Krabbe Disease

The Disease of the Nervous System

By: Emily Decker

How It Happens:

Krabbes Disease is a disorder in the central nervous system which is rare. This will happen when the person's body does not make enough galactocerebroside beta-galactosidase (galactosylceramidase). The person's body needs this substance to make myelin which surrounds and protects nerve fibers. If the body does not have myelin, the brain cells will die and the body will not function right. This diesease is inherited, which means it runs in families. To get this disease, each of your parents must pass you a copy of the faulty GALC(galactosylceramidase)gene. This diesease is most common among people of Scandinavian descent.

Symptoms:

-Changes in the muscle tone from floppy to rigid

-Loss of hearing eventually leading to deafness

-Not being able to grow and develop

-Difficulty feeding

-Being sensitive to loud sounds

-Seizures at an early age

-Fevers

-Loss of vision leading to blindness

-Throwing up

-Vision problems will happen first

-Symptoms change depending on the person.

Support Groups:

There is a group called United Leukodystrophy Foundation: www.ulf.org

There are two forms:

  • -Earlier in life Krabbe disease appears in the first months of life. Most children with this form of the disease die before they reach age 2.

  • -Later in life Krabbe disease begins in late childhood or early adolescence.

  • Treatments:

    There is no specific treatment for Krabbe disease.

    Some people have had a bone marrow transplant in the early stages of the disease, but this treatment is dangerous.

    Life Expectency:

    Children who get Krabbe's Disease when they are an infant will usually die before 2. Children who develop this disease later in life will die between the ages of 2 through 7.

    Diagnosis:

    The doctor will have a physical exam, seeing if the patient has the signs of Krabbe Disease and then have more diagnostic tests done. The doctor will also take a blood and skin sample and send it to a lab. At the lab, a scientist will find out the activity of the GALC gene. If the activity is low, the patient might have Krabbe Disease.