Regina Phillips, mother of a young child diagnosed with spinal muscular atrophy (SMA), talks about the 4 month journey to get properly diagnosed with this rare neuromuscular disorder.
As Ms. Phillips explains, her son, Shane, was born looking very happy and healthy but the symptoms of SMA type 2 began to appear around the age of 6 months. Unfortunately, the gradual decline was difficult to associate with SMA and it was not until Shane was seen by a neuromuscular specialist at 10 months of age that a proper diagnosis was made.
Ms. Phillips continues to be highly involved in getting SMA to be part of the newborn screening panel in the state of New Jersey.
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.
To learn more about SMA and other neuromuscular disorders, click here.