Regina Philipps, mother of a three-year-old diagnosed with spinal muscular atrophy (SMA), discusses what she would like clinicians to talk about with parents of recently diagnosed SMA.
Ms. Philipps, who learned of the diagnosis when her child was 10 months old, states that she wishes clinicians would explain the condition is highly treatable and to give parents a positive and hopeful outlook upon receiving this news.
Spinal muscular atrophy (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, click here.