Living with a rare disease: Rare Disease Day 2015

Paying tribute to the millions of families whose daily lives are impacted, and who are living day-by-day, hand-in-hand with rare disease patients.

The 28th February 2015 marks the eighth international Rare Disease Day coordinated by EURORDIS. This is an important day for increasing awareness of the many challenges unique to rare diseases; these include lack of knowledge on certain diseases (among the general public and even health professionals), fewer specialist centers, finding large enough study sample sizes, the greater need for multi-center and international collaboration, low volume of research, low research funding, and fewer incentives for pharma to develop new drugs. The list goes on.

EURORDIS has an objective for the World Health Organization to recognize the last day of February as the official Rare Disease Day

For the latter issue, Orphanet Journal of Rare Diseases (OJRD) has published many articles over the years highlighting the problems around orphan drug development and suggesting new protocols and solutions. A recent OJRD article from the EveryLife Foundation recommends incorporating biomarker endpoints into FDA approvals for rare disease therapies. While this specifically looks at the USA pharmaceutical industry, the authors suggest that their recommendations can be applicable to other regions.

Here are some facts about rare diseases that you may not already know:

  • Rare diseases impact more people than AIDS and cancer combined
  • 95% of rare diseases do not have a single FDA-approved drug
  • Only 15% of  rare diseases have organizations or foundations providing support or driving research

There are already some highly important awareness events dedicated to specific rare diseases, such as World Down Syndrome Day, World Hemophilia Day, Becker Muscular Dystrophy Awareness Week, Rett Syndrome Awareness Month and World Cerebral Palsy Day.

What’s great about Rare Disease Day is that it focuses on the whole spectrum of rare diseases, and hopefully will prompt increased advocacy and better representation for all rare disorders. EURORDIS has an objective for the World Health Organization to recognize the last day of February as the official Rare Disease Day and to raise increasing awareness for Rare Diseases worldwide.

Over the years this event has grown massively, with hundreds of patient organizations planning awareness-raising activities. Last year over 84 countries participated in Rare Disease Day, and this year even more are expected. To find out what events are going on in your location you can visit the Rare Disease Day global events page.

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The BioMed Central team wearing blue gene ribbons to support Rare Disease Day.

At BioMed Central we’ve been organizing social fundraising events to show our support to the cause and community, raising money for Global Genes (the leading rare disease patient advocacy organization whose mission is To Eliminate the Challenges of Rare Disease).

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BioMed Central pub quiz raising funds for Global Genes.
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Congratulations to the pub quiz winners!

Since rare diseases are often so under-reported, and by their nature research is scarce in comparison to that of common diseases, OJRD specializes in publishing high-impact comprehensive reviews that educate the rare disease community (including health professionals, carers, policy makers, foundations, advocates, industry and families of rare disease patients) about specific diseases. To show OJRD’s support for Rare Disease Day, we have collated a selection of highly accessed Reviews from 2014.

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