Frequently Asked Questions

Frequently Asked Questions

General

What is ALD?

Adrenoleukodystrophy (ALD) is an x-linked metabolic disorder, characterized by progressive neurological deterioration due to demyelination of the cerebral white matter. Brain function declines as the protective myelin sheath is gradually stripped from the brain’s nerve cells. Without that sheath, the neurons cannot conduct action potentials—in other words, they stop telling the muscles and other elements of the central nervous system what to do. This sequence of events appears to be related to an abnormal accumulation of saturated very-long-chain fatty acids (VLCFAs) in the serum and tissues of the central nervous system, which sets off an abnormal immune response that leads to demyelination. It is unclear exactly how this chain of events works, but scientists do know that it has its roots in genetics. Learn more.

What is AMN?

Adrenomyeloneuropathy (AMN) is a genetic neuro-degenerative disease. It is the adult onset of adrenoleukodystrophy (ALD). In about half of the boys who inherit the mutated ALD gene, symptoms of the disease do not develop until young adulthood, and in general, they progress more slowly. Beginning in their 20s and 30s, these young men exhibit neurological based motor lesions in their extremities. These lesions progress over many years and are inevitably accompanied by moderate to severe handicap. In approximately one third of AMN patients, the central nervous system can also become involved. These AMN patients undergo the same mental and physical deterioration as boys with the childhood form of the disease, adrenoleukodystrophy (ALD). The progression of the disease is slower, usually declining to a vegetative state and/or death.

What is Myelin?

Myelin is an insulating layer, or sheath, that forms around nerves, including those in the brain and spinal cord. It is made up of protein and fatty substances. The purpose of the myelin sheath is to allow electrical impulses to transmit quickly and efficiently along the nerve cells. If myelin is damaged, the impulses slow down which is what occurs in adrenoleukodystrophy (ALD).

What is The Myelin Project?

We are a 501(c)3 non-profit organization focused on improving the quality of life for those living with ALD and AMN through research,advocacy and family support. We believe we can accomplish our mission by pursuing the following initiatives to: fund medical research to advance treatment and to find a cure, raise awareness, promote education, & advocate for newborn screening of ALD, and to provide financial support to low-income ALD families in need.

The Myelin Project was established in 1989 by Augusto and Michaela Odone for their son Lorenzo who suffered from adrenoleukodystrophy (ALD), a rare genetic myelin disease that deteriorates myelin in the brain and central nervous system. Although not medical doctors, the Odones developed a treatment,“Lorenzo’s Oil” now adopted throughout the world. The story of the Odones’ struggle against ALD was dramatized in the 1992 Universal Studios release “Lorenzo’s Oil” starring Nick Nolte and Susan Sarandon.

Lorenzo's Oil

WHAT IS LORENZO'S OIL?

Lorenzo’s Oil is a combination of a 4:1 mix of euric acid and oleic acid, extracted from rapeseed oil and olive oil.  It used in the treatment of pre-symptomatic patients with ALD.  The oil was formulated by Augusto and Michaela Odone after their son Lorenzo was diagnosed withe disease in 1984, at the age of five. Lorenzo’s Oil is specific to ALD, does not repair myelin, and does not have any known effect on other demyelinating disorders. In ALD pre-symptomatic boys, however, Lorenzo’s Oil often (but not always) prevents the onset of the disease by stopping the body from producing the very long chain fatty acids, whose buildup leads to demyelination.

HOW DOES IT WORK?

In ALD pre-symptomatic boys, Lorenzo’s Oil can slow down the onset of the disease by stopping the body from producing the very long chain fatty acids, whose buildup leads to demyelination.

HOW CAN I GET IT?

Lorenzo’s Oil is currently available to patients with adrenoleukodystrophy (ALD) aged 18 months to 18 years that meet the criteria: normal MRI, and positive very long chain fatty acids (VLCFA)s. To obtain Lorenzo’s Oil, please contact: Dr. Gerald Raymond gvraymon@umn.edu (612) 625-5859 at the University of Minnesota, or Dr. Ali Fatemi fatemi@kennedykrieger.org (443) 923-2750 at the Kennedy Krieger Institute.


 

  • Lorenzo’s Oil is specific to ALD and is NOT designed to be used to treat other leukodystrophies nor Multiple Sclerosis.
  • Initial  start and consent to use the oil needs to go through Dr. Gerald Raymond (see contact information).
  • Some insurance companies will provide coverage for the oil, but others do not because it is still considered to be an experimental drug by the Food and Drug Administration (FDA).
  • The Johns Hopkins University Study of Lorenzo’s Oil’s effect on ALD will cease evaluations as of November 1st, 2014.

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CAN I USE THE OIL FOR MS?

Unfortunately, no. There is no evidence that Lorenzo’s Oil has any affect on any other demyelinating diseases.  Lorenzo’s Oil is specific to ALD, does not repair myelin, and does not have any known effect on other demyelinating disorders.  For information on reliable MS treatment options, please click here to be directed to The National Multiple Sclerosis Society website.

Newly Diagnosed

A child in our family was just diagnosed with ALD. What are the first things we should do?

Get a magnetic resonance imaging (MRI) scan of the child’s brain. This will tell you the extent of the progression of the disease, and determine next steps. It will also provide a baseline for you and physicians to use to compare with future MRI scans, which are generally performed at 6 month intervals.


Have your child tested for adrenal insufficiency (Addison’s disease). The test for adrenal insufficiency is done by a pediatric endocrinologist.  Addison’s disease is generally associated with ALD. The adrenal glands produce a variety of hormones that control levels of sugar, sodium, and potassium in the body, and help it respond to stress. In Addison’s disease, the body produces insufficient levels of the adrenal hormone, which can be life-threatening. Fortunately, this aspect of ALD is easily treated, simply by taking a steroid pill daily (and adjusting the dose in times of stress or illness).


Consider limiting your child’s fat intake to no more than 30% of his daily diet. This is easily done by limiting red meats and using low-fat substitutes for things like milk and butter.


If your child already has symptoms, the approved treatment for ALD is a stem cell transplant, using either stem cells derived from bone marrow or from umbilical cord blood (UCB). If done early enough, this treatment has been found to stop the neural degeneration. However, both types of transplantation are risky procedures that can also be life-threatening. Research shows that this treatment has its best chance of success when the child has no more than one diagnosed neurological deficits, and a Loes score of 9 or lower.


clinical trial for gene therapy is currently being administered through bluebird bio. Though currently under the early stages, gene therapy is thought to be a safer method of treatment, as the child’s own cells are being used, so no need to find a match in the bone marrow registry and no chance of rejection or the use of anti-rejection medications. For more information, click here.

Our newborn was just diagnosed with ALD. What do we do and what should my pediatrician know?

Your baby should start getting his MRI, by the age of 1, to establish a baseline. MRI’s should continue to be taken every 6 months.


It is very important to have these MRI’s reviewed by an ALD specialist. Unfortunately, because ALD is a rare disease, the local neurologist may not have enough experience to notice the slight changes to an ALD patient’s MRI and ALD patients do not have the time for misdiagnosis. Six months can be the difference between life or death. Please contact Dr. Gerald Raymond Pediatric Neurologist, Specializing in ALD for a 2nd opinion on your MRI. Click here to contact Dr. Raymond.


Babies should have ACTH and Cortisol checked every 3 months from 3 months of age on. If adrenal insufficiency is diagnosed, it should be managed with a daily steroid and a stress dose whenever needed.


Starting at 2 years of age the baby should have an annual workup; including, ophthalmologic exam and visual fields.

What is a Loes Score?

Please see a physician with extensive ALD experience who will be the best qualified healthcare provider to determine the Loes scale. The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe.

It was developed by neuroradiologist Daniel J. Loes of the University of Minnesota, and is an important tool in assessing disease progression and the effectiveness of therapy. For example, even if your child shows no noticeable symptoms, if the Loes score deteriorates by more than one scale point with each six-month MRI exam, some specialists will recommend that you consider a stem cell transplant or gene therapy.

Additional Resources