August is SMA Awareness Month
Spinal muscular atrophy (SMA) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat, or breathe. The most severe form of the disease—SMA type I—is also the most common, making SMA the leading genetic cause of death for infants.
SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Because individuals with SMA don’t produce this protein at high enough levels, those nerve cells cannot properly function and eventually die.
SMA can affect any race or gender. Though about 1 in 50 Americans (over 6 million in total) is a genetic carrier for the mutation that causes SMA, many have never heard of SMA until it affects their family.
While the dedicated SMA community works year round to raise funds for and awareness of SMA, those efforts take on a special meaning during August, which is SMA Awareness Month. Families host special events, partner up with local baseball teams for awareness events, and take part in the Annual SMA Candlelighting.
August is also a time to raise awareness of the many reasons for hope. In the last 15 years, the SMA drug pipeline has gone from two potential drugs in the beginning stages of preclinical discovery, to 18 ongoing drug programs today. Seven of those drugs are now being tested in clinical trials. While growing, aggressive investment is needed to continue moving these drugs forward, the progress thus far has invigorated efforts throughout the community.
The progress has also animated efforts within the medical community. Recent research, through a partnership between Cure SMA and Parent Project Muscular Dystrophy, showed that, of the SMA families who have not participated in clinical trials, the overwhelming majority did not participate because they did not know about the available opportunities. As more and more drugs move through the clinical trials process, it’s crucial that healthcare providers keep abreast of these clinical trials, and guide families through the complex decision of whether or not to participate.
"Our voice helps us reach other families who are struggling with the same disease, reach supporters who can help us raise money to help support research,” says the Camp family of their efforts to raise awareness of SMA, which affects their youngest child, Asher. Thanks to families like the Camps, the vibrant, hopeful, compassionate SMA community is at the center of all of these efforts.
Jill Jarecki, PhD, is the research director of Cure SMA, and coordinator of the Cure SMA Scientific Advisory Board. Under Jill’s leadership, Cure SMA has invested over $59 million in SMA research, and the Cure SMA community has grown to include over 110,000 supporters and families. Learn more at www.cureSMA.org.