vlog or even write books to share their diagnostic and treatment journeys with others. They may also get invited to tell their stories at conferences hosted by pharmaceutical companies, or to contribute ‘lived experience’ to deliberations on a reimbursement decision on a medicine targeting their illness. From the very first encounter, usually when they first go to their general practitioner, they begin to share their story in a great number of places (Van de Bovenkamp et al., 2020). This is especially the case for rare disease patients, as theirs is often a long road to diagnosis, followed by difficulties in accessing treatment. Along the way, a great many stories then become public property, evoking a strong response from society. One example is baby Jayme, a Spinal Muscular Atrophy patient who, through crowdfunding, got access to treatment with Zolgensma in Hungary, nearly 1,500 km from his home in Rijswijk, the Netherlands (RTL nieuws, 2020).

The increasing focus on patient engagement and involvement also comes from the policy side, with a steadily growing interest in qualitative data. Patients’ experiential expertise and knowledge are now arguably more valued than they used to be. At the same time, policy makers and regulators are not well-equipped to deal with these more heterogeneous types of information. It is difficult to weigh a patient’s lived experience and personal responses against an incremental cost-effectiveness ratio, which seeks to capture the lived experience of many patients, yet at the same time reduces these to numbers (Mills & Hilberg, 2019) – especially when faced with that particular patient in the decision-making setting (Kleinhout-Vliek et al., 2021). 

With so much official emphasis on qualitative experiential data, it is worth bearing in mind that sociology tells us that the setting shapes the input (see for instance overview in Petrakaki et al 2018). Stories are highly contextual, as where you are and whom you meet influences the story you tell, and the result will be interpreted in different ways by each audience. These acts of adjustment and reception occur both on a conscious and subconscious level, all of the time, throughout our lives. This does not mean that the content is less ‘true’ as a result, it only seeks to point out the interpersonal dynamics that go into the representation of individual experience, which can be due to the creation of different expectations, such as for instance those in a diagnostic encounter compared to an official ‘conference’ setting labelled ‘patient experience’, or a contribution to a board deciding on market access to medicines. The question is, how are patients’ stories shaped by their setting? What considerations affect this process, which stories are apparently ‘allowed’ and which not, how are these stories valued (in research and in policy), and what effect may this have on decision-making? In an interdisciplinary strand of research developed in collaboration with Erasmus University Rotterdam, we seek to better understand these matters through observations and key interviews. This matters as it helps us to better conceptualise how social pharmaceutical innovation initiatives are influenced by and shared across a relatively wide variety of settings.


Frank, A.W. (2013). The Wounded Storyteller : Body, Illness, and Ethics. Second ed. Chicago, Illinois ; London.

Kleinhout-Vliek, T., De Bont, A., & Boer, B. (2021). Necessity under construction–societal weighing rationality in the appraisal of health care technologies. Health Economics, Policy and Law, 16(4), 457-472.

Mills, C. and Hilberg, E. (2019), ‘Built for expansion’: the ‘social life’ of the WHO's mental health GAP Intervention Guide. Sociol Health Illn, 41: 162-175.

Petrakaki, D., E. Hilberg & J. Waring (2018), ‘Between empowerment and self-discipline: Governing patients' conduct through technological self-care’, in: Social Science and Medicine, Vol. 213, September 2018, pp. 146-153. DOI:

van de Bovenkamp, H. M., Platenkamp, C., & Bal, R. (2020). Understanding patient experiences: The powerful source of written patient stories. Health Expectations: an international journal of public participation in health care and health policy, 23(3), 717.

RTL nieuws (2020). Hoe is het met baby Jayme? 'We hoeven geen afscheid te nemen'. Accessed on 16 June 2022 via

Patient access of orphan drugs in the UK - patient perspectives

Jin Ding, PhD

What are Orphan Medical Products (OMPs)?

Orphan medical products (OMPs) are used for the diagnosis, prevention or treatment of rare disease, which is defined as a condition affecting fewer than 5 in 10,000 people. Rare diseases can have a severe impact on the quality of life for patients. To date, over 7000 rare diseases have been identified globally, but most of these are without effective treatment. The main factor in this treatment gap for rare diseases is the limited profitability of niche treatments, making it very difficult for  pharmaceutical companies to recoup the high costs of drug research and development (R&D) for such small markets.

To better address the unmet medical needs of rare disease patients, regulations have been passed in a number of countries to incentivize the development of OMPs. The US was the first country to pass a dedicated Orphan Drug Act (ODA) in 1983. The  EU introduced legislation in 2000, and in 2000 the UK outlined the rules on the application and incentives of OMPs. From 2021, the UK will take over its own national responsibility for products previously governed by EU legislation. Major incentives for stimulating OMPs development include: 7-year market exclusivity, tax credit, fee waiver, research grant and regulatory assistance. On the face of it, these incentives have been a success, as the number of approved orphan drugs has increased since their implementations. To qualify for the incentives, sponsors must submit an application for orphan drug designation to the regulatory agency, for example, the Medicines and Healthcare products Regulatory Agency (MHRA) in the UK. 

In the UK, in order to qualify in terms of the criteria of orphan designation for a rare condition, a medical product must meet the following criteria:

  • It must be intended for the treatment, prevention or diagnosis of a disease that is life-threatening or chronically debilitating
  • The prevalence of the condition in Great Britain must not be more than 5 in 10,000, or it must be unlikely that marketing of the medicine would generate sufficient returns to justify the investment needed for its development
  • No satisfactory method of diagnosis, prevention or treatment of the condition concerned exists in Great Britain, or, if such a method exists, the medicine must be of significant benefit to those affected by the condition

But it is important to note that not all products used for the diagnosis, prevention, or treatment of rare diseases are OMPs, only medical products authorised by regulatory agencies with an orphan designation can be categorised as OMPs. All orphan registered products and expired orphan registered products are published on the MHRA website.

Our project

How orphan drug R&D operates in actual practice is far from straightforward. According to our ongoing research as part of a wider analysis of the orphanisation, since the enactment of orphan drug legislation in the EU in 2000 till 2020 (before Brexit), the number of approved OMPs in the EU was only a small fraction of the number of approved OMPs in the US. The gap between the EU and US has been growing since 2010. Once these OMPs have been centrally authorised in the EU, they are assessed on pricing and reimbursement at an individual  EU member state (national) level before the drug is made available to patients. The actual accessibility of OMPs varies significantly among EU member states, and in the UK,  not all EU-authorized OMPs are in fact recommended by the national health technology assessment agency NICE(The National Institute for Health and Care Excellence). There is also a considerable time delay (27.6 months) between EU authorization and NICE reimbursement decision (see Figure 1). 

figure 1

Figure 1. Comparison of access to OMPs - (from Zomora et al., 2019)

Previous studies about orphan drug accessibility have focused on market access and reimbursement, but they have not taken the perspective of patients into account. Our current project emphasises patients’ involvement as active and equal participants in this process, seeking to provide an alternative to traditional research approaches in the areas of health economics, health policy, and social sciences.

To recognize the experience, needs, and preferences of rare disease patients without treatments, this participatory research project seeks to answer the following questions:  

  • Identifying problems: What’s the position of UK orphan drug accessibility among the US and major EU countries?
  • Assessing impact: What are the implications of inaccessibility for rare diseases patients? 
  • Informing policy: What are the roadblocks that need to be addressed to improve patient access?

Funding and Acknowledgements

This study is commissioned and funded by Research England.

The first step of this project is to identify the real-life accessibility of orphan drugs, contrasting inaccessibility in one geographical context with those that are available in other countries. Our findings will later be supplemented by further research in order to investigate the impact of the lack of treatments on patients’ lives. This project is a first step towards this larger analysis, starting with an online survey that will be sent to the UK rare disease patients/patient organisations in October 2022. 

We are very keen  to work closely with rare disease patient organisations, and look forward to developing long-term collaborative community partnership with UK rare disease patients/patient organisations. If you are interested in this project, would like to take part, or have any questions, please contact us at:

Our team

 Dr. Jin Ding 

Principal Investigator

Dr. Matthew Hanchard Co-Investigator

Dr. Eva Hilberg 


Prof. Paul Martin 


Charoula Veneti 

Research Assistant

Dr Jin Ding

Matthew Hanchard

Dr Eva Hilberg



Zamora, B., Maignen, F., O’Neill, P. Mestre-Ferrandiz, J., and Garau, M. (2019) 'Comparing access to orphan medicinal products in Europe'. Orphanet Journal of Rare Diseases. 14(95), pp. 2-12.

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