Collectively Common

While each rare disease is ‘rare’, there are so many of them that it’s not actually rare to live with one. In fact, approximately 6% of the global population live with a rare condition – this is the equivalent of total population of the USA

3.5 million people in the UK live with a rare condition – the same number of people that live with cancer.

Until fairly recently it hasn’t been usual to think of all rare diseases together, meaning that every disease or subgroup of diseases were being considered separately. Our approach is to consider all rare diseases together under the umbrella term of ‘rare disease’ – a bit like all the different types of cancers are considered together under ‘cancer’.

This helps us to communicate the common needs of this large patient population to healthcare professionals.

Common Challenges

Living with a rare disease comes with challenges that are different to when someone has a commonly understood condition.

Different rare diseases may be different in the way they impact a person’s health but still share very similar challenges. This is because challenges are often caused by the design of health and social systems. Or because when conditions are rare, there is often less information about them available for the healthcare professional and the patient. 

In 2021 The UK Government’s Department of Health published The Rare Disease Framework with outlined 4 key Priorities that need improvement in the UK:

• Reducing time to diagnosis – the average time to get a diagnosis in the UK is 4-6 years
• Improving healthcare professional awareness – lack of HCP awareness is 3rd greatest cause of mental health issues in rare disease
• Better coordination of care – the majority of people have to coordinate their own complex care or have a family member do it for them
• Improved access to specialist services and treatment – not all patients with rare disease have seen a specialist in their condition or are taken care of under a specialist service in the NHS

Rare Aware

Our Rare Aware approach acknowledges that no single doctor can recognise and manage over 6000 different rare diseases. Instead doctors need to be ready to recognise when a patient may have an undiagnosed rare disease and what to do next. We focus on the collective shared experience of millions of people so we can start to help people with simple and inexpensive actions based on their reported experiences and expressed needs.

By completing Rare Disease 101 training doctors can build on these skills to make their everyday practice Rare Aware.