About this event

  • Date and time Wed 9 Feb 2022 from 6:00pm to 8:30pm
  • Location Online
  • Organised by Medical Genetics, Medics 4 Rare Diseases

Medics 4 Rare Diseases and the RSM bring together a faculty of top speakers to explore how rare diseases are relevant in everyday clinical medicine.

At this unique annual online meeting, we will hear from patients and advocates as well as doctors in order to inclusively hear from all perspectives of the rare disease specialty. This meeting is the only one of its kind specifically targeting medical professionals to teach them about the broad concepts of rare diseases and offering pragmatic advice about how to diagnose and manage them in everyday medicine.

Very different rare diseases face similar challenges including navigating the world of healthcare. 
Around 3.5 million people in the UK live with a rare disease - making rare diseases collectively common. The rare disease and genomic field is changing rapidly and continuing medical education is desperately needed in order to make full use of new innovations and therapies. 

Learning objectives:

  • Understand that rare diseases are collectively common
  • Appreciate the common challenges that people with rare diseases face in the journey to diagnosis and beyond
  • Value the lived experience that expert patients can share with you in order to improve their care
  • Promote the work of M4RD and the role of the Medical Genetics Section

Join in the conversation online using #M4RD2022
Follow us on Twitter: @RoySocMed and @M4RareDiseases


Key speakers

Aisha Seedat

Aisha Seedat

Rare Disease Advocate

Speaker's biography

Aisha Seedat is a graduate of De Montfort University in Leicester, having been diagnosed with Morquio Syndrome from birth has not stopped her from excelling in life. Aisha is an Ambassador for the MPS Society UK, and having a rare disease herself she is passionate about supporting children and young adults like her, especially their families. She is also a public speaker as she talks about her journey with having a rare disease and how she has got through life by overcoming the largest of hurdles.

Dr Denise Williams

Consultant Clinical Geneticist, Birmingham Women's and Children's NHS Foundation Trust

Speaker's biography

Dr Denise Williams is a Consultant Clinical Geneticist and has worked in the West Midlands, based in Birmingham, for more than 20 years. Her interests include eye genetics and prenatal genetics, in which she has established regional services with mainstream clinicians. She is also the genetics lead for the national Alstrom, Bardet-Biedl and Wolfram syndrome rare disease services, which provide multi-disciplinary clinics for these patient groups supported by their patient organisations. She is passionate about health equity and has a long-standing interest in providing genetics services for ethnic minority populations.

Sondra Butterworth

Dr Sondra Butterworth

Community Psychologist, RareQoL

Speaker's biography

Dr Sondra Butterworth began her professional career nursing. She then moved into education, psychology, and finally research. These skills, combined with the learning from her PhD studies, led her to become the founder of RareQoL. This is a social enterprise based in north Wales. RareQoL has areas of work include:

  1. Rare Community Network: aimed at rare advocates.
  2. EDIRA: Equality Diversity and Inclusive Research Association.
  3. Wellbeing activities with funding from the National Lottery to develop a bilingual wellbeing newsletter.
  4. RareQoL Learning: developing a range of learning resources. RareQoL will be supporting university student to gain work experience with their Rare Community Network.

Narrative-based medicine and intersectionality.

Sondra’s PhD thesis was based on exploring the relationship between quality of life (QOL) and social support. This was a mixed method case study of adults living with rare genetic skin conditions.The study concluded that health and social care practitioners, policymakers and commissioners have to make room for QOL perspectives that come from the patient. These are wounded storytellers whose narratives are subjective but are spoken through illness. Sondra has found that the intersecting relationship between the personal characteristics of patient creates challenging lived experiences and often leads to health inequalities. Their collective experiences can influence the direction of their diagnostic journey and must be front and centre of any rare disease implementation plans in a post COVID era.Sondra promotes the use of creative approaches to research, which has focused inclusive research with diverse community and public involvement. Her work has led her to values which are based on the principles of community psychology, empowerment, inclusion and interactive bio-psycho-social models of care and support.

David Adlam

Dr David Adlam

Associate Professor of Acute and Interventional Cardiology, University of Leicester

Speaker's biography

Dr Dave Adlam is an Interventional Cardiologist from Leicester. His day-job is implanting stents and heart valves in patients with heart disease. He has a long standing interest in less common coronary artery conditions including spontaneous coronary artery dissection (SCAD) and coronary aneurysms and ectasia (CAE) and works closely with patient organisations to provide care and advance research into these conditions.


View the programme

Welcome and introduction

Dr Lucy McKay, Chief Executive Officer, Medics 4 Rare Diseases

Rare Disease 101

Dr Lucy McKay

The UK Rare Disease Framework and me

Aisha Seedat, Rare Disease Advocate

The role of genomics in achieving health equity

Dr Denise Williams, Consultant Clinical Geneticist, Birmingham Women's and Children's NHS Foundation Trust

Narrative based medicine and intersectionality

Dr Sondra Butterworth, Community Psychologist, RareQoL

Improving knowledge and understanding of rare disease: Lessons learned from an an unusual heart attack

Dr David Adlam, Associate Professor of Acute and Interventional Cardiology, University of Leicester

The Student Voice Prize 2021 winner - Putting the ‘I’ in Intersectionality: the unspoken pandemic

Miss Zainab Alani, Medical Student, University of Glasgow

Panel discussion
Close of meeting



All views expressed in this webinar are of the speakers themselves and not of the RSM nor the speaker's organisations. 

Special rates for difficult times 
The RSM wishes to offer healthcare professionals continued learning opportunities during the coronavirus pandemic. The RSM’s weekly COVID-19 Series webinars remain free of charge, while there will be small charges to register for other online education. These fees will enable the RSM to continue its programme of activities and will apply during the course of the pandemic.

Registration for this webinar will close 2 hours prior to the start time. You will receive the webinar link 2 hours before the meeting. Late registrations will not be accepted.  

Webinar recordings will be available for registered delegates up to 60 days after the live webinar, via Zoom. The link will be sent 24 hours after the webinar takes place. 

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