When I was pregnant with Kyra I found a pregnancy community online. All of us (there were about 10-15 of us that communicated regularly) on there were due to have our babies in August of '08. It was a great way for me to connect with other women, especially since we were so alone down in Oklahoma. I have maintained friendships with a handful of the women even though I no longer frequent the message board. One of the women, Rita, gave birth to this sweet little boy, Eli, one year ago today. Unfortunately he passed away on January 14th from a genetic disorder called Spinal Muscular Atrophy (SMA).
A few facts about SMA:
Spinal Muscular Atrophy kills more babies than any other genetic disease.
SMA is incurable, untreatable, fatal, and underfunded.
The gene is carried by seven million potential parents, most unknowingly.
SMA is an autosomal recessive neurodegenerative disease characterized by the dramatic loss of spinal motor neurons, resulting in muscle weakness, atrophy, and in the worst cases, the loss of ability to swallow and breathe. The mind remains unaffected, while the muscles waste away.
SMA presents in a broad clinical spectrum and is classified into three types based on disease severity: type I, type II, and type III. Approximately 65% of all new SMA patients are type I severe or type II.
SMA occurs when a vital gene ("survivor motor neuron" gene or "SMN") is deleted or mutated, preventing the creation of a protein necessary for muscle strength. A second, nearly identical copy gene, SMN2, is present in all SMA patients.
SMA disease severity correlates inversely with increased SMN2 gene copy number.
