X-Linked Adrenoleukodystrophy is a disease that affects one in 17,000 boys in childhood and is usually misdiagnosed or goes undetected by medical professionals until the disease is so advanced that their chances for treatment or survival are minimal. This genetic disease is most often passed on from mothers to their boys while both mothers and fathers can pass it on to their daughters, who will be carriers. Women have a 50% chance of passing it on but fathers will always pass their X-chromosome to their girls and never to their sons. Without accurate diagnosis, ALD will continue to spread and mystify the medical professionals unfamiliar with the disease and its symptoms.
WHAT HAPPENS
The X-Chromosome is defective or mutated, which prevents the body from creating a protein that binds to the Very Long Chain Fatty Acids (VLCFA’s) in the body. This protein normally allows the VLCFA’s to enter the peroxisome where they are then broken down into smaller chains. With ALD, the VLCFA’s accumulate and this often leads to adrenal insufficiency and deterioration of the myelin sheath, causing rapid neurodegeneration. The Myelin sheath is the protective coating of the nerves, very much like rubber coating on electrical wiring. When the myelin deteriorates, the brains sensors basically short out. Messages sent to other parts of the body get lost in translation, so to speak.
One of the most common misdiagnosed symptoms of boys with ALD is ADD/ADHD (attention deficit disorder) when in actuality the information that was previously known vanishes.