To some, a young man turning 30 years old might not be such a big deal. But for Lorenzo Odone, this is a tremendous milestone.
The first five and a half years of his life, Lorenzo was an active boy who spoke three languages. He had lived in the Comoros Islands in East Africa for three years with his parents Augusto and Michaela. When Lorenzo was five, his teachers noticed behavioral changes and spoke with Augusto and Michaela about them. It was not long until Lorenzo was diagnosed with Adrenoleukodystrophy (ALD) in 1984. Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. People with ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex because they do not produce the enzyme that breaks down these fatty acids in the normal manner. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of ALD. ALD has two subtypes. The most common is the X-linked form (X-ALD), which involves an abnormal gene located on the X-chromosome. Women have two X-chromosomes and are the carriers of the disease, but since men only have one X-chromosome and lack the protective effect of the extra X-chromosome, they are more severely affected. Onset of X-ALD can occur in childhood or in adulthood. The childhood form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia. In the milder adult-onset form, which typically begins between ages 21 and 35, symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. A mild form of ALD is occasionally seen in women who are carriers of the disorder. Symptoms include progressive stiffness, weakness or paralysis of the lower limbs, ataxia, excessive muscle tone, mild peripheral neuropathy, and urinary problems
(National Institute of Neurological Disorders and Stroke, 2007).
When Lorenzo was diagnosed with ALD, treatment options were very few. Lorenzo was already showing symptoms of the disease. Augusto and Michaela worked endlessly on trying different things that would help their son. Lorenzo was entered into a diet trial, which put him on a special diet restricting any foods that contained the Very Long Chain Fatty Acids C24-C26. This did not prove effective, so Lorenzo was entered into another trial that was a brutal process, a type of immunosuppressant therapy involving chemo, which also was ineffective.
Lorenzo’s father, Augusto, poured himself into finding a cure for Adrenoleukodystrophy. He determined that a combination of erucic acid from rapeseed oil and oleic acid from olive oil could combat the Very Long Chain Fatty Acids, and “Lorenzo’s Oil” was born. Lorenzo was put on this combination of rapeseed oil and oleic acid, and is still on this regimen to this day. Augusto credits Lorenzo’s health to “Lorenzo’s Oil.”
Today, Lorenzo is in many ways incapacitated. He is blind, but he can hear. He is aware of his surroundings. He blinks his eyes and makes purposeful sounds in efforts to communicate. He is always delighted by the presence of his big brother, Francesco. He enjoys being read to – novels are his favorite. He likes classical music, and enjoys being in the swimming pool. Besides long-time family friend, Oumari, who is involved in Lorenzo’s care, Lorenzo requires full time, around-the-clock nursing.
Augusto Odone is the founder of The Myelin Project, a nonprofit organization committed to eradicating demyelinating diseases such as Adrenoleukodystophy (and other Leukodystrophies) and Multiple Sclerosis.
For boys who are diagnosed with ALD, treatment with Lorenzo’s Oil and a bone marrow transplant could help to slow the progression of the disease. Ultimately, the goal is to determine these diseases at birth through Universal Newborn Screening, which the Myelin Project is wholeheartedly working on. The development of these tests is quite costly; and federal funding is limited. Donations are needed to continue developing these tests, so that children who are diagnosed with ALD or other demyelinating disorders, as Lorenzo was, are given a chance at life.
Happy Birthday, Lorenzo. And many more.
Donations may be made in honor or Lorenzo's Birthday at http://www.myelin.org/en/donations/add.asp
©2008, Trish Knight, The Stennis Foundation