House lawmaker honored for work on newborn screenings legislation

A Missouri House member has been recognized for her work to screen Missouri newborns for two life-threatening diseases.

Representative Becky Ruth received the “Abbey” RareVoice Award for State Advocacy from Rare Disease Legislative Advocates at a ceremony in Washington D.C., November 15, 2017. This was for her work on House Bill 66, the language of which was added to a larger bill and became law.

Representative Becky Ruth (R-Festus) sponsored legislation that became law this year that will expand newborn screenings to look for spinal muscular atrophy (SMA) and mycopolysaccharidosis II (MPS II), otherwise known as Hunter syndrome.  Missouri becomes the first state to offer newborn screenings for those conditions.

For her work, Rare Disease Legislative Advocates presented Ruth with the “Abbey” RareVoice Award for State Advocacy.  She received the award at a ceremony Wednesday in Washington, D.C.

“I’m very, very honored to receive this award.  I actually cried whenever I got the news that I had been chosen for the award,” Ruth said.  “I always go back to giving credit, though, to my grandson Brady.  He’s the reason why we have expanded newborn screening in our state.  He’s the reason why Missouri is actually number one when we look at newborn screening throughout our entire country – even internationally.”

Both genetic diseases can be fatal, but children can have better outcomes the earlier each are detected.  Ruth said that’s what is truly rewarding about sponsoring her legislation.

“Children with these diseases – they’re going to go through a whole myriad of diagnoses just trying to find out what’s wrong with them, and when they are finally diagnosed it’s pretty severe by that point.  These children will eventually die,” said Ruth.  “With the early intervention with the newborn screening, we’re going to actually be able to save their lives.  They’re going to be able to go on and live very healthy, normal lives.”

Ruth became involved in issues regarding newborn screenings after her grandson, Brady Alan Cunningham, was diagnosed with Krabbe.

Ruth credits Grace Grutter and Leslie Derrington, two mothers of children with SMA who testified during legislative hearings on her language, for helping push it to passage.

Ruth became interested in sponsoring her 2017 legislation after attending a conference on Krabbe, the genetic disease her grandson, Brady Alan Cunningham, had.  It was his condition that helped spur passage of House Bill 716 in 2009 which expanded newborn screenings for that and other conditions.  Ruth’s legislation this year expanded on what the 2009 bill accomplished.

Her bill means that screenings will be conducted for all Missouri newborns whose parents don’t opt out of them.  The bill gives until 2019 for screenings to start, but Ruth said there is a chance they will begin earlier.

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.

Representative Becky Ruth (photo; Tim Bommel, Missouri House Communications)
Representative Becky Ruth (photo; Tim Bommel, Missouri House Communications)

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.