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?