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The story of a little boy named Lorenzo and the tenacity of his parents in the fight for his life was the basis for a moving film about love and sacrifice. Augusto Odone, the father of a boy who did not give up after doctors wrote off his son, died on October 25.
The boy is diagnosed with adrenoleukodystrophy (ALD), a fatal genetic disease that affects 1 in 18000 people. It affects boys and men the most. The disease destroys the myelin, which is the layer that protects the nerve cells in the brain. These cells enable us to think and control our muscles. The disease affects people all over the world, regardless of skin color, nationality or latitude.
The first symptoms of adrenoleukodystrophy
Usually the onset of the disease is rapid. Healthy, properly developing boys suddenly regress. They cause educational difficulties – they withdraw and have problems with concentration. When the disease also affects the brain, the symptoms of the disease worsen – there is blindness and deafness, convulsions, children lose muscle control, and dementia occurs.
The most debilitating form of ALD appears in childhood, usually between the ages of four and ten. Progressive disease leads to permanent disability (2 to 5 years after diagnosis) or death.
Often the first symptom of ALD is an epilepsy. Over time, ataxia appears, symptoms of adrenal insufficiency. In the late phase of the disease, progressive spastic paresis of the lower limbs, cerebellar ataxia, impaired sensation and sphincter disability occur.
Cause of ADL
ALD is caused by a genetic mutation related to the X chromosome. We all have two sex chromosomes. Women have two X chromosomes and men have X and Y chromosomes. Even if a woman inherits a defective X chromosome, she also has a second healthy one, which saves her from the effects of a genetic abnormality. Men do not have such a spare chromosome, so if they inherit the mutant X – they will develop ALD.
Forms of adrenoleukodystrophy
ALD progresses differently from person to person. It also has several forms that differ in the severity of symptoms and the progression of the disease itself.
The demyelinating form is the most common form, accounting for 45% of patients. all ALD cases. Patients develop inflammation that destroys the myelin, causing progressive deterioration (wasting of the body) that leads to vegetative state or death over the next five years.
Adrenomyeloneuropathy covers most of the other cases. This is an adult form called AMN for short. The disease appears in young men in their 20s to 30s and progresses more slowly than in boys. The first symptoms of the disease are limb movement disorders of a neurological basis. These disorders consequently lead to moderate or severe disability.
About 1/3 of patients are also affected by the central nervous system. Like boys, young men retreat mentally. Usually, 5 years after diagnosis, patients die or enter a vegetative state.
To date, no effective treatment has been developed for adult ALD. Usually, patients are offered palliative treatment.
The majority of boys and men with ALD / AMN have Addison’s disease (primary adrenal insufficiency). In about 10 percent. ALD cases are the only sign of the disease. The adrenal glands produce hormones that control the levels of sugar, sodium and potassium in the body. They also help fight stress. In Addison’s disease, the body produces an insufficient amount of the adrenal hormone, which can be life-threatening. Fortunately, this aspect of ALD can be treated in a simple way – by taking one tablet of the steroid a day and adjusting the dose of the drug during periods of increased stress or illness.
In women who carry the ALD genetic mutation, the disease does not affect the brain, and symptoms are usually milder than in men. The effects of a genetic mutation most often appear after the age of 35 and include stiffness, weakness and paralysis of the lower limbs. Women also suffer from joint pain and problems urinating.
Searching for Hope
Let’s go back to Lorenz’s story. Adrenoleukodystrophy is a consequence of inheriting the mutant X chromosome. Its presence in the body causes a congenital deficiency of the enzyme acyl-S-CoA peroxisomal sythetase. As a result, long-chain saturated fatty acids accumulate in the body and damage the myelin sheath, which protects the nerve fibers. Progressive disease leads to neurological degradation due to demyelination of the white matter of the brain. Brain functions deteriorate as the myelin sheath of nerve cells becomes thinner. Without this sheath, neurons cannot conduct impulses.
When the parents of Lorenzo Michaela and Augusto Odone heard the diagnosis, they did not come to terms with it. When they got to know the essence of the disease, they decided to look for effective drugs for their child. On their own, they started researching an oil that was supposed to save their son’s life. Together with chemists, they conducted experiments and invented a means of preventing the formation of long-chain fatty acids with oleic and erucic acids. They named this oil Lorenzo’s oil.
Initially, it was thought that giving oil to sick children was pure quackery. But the oil’s effectiveness was confirmed by doctors at the Baltimore Institute. Ultimately, they proved that in 3/4 of the boys tested with the X chromosome mutation, administration of the oil prevented the disease. Unfortunately, in people whose disease has already developed, the oil is ineffective. It does not heal the disease, but it slows its progression.
Lorenzo’s oil is a mixture (in a 4: 1 ratio) of glycerin trioleate and glycerin trierubinate (i.e. glycerin esters of oleic and erucic acid), which is intended to prevent the formation of long-chain fatty acids, which are responsible for adrenoleukodystrophy.
500 ml of oil costs PLN 500. This portion will only last for 10 days. The drug is not reimbursed by the National Health Fund. The sick bring him from England.
Tekst: Anna Jarosz