Rare Thinking

MSUK Rare Thinking Festival Agenda (Public)

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Metabolic Support UK are proud to present ‘Rare Thinking’, a three day festival of ideas, connections, and opportunities for people living with Inherited Metabolic Disorders (IMDs) and their communities. The Covid-19 pandemic has changed the landscape for those living with rare diseases from the use of telemedicine to a reframing of quality of life and wellbeing. Amidst these changes, the UK rare disease landscape is undergoing increasing change through consultations on topics such as technology appraisal processes and regulation and further review of the Rare Disease Framework. Alongside these wider movements in our sector, all impacting the diagnostic odyssey and equality of treatments, we have also seen shifts in the lived experiences of those we support.

This festival is an exploration, asking how we respond to a changing landscape to ensure our rare communities are not left behind.

An exploration of power and identity perception for people with inherited metabolic disorders and how this intersects all areas of our lives

  • Day 1

    Thursday 25th November

    • 10.30 – 11.15am

      Panel Discussion: My body, my identity

      Angela Matthews, Head of Policy at Business Disability Forum and living with Phenylketonuria (PKU), Sally Hatton, Patient Advocate living with XLH and trustee of XLH UK, Pippa Stacey, chronically ill writer and blogger, Laurence Woollard, Director of On the Pulse consultancy and patient advocate for haemophilia and rare diseases, Chair: Kirsty Hoyle, Metabolic Support UK

      A facilitated conversation between leading activists and people living with long term health conditions, discussing the intersections of healthcare, identity, diversity and human rights. Panellists will share their perspectives on:

      • Living with an IMD and/or long term health condition and the impact on identity and everyday life
      • Disability/human rights and the intersections with living with an IMD/long term health condition
      • Their experiences of challenging discrimination in all areas of their lives
    • 11.30pm – 12.15pm

      Panel Discussion: It’s in our DNA

      Simon Wilde, Engagement Director, Genomics England, Dr Robin Lachmann PhD FRCP, Consultant in Inherited Metabolic Disease, Lesley Greene, Metabolic Support UK Founder, Chair: Jess Doyle, Metabolic Support UK

      With increasing public access to, and involvement in, genetic testing we set out to look at what this means for IMD patients. Topics covered:

      • What is genetic testing and the 100,000 Genomes Project?
      • What is the value of genetic testing for people living with IMD’s?
      • How does access to private genetic testing impact the future diagnosis of IMD’s?
    • 1pm – 1.45pm

      Panel Discussion: Our voice, heard

      Speakers TBC, Chair: Kirsty Hoyle, Metabolic Support UK

      This session will see leading experts in advocacy and patient engagement sharing their advice on how to advocate for your needs and how to harness your lived experience to make change. People living with IMD’s will hear stories of individual empowerment and solutions to barriers in healthcare.

    • 2pm – 3pm

      Lightning Talks: Let’s connect

      Giving you the mic – people living with IMDs and organisation in the field sharing their story in 5 minutes or less. An opportunity to connect and learn from others in the rare disorder community.

    • 4pm – 4.45pm

      by invitation only – Metabolic Support UK 40th Birthday Celebration and Report Launch

Practical advice around our daily needs as well as an opportunity to share existing experiences to contribute to wider learning.

  • Day 2

    Friday 26th November

    • 10am – 11.00am

      Webinar: Your working life

      Jake Lockyer, person living with Hypophosphatasia (HPP), Sarah Williams, person living with Adult Polyglucosan Body Disease (APBD), Stuart Plage, Senior Advisor, ACAS, Chair: Kirsty Hoyle, Metabolic Support UK

      People living with IMD’s face particular challenges in their working lives. This session brings together examples of lived experience of barriers in the workplace and information on knowing your rights as an employee. Topics included include living with a progressive condition and remaining in work, and exploring employers duties to provide reasonable adjustments and support mechanisms – advice for those feeling pushed out of the workplace.

    • 11.30pm – 12.30pm

      Panel Discussion: A Rare Education: advocating for accessible learning

      Speakers TBC, Chair: Helen Morris, Metabolic Support UK

      This session provides peer guidance on navigating the education system to support accessible education opportunities. Hearing directly from parents, educators, students this session will support families who have members entering the education system, at all levels. Topics include:

      • How to prepare for your child entering school for the first time
      • Ensuring teaching and support staff have awareness of your child’s rare condition
      • Understanding differing support mechanisms within schools
      • ‘Been there, done that’ – Lived experiences of a person living with an IMD throughout school and higher education and gaining independence and confidence in understanding and managing their disorder.
    • 1.30pm – 2.30pm

      Panel discussion: Your money, your rights

      Speakers TBC, Chair: Helen Morris, Metabolic Support UK

      Sharing a parents perspective and Metabolic Support UK’s views on the issues faced by people with IMDs in navigating and accessing financial support plus specific advice on key issues. Topics include:

      • What benefits are available and how can I apply for them?
      • Who can support me in completing my application forms.
      • What evidence is required – how is this different for IMDs, what are the challenges?
      • How I can appeal decisions and where to access support.
      • How can I access equipment or supplies not covered by benefits?
    • 3pm – 4pm

      Presentation: Family Planning & Genetic Counselling

      Accessing genetic counselling and advice for future pregnancies, where there is a family history of an IMD. How this is facilitated and what to expect. Topics include:

      • What is genetic counselling?
      • How can I access genetic counselling?
      • Assessing risk for future pregnancies and family members.
      • How is this communicated and what support is available?
      • Options for testing in future pregnancies

An opportunity for selected disorder specific communities to receive updates on the latest treatment and technologies, connect with others and help us build and shape the rare disorder landscape.

  • Day 3

    Saturday 27th November

    • 10am – 11:am

      Connecting the Congenital Sucrase-Isomaltase Deficiency (CSID) Community

      Visit our first dedicated session for the CSID community! This new venture aims to bring together people living with CSID and their parents and carers to have an open discussion about shared experiences of gaining a diagnosis, the impact of CSID symptoms, and accessing treatments. We want to know what’s important to you, what’s going to help, and make a real commitment to working together to raise awareness and ensure better access to support. We want to hear your voices and your opinions!

    • 11.30pm – 12.30pm

      Rare Bone Disease Alliance

      Do you have a rare bone disorder? We’re here to introduce you to the Rare Bone Disease Alliance and give an insight into who they are and what they do. We’ll be exploring how collaborative efforts within the rare bone disease community are looking to drive forward efforts to raise awareness and knowledge with the ultimate aim to improve diagnosis, care pathways, and treatments and how you can get involved in sharing your voice.

    • 1pm – 1:30pm

      Emerging treatments and therapies for the Methylmalonic Acidaemia (MMA) and Propionic Acidaemia (PA) Community

      During this information-packed session, we’ll be bringing the latest updates on treatments and therapies in the pipeline for MMA and PA. We’ll also be exploring how collaborative efforts can improve outcomes for those with rare disorders and we want to hear your views about the future of MMA & PA support. During this session we aim to work with attendees to develop a new action plan for the MMA and PA communities to improve awareness, develop resources, and shape the future of support.

    • 2:30pm – 4:00pm

      Emerging treatments and therapies for the Urea Cycle Disorder (UCD) community

      With the vast amount of new and emerging developments in this area we have extended the timeframe for this session. We’ll be bringing you the latest news on new treatments and therapies and information on how to access novel resources developed specifically to assist in the management and understanding of UCDs.

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Check out our added extra accessible throughout the conference! – A frank conversation about the relationship between Metabolic Support UK and the pharmaceutical industry.
This short video aims to explain the relationship between Metabolic Support UK and pharmaceutical companies and what this means for you – people living with IMD’s. Topics covered include:

  • Putting the people behind the pharma – who is behind drug development?
  • What does a pharmaceutical company do? – a timeline of drug development
  • Why choose rare diseases? How is the subject area selected?
  • What are the rules around patient / pharma relationship?
  • Why do Metabolic Support UK work with them?
  • How is the ‘patient voice’ represented and how does Metabolic Support UK use the information I share?