As of last month, a newborn screening advisory committee from the Virginia Department of Health declined to add Krabbe disease to the conditions that doctors look for when a child is born. This is an unfortunate decision, as it is absolutely integral that treatment is administered as early as possible in a baby’s life. Without a stem cell transplant during the first few weeks after birth, the life expectancy of a child with Krabbe disease is just three years.
About Krabbe Disease
Krabbe disease, also called globoid cell leukodystrophy, is a rare disorder that causes the destruction of myelin in the brain and nervous system. It can range in severity between affected individuals, but it is typically fatal by age two. Symptoms include fever, difficulties feeding, vomiting, loss of head control, developmental delays, irritability, unexplained crying, muscle spasms, and declines in alertness. These effects are all the result of a mutated gene that is inherited in an autosomal recessive pattern. This gene is responsible for an enzyme called galactocerebrosidase (GALC), and when there is not enough of it, it allows fats to accumulate. This buildup then results in the destruction of myelin. Unfortunately, there is no cure for this condition. Treatment is symptomatic.
Screening for Krabbe Disease
The Grujicics, a family from Newport News, VA, have been fighting to add Krabbe disease to the newborn screening list since their son was born with the condition in 2018. They want to spread awareness for the disease as well and often speak of their experiences with Nikola, their son.
Nikola’s parents, Dragan and Lana, use a suction machine to remove the secretion and mucus from their son’s throat to ensure that he does not get pneumonia or another infection. In terms of food, they make slushies for Nikola’s feeding tube. They also let him swim as often as they can, as he absolutely loves the water. He’s also very cuddly, according to Dragan.
It is this journey with Nikola that inspired them to fight for the addition of Krabbe disease to newborn screening. Their story inspired a state representative, Jason Miyares, to introduce House Bill 97, which would do just that. While it made it through Virginia’s House and Senate very easily, the governor’s office required that it be amended. After changes were made, the committee still declined to pass the bill.
The Grujicics, along with other families affected by Krabbe disease, were devastated to hear about the outcome of the bill. Many were upset with the committee specifically, as they seemed to seek out obstacles for this bill. Despite this frustration and disappointment, all of these families and legislators are going to continue to fight to add this disease to newborn screening.
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