A recent change in Georgia law will help parents and the Georgia Department of Public Health catch a rare genetic disorder in newborns before it’s too late.
House Bill 241 adds Krabbe disease to the list of genetic conditions for which the state can screen newborns at birth. The bill was sponsored by state Rep. Lee Hawkins, R-Gainesville, and signed into law by Gov. Nathan Deal on May 8.
The disease affects 1 in every 400,000 births in the United States, according to Dr. Joanne Kurtzberg, an expert on blood illnesses and cancers and a professor at Duke University.
It damages the brain and can only be passed on if both parents are carriers, and even then infants only have a 1 in 4 chance of being stricken with the disease.
“It doesn’t run in any particular population,” she said. “It’s not linked to a sex.”
Cove’s Law was named for a North Georgia child with the disease. Cove’s grandmother is a client of Hawkins, a Gainesville dentist, which is how he came to know about the genetic disorder.
He noted that a relative of the child, White County teacher Brooke Adams, also lobbied to get the bill through the Georgia legislature.
Adams “really drove the issue,” Hawkins said.
The law allows the Department of Public Health to offer screenings to new parents as part of the existing suite of illnesses already being screened. The test costs between $3 and $5, Hawkins told The Times, and isn’t mandatory.
“I looked at it as a way to save the lives of some of these babies. There is treatment available, but like any other type of situation similar to this it’s not 100 percent treatable,” he said. “... I approached it from a health care perspective … going back to giving the patient a choice — giving them the information.”
Krabbe disease in an insidious condition that surfaces in the first six months of a child’s life, but can only be prevented if stem cell treatment starts in the first 30 days after birth — before symptoms surface.
“Otherwise it doesn’t prevent the neurologic deterioration,” Kurtzberg said on Wednesday. “Newborn screening is the only way it can be picked up unless the parents have a family history.”
Kurtzberg and Duke University have performed 24 transplants on babies in the past 20 years. It is an enormous undertaking.
“If the screening test is positive, it has to be repeated and the baby has to be hunted down, so to speak. Usually that’s done through their pediatrician,” she said. “The parents have to hear what the worry is and the baby has to be brought back in to have another blood test to confirm whether or not the newborn screening test was correct. The family has to be educated about the disease, which is hard because their baby looks normal to them at that point.”
If parents go ahead with the treatment — which isn’t always covered by insurance, depending on the plan and the state — an infant has to go through 10 days of “very high-dose, potentially lethal chemotherapy,” Kurtzberg said, and then get the blood transplant taken from the donor’s spinal cord.
The process lasts about six months.
“To get all of that done before 30 days of age — it can be done, but everybody has to be on their game and all the connections have to be in place,” she added.
It has varying levels of success. About a third of children successfully treated end up developing normally, a third will have difficulty walking and another third will not be able to walk.
All infants successfully treated are cognitively normal, Kurtzberg said.
Krabbe disease took the life of Hunter Kelly, son of Buffalo Bills quarterback Jim Kelly, in 2005. The retired professional football player created Hunter’s Hope, an advocacy group dedicated to advancing research of the disease and helping spread public awareness.
Empowering the Department of Public Health to offer newborn screenings is a routine action for the Georgia legislature, but Hawkins’ bill offers new freedom to the department.
Public health “can negotiate with any laboratory,” Hawkins said. “... With this test, they can be sent out of state if it’s more affordable.”