_ALD - Lorenzo Odone _
By: Anon
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,
Lorenzos 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 Childrens 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 its 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-Schilders disease because
ALD has properties of both (Brett, 154). Authors often used the term
Schilders disease as a general term for a group of diseases, including
sclerosis, leukodystrophies, and encephalitides, now known to be unrelated
(Brett 147). Symptoms of Addisons 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 Childrens Hospital knew of plans to start a protocol for a
restricted diet at the Institute of Childhood Diseases Because of this
doctors 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 Lorenzos brain
(Universal). Dr. Nikolias explained to them that these very long chain fatty
acids were accumulating in their sons 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, Lorenzos 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 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 wasnt 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
Lorenzos 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 Lorenzos
disease so that they could react appropriately The first obstacle was to
understand why the diet was not working. Augusto made an analogy of Lorenzos
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 C24-C26 was inhibited in lab rats by loading them up with a
different fatty acid, namely C18 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 C24-C26
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 C24-C26 levels they did not even try to get a trial study. It took the
bravery of one family to push them far enough. I cant 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 Protochem 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 C24-C26 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 Lorenzos 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 C24-C26 was the
same enzyme that synthesizes fats lower on the chain. Because oleic acid is
only C18 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 C22 or
erucic acid. This acid is the chief component of rape seed oil, but this oil
also contains C24-C26. Therefore a chemical company must extract C24-C26 from
it Protchem 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, Croda 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 Deidra, Michaelas 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'
studies were done on rats and swine and not on humans. Deidras levels of
C24-C26 dropped to normal within one month and the weekly EKGs 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 Lorenzos levels were normal a trial wasnt 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 Lorenzos 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 Lorenzos Oil. Very many people are in his debt.
_Bibliography _
Bibliography 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, Bhuwan P. Evoked
Response Studies in Patients With Adrenoleukodystrophy and Heterozygous
Relatives. Archives of Neurology. Vol. 40 1983 June 356-359. Johnson,
William G. Adrenoleukodystrophy Merrits textbook of Neurology. Lewis P.
Rowland ed. Philadelphia: Lea &Febiger 1989. 536-538. Lorenzos Oil.
Videotape Universal Studios, Inc. 1992. 2hrs. 16 min. Neurological Progress:
Moser et al: Adrenoleukodystrophy. Annals of Neurology 1984 Dec. 637-638.
They wont let their son die. Newsweek. 1987 Nov. 16. 98-100. 1-800-8myelin.
The Myelin Project in Washington D.C.
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