Why does my baby need additional testing?
Newborn screening looks for enzyme levels that help detect
the risk of specific diseases, but does not diagnose diseases. Additional testing is necessary to better
understand why your baby received a positive screen. Just because your baby received a positive screen for Krabbe
does not mean that he/she has the disease.
It is possible that your child had a false positive, or that they are a
carrier of the disease.
If your child received a positive newborn screen for Krabbe disease, it is critical that he/she receives further testing immediately. It is critical to determine if your child has the Early Infantile form of the disease, because there is a treatment option (cord blood transplant) only if the disease is caught in time.
Krabbe confirmatory testing is done by drawing blood from the baby and sending this blood to a lab where they will analyze the blood and determine if your baby needs further testing, which may include MRIs, CT scans, EEGs, NCVs, BAERs, VERs, etc. Your baby's doctor will determine which tests are needed in order to make the most accurate diagnosis for your child.
The newborn screen is intentionally very sensitive so that
no affected babies will be missed. Therefore, most babies who have a positive
screen will not have the disease on confirmatory testing.
Your child could be a carrier of Krabbe disease. Carriers of Krabbe never show any symptoms of the disease, but could potentially pass the gene on to their future children.
should I talk to my baby’s doctor about?
Below are resources that you may find helpful in discussing
your child’s future care.
Symptoms of Krabbe Disease
American College of Medical Genetics Krabbe Action Sheet