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 – 12 month intervals.

Have your child tested for adrenal insufficiency (Addison’s disease). This is usually 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 is between the ages of 2 and 6 years old and is not yet symptomatic, you may consider participating in a clinical research trial. There is only one currently underway, at the Kennedy Krieger Institute in Baltimore, Maryland. It uses a combination of a low-fat diet and “Lorenzo’s oil” to stave off the onset of symptoms. Lorenzo’s oil is not a cure for ALD, but recent findings from the ongoing studies at Kennedy Krieger have shown that it may have promise in keeping children symptom-free. You can contact the Institute about trial enrollment by calling +1 (443) 923-2750.

If your child already has symptoms, the only currently 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.

Diagnostic Testing

Once ALD is suspected, there are two tests that must be done: a blood test and a brain scan. The blood test analyzes the amount of very long chain fatty acids, which are elevated in ALD. This test has the highest degree of accuracy in males; however, it can sometimes miss the presence of the mutated gene in women who are carriers of the disease.

If the blood test suggests ALD, a magnetic resonance imaging scan (MRI) will be performed to determine if the disease has begun to do damage to the brain. Lesions on the brain caused by the destruction of the myelin will appear on MRI before any neurological or psychological symptoms appear. The MRI scan will produce something called a Loes score, which rates the severity of the damage to the brain on a scale from 0 to 34. A score of 0.5 or less is normal; a score of 14 or more indicates severe ALD.