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Living well with a rare disease: are we really supporting our community to achieve this?

Traditional tools for measuring quality of life (QoL) focus narrowly on health outcomes. Michelle Conway discusses whether our current approach to improving the lives of those living with rare diseases requires us to think beyond the current rare disease policies to develop a whole-of-government approach. Michelle also looks at how some organisations are already approaching this

By Michelle Conway, CRD consulting
quality of life

When we think of quality of life (QoL) in rare diseases, our focus is often on the impact these diseases have on a person’s health. It is true that the diagnosis of many rare diseases can come with a prognosis that fills families with fear for the future. However, whilst healthcare is clearly a crucial factor in the daily lives of the rare disease community, it is not the only one!

People living with rare diseases are brothers, sisters, mums, dads and grandparents, who work, have friends and enjoy hobbies. Their needs are wide-ranging and cannot be addressed by their healthcare provision alone. The World Health Organization (WHO) defines QoL “as an individual’s perception of their position in life in the context of the culture and value systems in which they live and in relation to their goals, expectations, standards and concerns” (WHO, 2023).

Traditional approaches to measuring QoL tend to focus through a lens of health, measuring health-related quality of life (HRQoL) or changes to mental and physical health over time. The use of HRQoL measurements, such as the generic EQ-5D tool, provides a way of measuring patient-reported outcomes to a health intervention within clinical trial settings, routine outcome measurements, population health surveys and observational studies (EuroQol, 2023). However, generic measurement tools like these have been challenged as a suitable tool to capture QoL in rare diseases, particularly in the assessment of new treatments and interventions. 

New tools for assessing QoL

One patient organisation has led the way in the development of a new tool, designed to capture more accurately the improvement a treatment can make for people living with Duchenne muscular dystrophy (Duchenne UK, 2023).

This and other similar developments are undoubtedly important and will be watched with great interest by many within the rare disease community, to understand their impact on access to new medicines. However, given that only 5% of rare diseases have a licensed disease-modifying treatment, perhaps we need to start thinking about QoL beyond the healthcare sphere. The WHO developed a QoL assessment aimed at capturing the impact of a condition beyond more traditional morbidity and mortality measures, including factors more aligned to a person’s daily lived experience (WHO, 1998).

This type of holistic approach to understanding QoL in the rare disease community, has been at the centre of a recent research project by Metabolic Support UK (MSUK).Thoughts into Actionis a project that has been designed specifically to understand the factors that are important to the inherited metabolic disorder (IMD) community in their everyday quality of life. I have had the privilege to lead on this project and gain insights into some of the factors that can help people to “live well with an IMD”. This work has the potential to open cross-sector dialogue on rare disease policy. It has highlighted the needs of people as individuals beyond their diagnosis—people who need access to services and support that is not readily accessible to them or that they are unaware of. It speaks to a community whose needs cannot and should not be viewed through a narrow healthcare lens.

Let’s expand our vision

We must start to consider how we can see the rare disease community through a wider lens. How do we support them to continue to go to school or work, and to socialise and live well? An example of an organisation that is leading the way in this holistic approach to improving everyday QoL is theRare Care Centrein Western Australia. This service, led by Dr Gareth Baynam and Sue Baker, has created a cross-sector care co-ordination service for children and adolescents with rare and undiagnosed complex conditions, and recognises the need to have a multi-sector approach to improving QoL.

TheUK Rare Disease Frameworkhas acknowledged that the needs of the rare disease community must be “recognised in wider policy development”. However, the four priority areas in focus for the delivery of the framework are all related to improving health outcomes, with very little clear guidance on how their needs will be met through wider policy. Perhaps if we want to see people “living well” with a rare disease, we must consider how efforts can be combined with organisations beyond the rare disease space. If we consider the commonalities that intersect our community with people living with long-term chronic health conditions or disabilities and with people requiring mental health support, we see that there are many similarities. These similarities may provide opportunities to collaborate with organisations who are already advocating for improvements in areas that affect the everyday lives of our community. In the current financial climate, where money for new policies and programmes is impossible, wider engagement on areas where our communities’ needs intersect could provide opportunities to access existing funding and make meaningful change. 

Within the UK Rare Disease Framework, the government has committed to collaborate on a national and international scale to ensure it delivers improved outcomes for the rare disease community. This collaboration needs to exist both internally across government departments as well as with external organisations. If we want to look beyond the narrow healthcare lens used in rare disease policy and see the bigger picture, both governments and advocacy organisations should take note of the collaborative approaches employed by MSUK and the Rare Care Centre and ensure that “living well” with a rare disease is the end goal. 

Meeting the “goals, expectations, standards and concerns” of the rare disease community will not be achieved unless all organisations take a collaborative approach to influencing policy.

Editor’s note: The Rare Care Centre and the Thoughts into Action project will both be featured in separate articles in the coming months, to give more details about their work.

About Michelle

Michelle Conway trained as a nurse, before moving from the NHS to the pharmaceutical industry, where she took up a role as a nurse specialist. Michelle discovered a passion for rare disease when working with a biotech organisation to launch a product for an ultra-rare disease. She then supported the company with the launch of several ultra-orphan medicines. 

With experience across multiple roles in the biotech and pharmaceutical industries, Michelle has expertise in market access and policy work. Michelle supports projects requiring expertise and knowledge about the challenges of access and policy for medicines for rare cancers and orphan medicine launch-planning.


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