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What is Quality of Life (QoL) for people living with a rare disease?  

A UK patient organisation aims to find out…

Metabolic Support UK announce the launch of their new research project, ‘Thoughts into Action’. 

This project aims to identify what quality of life is as determined by our Inherited Metabolic  Disease community using a research methodology that allows them to speak, on their own terms, and for their stories to be meaningfully used to affect direct change.  

Working with a grounded theory research specialist we will have conversations with people living with Inherited Metabolic Diseases (IMD) to provide key insights into how our communities live with their condition and explore how they perceive everyday Quality of Life  (QoL). 

QoL is a term used widely and variably in the rare disease world, but we want to ask if the definitions used to make decisions that impact on our communities’ lives reflect their lived experience. We will then explore how everyday quality of life, as identified by the IMD  community, is served by the current UK rare disease and wider policy landscape. And, as the  umbrella patient organisation for people living with an IMD, do we currently structure our services to authentically reflect the needs of our community?  

We are motivated to identify our own relevance and purpose as a patient advocacy group to  ask the question: If we weren’t here what would change?  

The findings from this research will be published as the Thoughts into Action Report in August  2023 and will deliver both a plan of action for MSUK’s work and a set of ambitious and achievable recommendations for all rare disease stakeholders to enhance the everyday quality of life of all people living with an IMD in the UK by 2030 as identified by the patient community.  

Steering Committee: 

The project is guided by an experienced steering committee providing professional and lived experience expertise to help shape the project design, insight methodology and report. We  are grateful to all steering committee members: 

  • Chair: Sheela Upadhyaya, Freelance Life Sciences Consultant
  • Heidi Livingstone,  Senior Public Involvement Adviser, NICE  
  • Victoria Hayes, Director of Public Affairs, Kyowa Kirin Ltd  
  • Sally-Anne Tsangarides, Freelance Consultant  
  • Jamie O’Hara, CEO, Prime Global  
  • Rosa Willock, Senior RW Manager, Prime Global  
  • Sara Hunt, CEO, ALEX TLC  
  • Jake Lockyer, Patient Advocate  
  • Elin Haf Davies, CEO Aparito & Chair of Metabolic Support UK 
  • Lynne Aitkenhead, Clinical Psychologist
  • Liz Morris, Clinical Nurse Specialist, Cambridge University Hospital NHS Trust 
  • Dr Elaine Murphy, Metabolic Consultant, University College London
  • Dr Roshni Vara, Metabolic Consultant, Guys and St Thomas’ Hospital
  • Nick Meade, Head of Policy, Genetic Alliance UK

About Metabolic Support UK 

Metabolic Support UK are the leading organisation for Inherited Metabolic Disorders (IMDs),  supporting thousands of people worldwide through providing individual support, building communities, and continually advocating for and empowering those living with IMDs. 

Since its inception in 1981, MSUK has strived to support those in the rare community,  expanding new-born screening, accelerating the development of orphan drugs, and acting instrumentally in establishing EURORDIS; ensuring people living with IMDs have the best quality of life possible. 


‘’Thoughts into Action is a pioneering research project allowing people living with Inherited  Metabolic Disorders a unique opportunity to share their lived experiences in a way that will directly influence the support they receive. Using a grounded theory research method, this project will meaningfully centre patient voices in the development and delivery of services.’’ 

Sheela Upadhyaya, Chair of Steering Committee 

‘’There is a lack of understanding around what people living with rare diseases need. Support  around employment, access to better dentistry, clearer information on benefits available are  all really important areas that impact my quality of life, alongside the drive for treatments’

Jake Lockyer Patient Advocate living with an Inherited Metabolic Disease

‘’Rare disease patient organisations need to be authentically driven by the needs of the rare disease community. But are they? And who’s checking? At Metabolic Support UK we want to know if our services accurately reflect what our communities tell us they need and if not – 

change. We want to be authentic and transparent about what we do, how we fund it and why we do it. Thoughts into Action places power in the hands of our rare disease community  by producing first-of-a-kind qualitative insight from our communities.’’  

Kirsty Hoyle, CEO, Metabolic Support UK 

Contact details 



0845 241 2173 


Unit 11-12 Gwenfro Technology Park 

Croesnewydd Rd Wrexham 

Wales LL13 7YP 

Charity numbers: 

Metabolic Support UK is a charity registered in England and Wales (1089588) in Scotland  (SCO44634) and a Company Limited by Guarantee (04267454).

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