A problem internally with any organization tends to be around communication. We all end up becoming specialists in our “silos” and never really tune in to what our colleagues are working on, even if peripherally their work impacts our own. The rare disease community often feels the same, with corporations and foundations taking on very intimate and personal missions to support people we (and they) love and care about; always asking the same people and groups for help, but rarely taking time to step back and look in at the work we’re doing collectively to see how we can more effectively help each other. The Children’s Rare Disease Network (CRDN) is taking great strides in connecting individuals, families, and organizations of every kind in an effort to better connect the great work that we’re all doing. As a part of that effort, MarbleRoad and CRDN have decided to collaborate and syndicate the MarbleRoad blog within the CRDN Policy/Advocacy blog.
So, allow me to take a few moments to explain who/what MarbleRoad is… I started the MarbleRoad blog in April 2009 to discuss rare disease [and other public health] issues, community health center issues, and other conversations related to volunteerism and national service. In just over a year, the blog has welcomed more than 8,000 visits. As a result, I have been working on expanding MarbleRoad beyond simply providing commentary and dialogue, but also to provide direct financial support for individuals and families impacted by a rare disease diagnosis and community health center patients who seek specialty care services not provided by their primary care provider. Fulfilling this mission is still a long way away, however, in the meantime, I will engage with you weekly on the MarbleRoad and CRDN blogs regarding rare disease issues.
Let us take a look at what is happening right now. Last week Emil Kakkis of Kakkis EveryLife Foundation shared an advocacy update regarding:

the push to support $10 million appropriations for a specific rare disease review division at the Food and Drug Administration (FDA)… Moreover, thanks to your support, Senator Kohl (D-WI) (the Chair of the Appropriations Subcommittee) has agreed to Senator Brownback’s (R-KS) request to hold a hearing on rare disease regulatory issues in June. Senator Brownback is very interested in doing something important for rare disease patients and we should help support that goal in his last year in the Senate.

Along those lines, Federal health reform legislation sets forth that there will be a new non-profit established to be known as the “Patient-Centered Outcomes Research Institute”. Within that Institute there will be an “(iii) EXPERT ADVISORY PANEL FOR RARE DISEASE- In the case of a research study for rare disease, the Institute shall appoint an expert advisory panel for purposes of assisting in the design of the research study and determining the relative value and feasibility of conducting the research study.” Funding for the Institute will be through a new Trust Fund, with money transferred over from the Federal Hospital Insurance Trust Fund and the Federal Supplementary Medical Insurance Trust Fund at the following levels:

(A) For fiscal year 2010, $10,000,000.
(B) For fiscal year 2011, $50,000,000.
(C) For fiscal year 2012, $150,000,000.
(D) For fiscal year 2013, net revenues received from fees on health insurance plus $150,000,000
(E) For fiscal year 2014-2019, net revenues from fees plus $150,000,000.
I would love to hear about the individual legislative efforts you are working on, as there may be potential for us to collaborate somewhere down the line on a comprehensive package, and at the very least for now to collect information that may be shared at hearings in the future. In accordance with Section 4(n) of the Orphan Drug Amendments of 1985, the Department of Health and Human Services reported to Congress in 1989 the final report of the National Commission on Orphan Diseases. In that time there were several hearings held, and the report ultimately recommended that the Office of Rare Disease Research be formed (which was mentioned there as a “Central Office of Orphan and Rare Diseases”).  Hearings do work; there are opportunities here and now for the rare disease community to come together. I need to know what you all are working on. As an example, I shared on the MarbleRoad blog in February via a guest post from Heather Long who lost her son to an undiagnosed disorder:

So, I came up with the idea for an Undiagnosed Disease Registry. I thought that if we could have other disease registries, such as SEER registries for Cancer, why not one devoted to undiagnosed cases? I first proposed the idea to my State Representative. H.B. 2294: Texas Undiagnosed Reporting Act was proposed by State Representative Dan Gattis during the recent Texas Legislative Session. However, the bill did not get passed. Not putting all my eggs in one basket, I also contacted my U.S. Representative John Carter. In May of 2009, Representative Carter proposed H.R. 2538: The Charles August “CAL” Long Undiagnosed Diseases Registry Act of 2009. If passed, this legislation would require the CDC to create a National Undiagnosed Diseases Registry. Right now H.R. 2538, the CAL Registry, is sitting with the House Committee on Energy and Commerce. The bill has five co-sponsors and Rep. Carter’s office is actively recruiting others.

We need to find ways to better collaborate; bring our efforts, thoughts, dreams and ambitions together. We need to keep an eye on insurance coverage, as Medicaid expands and new exchanges are formed, as pre-existing conditions are no longer a concern, etc. I do not have all the answers, and my blog posts will not be perfect in the content they share with you, but I do hope to achieve some small goals: generating useful and valuable dialogue, bringing awareness to your experiences, and ultimately leading to improved quality of life for you and me and anyone who has ever felt pain (physical or emotional).
Howard Liebers
Email: howard @ marbleroad.org
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