We don’t usually link to blogs that focus on Baylor University’s athletic teams, but today is as good as any. The manager of the Our Daily Bears blog, Mark C. Moore, wrote a heartrending post on his young son’s diagnosis and prognosis with spinal muscular atrophy. Shortly after William was born, a friend remarked that he looked like a ragdoll in his mother’s arms; the comment stuck with Mark and Beth, his wife. They called a doctor, who was able to see them on October 4, 2011; that was the beginning of a journey that led to teams of doctors at both Children’s Medical Center (in Dallas) and UT Southwestern. The 1-year anniversary was the occasion for the blog post.
The SMA Foundation notes that the condition affects between 10,000 and 25,000 adults and children in the U.S., making it one of the most common rare diseases. And there is hope on the horizon.
“From the literature I devour in my spare time, researchers understand fairly well what has to be done to ‘cure’ SMA, they just haven’t figured out exactly how to do it yet,” Moore wrote. “Still, it feels like there is finally light at the end of the tunnel for the thousands of families affected by this disease (condition/syndrome, whatever you want to call it), we just have to reach it. That’s why the word ‘incurable’ rankles me like you would not believe. William’s condition is not incurable, because that connotes impossibility and forlorn hope. It is uncured.”
According to SMA Foundation, there are three therapies in clinical trials (including one in Phase III) with seven more in active development. But make no mistake, there remains distance between today’s science and a cure. We’re not there yet.
Despite its status as a rare disease, there are no shortage of groups whose primary concern is SMA: SMA Foundation, Families of SMA, Fight SMA, Miracle for Madison and Friends, The Sophia’s Cure Foundation, The Gwendolyn Strong Foundation, and The Hope and Light Foundation. A few, like SMA Foundation, Families of SMA and Sophia’s Cure Foundation fund research as well. Further research funding comes from the Muscular Dystrophy Association, which is a Research!America member.
Based on the information available on their websites, these groups fund research on SMA to the tune of $16.25 million per year. (That’s based on the numbers published by those groups, though not all of them are very recent or thoroughly spelled out.
The National Institutes of Health, meanwhile, funded $18.5 million worth of SMA research in FY11.
That’s only one of the reasons that the continuing threat of budget cuts and sequestration — across-the-board cuts scheduled to take place in January 2013 — is so problematic. Given what we could find, the NIH funds 53% of SMA research in this country. Declines in that funding, even slight declines, put more burden on philanthropy, which may or may not have received sufficient contributions to maintain the momentum toward a cure. Those 10,000 to 25,000 patients are left waiting for a cure.
And remember, that’s just one condition. The NIH reports it funds research on 233 diseases and conditions, from giants like cancer and Alzheimer’s disease to rare diseases like SMA.
If the NIH budget is slashed, what progress will we lose? How quickly will momentum be halted?
October 3, 2012
The first Presidential debate was a missed opportunity for the candidates to outline a vision for putting research and innovation to work to improve health and strengthen the economy. Fleeting references to science and research failed to give voters confidence in this regard. We learned some things in this debate, but we are still — many of us literally — dying to know what either candidate will do to assure that research for health will be a priority for this nation. Without medical progress, driven by research and innovation, there will be no chance of controlling health care costs or assuring our nation’s continued leadership in the life sciences. We strongly urge the candidates to respond to questions from Americans who are concerned about the impact of Alzheimer’s, Parkinson’s, cancer and other disabling diseases to our nation’s health and prosperity.
Diane Rehm; John F. Crowley; Dr. John Mendelsohn; Dr. Mark Rosenberg;and California Institute for Regenerative Medicine to Receive 2013 Research!America Advocacy Awards
WASHINGTON-October 2, 2012–Research!America’s 17th annual Advocacy Awards will convene leaders from government, academia, industry and health advocacy organizations to honor leading medical and health research advocates of our time. The event will take place on the evening of Wednesday, March 13, 2013, at the Andrew W. Mellon Auditorium in Washington, DC.
The 2013 Advocacy Award winners are Diane Rehm, author and host of WAMU 88.5 and NPR’s “The Diane Rehm Show;” John F. Crowley, patient advocate and inspirational entrepreneur, chairman and CEO of Amicus Therapeutics, Inc.; John Mendelsohn, M.D., director, Khalifa Institute for Personalized Cancer Therapy and former president at The University of Texas MD Anderson Cancer Center; Mark Rosenberg, M.D., president and CEO, The Task Force for Global Health; and California Institute for Regenerative Medicine (CIRM). A sixth Advocacy Award winner will be named by Research!America’s Board of Directors in December 2012.
“This year’s awardees embody the spirit of pioneers in advocacy, setting high standards for others to follow in achieving a greater awareness and appreciation for research to improve health,” said Mary Woolley, president and CEO of Research!America.”We applaud their leadership and tenacious dedication to informing and engaging the public.”
“The tireless efforts of these extraordinary individuals have brought hope to people affected by devastating diseases worldwide,” said Harry Johns, Research!America Board member, co-chair of the Advocacy Awards selection committee, and president and CEO of the Alzheimer’s Association “Their collective achievements have greatly contributed to medical progress and innovation in the U.S. and abroad.”
Diane Rehm, author and host of WAMU 88.5 and NPR’s “The Diane Rehm Show,” will be honored with Research!America’s 2013 Isadore Rosenfeld Award for Impact on Public Opinion for emphasizing the value of research and increasing the level of awareness among policy makers and the public of medical conditions such as traumatic brain injuries, Parkinson’s disease, multiple sclerosis and Alzheimer’s disease. Her show reaches millions of listeners around the world, contributing significantly to public understanding of science and health.
Patient advocate and inspirational entrepreneur John F. Crowley, chairman and CEO of Amicus Therapeutics, Inc., will receive Research!America’s 2013 Gordon and Llura Gund Leadership Award for his outstanding efforts to accelerate new treatments for Pompe disease and other genetic diseases. His dedication led to the discovery of a treatment for Pompe disease, saving the lives of his children, Megan and Patrick. Crowley’s remarkable story and perseverance inspired the movie Extraordinary Measures starring Harrison Ford and Brendan Fraser.
John Mendelsohn, M.D., director of the Khalifa Institute for Personalized Cancer Therapy at The University of Texas MD Anderson Cancer Center, will receive Research!America’s 2013 Geoffrey Beene Builders of Science Award for pioneering translational research that has provided the foundation for targeted cancer therapies and for his advocacy for increasing our nation’s support for biomedical research. His leadership of MD Anderson during an expansive period of growth, as well as his own groundbreaking discoveries, have transformed cancer treatment, benefiting thousands of patients worldwide.
Mark Rosenberg, M.D., president and CEO of The Task Force for Global Health, will be honored with Research!America’s 2013 Raymond and Beverly Sackler Award for Sustained National Leadership for advancing injury prevention and road safety, reframing the concept that road traffic crashes are not accidents. His advocacy has increased funding for research and programmatic interventions for injury control and improved traffic safety not only in the U.S. but also in many developing countries.
The California Institute for Regenerative Medicine (CIRM) will receive Research!America’s 2013 Paul G. Rogers Distinguished Organization Advocacy Award for its role in accelerating stem cell research and the potential development of a new generation of promising therapies for previously untreatable human disorders. CIRM-funded discoveries have laid the foundation for a new industry in California and attracted top-level stem cell researchers to the state. Jonathan Thomas, PhD, JD, and chairman of CIRM’s Independent Citizens Oversight Committee, will accept the award on behalf of the organization.
The annual Research!America Advocacy Awards program was established by the Board of Directors in 1996 to honor outstanding advocates for medical, health and scientific research. Recognized individuals and organizations are those whose leadership efforts have been notably effective in advancing our nation’s commitment to research.
Research!America is the nation’s largest nonprofit public education and advocacy alliance working to make research to improve health a higher national priority. Founded in 1989, Research!America is supported by member organizations that represent the voices of 125 million Americans. Visit www.researchamerica.org.