MarbleRoad is a proud partner, along with more than 500 other organizations, for Rare Disease Day 2011. Rare Disease Day is an international advocacy day to bring widespread recognition of rare diseases as a global health challenge. The day is celebrated on the last day of February every year.
Rare Disease affects over 250 million people worldwide, and the largest percentage is children. There are over 7,000 rare diseases that have been identified all with very unique needs, but many with little to no support. In order to really help this community they need to be viewed as one, one community of millions, impacted by disease. Rare disease is not so rare, and the community is much more likely to garner the support, attention, and resources it needs if it is viewed as one.
This year, MarbleRoad is supporting at least two initiatives/events on Rare Disease Day:
- The Global Genes Project—The Global Genes Project™ exists to unify, support, build awareness and raise much needed funds for those affected by rare disease. The Global Genes Project™ campaign will broadly promote the needs of the rare disease community as a whole, engaging the general public, garnering corporate support under the unifying symbol of hope ~ the blue denim ribbon.
- Rare Disease Legislative Advocates Cocktail Reception and Movie Screening—Cocktail Reception & Private Screening of Extraordinary Measures with Special Guest John Crowley, the father who inspired the movie. . There will be a short education presentation about what is needed to bring lifesaving treatments to the millions of Americans affected by rare diseases. The event is hosted by Legislative Advocates, supported by Kakkis EveryLife Foundation, and sponsored by PhRMA.
Rare Spotlight – Kidney Disease
Much of MarbleRoad’s work thus far has been focused on rare kidney disease, such as renal cell carcinoma (kidney cancer), polycystic kidney disease, and Focal Segmental Glomerulosclerosis (FSGS). MarbleRoad has talked/worked with Regina Holliday, an artist/advocate who lost her husband to kidney cancer; e-Patient Dave DeBronkart, a survivor of Stage IV kidney cancer; Julie Gidion-Smith, a skilled photographer, organ donor/recipient and FSGS survivor; and many others to promote education and awareness of rare disease and complex illness.
This weekend, MarbleRoad attended the National Kidney Foundation Serving the National Capital Area’s 22nd Annual Casino Night. The mission of the NKF Serving the National Capital Area (NKF/NCA) is to prevent kidney and urinary tract diseases, improve the health and well-being of individuals and families affected by these diseases, and increase the availability of all organs for transplantation. The Foundation provides funding for medical research, patient and community services, professional and public education, and organ donation programs.
Stay tuned for World Kidney Day 2011 on March 10.
Rare Disease Publications Update
There has been some amazing activity recently in publications related to patient stories and pharmaceutical research and development:
- ORDR/GRDR CDEs: The Office of Rare Diseases Research (ORDR), within the National Institutes of Health (NIH), is seeking your input on the list of common data elements (CDEs) for patient data entry to be used in any rare disease registry in conjunction with the Global Rare Diseases Patient Registry (GRDR) being developed through the ORDR. CDEs are necessary to ensure that data are defined in the same way and use the same standards and vocabularies. The use of CDEs facilitates the standardization of data entry and allows for harmonization of sharing and exchange of information across registries, various analyses and studies.Your comments and suggestions are welcome. Please visit the following link to view the instructions on how to respond and the feedback form: https://bit.ly/fhsLhd. They welcome comments and suggestions through March 17, 2011.
- MarbleRoad board member Catherine Calhoun has published her story in a chapter in Uncommon Challenges; Shared Journeys—Stories of Love, Hope, and Community by Rare Disease Caregivers. Proceeds from the book will support the Calhoun Bone Pain Project (her son Billy’s Bone Research Fund), along with several other charities of each author’s affiliation. Order your copy on Amazon.com today!
- Orphan Drugs in Development for Rare Diseases: Pharmaceutical Research and Manufacturers of America (PhRMA) has released a new report that details 460 new medicines in clinical trials or under FDA review for Rare Diseases. As you know, special challenges are faced by those who fight against rare diseases. For example, it can be difficult to find enough patients for clinical trials and enough medical experts to both conduct clinical trials and sit on review boards. Balancing access to a medicine against safety issues can be particularly difficult when a rare disease, left untreated, has devastating or fatal consequences. Biopharmaceutical research is entering an exciting new era with a growing understanding of the genome. Scientific advances have given researchers new tools to explore more rare diseases, which are often more complex than common diseases.
Today, more than 2,900 new medicines are in development in the United States. Many of these potential new medicines will fail in clinical trials, but some may represent tomorrow’s new treatments. Bringing each new medicine to patients will require, on average, 10 to 15 years of testing and review. PhRMA publishes several reports that track the biopharmaceutical research pipeline for many diseases, including the leading causes of death among Americans—heart disease, cancer, and stroke.
- The Road to Diagnosis: Stories from Patients with Rare Diseases — In advance of Rare Disease Day, Inspire released Stories from 30 members of online communities on Inspire, https://bit.ly/g6iPZq (click link to download pdf).
“Today we have new tools, new technologies to help doctors find information about rare diseases, and to help families find medical care. Nonetheless, it is still hard, as you will see in the poignant stories that are shared below. And most of all, it is critically important to get all the families together. Just as there are support groups for the more common diseases in your local hospital, the people affected by rare diseases need each other at least as much, but it’s not so easy to call a meeting. People with rare diseases are thinly scattered across the United States, and across the world. They are kept apart by well-meant privacy rules, by geography, by country boundaries, and by language. Instead of meeting in the hospital library, we meet in online support groups, like the ones hosted at Inspire. We listen to each other’s stories, gain insights from others’ experiences, share the names of helpful doctors, diagnostic tests, and treatments. We bring each other hope.” — Joyce Graff, founder and Executive Director of the VHL Family Alliance, https://vhl.org).