Bill for 2017 would expand newborn screenings to include two genetic diseases

The legislature will be asked in 2017 to expand screenings of newborns in Missouri to look for two more life-threatening diseases.

Festus Republican Becky Ruth is proposing that infants be screened for spinal muscular atrophy (SMA) and mucopolysaccharidosis II (MPS II), otherwise known as Hunter syndrome.  Both are genetic diseases that can be fatal, but Ruth says the earlier they are caught, the better outcomes can be.

“It gives families hope and it gives us a chance to save the lives of even more babies here in Missouri,” said Ruth.

SMA results in a loss of physical strength that can include a lessened ability to walk, eat, or breathe.  It is the leading genetic cause of death for infants.

Hunter syndrome is caused by an enzyme deficiency that results in the buildup of harmful molecules that can affect a person’s appearance, mental development, organ function, and physical abilities.  An estimated 2,000 people have Hunter syndrome worldwide, with about 500 of those living in the U.S.

No drugs have been approved for SMA, but Ruth says one, nusinersen, could be approved by April.

      “The earlier [SMA] is detected the earlier [babies] can start therapy,” said Ruth.  “With this new drug that hopefully will get approved by the FDA this could be something that could affect newborn screening as well and could improve the outcome.”

There is no cure for Hunter syndrome, but Ruth says with it too, earlier detection could improve the lives or increase the lifespan of those children who have it.

“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,” said Ruth.  “Gene therapies can be started and it can lessen or completely reduce and regress some of the symptoms.”

In 2009 the legislature passed and the governor signed HB 716, The Brady Alan Cunningham Newborn Screening Act, named for Ruth’s grandson.  Ruth, not yet a legislator, testified for that bill.  She said Brady’s diagnosis was her introduction to certain rare diseases.

      “We have actually, to date, saved the life of about 120 children by expanding newborn screening,” said Ruth.  “We will be starting the [severe combined immunodeficiency] in January – testing that our legislature approved last year … Where some of this came from with SMA, they have developed an assay that kind of piggybacks with SCID to make it very, very reasonable and cost-effective and to make it possible for the testing.”

Ruth said that “piggybacking” means there should be little or no additional cost to screen for SMA, and she believes screening for Hunter syndrome can be done “very reasonably.”

The bill would make the additional screenings subject to annual funding by the state, and would allow the Department of Health and Senior Services to increase its newborn screening fees to pay for the additional tests.

Ruth said with the occurrence rate of SMA, it is something that should be tested for.  She said Missouri already tests for MPS I, so testing for MPS II is a “natural next step.”

Ruth’s bill is HB 66.  The 2017 session begins January 4.