Newborn screenings could also include the addition of two genetic and potentially deadly diseases. State Rep. Becky Ruth (R-Festus) is proposing next session that babies be screened for spinal muscular atrophy (SMA) and mucopolysaccharidosis II, a disease known as Hunter syndrome.
Hunter syndrome can affect a person’s appearance, mental and physical health and organ function. Spinal muscular atrophy, which is the leading genetic cause of death for infants, causes loss in physical strength and can make eating, breathing and walking more difficult.
Ruth says the earlier these genetic diseases are detected, the better the outcome.
“It gives families hope and it gives us a chance to save the lives of even more babies here in Missouri,” says Ruth.
About 2,000 people worldwide have Hunter syndrome, with approximately 500 of those in the U.S. There is no cure for Hunter syndrome, but Ruth says earlier discovery could enhance the lives or increase the lifespan of the children with the disease.
“Most often, with this disease it’s not recognized until the ages of two to four years old. By that time, the disease is already progressing, so early detection is actually vital here,” says Ruth. “Gene therapies can be started and it can lessen or completely reduce the regress some of the symptoms.”
A drug called Nusinersen could be approved by the FDA by April. Nusinersen would be the first drug approved by the FDA to help treat SMA.
Under Ruth’s measure, the additional screenings could be subject to annual state funding and would allow the Department of Health and Senior Services to increase its newborn screening fees to cover the additional costs.
The 2017 legislative session begins January 4.