People living with rare conditions inspire my work every day. A few resources to check out:
Follow @RareDiseaseDay on Twitter or subscribe to my Rare Disease list
Read Wendy White’s post on e-patients.net: Rare Disease Day 2013: Help Spread Awareness
Read the Pew Research Center’s report featuring insights from people living with rare conditions: Peer-to-peer Healthcare
I think another useful resources is the NIH Office of Rare Diseases and Research. See http://rarediseases.info.nih.gov/AboutUs.aspx
Yes! Thank you, Marcia. And please, let’s keep those resources coming. There are so many stories, so many avenues for discovery when it comes to rare disease. I’d love to hear about others.
Already found an article worth adding:
“Families Push for New Ways to Research Rare Diseases” by Amy Dockser Marcus in the Wall Street Journal
http://online.wsj.com/article/SB10001424127887324432004578306364187833702.html
Thanks Susannah, great advertisement for such a worthy cause. I would like to vouch for the Office of Rare Diseases Research mentioned by Marcia Zorn above: See http://rarediseases.info.nih.gov/AboutUs.aspx
My mantra is “We’re ALL zebras (when you hear the sound of hoofbeats, think ZEBRAS, not horses; [google, if not familiar with this phrase]). That’s not to make light of the seriousness of rare diseases of significant physical, social and emotional impact, but to indicate that: 1) resources are now available to get to the bottom of many of the diseases (e.g. whole genome sequencing and/or exome sequencing) and 2) by understanding rare disease we facilitate our understanding of diseases not so rare that plague many other members of society.
Thanks, Bob, well said.