What is Krabbe?
What is Krabbe Disease?
Krabbe disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbe disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe degeneration of mental and motor skills. Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least 10 different enzymes. Each of the leukodystrophies affects one (and only one) of these substances. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age six months, but can occur in adolescence or adulthood. Symptoms include irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, and blindness.
Is there any treatment?
Yes. Umbilical cord blood stem cell transplantation from unrelated donors is the most common and promising treatment for Krabbe patients that are diagnosed early and meet certain clinical assessment criteria. Because treatment outcomes are poor for symptomatic patients, it is critical that the disease be detected early. This is why newborn screening for Krabbe disease is so critical. Without detection through newborn screening, the point in time at which a patient shows the first detectable symptom, the patient is often considered too advanced for intervention therapy. Children detected at birth who undergo stem cell transplantation have phenomenal outcomes when compared to Krabbe patients that do not undergo transplantation treatment. Often, these children do not even require the use of wheelchairs, walkers or leg braces. Successfully transplanted patients are able to eat, walk, talk, and play. In some cases, the children are able to ride bicycles. Untreated children usually have little or no control of any of their peripheral muscles. These children are pump fed though a stomach port, are unable to talk and have difficulty swallowing their own saliva.
View a powerful video showing the capabilities of children treated by umbilical cord blood stem cell transplantation below:
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What is the prognosis?
If untreated, infantile Krabbe disease is generally fatal before age two. In a small percentage of infantile Krabbe cases the children live between 3-10 years of age. Untreated children have very little control of their muscles, and are not able to eat or talk. Prognosis is significantly better for children who receive umbilical cord blood stem cell transplants prior to disease onset. With stem cell transplantation, the patients are able to produce the necessary enzyme that is needed, resulting in normal myelination and the ability for controlled muscle movements. Because Krabbe transplantation therapy is still in infancy, only time will tell how long many of the transplanted children will live and at what quality of life.
Persons with juvenile or adult onset cases of Krabbe disease generally have a milder course of the disease and live significantly longer.