Newborn screening bill advances through general assembly

The Brady Alan Cunningham Newborn Screening Act is advancing through Missouri General Assembly, becoming one step closer to becoming law.

The bill is named for Brady Alan Cunningham, son of Dustin Erik and Jessica Lynn Cunningham of Campbell, Mo., who passed away on April 6, 2009, at his home. Cunningham suffered from Krabbe Disease, a rare genetic disorder of the nervous system, resulting from a deficiency in an enzyme known as galactocerebrosidase (GALC). A defect in the GALC is what causes the disease.

Cunningham was born on April 16, 2008, and underwent all the standard newborn screenings. All results came back normal.

Shortly after birth, Cunningham's parents and the hospital staff noticed him shaking a lot. He was later diagnosed with an immature nervous system and his parents were told that it would disappear before he reached the age of four-months.

During the four month's the parents were waiting for the shaking to go away, Cunningham suffered from colds, ear infections, recurrent Thrush, as well as the shaking. He also began straightening out his body and arching his back, stiffening as if he were in a lot of pain, and crying, refusing to feed from his bottle.

Cunningham's parents made the decision to take him to the children's hospital at St. Louis, Mo., where, following several tests, doctors decided to test for a rare lysosomal disease. One week later, the results came back and the diagnosis was made that Cunningham had Krabbe Disease.

According to Senator Rob Mayer, the Brady Alan Cunningham Newborn Screening Act is close to a final vote in the Missouri House of Representatives.

"House Bill 716, which I advanced successfully in the Senate and appears to be close to a final positive vote in the Missouri House, would establish the Brady Alan Cunningham Newborn Screening Act," Mayer said. "The proposed legislation would add the potentially fatal metabolic disorders of Krabbe, Pompe, Gaucher, Neimann-Pick and Fabry disease to the list of 29 disorders currently included in newborn screening in Missouri.

"These rare and inherited diseases are among a group of diseases known as "lysosomal storage diseases, affecting mostly children in which a subunit with the body's cells - the lysosome - malfunctions. In some cases, such as Krabbe disease or infantile Pompe disease, the outcome is invariably fatal if treatment is not instituted promptly. In the case of Krabbe disease, treatment is only effective if provided prior to the onset of symptoms."

Mayer went on to say that approximately 4 million infants are born annually in the United States, with an estimated 150,000 born with serious birth defects.

"Newborn screening is vital for all infants' health and in some cases a family's only hope of identifying and treating a variety of very serious and life-threatening illnesses," Mayer continued. "The passage of House Bill 716 would bring hope and help to many Missouri families by facilitating early detection and increasing the chances for effective treatments so that these genetic diseases no longer bring certain and untimely death to those diagnosed."

Representative Tom Todd's is currently the chief sponsor of the bill in the Missouri House.

"A minimum of 10 children in Missouri are born each year with the five metabolic disorders addressed in House Bill 716," Todd said. "I am hoping insurance companies will be on board with us. I can't imagine testing for $50 to not outweigh the costs incurred once the disease is allowed to progress."

Todd added that it is important to remember that children will still be born with these diseases, with or without the screenings.

"[The infants] will continue to suffer and die if undiagnosed, but with early detection and effective treatment obtained, Krabbe disease no longer needs to bring death and despair to those who receive its diagnosis," Todd said.

If passed, the act will require the Department of Health and Senior Services to expand newborn screening requirements to include certain lysosomal storage diseases by July 1, 2010.