Why does my baby need
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
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
Krabbe Newborn Screening
Early detection for the most agressive 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.
What is Krabbe?
The full name for Krabbe disease is Globoid Cell Leukodystrophy. Krabbe (Crab-a) disease is a rare, inherited disorder that affects the central and peripheral nervous systems.
Those who inherit the disease lack an important enzyme (GALC) the body needs to produce healthy myelin. Myelin, or white matter, is the protective covering of the nerve cells. It acts like insulation surrounding an electric wire. The absence of GALC enzyme leads to the rapid destruction of both the cells that make myelin and the myelin itself.
Krabbe disease has four types: early onset infantile, later onset infantile, adolescent, and adult. The type is determined by the age of onset of symptoms. A baby with a positive newborn screening result for Krabbe disease can fall into any one of these types. Or, the baby with a positive newborn screen result for Krabbe may not have any of these types of the disease, but may just be a carrier, which means they will not experience any symptoms.
For more information click here.
What if my child has
There are varying forms of Krabbe disease and it
is important that a diagnosis is made as soon as possible to ensure that
appropriate treatment is administered. The vast majority of infants with a
positive screen for Krabbe either do not have the most severe form of the
disease, or they are carriers.
For infants that are affected by the most severe form of the
disease, Early Onset Infantile Krabbe Disease, there is HOPE – through early
diagnosis, children who receive treatment (Cord Blood Transplant) before the disease is too far
progressed have the potential for a healthy life.
Your child’s doctor may recommend that your child be
medically followed. This is to ensure
that your child does not have a more rare form of the disease that could
potentially require treatment in the future.
Click here for more information about Krabbe Disease.
Click here or on the photo below for the
Krabbe Newborn Screening Brochure.
Para los españoles clic aquí.