Rare Disease Day: Why GP Awareness Matters

This year, February 28th marks Rare Disease Day, an annual European awareness day that highlights the various rare diseases affecting a small percentage of the population. It is co-ordinated by EURORDIS (The European Organisation for Rare Diseases). Raising GP awareness of rare diseases is important. It can help patients get diagnosed quicker and ensure others get the support they need.

About rare diseases

A disease is classed as rare if it affects fewer than 1 in 2,000 people. While there are over 6,000 known rare diseases, some of the most well-known include Huntington’s disease, cystic fibrosis and rare cancers that affect children. Around 50% of rare diseases affect children, and many are caused by genetics, allergies or bacterial infections. Rare diseases often have no cure, causing pain to sufferers as well as shortening their lifespan.

Rare Disease Day raises awareness of lesser-known conditions that have a serious impact on those affected. The theme for this year’s Rare Disease Day is ‘bridging health and social care’ to help break down some of the barriers that exist between social, support and medical services. The aim is to help patients get the care they need and ensure better co-ordination.

How GP awareness can help

Many of the first signs of a rare disease will be brought to a GP, providing a crucial chance to get diagnosed and receive the right support and treatment. Back in 2010, there were calls for GPs to receive help diagnosing rare diseases through better training.

GP awareness is vital to ensuring that patients get the diagnosis they need. There are some positive examples of patients who have visited their GP and received a diagnosis for a longstanding condition that could lead to serious problems in later life. Now, a new health tech startup, Mendelian, has been given a £500,000 grant from Innovate UK to help develop a platform that will enable GPs to diagnose rare conditions more quickly. It is hoped that the platform will raise flags where necessary to ensure that referrals for further testing are carried out.

Understanding the signs and symptoms of a rare disease is vital at the triage stage, especially for out-of-hours doctors who might encounter symptoms that need further investigation.

The role GPs play in treating rare disease

There have been studies around rare disease in general practice that highlight the important role that GPs play. While it can take years to diagnose a rare disease, especially given the sheer volume of rare diseases that are out there, GPs will be at the centre of a patient’s care. It is said that patients often become ‘experts’ in their own condition, and will work together with their GP to explore treatment options.

Treating a rare disease can be a lifelong battle, with GPs at the heart of providing information, researching, and providing support to patients. This includes treating some of the more obvious symptoms and problems, which can be overlooked while looking at the bigger picture. GP awareness of rare diseases is vital if health services are to provide the individualised care these patients need.

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