Mother of Two SMA Children Compares Their Diagnostic Journeys

Emily Holtvluwer, mother of two young children with spinal muscular atrophy (SMA), discusses the two different diagnostic journeys her kids went through to get a diagnosis.

Her oldest child was not diagnosed for several months after symptoms began to appear while her second child was diagnosed in utero.

As Ms. Hotvluwar explains, newborn screening for SMA would have helped her oldest daughter immensely in getting a diagnosis more quickly and receive treatment before many of her motor neurons had atrophied.

SMA is a rare inherited neuromuscular disorder due to low levels 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.

To learn more about SMA and other rare neurological conditions, go to checkrare.com/diseases/neurology-nervous-system-diseases/