Megan is the mother of two girls with SMA, a recessive genetic disease that is the number one killer of children under age two. The ‘probability of carrying SMA gene is 1 in 40, but most don’t know they are carriers. A test for the gene has been available for several years now. People don’t screen for the gene until it is too late.
SMA is a disease with a high potential for a cure because the problem gene has already been identified, and that the theory of how the motor neurons die is known. Compared to other neurological diseases, the fundamental research on SMA is more solid. Despite this, the level of funding for research into curing this disease has been disappointing. In addition, the treatment and diagnosis of this disease has fallen behind. Not only the public, but also physicians need to learn more about this subject.