3.5 million people in the UK live with a rare condition – the same number as those living with or after cancer. Yet while cancer training is standard, the requirement for rare disease training remains under-recognised in clinical practice.
The impact on those affected is profound, with individuals and families navigating complex healthcare journeys alone, leading to significant health inequalities and in some cases, avoidable tragedy.
As part of our mission to improve the lives of people and families living with rare conditions, the Manchester Rare Conditions Centre is pleased to join forces with Medics for Rare Disease to highlight the critical role of improved training for healthcare professionals and students in transforming the experiences of those affected – and where to find it.
A Preventable Death: Why Rare Disease Training Can’t Wait
Evan Nathan Smith was just 21 when he died during a sickle cell crisis at North Middlesex Hospital. Despite repeatedly asking for help, he was denied essential treatment, including pain relief and oxygen. In desperation, he called 999 from his hospital bed. His death led to the All-Party Parliamentary Group for Sickle Cell and Thalassaemia publishing the No One’s Listening report, which uncovered multiple failings in his care, compounded by systemic racism. Click here to read the full report.
Although focused on sickle cell disease, the report’s findings echo across the rare disease community where patients can be hesitant to seek help due to fear of being dismissed or mistreated. This case underscores the urgent need for improved rare disease training for healthcare professionals and more equitable care for people living with rare disease.
Common Struggles for Clinicians
The lack of rare disease training is not only felt by the patient community but is recognised by medical professionals themselves. Many studies show that healthcare professionals feel unprepared to support diagnosed and undiagnosed rare disease patients. A European study of nearly 1,000 clinicians found that while most had encountered rare disease, fewer than one in five felt confident making a diagnosis.
A study carried out by Medics for Rare Disease and The University of Cardiff found that rare disease teaching is inconsistently delivered across medical schools, and that student awareness of rare conditions does not consistently improve as they advance through their studies. Importantly, many students report feeling unprepared to recognise and support their rare disease patients when they enter clinical practice.
Make your Clinical Practice “Rare Aware”
You don’t need to memorise 6,000+ rare conditions in order to provide safe and informed care for patients and their families. Just like you don’t need to know about the details of every cancer to support affected patients. You need to understand the common challenges that individuals and families face before, during and after diagnosis of a rare condition. Challenges include:
● Long delays to diagnosis averaging five years
● Uncertainty
● Multiple misdiagnoses and fragmented care
● Devastating impact on mental health and wellbeing
● Long-term disability and social stigma
Being “Rare Aware” means being able to recognise when a patient could be living with an undiagnosed rare condition and taking the right next steps. It also means having an understanding of the common themes of the rare disease lived experience and how to provide informed, holistic care to affected people and their loved ones. These skills can transform patient outcomes and save lives.
Rare Disease 101: Practical Training That Works
Rare Disease 101 is a free online course created by healthcare professionals, advocates and people with lived experience. It’s designed to be practical, accessible, and immediately useful in your daily practice. You’ll learn:
● When to suspect a rare condition
● What steps to take when you do
● Essential tools and resources for clinical practice
● Patient perspectives that bring the learning to life
● Compassionate approaches to supporting patients and families
Perfect for healthcare professionals, students, and anyone committed to improving patient care.
Start Making Your Practice Rare Aware Today!
Rare Disease 101 is part of MfRD Learn – a free educational hub created by Medics for Rare Disease.
About Medics for Rare Disease
Medics for Rare Disease is a UK charity (charity no. 1183996) with a mission to shape a medical profession that can provide people living with rare conditions a timely diagnosis and excellent care. The charity advocates for a Rare Aware approach to medical training for all medical professionals. It provides novel rare disease training and education both online and in-person and works with a network of clinical and lived experience Ambassadors to expand its mission nationally. Learn more at m4rd.org
@MedicsForRare
@Medics for Rare Disease