Awareness

Awareness about SMA is scarce at every level and at every stage. Much of the proliferation of the disease stems from a lack of awareness. The majority of newly diagnosed families had no family history, no prior knowledge about the disease, nor any knowledge of the possibility of being a carrier. Less than 1 in every 35 people unknowingly carry the SMA causing gene. Given this high statistic, in 2008 the American College of Medical Genetics (ACMG) recommended SMA carrier screening be offered before conception or early in pregnancy to all people regardless of race or ethnicity. This is an important step, but their message has yet to be fully actualized.

There are also enormous discrepancies in awareness of current care options for SMA, especially the most common and most severe form, Type I. The lack of awareness on the part of the diagnosing neurological community and the treating pulmonary community may result in a more rapid progression of the disease and thus early death. There is currently no treatment to stop the progression of the disease, but in the 1990s doctors began using BiPAP, a non-invasive breathing support, accompanied by an intense respiratory management approach for patients with SMA with the result of lengthened life expectancy and lower rates of hospitalization. This approach, along with addressing nutritional needs via Gastrostomy Tube (G-tube) and Nissan Fundoplication, has now become the “Standard of Care” for patients with SMA. A multi-center study resulted in the publication of “The Consensus Statement for Standard of Care in Spinal Muscular Atrophy,” which was first published in the Journal of Child Neurology in 2007. This consensus statement gives clear care options, protocol, and guidelines, based on research, yet many doctors have yet to become aware of these options that not only lengthen life, but ease suffering.

GSF will create and support, at every level and at every stage, educational efforts to further awareness about SMA.