Regina Philipps, mother of a three-year-old diagnosed with spinal muscular atrophy (SMA), talks about the difficulties in getting this rare disease part of the NBS panel in New Jersey.
As Ms. Philipps explains, everyone involved in the process is in favor of SMA being part of the NBS panel, but the legislative process takes a considerable amount of time and lobbying. Additionally, while the state legislature has passed the proposal to add SMA to the newborn screen panel, delays due to Covid-19 have led to this rare condition not being added to the panel.
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.