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Krabbe Newborn Screening

Information for Parents whose baby screened Positive for Krabbe Disease

If a child you know has just received a positive newborn screen for Krabbe Disease, call the Hunter’s Hope office at 716-667-1200 or email kathleen@huntershope.org.

What is newborn screening?

A few drops of blood were taken from your baby’s heel and placed on a card that was sent to your state’s newborn screening lab. The results were then sent to your baby’s pediatrician and the hospital where they were born. Newborn screening looks for serious developmental, genetic, and metabolic disorders that would not otherwise be detected.  For these diseases, early detection is essential so that they may be treated before irreversible consequences occur. Newborn screening does not diagnose diseases, but identifies which babies need additional testing to confirm or rule out these diseases. Although these diseases are very rare, they are treatable if caught early.


NYMAC Baby

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.

 

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

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.

What information should I talk to my baby’s doctor about?

Below are resources that you may find helpful in discussing your child’s future care.

FAQs PDF

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 Krabbe?

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.

Krabbe NBS Brochure graphic


IMPORTANT SURVEY

If you are a parent whose child received a positive newborn screen for Krabbe disease, we would be most grateful if you would complete the survey below.  Your answers will greatly help other families.  Thank You!

Participate in this survey...


(The photo on this page is courtesy of www.photohome.com)

 


     
 
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