THE BLOG

Rare Disease Day 2015: Why We Need to Care for the Rare

23/02/2015 13:22 GMT | Updated 25/04/2015 10:59 BST

In the leap year of 2008, it was decided that 29th of February would see the celebration of Rare Disease Day; a rare day for the rare disorders which affect people all over the world.

The last day of February has since become an annual day of recognition for Rare Diseases, coordinated by Eurodis. Events are held globally to raise awareness for the rare disease community, and to highlight the necessity of funding research into these conditions.

So, why all this effort to raise awareness for rare diseases? If they're rare, why care?

Well, the short answer is that when you put them together, they're not rare at all. In the UK alone, it is estimated that 3.5 million people live with a rare disease, or approximately 1 in 17 people. There are around 7,000 different known rare diseases, and very few have treatments - let alone cures.

Alistair Kent, chairman of Rare Disease UK asks "Can you imagine if that number of people were affected by any other one disease, costing the UK billions of pounds every year and causing long-term suffering and premature death, and went untreated? There would be an outcry."

Funding the research into rare disease is a challenge, not least because often even doctors haven't heard of a particular rare disease. Too, most of the leading organisations for each condition are run by patients themselves, rather than by a health body.

However, it is clear that researching rare conditions often leads to greater insights about other conditions with similar characteristics - this helps develop more targeted treatments, and move away from a 'one size fits all' approach to medicine.

Statins, for example, were originally developed to treat rare disease familial hypercholesterolemia. However, the research surrounding them showed the drug could also be used to treat high cholesterol, a leading cause of heart disease which affects 2.7 million people in the UK.

British charity Findacure is leading the way with this way of thinking. They have coined the term 'Fundamental Diseases' to highlight the potential that studying rare diseases brings. The charity's chairman, Dr Nicolas Sireau, notes that this important not just for its own sake, but also "for better understanding the fundamental aspects of human biology".

However, while there are continuing attempts to cut spending on medicines, and commercial pharmaceuticals need to maintain profit in their drug development, rare or 'fundamental' diseases are neglected. We need to change this.

We need to bring rare disease patients together, and initiatives like Rare Disease Day help facilitate a community amongst what can seem like a very fragmented, isolated movement. Increasingly, it is patients themselves who are finding ways to fund research and palliative care, but this shouldn't be the standard.

There is encouraging news, however. In November 2013, the Government Department of Health released their UK strategy for Rare Diseases, outlining 51 commitments to improve treatments, diagnosis and support.

Health Minister Lord Howe said:

"For the first time, we are strengthening the links between research and the treatment and care of patients with rare diseases. This is about putting those patients first, with better diagnosis, treatment and support for them and their families."

I think we can all celebrate that.