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Living well today: How do we make it happen for the rare diseases community?

The wider needs of people living with rare diseases—beyond medical outcomes and access to treatment and healthcare—are vital. The work of organisations such as Metabolic Support UK, Eurordis’s Social Action Policy Group and The Disability Policy Centre is sparking new conversations and challenging policymakers to create more comprehensive support systems, but we need a multi-stakeholder approach to bring about change, as Michelle Conway explains

By Michelle Conway, freelance health policy consultant and rare disease specialist at CRD Consulting Ltd
Living well today

I am delighted to have been invited by the team at RARE Revolution to continue my contribution to the Industry Insights column in 2024, alongside Sheela Upadhyaya and Nicki Redfern. It is a privilege to have the opportunity to ask questions and spark discussion and debate on topical issues impacting the rare community.

When this column is published, it will be six months since the Thoughts into Action (TIA) launch event in the House of Commons. This is a project that is close to my heart and which I had the great pleasure of leading alongside the team at Metabolic Support UK (MSUK). This project coined the term, “living well with a rare disease” and changed the way I personally am approaching discussions about how we support the rare community to get the best out of life today. Six months on from the publication of the report, I reflect on some of the things MSUK has highlighted that need to change so that the rare community can “live well” today and ponder how we might achieve this.

Living well today

Participants from the inherited metabolic disorder (IMD) community highlighted six important areas that need to be addressed to improve their everyday lives in TIA. More than 30 different IMDs were represented by people taking part in the study, including those still awaiting a formal diagnosis, those with no available treatments for their conditions and those who have access to the latest innovative therapies. 

Despite these differences in their medical experiences, they all expressed commonality in the need to improve their experiences in employment and benefits, food, healthcare, transitions and mental health.

Through my own conversations with those living with a rare or undiagnosed condition recently, it has become very apparent that these aspects of everyday life are not unique to the IMD community and, in fact, are relevant to all people living with a rare disease.

This idea of providing a more holistic approach to how we support people living with rare diseases has been central to the establishment of the Eurordis Social Policy Action Group (SPAG). This group of 20 volunteers from across the rare disease community in Europe will focus on influencing policymakers to take a more holistic approach to their work. It underscores the importance of addressing not only medical needs but also the social, psychological and economic challenges faced by individuals and their families within the rare disease community. By advocating for comprehensive support systems, SPAG aims to improve the overall well-being and quality of life for the community. In creating this group, Eurordis plans to challenge the societal norms that create barriers and challenges, which often exclude people from participating fully in society.

Many of the recommendations in the TIA report were centred around this sort of wider collaboration and engagement within the rare disease community, to advocate for improvements and changes to the experiences people have in their daily lives. It is therefore reassuring to note that Kirsty Hoyle, the CEO of MSUK, is one of the 20 representatives on the SPAG group. This will provide a platform to share the findings of TIA with this key group and will provide an opportunity for the findings to help influence policy for the whole rare disease community and not just the IMD community. A vital step in starting a new conversation considering people beyond their medical needs.

Our current focus

Many of the conversations we have as advocates, policymakers and service providers tend to focus on medical outcomes and improving access to treatment and healthcare resources. Key topics of discussion tend to consider how we improve access to new innovative treatments, how we fund the high-cost innovations that are coming and how we prepare systems to deliver these. A review of the agendas of many of the conferences that dominate our diaries during the year reinforces this.

I do not dispute the importance of these discussions to ensure we continually provide access to the latest innovations for our community. However, we need to start talking more about how we ensure the rare community “live well” today. Even with access to the latest innovations in healthcare, many people told the TIA project that it was still challenging for them to work, socialise and actively participate in society. This requires us to think beyond healthcare needs and question why people are experiencing these difficulties.

Changing the conversation

Within the UK, a person is protected by disability legislation if they have “a physical or mental impairment”, which “has a substantial and long-term effect on” their “ability to carry out normal day-to-day activities”. However, TIA participants highlighted that they did not all identify as disabled, particularly when they had an “invisible” disability. These challenges are often confounded by the complexity of the systems which are designed to provide financial and practical support alongside the social stigma experienced by many when they do try and access support. Celia Hensman, who lives with a rare disease herself, wrote on this topic in Rare Revolution Magazine in 2022. She said: “Disabled people and people with chronic illnesses are not only being limited by their conditions but are also being limited by the often inaccessible and unequal environment in which we live.”

Work such as TIA, SPAG, and organisations such as The Disability Policy Centre are critical in advocating and challenging policymakers to create fairer and more inclusive systems for people with rare and undiagnosed conditions. However, as we have observed over the past decade, the more voices there are focused on something, the more movement we will see from policymakers and governments to bring about meaningful change. This has been true in the creation and implementation of the UK Rare Diseases Framework and Action plans, which have been developed and governed through a multi-stakeholder approach and which are now instrumental in focusing resources and improving healthcare outcomes in rare and undiagnosed conditions in the UK.

We must learn from the power of this multi-stakeholder approach. Each of us who works in and for the rare community, whether that be in advocacy, policymaking, healthcare or industry, has a responsibility to make sure that our conversations focus on the bigger picture and not just the small piece of the jigsaw puzzle that we hold.

About Michelle

Michelle Conway trained as a nurse, before moving from the NHS to the pharmaceutical industry, where she held multiple roles from nurse specialist to regional market access manager. 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 before setting up as a freelance consultant. 

With experience across multiple roles in the biotech and pharmaceutical industries, Michelle has expertise in market access and policy work. Michelle supports projects requiring strategic guidance, expertise and knowledge relating to the policy surrounding improved outcomes in rare diseases and market access for medicines for rare cancers and orphan medicine launch-planning. 

Eurordis’s Social Action Policy Group

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