Fatty Acids C 24 C 26 example essay topic

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.? Ad reno refers to the adrenal glands. The word leukodystrophy derives from the Greek leuk o 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 C 24-C 26. Scientists have not yet identified this enzyme although there is some speculation.

The first suggested enzyme is fatty acyl CoA synthase and the second is the bi functional enzyme enol-CoA hydratase/3-hydroxy acyl-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 C 24-C 26.

These foods included peanut butter, pizza, and unpaved 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 C 24-C 26 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 Odones kept Lorenzo on the diet.

In June of 1984, Augusto and Michaela learned about another type of therapy in Boston. After packing up their sick little boy, they traveled to Boston for the immunosuppression therapy study. This kind of therapy involved massive doses of chemotherapy administered over a period of about three weeks. The side effects were that of any cancer patient receiving chemo treatments. These include nausea, hair loss, and weight gain or loss to name a few. At this point Lorenzo could still walk, talk and communicate, but that would all change.

Believing they had no other alternative, the Odones enrolled Lorenzo in this study as well (Universal). This study turned out to be useless and brutal to the patient. The researchers were in the dark. They were blindly searching for a cure or treatment that would work to stop the progression of ALD. Shortly after the Odones returned home from Boston they received a phone call from the President of the ALD Foundation. The Foundation is a support group for the parents and families of children with Adrenoleukodystrophy.

The group provides support, raises funds for research, and holds annual meetings. In July of 1984 the Odones traveled to the ALD Foundation meeting only to find that it wasn? t what they had hoped for. The president and his spouse were satisfied with the rate of progress that medical science was making, but the Odones were not. The Foundation also refused to discuss the findings of the diet trial informally among the parents (Universal). Disappointed once again, Augusto and Michaela returned home to D.C. As September came near Augusto made a decision. He was tired of letting the doctors and scientists control what happened to his son.

He did not want to be ignorant and blindly sign Lorenzo's care over to them. From that day forward he and Michaela spent hours at the library, reading and learning everything that they could about biochemistry, neurology, and ALD. Their goal was to understand Lorenzo's disease so that they could react appropriately. The first obstacle was to understand why the diet was not working. Augusto made an analogy of Lorenzo's body to a kitchen sink with a tap for what he eats and a tap for biosynthesis.

The paradox was why when the eating tap was shut off did the biosynthesis tap increase (Universal). Michaela found a logical explanation for this in a polish rat study of fatty acid manipulation. This article stated that biosynthesis of C 24-C 26 was inhibited in lab rats by loading them up with a different fatty acid, namely C 18 or Oleic acid (Universal). On November 10, 1984, at the First National ALD Symposium, scientists clarified the idea of feeding Oleic acid to ALD boys.

One scientist had taken actual ALD fibroblasts and cultured them with Oleic acid to find a fifty percent drop in C 24-C 26 levels (Universal). I feel that medical science was a major let down at this point in their research. Knowing that oleic acid could produce a significant drop in C 24-C 26 levels they did not even try to get a trial study. It took the bravery of one family to push them far enough. I can? t help but to wonder how many cures or therapies researchers overlook each year because of lack of funding and support.

Taking things into her own hands, Michaela called scores of chemical companies looking for oleic acid in a trygliceride form. She found it at a company called Proto chem Laboratory. On November 21, 1984, the Odones started Lorenzo on thirty grams of Oleic acid each day combined with the restricted diet. In one month his levels of C 24-C 26 dropped fifteen percent and in two months fifty percent.

By the third month however, the tests showed only a slight decrease and by the fourth month hardly any decrease at all. Augusto and Michaela were quite discouraged once again, but the experimental rats showed only a fifty percent drop as well (Universal). Augusto, being the simple minded person that he is, saw this as purely luck and observation, not understanding. Therefore he once again returned to the library to study in April of 1985, twelve months after Lorenzo's diagnosis. By now Lorenzo could not swallow on his own, he was tube fed, he could not speak or see, and he was almost completely paralyzed. Although Lorenzo was in world of isolation, Augusto kept studying.

He finally realized that the reason the oleic acid worked only half way was because the enzyme that synthesizes C 24-C 26 was the same enzyme that synthesizes fats lower on the chain. Because oleic acid is only C 18 it is to far down on the chain to keep the single enzyme busy. Therefore the next logical step is to find a substance that is pure C 22 or erucic acid. This acid is the chief component of rape seed oil, but this oil also contains C 24-C 26. Therefore a chemical company must extract C 24-C 26 from it. Prot chem Laboratory could not do this, in fact, they thought it was nearly impossible, but they did put the Odones in touch with a company in England, C roda Chemicals, that could do it.

It took almost a full year but eventually the pure erucic acid was bootlegged into the United States and into the hands of the Odones. This time Augusto and Michaela decided to test the oil on Deidre, Michaela's sister and carrier of ALD, before giving it to Lorenzo (Newsweek 99). This safeguard was due to the fact that Gus Nikolias had studies stating that erucic acid caused heart problems. The Odones risked the oil anyway because it is the major component of rape seed oil and is eaten in great quantities in India. India, consequently, has a significantly lower rate of heart disease that the United States. Furthermore, Dr. Nikolias's studies were done on rats and swine and not on humans.

Deidras levels of C 24-C 26 dropped to normal within one month and the weekly EKG's showed no problems, therefore Lorenzo was started on pure erucic acid along with the restricted diet on September 27, 1986. By December his levels were completely normal and by February 1987 he could once again swallow on his own (Universal). That summer, at the 1987 ALD Family Conference the parents of other children finally began to voice their opinions instead of treating the doctors like gods. They were in an uproar, especially when they found out that even though Lorenzo's levels were normal a trial wasn? t planned for another year.

It is in cases like these that the medical research time frame can be heartless. It is unfortunate that it has to be this way, but it takes people like the Odones to make difference. Presently Lorenzo is communicating by blinking his eyes for no and moving his fingers for yes. He can now turn his head from side to side and he has regained most of his eyesight. He will be seventeen at the end of May and he is still awaiting brain cell transplant surgery (1-800 #). Augusto and Michaela are active in the Myelin Project which is a team of scientists trying to regenerate myelin in human tissue.

So far it has been successful only in rats and dogs, but research looks promising (1-800 #). Today hundreds of boys are taking Lorenzo's Oil and remaining symptom free. This is encouraging and gives hope to many families. ALD boys are now able to grow and develop naturally without having to deal with such a relentless disease.

Augusto Odone received an Honorary Medical Degree for his part in the discovery of Lorenzo's Oil. Very many people are in his debt. 712? All we could do was help him live with dignity.?

RN. 1986 Sep. 55-57, 59, 61. Asbury, Arthur K.M.D. Ed. Diseases of th Nervous System Clinical Neurobiology.

2 vols. Philadelphia: Ardmore. 1986. Brett, Edward M. Ed. Paediatric Neurology.? Adrenal Leucodystrophy.?

London: 1983.154-157. Douglas, Leslie A. RN, MSN.? Adrenoleukodystrophy: a nursing challenge.? Journal of Pediatric Nursing. 1989 Jun. 206-210. Garg, Bhutan P.?

Evoked Response Studies in Patients With Adrenoleukodystrophy and Heterozygous Relatives.? Archives of Neurology. Vol. 40 1983 June 356-359. Johnson, William G.?

Adrenoleukodystrophy? Merit's textbook of Neurology. Lewis P. Rowland ed. Philadelphia: Lea & Feb iger. 1989.536-538. Lorenzo's Oil.

Videotape Universal Studios, Inc. 1992.2 hrs. 16 min.? Neurological Progress: Moser et al: Adrenoleukodystrophy.? Annals of Neurology 1984 Dec. 637-638.? They won? t let their son die.?

Newsweek. 1987 Nov. 16.98-100.1-800-8 myelin. The Myelin Project in Washington D.C.