“These children shouldn’t have to live out life in a wheelchair when they could run, walk, and play,” says Davis, a founder of the Texas SMA Newborn Screening Coalition.
Time is of the essence in treating SMA type 1. A single mutation in the SMN1 gene causes swift and irreversible damage to a baby’s motor neurons, which are located in the brain stem and spinal cord. This damage leads to muscle weakness, and children eventually develop trouble swallowing and breathing.
Davis’s son, Hunter, who is now six years old, had already lost all movement at two weeks of age. Hunter is alive thanks to Spinraza, a breakthrough SMA drug approved in December 2016. Children who have received the drug have made remarkable recoveries. But it must be given through a spinal tap once every four months, for life. It costs a whopping 0,000 for the first year of treatment and 5,000 every year after that..
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