Information on Krabbes Disease

Krabbe disease is a very rare genetic disease that affects the growth of the myelin sheath surrounding the nerves. It is most commonly diagnosed in infants, and while there are treatments available to ease the symptoms of Krabbe disease, there is no known cure. Particularly when diagnosed in infants, Krabbe disease is often fatal. It occurs in approximately one out of every 100,000 births in the United States.

Biology

• Krabbe disease occurs as a result of a genetic mutation, either spontaneous or inherited. The affected gene, called GALC, controls the body's production of galactocerebrosidase, an enzyme that manages the growth of the fatty myelin sheath surrounding the nerves of the body. Myelin is a crucial component of the body's nervous system, protecting neurons and ensuring the accurate transmission of information between nerve cells.
  When the body's galactocerebrosidase is faulty, the myelin in the body self-destructs, causing a host of difficulties.

Symptoms

• About 90 percent of Krabbe disease diagnoses occur in newborns. Krabbe disease is almost always immediately apparent, and symptoms include difficulty feeding, unexplained fussiness, seizures and spasms, and gradual loss of sight, hearing and muscle control.
  Krabbe disease can also develop in adolescence. Symptoms of Krabbe disease in older children often begin with sudden vision problems, and include difficultlies with walking and fine motor skills.

Treatments

• Several experimental treatments may help alleviate the symptoms of Krabbe disease, such as bone marrow and cord blood transplants. However, both of these treatments can be risky and are not always effective.
  Krabbe disease treatments vary between patients and usually are administered to alleviate symptoms. Physical and occupational therapy can help maintain healthy muscle tone and teach patients how to achieve everyday tasks, such as brushing their teeth and putting on shoes.
  Drugs are sometimes prescribed to minimize seizures and episodes of vomiting.

Prognosis

• Sadly, infantile Krabbe disease is usually fatal before the child reaches the age of two, and the average lifespan for a newborn with Krabbe disease is a mere 13 months. Children and adolescents diagnosed with Krabbe disease can live up to 50 years old or longer, depending on the severity of the disease.

Support Groups

• Krabbe disease is difficult for patients and families alike, and there are several organizations--both on national and international levels--that have been founded to help cope the a Krabbe disease diagnosis, including The United Leukodystrophy Foundation, Family Village and the National Organization for Rare Disorders (see Resources below).