“Si precisas una mano,
recuerda que yo tengo dos”
Pitágoras de Samos

Acabo de descubrir una noticia que me ha dejado helada. Se trata de la historia de Juanma, un niño de 3 añitos de Almería que tiene la Enfermedad de Alexander.

Desde que se enteraron, su familia ha organizado una cruzada tratando de recaudar fondos para ayudar en la investigación que está llevando a cabo un científico estadounidense. Necesitan un millón de dólares, para que empiece a llevarse a cabo la fase experimental de la investigación. Y si hay algo que no tienen es tiempo…

La Enfermedad de Alexander es degenerativa y va, como si dijéramos, comiéndose la mielina del cerebro, de forma que éste empieza a dejar de poder enviar órdenes al resto de órganos del cuerpo. Como consecuencia, se van perdiendo las distintas facultades vitales de modo irreversible: la vista, el oído, las funciones motrices… hasta llegar a un estado vegetal. La esperanza de vida es muy pequeña.

¿Recordáis la película de “Lorenzo’s Oil: el aceite de la vida”? El desorden genético que se plantea en ella es síntoma de la enfermedad de Juanma. A mí esa película me marcó muchísimo, y recuerdo que cuando hace poco se murió Lorenzo Odone me dio muchísima pena. Sería maravilloso que Juanma tuviera, al menos, la misma suerte que Lorenzo, que desafió todo pronóstico y llegó hasta la edad de 30 años, pero ojalá llegue en mejores condiciones…

Si queréis conocer a Juanma, podéis visitar su web y hacer algún donativo:

www.ayudajuanma.es

También hay varios videos en youtube para conocer el caso. Éste es uno:

Y luega una se preocupa de auténticas chorradas…

ESTADO ACTUAL:
 conmovida

Stralcio tratto da ‘Il Giornale‘:
“…È a quel punto che Augusto Odone decide di fare da solo. Studia il caso del figlio come farebbe uno scienziato, si immerge nei testi scientifici, passa le notti setacciando i siti medici su Internet.”

Davvero un padre modello.
Talmente bravo da passare le notti setacciando Internet (che già qua…) a metà degli anni ‘80.

E bere con l’acqua, no?

“…my brother’s story also taught me about the loneliness of the visionary, the selfishness of our culture, and the arrogance that blinds many scientists.” – Christina Odone

Lorenzo Odone was a boy diagnosed at age 6 with the rare genetic disorder adrenoleukodystrophy (ALD), where an accumulation of fatty acids occurs in the body due to a missing transporter protein. This results in damage to the myelin sheaths that insulate the axons of nerve cells in the body, and signals can no longer be sent via these axons, resulting in increasing disability, such as losses of sight, hearing and movement.

Soon after his diagnosis, Lorenzo’s parents, Augusto and Michaela, were told by physicians that their son would soon be dead, and that there was nothing to be done.

But the Odones instead set about researching Lorenzo’s disease, and came upon a combination of acids (Lorenzo’s Oil) could stop the production of the fatty acids that were causing the problem. Once given to Lorenzo, the oils worked, and although they could not re-myelinate his already damaged cells, they greatly slowed the progression of the disease.

The Odones created an organization aimed at accelerating and supporting research into the repair of myelin and treatment of leukodystrophies and demyelinating disorders: The Myelin Project.

Lorenzo died just a couple of days ago, the 30th of May 2008, the day after his 30th birthday: 22 years later than the physicians predicted. And it was only in 2005 that research on the Odones’ patented Lorenzo’s Oil showed that young boys who had yet to display symptoms of ALD, who has the oils added to their diet, had a statistically lower chance of developing signs of the disease. And more research is being done.

It’s a lucky thing for Lorenzo that his parents persevered, and weren’t satisfied with the best answers that medical science had to offer. Today skeptical parents engage in similar acts of love and dedication to their children when they demand unbiased studies addressing the safety of the vaccine schedule, or they biomedically treat the medical problems borne by their autistic children, when physicians everywhere assure the public that yes, everything is safe, or no, nothing can be done, and anyone who says otherwise is a quack or a parent-in-denial. In spite of the “arrogance of scientists” that Lorenzo’s sister Christina Odone refers to in The Daily Mail, parents all over the world act against the advice of the medical establishment that said nothing could be done for Lorenzo.

Do site de Cinema & DVD do Terra:

Lorenzo Odone, cuja doença motivou um esforço sobre-humano por parte de seus pais para salvá-lo e inspirou o filme indicado ao Oscar “O Óleo de Lorenzo”, morreu aos 30 anos, informou a imprensa americana neste sábado.

Seu pai, Augusto Odone, afirmou ao Washington Post que Lorenzo morreu na última sexta-feira [30.05.2008], em sua casa de Virgínia por causa de uma pneumonia.

Odone padecia de adrenoleucodistrofia (ALD), uma doença que causa mutações genéticas que destroem o sistema neurológico. A enfermidade deriva normalmente de uma falha cerebral, mas Lorenzo viveu vinte anos a mais do que previram os médicos.

Augusto Odone explicou aos jornais que a morte de seu filho não foi conseqüência da doença e sim de uma pneumonia que pode ter resultado da inalação de um corpo estranho nos pulmões.

Leia mais na matéria do Terra ou em post de 2004 do blog Pensamentos de Uma Batata Transgênica.

Dies Lorenzo Odone, the ALD patient subject of “Lorenzo’s Oil” movie and Phil Collins’ “Lorenzo” song

“IT IS WITH GREAT SADNESS THAT WE ANNOUNCE THAT LORENZO ODONE PASSED AWAY MAY 30, 2008, IN HIS SLEEP AT HOME IN FAIRFAX, VA. WITH BOTH HIS FATHER AUGUSTO AND HIS LIFE LONG FRIEND OMOURI HASSANE AT HIS SIDE” ( The Myeline Project website )

 Lorenzo, a patient who suffered of Adrenoleukodistrophy (ALD) since the age of 5 years,   was the subject of “Lorenzo’s Oil” movie and the Phil Collins’song “Lorenzo”. According to AP, he died one day after his 30^th birthday.

ALD, the disease Lorenzo suffered, is a peroxisomal disease in which the beta-oxidation of Very Long Chain Fatty Acids (VLCFA) is affected. Dietetic limitations of VLCFA has not proved to be effective in decreasing the levels of VLFC in affected patients, so endogen production is the most important source of these acids in our body and as is usual in metabolism, an equilibrium exist between the production and the degradation of these compounds.

 While the beta oxidation of medium and long chain fatty acids occurs in mitochondria, the oxidation of VLCFA is initiated in the peroxisomes. In ALD there is lack of a functional ABC membrane protein, apparently necessary for the uptake of VLCFA by the peroxisomes. As a consequence, VLCFA, like hexacosanoic acid (C26:0), accumulate and damage the myelin affecting mainly the brain and the adrenal glands.

This short movie, from WashingtonDeceit  shows the histopathology of a brain of a patient with adrenoleukodistrophy:

Trying to find a cure for his son, Augusto and Michaela Odone (none of them related to the medical profession), studied related Biochemistry topics by themselves. 

During this process,  A. Odone read a paper describing that the same microsomal system that participates in the elongation of saturated fatty acids to form VLCFA, also elongates erucic acid (22:1 n-9) to form nervonic acid (24:1 n-9).

This information gave him the idea of using the biochemical mechanism of competition, that he had learned previously, for decreasing the endogenous formation of VLCFA by administrating erucic acid to his son.

The Odones developed an special combination of fats (a mixture of 4:1 glyceryl trioleate –glyceryl trierucate ) that helped his son to fight the disease. (Odone A, Odone M. Lorenzo’s oil: a new treatment for adrenoleukodystrophy. J Pediatr Neurosci. 1989; 5:55-61). The levels of VLCAF in Lorenzo’s blood began to decrease a few weeks after the “oil” was administered to him.

 Lorenzo did not die during the usual average of two years after the diagnosis of ALD. In fact, he lived until  yesterday, more than 20 years later than expected by his doctors.

The Odones also founded “The Myelin Project”, a foundation devoted to funding research to find a cure for demyelinizating diseases.

Nowadays Lorenzo’s Oil is used in the treatment of some patients suffering of ALD. FDA considers it an experimental drug yet.

More information about Lorenzo and ADL can be found in the Biochemistry at the movies page and the links that appears in it.

Lorenzo Odone, cuya enfermedad dio lugar a un firme esfuerzo por parte de sus padres para salvarlo e inspiró la película nominada al Oscar “Lorenzo’s Oil” (Un milagro para Lorenzo) falleció a la edad de 30 años, informaron medios estadounidenses este sábado.

Su padre, Augusto Odone, dijo al Washington Post que Lorenzo murió el viernes en su casa de Virginia debido a una neumonía.

Odone padecía adrenoleucodistrofia (ALD), una enfermedad que causa mutaciones genéticas que destruyen el sistema neurológico. La enfermedad deriva normalmente en una falla cerebral y muerte, pero Lorenzo vivió 20 años más de lo que predijeron los médicos.

Augusto Odone explicó al diario que la muerte de su hijo “no fue consecuencia de la enfermedad”, sino de una neumonía que pudo resultar de la inhalación de un cuerpo extraño en los pulmones.

Según el Post, Augusto Odone adjudicó los años de supervivencia de su hijo a un tratamiento derivado de aceite de oliva y colza que descubrió poco después de que Lorenzo fuese diagnosticado con la enfermedad, a fines de los 80.

El filme “Lorenzo’s Oil” describe el descubrimiento de su padre y los emotivos esfuerzos de Augusto y Michaela Odone –interpretados por Nick Nolte y Susan Sarandon, quien ganó un Oscar por su trabajo– para alargar la vida de su hijo.

Augusto Odone dijo que pretendía cremar los restos de su hijo y mezclar las cenizas con las de su esposa, fallecida en el 2000.

Fuente: Yahoo

Lorenzo Odone, que inspirou o filme “O Óleo de Lorenzo” (Lorenzo’s Oil, EUA, 1992), faleceu aos 30 anos. Aos seis anos, Lorenzo foi diagnosticado com uma doença rara. Seus pais, Michaela e Augusto Odone, que não eram médicos, iniciaram então uma pesquisa para encontrar a cura.

No cinema, eles foram vividos por Susan Sarandon e Nick Nolte. Vale a pena assistir ao filme, mas lembre-se de ter um lenço por perto.

Lorenzo Odone viveu 20 anos a mais do que os médicos haviam previsto.

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