About International Rare Disease Day
The last day of February every year is International Rare Disease Day. In a leap year, it falls on the 29th as a kind of metaphor for such rarity. It is used to highlight those conditions that have no more than a few hundred to a few thousand patients globally. These are diseases that get little attention because their patients are so few in number and they’ve received little research. So various charities come together every year to highlight issues surrounding rare diseases – their existence, how they affect patient’s lives and what is being done about them. It’s aimed at the general public, health authorities and organisations, industry and employment, and health professionals.
What Constitutes a Rare Disease?
According to medical researchers in the European Union, a rare disease is a condition with 5 or fewer patients for every 10,000 people. Between 6,000 and 8,000 conditions are classified as “rare diseases” so we couldn’t possibly list them all here. It is estimated that 5 new rare disease conditions are identified every week. That’s a lot of conditions and a lot of headaches for medical researchers. Around 5% of us (that’s 1 in every 20) will be affected by a rare disease in our lifetime; in the UK population alone, that’s around 3 million people. Most do not have a cure; some are untreatable. We do know that with 80% of rare disease, genetics are largely the cause. The majority of others come about due to infection.
Some of the better-known rare diseases include:
• Cystic Fibrosis: A hereditary condition leading to the production of thickened mucus. Untreated, it can lead to infection and problems with the respiratory system
• Huntington’s Disease: Another genetic condition, this one leading to progressive dementia through degeneration of the brain cells
• Most childhood cancers: cancer is typically associated with older age, but we know all too well that there are child-specific conditions too
• Progeria: A condition that causes premature ageing in children from around age 2. Most do not live beyond their 13th birthday. Incredibly, it is estimated that just 80 children worldwide have the condition
Truly an International Event
The event just gets bigger and bigger each year. 70 countries – that’s over half – are holding events across their various nations and the official Rare Disease Day website lists over 332 across them. It brings together researchers, members of the public, charities and lobby groups to improve understanding of all rare diseases. Some have received more attention than others, some because they are unusual and some because they’ve been portrayed in media.
But people with rare diseases come up against all sorts of problems. They are often undiagnosed or misdiagnosed because most doctors will not come into contact with them. The rarer a disease, the less likely a patient is to receive a quick diagnosis. But things are changing; part of the reason for the existence of this day is to increase communication and to lobby for better policy making to help people suffering from such rare conditions.
The 2018 Theme
As with most awareness days, each year brings a different theme for International Rare Disease Day. Now in its 11th year, it’s time for 2018 to be the year of Rare Disease Research and they’re calling on patients to be proactive. In the world of instant communication, there are many outlets for patients to contact medical professionals – especially researchers – to help them to help patients. Conferences, online support groups, active engagement, fundraising, pressuring for research – all of these things can help develop treatments and medicines and find out what makes these thousands of rare diseases tick.