Rare Disease Day

What is a rare disease?

In European countries, a disease is defined as rare when it affects fewer than 1 in 2,000 people.

There are over 300 million people living with one or more of over 6,000 identified rare diseases around the world. Each rare disease may only affect a handful of people scattered around the world but taken together, the number of people directly affected is equivalent to the population of the world’s third largest country.

Rare diseases, which include muscular dystrophy, childhood cancers and conditions such as Lowe syndrome, currently affect between 3.5% and 5.9% of the worldwide population.

72% of rare diseases are genetic whilst others are the results of infections, allergies of environmental causes, or are degenerative and proliferative.

Relatively common symptoms can often hide underlying rare diseases, frequently leading to misdiagnosis and delaying treatment. The lack of scientific knowledge and quality information on each rare disease can not only lead to delays in diagnosis but also difficulties in accessing the right treatment and care.

What is Rare Disease Day?

Rare Disease Day takes place on the last day of February each year to raise awareness of the impact of rare diseases on patients across the world, as well as on their families and carers. Its aim is to ensure all people who are affected can access diagnosis, treatment, health care, social care and social opportunity. Its organisers, Eurordis, act as an advocate for rare diseases as a human rights priority at local, national and international level, working towards a more inclusive society.

The awareness day was first held in 2008 when 18 countries held events to mark the occasion. Progress has continued to be made each year since and in 2019, events were held in over 100 countries.

Why is Rare Disease Day important?

Building awareness of rare diseases is incredibly important as 1 in 20 people will live with a rare disease at some point in their lives and yet, there is no cure for the majority of them and many go undiagnosed. Holding Rare Disease Day each year improves knowledge among the general public while encouraging researchers and decision makers to address the needs of those living with the diseases.

Misdiagnosis leads to further complications

It seems that patients and families have faced an inequitable level of care from the NHS for many years because they are suffering with conditions that are so rare.

A report by Rare Disease UK back in 2010 showed that half of all patients in the UK with a rare disease are initially misdiagnosed and wait years for doctors to correctly determine their condition. At that time, almost 20% of patients had lived with their condition for more than five years before being accurately diagnosed and over 10% had to wait more than 10 years.

According to a more recent report this year from the Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease, children still typically wait six to eight years before being diagnosed, and in more than 40% of cases, patients of rare diseases receive a misdiagnosis more than once.

The long road to correct diagnosis can be extremely traumatic for patients and their families, affecting the health, survival and well-being of those affected by a rare disease. Clearly, delays in diagnosis can lead to inappropriate disease management as well as disease progression, causing even more problems for the patients who are already suffering. When symptoms present similar to another disease, misdiagnosis often leads to unsuitable interventions for the underlying disorder. The writers of the report mentioned above state that for children with a rare disease, shortening the average six to eight-year diagnostic journey could be the key to a longer, healthier life.[i]

It is obviously more difficult to determine the presence of a rare disease in patients and understand how best to treat it but it does not seem fair that those who have these illnesses should suffer further simply because their condition is so rare. There is a clear need for a co-ordinated, national plan for the diagnosis, treatment and research of rare diseases and we hope that events planned for this year’s Rare Disease Day go some way towards raising this issue on the government’s agenda.

[i] World Economic Forum, 28 February 2020 (W. Nothaft, C. Goldsmith, Y. Le Cam)