Rare diseases day February 28^th 2013 aims to raise awareness of rare diseases and their impact on people’s lives. These diseases have a cost, not just to the people affected and their families, but also in medical care, lost earnings, and to pay for research into improving diagnosis and treatment.

Diseases are classified as ‘rare’ if they affect less than one in 2000 people. But in reality ‘rare diseases’ are not that rare. In the UK alone one in 17 people will be affected at some point in their lives, which equates to more than 3.5 million people. Most of these will be children, and 30% of individuals with a rare disease will die before they are five years old.

Currently there are over 6,000 known rare diseases with five new ones being identified each week. But even though 80% of rare diseases have identified genetic origins, a lack of scientific knowledge means that these diseases can be difficult to diagnose and treatment options are limited.

But what is the cost of rare diseases such as Friedreich’s ataxia and what does that mean? By analyzing direct and indirect costs of care research in Orphanet Journal of Rare Diseases calculated that conservatively this disease costs between £11,000 and £19,000 per person per year. But the costs are not just medical. There are also hidden costs as many people with Friedreich’s ataxia are children and young adults who are predominantly cared for at home by their families.

Dr Paola Giunti from the UCL Institute of Neurology and UCLH, explained, “The costs of more common progressive diseases such as Parkinson’s Disease are known but it is not really possible to base budget allocations of one disease on the expectations of another without understanding the differences in need.” She continued, “Our results show that […] a ‘one size fits all’ strategy is unlikely to provide the best care to people with rare diseases.”

Similarly, compared to common diseases that affect people as they get older, such as diabetes or COPD, the cost per person of Chronic lymphocytic leukemia (CLL), which is mainly a disease of people over the age of 55 and affects 2,400 people in the UK each year, is about twice as high. The authors of this article point out that because of improving general health and healthcare and because people’s lifespans are increasing (an aging population) the economic burden of the disease will continue to grow.

Even within one disease costs of treatment are not clear. A costly treatment for Fabry disease involving enzyme replacement therapy (ERT) is not always successful, and an analysis of costs compared to patient response highlights the need for more research and the necessity to personalize treatment.

Friedrich’s ataxia results in progressive damage to the nervous system and although classified as rare, it affects one in 50,000 people. But other diseases such as Progeria affect only one in four to eight million people worldwide. A report by the WHO explains why this is a problem for organizing research and research funding. “There are just three cases of progeria in France,” said Paloma Tejada, communications director at the European Organization for Rare Diseases (EURORDIS). “You cannot organize clinical trials on that basis. You have to achieve critical mass and that means international collaboration.”

The European Commission is trying to do just that. By pooling resources, enabling collaboration and sharing expertise via European reference networks the hope to improve screening, provide collective expertise, and encourage research. At a local level Rare Diseases UK is campaigning for a UK-wide strategy about rare diseases. This week they have been lobbying at the Welsh Assembly, Scottish Parliament, and the House of Commons, presenting reports into the needs of patients and families based on real experiences of living with a rare disease.

This year’s theme for Rare Disease Day is “Rare Disorders without Borders”. Coordinated by EURORDIS, and involving rare disease national alliances in 24 European countries, plus hundreds of patient organizations from more than 60 countries, the sixth international Rare Disease Day aims to help ”find common solutions and remind them they are not alone.”