Emily Holtvluwer, mother of two children with spinal muscular atrophy (SMA), explains the importance of Rare Disease Day.
Rare Disease Day occurs on the last day of February and is designed to raise awareness for the 7000+ rare diseases that exist, including SMA.
SMA is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The absence of the SMN protein leads to cellular imbalances that lead to motor neuron deterioration.
As Ms. Hotvluwar explains, having people better informed about rare conditions like SMA often requires special days like Rare Disease Day to enhance that awareness.
To learn more about SMA, click here.