Stacy Pokorny, a mother of a young girl with spinal muscular atrophy (SMA), gives advice to parents of children who have recently been diagnosed with the disease. 

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 in motor neurons that in turn causes the motor neuron endplates to not properly connect to muscle and the motor neurons die.

Stacy advises parents to remain hopeful, particularly in the beginning of the treatment process which is marked by confusion and worry. She also advises parents to join patient advocacy groups on social media to connect with other parents and remain up-to-date about upcoming fundraising events, clinical trials, and current available treatments.

To learn more about SMA and other musculoskeletal disorders, visit https://checkrare.com/diseases/musculoskeletal-diseases/