A friend of mine who also has SMA told me about a recent visit to a physician who specializes in neuromuscular disorders. This doctor told her that, contingent on the results of a genetic screening, she could receive an injection of a substance that stops the progression of SMA. She couldn’t tell me the name of the substance and a cursory Google search didn’t turn up anything definitive. My understanding of SMA is that it isn’t progressive in the same sense as, say, ALS is progressive. The motor neuron is shut off (or at least badly damaged) and the loss of signal causes muscles to atrophy, but that atrophy eventually plateaus. But I could be misinformed. My friend’s SMA is significantly less severe than mine and, if progression is an ongoing process, she would definitely benefit from such a treatment. I see myself as having reached that plateau back in my early twenties. As I get older, however, it might be difficult to distinguish progression from the usual creakiness that accompanies the aging process.
