When Rare is Not Rare: Help Fight Rare Disease, Today and Everyday
February 28, 2011
Rare Disease Day was launched to bring the health challenges of rare disease to the global fore, and many events are taking place today to give people the opportunity to show their support for this cause. The Global Genes Project plays a key role in this effort, having signed up such groups as the National Society of Genetic Counselors, Pfizer, Medpedia, Illumina, various advocacy organizations, and many others.In the United States, rare disease initiatives are starting to make progress. The National Organization for Rare Disorders (NORD), which offers numerous resources for rare disease research and advocacy, has helped to create a congressional forum dedicated to rare diseases. (Ask your representative to participate!) The National Institutes of Health also has an Office of Rare Diseases Research to aid scientists and other people interested in obtaining research funding or information on rare diseases. And online tools and social media are helping individuals to build powerful support networks. At websites like Inspire and PatientsLikeMe, people can share their stories, connect to the latest news and research, and learn from others with similar experiences.A common theme that emerges from stories told by people with rare diseases is a desire for information. One of 23andMe’s core goals is to empower individuals through access to their genetic data. Most rare diseases are caused by alterations in a person’s genetic make-up — usually inherited, but sometimes unique to that individual. We are learning more every day about the genetic factors involved in personal health and we believe genetic information will only become more valuable over time. Sarcoma research community last year, and patients affected by sarcoma can join this initiative to take an active role in research. Customers without a rare disease can contribute to research as well. We plan to expand our efforts to additional rare diseases in the future.As Joyce Graff of the von Hippel-Lindau Family Alliance puts it, “while each disease is rare, the experience of having a rare disease is not rare.” Show your support for the millions of people affected by rare disease and learn more about ways to get involved.