In Memory of Eli
On January 14, 2009, our beautiful baby boy passed away from a genetic disorder called Spinal Muscular Atrophy. Like most parents who have a child with SMA, we had no idea what the disorder was until we were given the fatal diagnosis.
Through Eli's Eyes is a non-profit organization formed to honor our son and raise awareness of SMA. We will be asking everyone to sign petitions, contact your representatives in Congress, and let others know about this horrible killer. Fundraisers will be held to raise money for SMA research, obtain supplies for Houston's Ronald McDonald House, and help Memorial Hermann Children's Hospital provide toys to the little ones in their care.
What is 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.