Positive Screen for Krabbe Disease
If your child has just received a positive newborn screen for Krabbe Disease, call the Hunter’s Hope office at 716-667-1200 or email us at hope@huntershope.org and read our Krabbe NBS Family Guide.
If you are a medical professional caring for a child that has just received a positive newborn screen for Krabbe Disease, please see the Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.
Krabbe Newborn Screening
Early detection for the most aggressive form of Krabbe, Early Infantile Krabbe Disease (EIKD), is crucial. The symptoms of EIKD normally are not noticeable for the first weeks of life. For infants affected by the EIKD form of the disease, treatment must be administered as soon after birth as possible to avoid irreversible consequences. Therefore, if your child has been screened positive for Krabbe disease, it is critical that you follow up with your pediatrician immediately upon receiving the positive result.
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.
False Positive – 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.
Carrier – Carriers of Krabbe never show any symptoms of the disease, but could potentially pass the gene onto their future children.
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 Newborn Screening: A Family Guide
Download Krabbe Newborn Screening: A Family Guide for information and resources for families whose baby has a positive newborn screen for Krabbe Disease.
Click here to learn more
Clinical Practice Guideline for Infantile Krabbe Disease
It is essential that a child with a positive newborn screen receives further testing immediately. Early diagnosis with early treatment can save the baby’s life. Please read the guideline linked below.
Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
Leukodystrophy NBS Council
The Council is led by Dr. Kurtzberg and other experts in Newborn Screening.
Click here to learn more