Remembering 'Baby Brady': Unscreened disorder claims the life of a child

CAMPBELL, Mo. -- A rare genetic disease, which is not currently part of Missouri's newborn screening requirements, recently claimed the life of a Campbell infant, just 10 days before his first birthday.

Brady Alan Cunningham, son of Dustin Erik and Jessica Lynn Cunningham, passed away on April 6, 2009, at his home in Campbell. 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 being born, 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 Cunningham's family, doctors said early symptoms of Krabbe included hypertonicity, gastric reflux, irritability, and clasped thumbs, followed by blindness and deafness later. They were also told that in the infantile form, there is a rapid mental deterioration, which usually leads to death before the age of two.

According to research from the National Institute of Neurological Disorders and Strokes, if the screening had been part of the normal newborn screening process, Cunningham could have received a bone marrow transplant or cord blood transfusion, which could have stopped the progression of the disease, possibly enabling him to have a normal life. However, since it took so long to diagnose the disease, doctor's were unable to treat Cunningham's condition and gave him a life expectancy of 13-months.

In March 2009, Representative Tom Todd became the chief sponsor of House Bill 716, which was introduced in a Health Care Policy Committee meeting in late February.

The bill establishes the Brady Alan Cunningham Newborn Screening Act, which will require the Department of Health and Senior Services to expand newborn screening requirements to include certain lysosomal storage diseases by July 1, 2010.

According to Todd, the department will be authorized to increase the current fee associated with newborn screening tests in order to cover additional costs of the expanded newborn tests. Currently in Missouri, 67 disorders are screened, however, the bill will add five more disorders to the screening list.

Todd also said that all of Cunningham's suffering could have been avoided if Missouri had the proposed bill in effect.

"A minimum of 10 children in Missouri are born each year with the five metabolic disorders addressed in House Bill 716, referred to as lysosomal storage disorders," added Todd. These disorders can be 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 any clinical symptoms. The hope for children with these disorders and the hope for their families is newborn screening, according to the state representative.

"I am hoping insurance companies will be on board with us," Todd said. "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 be born with these diseases whether or not there is medical screening. "They 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.

On Thursday, April 2, four days prior to Cunningham's passing, the Missouri House of Representatives Rules Committee reported "Do Pass" for the bill, putting it one step closer to becoming a law and saving lives.