Can you test for Krabbe disease?
In some states, a screening test for Krabbe disease is part of a standard set of assessments for newborns. The initial screening test measures GALC enzyme activity. If the enzyme activity is found to be low, follow-up GALC tests and genetic tests are conducted.
What states test babies for Krabbe?
Currently, New York, Missouri, Kentucky, Tennessee, Illinois, New Jersey, Ohio, Indiana, Pennsylvania, and Georgia are the only states that currently screen all newborns for Krabbe Disease.
What is supplemental newborn screening?
A: Additional screening, also known as supplemental screening, refers to additional testing that can be performed after participating in your state’s newborn screening program. While each state screens for many conditions, there are more conditions that can be detected at birth.
How do you get Krabbe disease?
Krabbe disease is caused when a person inherits two copies of an altered (mutated) gene — one copy from each parent. A gene provides a kind of blueprint for producing proteins. If there is an error in this blueprint, then the protein product may not work properly.
Can Krabbe disease be prevented?
How can Krabbe disease be prevented? If both parents carry the genetic defect that causes Krabbe disease, there’s a 25 percent chance that the child will inherit two copies of the defective gene and therefore have the disease. The only way to avoid the risk is if the carriers decide to not have children.
Can parents refuse newborn screening?
These screenings help detect harmful disorders that may cause your baby to stop growing, struggle with mental issues, lead to hearing loss or even lead to an early death. As a parent or guardian, you can refuse any of these screenings if they are against your religious beliefs or practices.
How rare is Krabbe?
Krabbe disease affects about 1 in 100,000 people in the United States. It is also known as globoid cell leukodystrophy.
How is newborn screening performed?
There are three parts to newborn screening: the blood test (or heel stickWhen the baby’s heel is pricked to collect a sample of blood for newborn screening); the hearing screen; and pulse oximetry.
How is newborn screening for Krabbe disease done?
Newborn screening for Krabbe Disease can happen along with routine newborn screening for other conditions during the first few days of life. N ewborn Krabbe Disease screening measures GALC enzyme levels and looks for changes in the GALC gene. This process uses the same dried blood spots already collected for screening of other disorders.
Are there any states that screen for Krabbe disease?
However, newborn screening of Krabbe disease can give those children a chance at life. The states that currently screen for Krabbe disease include: Louisiana, New Jersey, New Mexico, Ohio, and Pennsylvania These states have passed legislation to screen for Krabbe disease but the programs have yet to be implemented.
What happens if the Krabbe test is out of range?
If your baby’s newborn screening result for Krabbe was out of the normal range, your baby’s doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition.
Do you need to see a specialist for Krabbe?
Because Krabbe is a genetic condition, you may want to talk with a genetics specialist A healthcare providers who has special knowledge about a condition or a specific part of your child’s condition. Your child may need to see more than one specialist throughout growth and development..