(Назад)
(Cкачать работу)Ald – Lorenzo Odone Essay, Research Paper
ALD – Lorenzo Odone
Lorenzo Odone, at five years old, was an intelligent and lively child. He had command of three languages and had spent three years of his life in the Comoros Islands in East Africa. In December of 1983, five months before his sixth birthday his behavior began to change. At school he became disruptive and began to throw tantrums for apparently no reason at all. Concerned, Lorenzo?s teachers notified his parents, Augusto and Michaela Odone. They then had Lorenzo tested for a variety of things, including psychological and neurological explanations. Finally, Easter weekend of 1984, one month before his sixth birthday, the Washington Children?s Hospital gave a diagnosis. Lorenzo had a rare disease known as Adrenoleukodystrophy or ALD. Adrenoleukodystrophy is a disease that is an ?X-linked recessive disorder transmitted by a female carrier and affecting males only? (Douglas 206). In general, the disease is an inborn error that causes degeneration of the brain (Universal). Along with the damage caused to the brain there is insufficient adrenal function (Johnson 537). ALD usually reveals itself when the boy is between five and ten years of age although case studies document onset in children as young as three and as old as twelve. By examining the word Adrenoleukodystrophy it?s meaning is revealed. ?Adreno refers to the adrenal glands. The word leukodystrophy derives from the Greek leuko meaning white, and referring to the white matter of the nervous system, and dystrophy, which means imperfect growth or development? (Douglas 206). Some scientists and doctors refer to Adrenoleukodystrophy as Addison-Schilder?s disease because ALD has properties of both (Brett, 154). Authors often used the term Schilder?s disease as a general term for a group of diseases, including sclerosis, leukodystrophies, and encephalitides, now known to be unrelated (Brett 147). Symptoms of Addison?s disease include ?increased pigmentation, episodes of vomiting and catastrophic reactions to intercurrent infections? (Brett 154). The most significant cause of the brain degeneration is a defect in the enzyme that metabolizes very long chain fatty acids, in particular C24-C26. Scientists have not yet identified this enzyme although there is some speculation. The first suggested enzyme is fatty acyl CoA synthease and the second is the bifunctional enzyme enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase (Johnson 537). Because of the enzyme’s inability to metabolize these very long chain fatty acids they build up in the brain causing the demyelination of the nerves found there. As these fats corrode each nerve sheath the body loses more and more functions. The most prevalent neurological symptoms are dementia, motor disorder, paralysis, blindness and deafness (Brett 154). Ordinarily, the disease first presents itself as behavioral changes as it did with Lorenzo. Doctors told the Odones that all boys with Adrenoleukodystrophy die, usually within two years of diagnosis. They were told that there is no treatment, no therapy, and no hope. There was no mistake. Lorenzo showed the clinical signs of early dementia and the definitive sign of high levels of very long chain saturated and monounsaturated fats in his plasma and fibroblasts. I believe that this kind of advice, especially from the mouth of a physician, is totally uncalled for. In medical science there is always someone working on rare diseases. No matter how relentless or progressive Adrenoleukodystrophy tends to be, the doctor at Washington Children?s Hospital knew of plans to start a protocol for a restricted diet at the Institute of Childhood Diseases. Because of this doctor?s failure to inform the Odones about this trial they did not hear of it until May of 1984, one month after diagnosis. To an average person one month is not that long, but to parents of ALD boys one month is like eternity. During that time Lorenzo lost many of his fine motor skills. He fed himself as if he were a toddler and he needed assistance in dressing himself as well. His gait became increasingly unsteady, making it difficult for him to walk unassisted (Universal). Augusto Odone found out about the diet in May from a colleague at the World Bank where he is employed. This colleague gave him the name of Gus Nikolias, the leading expert on the family of diseases known as the leukodystrophies at the Institute of Childhood Diseases. Augusto and Michaela took Lorenzo to the institute to enter him in the diet trial. This diet restricted any types of food that contained the very long chain fatty acids C24-C26. These foods included peanut butter, pizza, and unpared fruit to name a few. The Odones were extremely skeptical at first because they did not understand how these nutritious foods could be so harmful to Lorenzo?s brain (Universal). Dr. Nikolias explained to them that these very long chain fatty acids were accumulating in their son?s brain because of the defective enzyme causing it, in a sense, to liquefy. The Odones then enrolled Lorenzo in the study. Shortly after May 29, Lorenzo?s sixth birthday, the results from his blood test showed that despite the fact that all very long chain fatty acids C24-C26 were eliminated from his diet, the levels of these fats had increased in his blood. Discouraged, Augusto called Dr. Nikolias who told him only that the trial had to run its full course and that it was too early to interpret any of the results (Johnson 536). I feel that Dr. Nikolias statements are valid, however, during the diet study scientists should have been looking for and researching modifications to the study as well as alternative therapies. Instead they only sat and waited for the diet restriction protocol to run its full course. Diseases like Adrenoleukodystrophy require a more aggressive approach because of the simple fact that they are so destructive in such a short time. Frustrated once again, the