Rare Disease Day 2014: Join Together for Better Care

Today is the seventh international Rare Disease Day. Co-ordinated by EURORDIS and NORD and celebrated on the last day of February, Rare Disease Day was founded to raise awareness about rare diseases. It has grown in popularity each year, with 72 countries having participated in 2013 and the theme for 2014 is “Join Together for Better Care.”

In Europe, a rare disease is defined as one that affects fewer than 1 in 2000 people. However, there are estimated to be between 6000 and 8000 rare diseases, many of which are chronic and debilitating. It is thought that between 6 – 8% of the European population (or roughly 1 in 14 people) has a rare disease, meaning that rare diseases affect a huge number of people. Approximately 80% are genetic, and half affect children, a third of whom are predicted to not live to see their 5th birthday.

Despite having different conditions, rare disease patients often face a very similar set of challenges. A lack of scientific and medical knowledge means many patients have difficulty getting a diagnosis or finding doctors with relevant expertise and often there is no effective treatment or cure. Many rare diseases are multi-systemic, and fragmented care pathways means patients have to visit multiple specialists – sometimes at different hospitals – about the different aspects of their condition, which is time consuming. Additionally, a lack of communication between specialists can sometimes mean that doctors are working at cross-purposes, and causing harm to the patient. Access to medical and social care can be uneven and subject to local resources rather than patient need and patients often feel isolated due to a lack of support and information.

Although these challenges are significant, they are not insurmountable and a number of initiatives are aiming to help rare disease patients overcome these hurdles. Research consortia and companies like IRDiRC and Genomics England will improve diagnosis rates: IRDiRC is aiming to establish the means to diagnose most rare diseases by 2020, and Genomics England will sequence the genomes of tens of thousands of rare disease patients to determine the genetic cause of their disease. These research insights will inevitably aid researchers in developing rare disease therapies, and IRDiRC hopes to have developed 200 therapies by 2020 – they have already developed 105 therapies since their establishment in 2010, meaning they are well on their way to achieving this goal.

In Europe, all EU member states submitted rare disease strategies in 2013, describing how they will provide better healthcare for patients with rare diseases, and the UK Strategy for Rare Diseases was launched in November. The UK Strategy for Rare Diseases concentrates on five main areas: identifying and preventing rare diseases; diagnosis and early intervention; coordination of care; the role of research; and empowering patients, encouraging them to have a greater role in decision making about their own care (Salzberg Global Seminar, 2011). Additionally, there are a number of projects that have established multi-disciplinary centres and care co-ordinators for those with rare diseases, such as new NHS multi-disciplinary clinics for patients with Alström Syndrome.

A number of events are planned for Rare Disease Day in the UK, including parliamentary receptions, and a showcase of rare disease research for school children at Royal Holloway, part of the University of London. For more information on events near you, and how you can support Rare Disease Day, please visit the Rare Disease Day 2014 website.

 

www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.

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