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Thoughts into Action: What is quality of life as defined by people living with inherited metabolic disorders?

Written by the Metabolic Support UK team

A background to Metabolic Support UK and inherited metabolic disorders (IMDs)

Metabolic Support UK (MSUK) are a charity that have supported people living with inherited metabolic disorders (IMDs) since 1981. IMDs are a large class of over 500 rare disorders that result from an enzyme or hormone deficiency affecting the metabolic pathway. Across the UK, at least 600 babies are born with an IMD each year and around 20,000 people are currently living with these conditions in the UK. IMDs can be life-changing or life-limiting, potentially leading to a dangerous imbalance of chemicals in the body which can result in organ damage, disability and death.

The devastation narrative of rare disease

In 2021, when Kirsty Hoyle, CEO of Metabolic Support UK, moved from being the CEO of a disability rights organisation to a rare disease organisation, she was immediately struck by the difference in the images, narratives and schemes of work that surround our rare community, despite the similarities of their experiences.

“People living with a rare disease are bombarded with literature that talks of the conditions they live with as having intolerable burden or devastating impact.” – Kirsty Hoyle, 2023

However, does this “devastation” narrative genuinely support people living with a rare disease to live well? And do we, as a patient organisation, do enough to explore what living well with a rare disease looks like? Reflecting upon these questions and what our community might think were the beginnings of the Thoughts into Action (TiA) research project.

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Asking our community what matters to them

Thoughts into Action aimed to understand what quality of life (QoL) means for people living with IMDs, as defined by the IMD community. We resisted the pressure to collect quantitative data to solely provide statistics that may tell us how many people identify with an issue, and not why or how the issue arises. Knowing that, for example, “7 out of 10 people with an IMD feel lonely”, may be useful for campaigning but does not reflect the nature of the human experience.

As a rare disease patient organisation, we wanted to challenge this quantitative bias. We used a grounded theory approach to the research which enabled the factors that impact on the everyday QoL of our IMD community to naturally emerge. We had research conversations with 57 people in our IMD community, and turned the topics they discussed into valuable insight that will help us to support our community to live well with an IMD.

Living well with an IMD

How does a person with an IMD live well when no treatments are available or even on the horizon?

Our research found that people living with an IMD have a carefully woven “net” of structures that nurture, protect, develop, and sustain them, enabling individuals to live a fulfilling life. The factors identified as key to contributing to this “net” were identity, employment and benefits, food, healthcare, transitions and mental health. With gaps in these areas, individuals can fall through this “net” leading to a worsened quality of life.

“I think that’s where people need to understand in a little bit more depth, that it’s not just the medical side of things that people with these disorders [are affected by], it’s their day-to-day lives that are being affected. It’s the social side as well.” – TiA participant, 2023

The context in which a “net” is created or maintained has a high impact on its strength and we found that the main contextual factors impacting the strength of the “net” are belief and disbelief.

A context of belief or disbelief is directly linked to the level of understanding and awareness of others. Generally, in a context of belief, people will have at least some understanding about the nature of the IMD, as well as its current and future impact on the person living with the IMD. This results in actions which are nurturing and open, though potentially still uncertain. In contrast, in a context of disbelief, little or no understanding of the nature of the IMD or its current and future impact of the IMD is present among people interacting with the person with an IMD. This results in actions which are confrontational or sceptical, or a plain refusal to act.

What became clear through our research is that our IMD community are most vulnerable to the negative impact of disbelief and a lack of understanding when they are falling through a gap in their “net”. They have experienced a variety of attitudes including ableism, intrusion, apathy and misunderstanding, which have resulted in behaviours including rejection, bullying, social smoothing and deprioritising.

The impact of belief and disbelief on individuals is evident in the context of medical gaslighting, a term increasingly used in the rare disease community to articulate the challenges of being dismissed or not believed. Examples of this in practice were shared throughout our research, with one participant describing the moment that led to her diagnosis, which helped her strengthen her “net”. This moment started in a context of disbelief and transitioned to a context of belief after the participant took directed action:

“I was pushing a buggy with my hands in agony. And doctors were saying, there’s nothing wrong with you, because I was still using my hands. I kept saying, I don’t really have a choice. I would be in bed with ice packs, hot water bottle, hands stretched out on two pillows.

The doctor who did take it seriously rang me to apologise. I had mini fractures everywhere. They were in shock that that had been just so badly missed. It’s very interesting seeing how, over the years, various specialists literally just look at what somebody else has written, and they don’t listen to us at all as to what we present.” – TiA participant, 2023

Many shared their experiences of simply trying to go to the cinema or do the weekly shop. Where the perceptions and actions of others were of equal, if not greater, hinderance to access than physical access barriers. There is a narrative in society around chronic illness and rare disease that looks upon people with prejudice and often negative preconceived notions. It is harmful and not always clear. Our community voiced the negative impact that choice of language and body language can have on their well-being, and desire and ability to engage with the world.

“You don’t have to look down at me. Like, I’m a human being. I’m still, you know, living and breathing. I’m just sick. Or you know, I have a medical issue. [That] doesn’t make me any less of a human being” TiA participant, 2023

As our participant states, having a “medical issue” does not make them, or anyone else, less of a human being. A human being with dreams, goals, plans, and hopes for the future. Our research suggests it is the lack of understanding and accessibility of the world that pokes holes in their “nets” and lowers quality of life, not their condition. Whilst health care is important, treatment does not address these inequalities and discrimination. Our community deserve to live well today, as they are.Read the full Thoughts into Action report from Metabolic Support UK to find out more about each key area and the stories our community shared. Available in audio, BSL, Easy Read, plain text and PDF. Join the conversation around living well with rare disease.

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