Congress steps up fight against rare diseases

Congress did something amazing last month and almost no one in the media is talking about it. The powerful House Energy & Commerce Committee, which has jurisdiction over a variety of issues including healthcare, passed a bill that could help millions of patients. And they did it in a bipartisan way.

The bill, now called the 21^st Century Cures Act, was the culmination of an effort led by Reps. Upton (R-Mich.) and DeGette (D-Colo.). It passed with unanimous support out of committee, which is no small feat in an era of seemingly endless partisanship. The bill will soon head to the House floor for a vote.

{mosads}The bill itself contains a wide variety of provisions that are top priorities for patients, especially patients in the rare disease community, whom we represent. There are over 7,000 rare diseases, which collectively affect 30 million Americans, about 10 percent of the U.S. population. Sadly, 95 percent of rare diseases have no FDA-approved treatments. Why? Because our nation’s health agencies remain underfunded and small patient populations typically do not attract investment from the private sector.  In short, patients with rare diseases have been chronically underserved by the U.S. health system at every turn.

But 21^st Century Cures can help fix this by providing funding for the Food and Drug Administration (FDA) and the National Institutes of Health (NIH) and putting in place new incentives to foster innovation. In doing so, this legislation could help ensure that all patients, regardless of disease prevalence, have the opportunity to obtain treatment.

One of us has a husband and two daughters suffering from a rare disease called mast cell activation disorder, an immune system disease that can result in debilitating and potentially life-threatening symptoms.  We have been fortunate to live in DC and have access to doctors and researchers, but even so, the challenges we have faced are daunting and forever life-changing. We live in constant of fear of a health disaster. Insurance companies routinely fail to reimburse. In essence, our family is constantly walking through a field of health and financial landmines. And we need Congress’s help. This historic legislation is the best opportunity for treatment which brings hope to millions of patients and families like mine.   

Looking at this from the lens of a physician and drug developer, we’ve observed firsthand the difficulty in developing drugs for rare disease patients.  Researchers know more than ever about rare diseases, but that knowledge desperately needs to be translated into life-saving therapies. Patients, and their loved ones, simply cannot afford to wait any longer. We call on advocates everywhere to take a stand, contact their representatives in Congress today, and urge them to pass the 21^st Century Cures Act. Together, we can step-up the fight against rare diseases and in doing so, help ensure that no disease is too rare to deserve treatment.   

Beggatio (Washington, DC) is on the board of the Mastocytosis Society and is a rare disease patient advocate. Kakkis (Novato, CA), MD, PhD, is the president of the EveryLife Foundation for Rare Diseases and the CEO of Ultragenyx Inc.