Metachromatic Leukodystrophy

MLD is caused by a genetic defect that results in the lack of a lysosomal enzyme, Arylsulfatase A. This enzyme normally breaks down substances called sulfatides. The missing enzyme causes sulfatides to increase in brain, peripheral nerves, liver, and kidney. The accumulations are usually most obvious in the white matter of the central nervous system and the peripheral nerves. Sulfatides cause the breakdown of the membranes myelin sheath, the "insulator" around the body's nerves, resulting in permanent damage to the nerves. MLD is an autosomal (males and females carry the defect) recessive (if one of the genes in the pair is defective then you are a carrier and not affected by the defect) genetic disease affecting 1 in 100,000 people. Like Krabbe Disease, MLD has different onsets: late infantile, juvenile and adult. Late Infantile, the most common form of MLD, is characterized by normal development the first 6-18 months followed by a progressive regression that shows first in motor skills, perhaps never learning to walk, or showing a deterioration of balance. The regression will rapidly affect speech, overall mobility, and basic cognitive skills. Often the muscles will painfully cramp up (rigidity), and feeding requires a G-tube or J-tube directly to the digestive system. Paralysis and blindness are often reported with a prognosis of 1-2 years, although today's care often extends that period. Juvenile Onset is characterized by normal development with an onset between ages 8-14 (sometimes as young as 4 yrs). The first signs are changes in gait (balance/walking) or cognitive abilities and often a change in unexplainable behavioral outbursts presented by not being able to remember recent events, unable to follow simple sequences. The cognitive skills will continue to decline along with continence control over a period of 4-8 years. Speech ability also declines during this period. The regression is slower than in the late infantile form, but the pattern is similar ... affecting mobility, eating, speech, and cognitive skills. The only course of treatment today for MLD is a Cord Blood Transplant, which will give the child a chance to lead a normal life.

The Trimper Children:
In the summer of 2002, the Trimper family was leading a rather normal life. Jeff and Jane were teachers in Ohio with 3 healthy children. In October, 2002, all that changed.

After their son Max, 8, fell on his school’s playground last year, he was taken to the hospital and underwent a MRI, which showed positive for MLD. Doctors then tested the other two Trimper children - Maddie, 5 and Sam, 3 - and both were found to have the gene that carries the disease also. All three of their children were diagnosed with the same fatal disease.

After much soul-searching, the Trimpers decided on a stem cell transplantation for Max. Currently, he is undergoing physical, occupational and speech therapy following his January 2003 transplant. Maddie and Sam remain symptom free, but it is assumed that left untreated, they would begin displaying symptoms at around age 7. The Trimper’s plan on having them transplanted in the Fall of 2003.