Dare to think rare

Dr Lucy McKay ‘Dare to think rare’.

Dr Lucy McKay is Chief Executive of Medics4RareDiseases, a UK registered charity which is driving attitude change towards rare diseases in the medical profession and encouraging medical students and doctors in training to ‘Dare to think rare’.

What is Medics4RareDiseases? Medics4RareDiseases (M4RD) is a UK registered charity that is driving an attitude change towards rare diseases amongst medical students and doctors in training. In the rare disease community, we all know that while rare diseases are individually rare, they are collectively common. However, 70% of medical professionals that we have surveyed over the last three years were not aware that rare diseases affect one in 17 people in their lifetime . This is unsurprising as the mantra ‘common things are common’ is rife in medical teaching, while rare disease education can be difficult to cover in a busy curriculum.

Patient stories demonstrate time and time again that this lack of basic understanding of the relevance of rare diseases in everyday clinical practice contributes to the diagnostic odyssey. M4RD believes that fundamental teaching about rare diseases as a whole is essential for early recognition of rare disease and early instigation of treatment where available.

How did it start?

The group started as a medical school society founded by five medical students. In 2011, we hosted our first ever evening lecture about Gaucher Disease by Professor Atul Mehta. We invited clinical specialists, patients and advocates to educate our peers about different rare diseases. Other subjects included Ehlers-Danlos, Retinoblastoma and Battens Disease.

In 2013, we attracted the attention of the UK LSD Collaborative who were awarded the PALS Award from Sanofi Genzyme for our joint project ‘If you hear hooves…think zebra’. With this grant, we became Students4RareDiseases and started supporting other medical students throughout the UK to engage with rare disease education.

In order to widen our scope, we rebranded to Medics4RareDiseases on Rare Disease Day 2018 and applied to become a UK registered charity. We were entered in the Register of Charities on 20th June 2019.

Why rare diseases?

As Chief Executive and Founder, I have a personal connection with rare diseases. My eldest brother was affected by MPS II and my mother founded the MPS Society. I grew up alongside the patient group and when I went to medical school, I was surprised by how little attention rare diseases received.

This is an understandable situation because with over 7000 rare diseases it is unlikely a doctor will come across one single disease in their career. However, with 3.5 million people in the UK suffering from rare diseases1, a doctor will be seeing people with rare diseases regularly in practice. Especially as the very nature of rare diseases means those affected are more likely to access healthcare. Therefore, M4RD concentrates on rare diseases as a collective: how common they are, what challenges people face, what support there is out there for clinicians and patients.

What are your aims and objectives?

The object of M4RD is the relief of sickness and preservation of health of those suffering from rare diseases, throughout the world, by:

  • advancing the education of medics, associated professionals and the public in rare diseases, genetic and genomic medicine,
  • promoting research in all areas relating to rare diseases, genetic and genomic medicine and publishing the useful results,
  • promoting improved care and treatment of those suffering from rare diseases.

We want frontline medical professionals to ‘Dare to think rare’ – to be aware of how often rare diseases occur, how to identify signs, have knowledge of the pathway to diagnosis, empower them to think ‘is it a rare disease?’ and to know the next steps. We don’t want them to feel like they’re alone with an unsolved mystery.

What do you do and how do you do it?

We undertake a number of activities throughout the year. For the past six years, we’ve produced our own annual symposium for medics which we currently hold at The Royal Society of Medicine. We take all of our key messages and pack them into one afternoon. We invite a wide range of experts including patients, advocates, researchers and specialist clinicians. It is important that we all learn from each other. Our aim is to get our key messages grounded into the thinking of the medical professionals in attendance and engage them. Rare diseases are often complex conditions requiring numerous appointments and on average it takes four years to achieve a diagnosis1. We offer pragmatic tips for medical professionals around understanding, identifying and supporting people with rare diseases.

We also help student societies to produce their own professional events and we engage with medical students abroad to help them share messages about rare diseases in their area.

Our ambassadorship programme includes a number of doctors who raise awareness of rare diseases through events, articles, or by championing rare diseases in their Trust or teaching group.

Alongside this, we develop learning tools, engage in meaningful collaboration with other rare disease organisations, maintain a useful website and active social media presence. You can check out our Instagram Story on Mondays #MysteryDiseaseMonday.

We also run specific projects including our Red Flags of Rare Disease Survey and Rare Disease 101 Project.

What is the pharmaceutical industry doing to tackle rare diseases?

The pharmaceutical industry is hugely important in rare diseases because it is driving progress in treatment. Conditions that were previously devastating and life-limiting, like MPS II and Gaucher, have treatments available. Working together with healthcare providers, patients, researchers and advocates, the pharmaceutical industry is creating new prospects in rare diseases. It also plays an important role in education – the pharmaceutical industry isn’t just about providing treatment but also vital education about holistic management.

Who makes your work possible?

We are grateful to our industry sponsors who make the work of M4RD possible, and to those who offer non-monetary support such as business support, skills-sharing or mentoring.

Our 2019 sponsors are BioMarin, Inventiva and Sobi and we are currently looking for sponsors for 2020 so that we can continue our vital work. We believe that anyone working in rare diseases would benefit by helping us to get our message out to medical professionals.

 

Go to www.m4rd.org