What is Krabbe Disease?
Krabbe disease is a rare genetic disorder that affects the central and peripheral nervous systems. It is part of a group of disorders known as Leukodystrophy which is characterized by the progressive degeneration of white matter in the brain.White matter refers to the myelin sheath which is critical for the nervous system to effectively transmit signals that drive our mental and physical ability.
Krabbe disease is also known as globoid cell leukodystrophy or galactosylceramide lipidosis as it is a result of a mutated galactosylceramidase (GALC) gene on chromosome 14. The GALC gene is the code in our DNA that instructs the body to produce a particular enzyme that breaks down certain fats in the brain and kidneys. In Krabbe, as a result of the deficient GALC gene, the body does not have sufficient levels of the enzyme required to break down toxins that damage the myelin sheath. As demyelination occurs, nerves in the brain lose their ability to effectively communicate and symptoms of the disease begin to present themselves.
Krabbe disease is fatal, and symptoms grow progressively worse over the course of the disease. Typically, the earlier the onset of the disease the more quickly it progresses. Children who are diagnosed with the early onset form have an average lifespan of two years. For those diagnosed with late or adult onset Krabbe the disease may progress more slowly, and lifespan can vary significantly.
Krabbe disease is not included in newborn screenings in most states, even though detecting it before symptoms develop could save lives. This is why The Jackson Project collaborates with many other organizations to make people aware of supplemental newborn screening and advocate for all states to include Krabbe disease, and other forms of leukodystrophy, into their newborn screenings.