Living with Krabbe Disease

Krabbe disease is a condition that has a negative effect on the central nervous system. The disease is an inherited disorder that is believed to affect roughly one in every one hundred thousand people in the United States alone. While the condition can lay dormant for many years, it normally begins to manifest itself at around six months after birth, and can cause a wide range of health issues that can be fatal if not treated effectively.

The root cause of Krabbe disease is a lack of an essential enzyme known as galactocerebrosidase or GALC. This enzyme is essential for the creation and maintenance of myelin, a substance that protects the nerve fibers that make up the central nervous system. GALC also helps to limit the amount of galactolipids that can collect in the brain and impair the communication between the nervous system and that organ.

When Krabbe disease occurs early in life, there are a number of symptoms that begin to manifest immediately. With infants, they may have trouble feeding. Fits of crying for no apparent reason are frequent. The infant either loses or fails to develop control of head movements. Muscle tone either fails to develop or begins to decrease. The child may also begin to lose the senses of sight and hearing, as well as experience seizures. In general, the normal development process for the child is either seriously impaired or appears to reverse as the condition worsens.

When Krabbe disease is manifested later in life, many of the same symptoms become apparent. An adult may find that he or she begins to have problems with vision and hearing that were not present before. Tasks such as walking or holding a pencil become hard to accomplish. Extreme irritability may develop, along with sudden periods where the muscles stiffen for no apparent reason. This is often followed with a noticeable loss of muscle tone and control over body movements. In time, seizures will also develop.

The severity of the symptoms will vary from one individual to another. As a general rule, the symptoms are stronger and progress faster when the disease manifests itself earlier in life. Adults tend to have fewer symptoms and even those that do appear are less intensive.

Since there is no cure for Krabbe disease, the current goal is to manage the condition as much as possible. This often focuses on finding ways to compensate for the low levels of GALC. Bone marrow transplants sometimes help to trigger normal production of GALC and in turn control the symptoms of the disease. Transfusion of blood stem cells can also help, especially with infants and children. In some cases, the transfusion will help to stimulate normal production of GALC and thus restore a proper level of myelin to protect nerve fibers. However, treatments of this nature only serve to minimize symptoms and slightly slow down the overall deterioration of various motor functions.