“My Ailment” and Its Symptoms
Adrenoleukodystrophy (ALD) is an extremely rare inherited disease that is only passed on from the mother. ALD results in the build up of very-long-chain-fatty acids in tissues throughout the body. The tissues that are damaged the most are the myelin sheath in the central nervous system. The myelin sheath is a protective layer that surrounds the brain’s neurons; these neurons allow us to think and to control our muscles. ALD affects 1 out of every 20,000 people, mostly males, and typically develops in early childhood between the ages of four and ten. Initial symptoms of early ALD include emotional instability, followed by seizures, vomiting, fatigue, poor speech, increased skin pigmentation, coordination problems, ultimately leading to a swift decline towards a dormant and vegetative state until death. (http://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoleukodystrophy.htm)
The Main Cause(s) of “My Ailment”
ALD is inherited genetically from the mother. It can be tremendously difficult to diagnose women who are carriers because of the protective effect of the extra X chromosome. Some women can live their whole lives without ever knowing that they possess this disease because symptoms are never shown. This mutation of the X chromosome mainly affects males because they possess an X chromosome and a Y chromosome, while women are protected because they posses an extra X chromosome. (http://bethematch.org/for-patients-and-families/learning-about-your-disease/adrenoleukodystrophy-(ald)/). This doesn’t necessarily mean that women can’t be affected; it means that their symptoms are less severe. More specifically the ABCD1 gene is usually the exact gene that’s mutated. Encoded in this gene is the instruction for producing the protein that brings the very-long-chain-fatty-acids to where it is broken down. Without this gene working properly, this mutation prevents the body from being able to break down these strands of very-long-chain-fatty-acids, which causes a deadly amount of build up in the tissues. Build up of very-long-chain-fatty-acids appear in the nervous system, adrenal gland and testes. Experts believe that the build up of very-long-chain-fatty-acids may generate an inflammatory response of the brain, which possibly could be the reason the myelin becomes damaged (http://ghr.nlm.nih.gov/gene/ABCD1). The damage to the myelin sheath, the electric insulating material around the axon of a neuron, keeps the nerve cells from sending the essential signals throughout the body, brain and glands. This is crucial for the proper functioning of the nervous system. Without these signals traveling at high speeds or traveling at all, the nervous system and body can’t function. These signals allow us to think, breathe, and move, amongst other things. The nervous system is in command of the body’s voluntary and involuntary actions. With the nervous system impaired, the whole body and its functions become impaired.