Rare Disease Day: Together, We Can Do More

Posted February 29th, 2012 by

All Around the World, People Are Observing Rare Disease Day Today

Today is the fifth annual observation of Rare Disease Day, an international event recognized in more than 50 countries.  (Learn about US activities here, including a day of lobbying on Capitol Hill for the ULTRA Act, which aims to stimulate the development of treatments for rare diseases.)

What’s a rare disease, you ask?  It’s a condition that affects less than 200,000 people in the US – or less than 1 in 2,000 people in Europe.  There are more than 7,000 such disorders (80% of which have identified genetic origins), and collectively, they affect an estimated 350 million people worldwide.  Yet because of the lower prevalence of the individual diseases, they often receive little attention.

The 2012 Rare Disease Day theme is “Solidarity,” highlighting the importance of collaboration and support among patients with rare diseases.  Despite the wide variability of symptoms, patients with rare diseases face many of the same challenges, which may include a difficult diagnosis process, isolation, high cost drugs (if they exist), lack of information and inequities in the availability of treatment and care.

At PatientsLikeMe, we are committed to bringing patients together and speeding up the pace of medical research.  That’s why we partnered with the R.A.R.E Project last November to find and connect one million patients with rare diseases.  “It’s terrifying to think you’re alone and manage your rare illness with a doctor who might not have ever seen another patient like you,” says PatientsLikeMe Co-Founder Jamie Heywood.  “We will change that.”

If you know anyone with a rare disease, please encourage them to join PatientsLikeMe and help create a well-defined patient registry for the benefit of both patients and researchers. Also, PatientsLikeMe members—with or without a rare disease—can show solidarity by following the R.A.R.E Project’s profile.


One Comment

  1. As an advocate for rare diseases, as well as having a rare disease myself, I would like to pass along some helpful information about an interesting company, The Rare Genomics Institute. The Rare Genomics Institute is a non-profit organization that focuses on helping patients and families with rare/orphan diseases that might benefit from genome sequencing. Rare Genomics Institute helps patients with gaining access to genome sequencing services, support, and funding. Washington University School of Medicine’s Genomics and Pathology Services and the Rare Genomics Institute are planning to award grants for the sequencing of 99 exomes to rare disease advocacy groups. The grants will be free of charge to the rare diseases community! Anyone interested, should contact The Rare Genomics Institute right away. Interested applicants should submit letters of interest by April 2, 2012. If you are interested, visit the web site for this program at the Rare Genomics Institute site: http://www.raregenomics.org/rare99x
    Mike Dayton

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