Ed note: As of November 2016, Vivienne remains stable. On December 23, 2016, her test drug, to be marketed as SPINRAZA (TM), was approved by the Food and Drug Administration for all forms of SMA.
Spinal muscular atrophy (SMA), a condition affecting one in every 6,000 to 10,000 children, is caused by a defect in a gene called SMN1 — which stands for “survival of motor neuron.” The defect leaves children with too little functioning SMN protein to maintain their motor neurons, which begin wasting away. Muscle strength declines and children eventually develop difficulties eating and breathing.
For Vivienne, whose name means “to live,” that meant being slow to reach motor milestones like crawling, cruising and walking as a toddler. For her parents, it meant hearing that her life expectancy would not be normal.
But a new back-door approach seems to be helping Vivienne, now in first grade, at least thus far.
As it happens, most of us carry a backup gene for SMN1 — namely SMN2. …