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?
There is no cure for Krabbe disease. Results of a very small clinical trial of
patients with infantile Krabbe disease found that children who received
umbilical cord blood stem cells from unrelated donors prior to symptom onset
developed with little neurological impairment. Results also showed that disease
progression stabilized faster in patients who receive cord blood compared to
those who receive adult bone marrow. Bone marrow transplantation has been shown
to benefit mild cases early in the course of the disease. Generally, treatment
for the disorder is symptomatic and supportive. Physical therapy may help
maintain or increase muscle tone and circulation.
What is the prognosis?
Infantile Krabbe disease is generally fatal before age two. Prognosis may be
significantly better for children who receive umbilical cord blood stem cells
prior to disease onset or early bone marrow transplantation. Unfortunately,
Baby Reesa is not a candidate for this type of treatment. Persons with
juvenile- or adult-onset cases of Krabbe disease generally have a milder course
of the disease and live significantly longer.
Hunter's Hope Foundation
Find out how former NFL quarterback Jim Kelly and his wife Jill are working to
bring Universal Newborn Screening to every state to prevent rare diseases like
Krabbe.
