Adrenoleukodystrophy is a genetic disease that occurs at birth. It happens when the X chromosome has either mutated or is defective in some way so that it prevents the body from being able to create proteins that normally bind to the VLCFA [Very Long Chains of Fatty Acids]. Instead of processing the fatty acids, Adrenoleukodystrophy makes the body store them up instead so they can’t be broken down into smaller chains. This creates a deterioration of the myelin sheaths in the nervous system and eventually neurological degeneration.
Statistics on Adrenoleukodystrophy
1. Adrenoleukodystrophy affects about 1 in every 15,000 boys that are born every year. It is almost always passed on from a mother who is a carrier to their son.
2. When later onset forms of this disease are included in the numbers, the overall incidence rate of Adrenoleukodystrophy is 1 in 20,000 people.
3. The number of people in the United States right now who are believed to be suffering from this disease: 13,600.
4. 7.5 years. That’s the average age of diagnosis for Adrenoleukodystrophy.
5. The symptoms of adult-onset ALD can include weakness, stiffness, paralysis in the person’s lower limbs, as well as loss of coordination.
6. The childhood cerebral form manifests most commonly between 4-8 years of age.
7. Approximately 20% of females who are carriers develop neurologic manifestations that resemble Adrenoleukodystrophy, but have a later onsent and a milder overall disease.
8. Plasma concentration of VLCFA is abnormal in 99% of males with Adrenoleukodystrophy.
9. Increased concentration of VLCFA in plasma and/or cultured skin fibroblasts is present in approximately 85% of affected women.
10. 20% of known carriers have normal plasma concentration of VLCFA.
11. ABCD1 is the only gene known to be associated with Adrenoleukodystrophy.
12. 93%. That’s the percentage of Adrenoleukodystrophy cases that result because of a pathogenic variant that is transmitted by a parent.
13. Only 7% of Adrenoleukodystrophy cases are the result of a mutation of the X chromosome. There are over 1,500 different mutations that have been registered since tracking began.
14. 77% of all mutations are transitions.
15. Carrier mothers have a 50% chance of transmitting the ABCD1 variant in each pregnancy they have.
16. In approximately 85% of affected individuals, an MRI scan shows a characteristic pattern of symmetric enhanced T2 signals in the parieto-occipital region of the brain.
17. Adrenoleukodystrophy was first recognized in 1923 and has been known as Schilder’s disease and sudanophilic leukodystrophy.
18. Adrenoleukodystrophy is not limited to ethnicity or racial demographics. It has a global incidence rate that is equal for all populations.
19. About 35% of patients with Adrenoleukodystrophy develop the most severe form of the disease, the cerebral version.
20. The prognosis of untreated CCALD Adrenoleukodystrophy is poor, usually causing severe disability and death within 2 to 4 years.
21. About 70% of those with the AMN version of Adrenoleukodystrophy also have Addison’s disease or testicular insufficiency.
22. Lorenzo’s oil does not alter the clinical progression of patients with neurological symptoms, although some support websites suggest it is possible.
23. Two potentially successful treatments through gene therapy have occurred in Paris as of 2009 where disease progression stopped by 16 months of age.
24. The childhood form of X-linked Adrenoleukodystrophy is a progressive disease. It can lead to a long-term coma that may last as long as 10 years before death eventually occurs.
Common Challenges with Adrenoleukodystrophy
Two challenges exist in the diagnosis of Adrenoleukodystrophy: children are remarkably adaptable to it and the symptoms are similar to many other diseases. The good news is that a simple blood test can give definitive results so that parents will know if Adrenoleukodystrophy is present. The test costs about $200 if it is done outside of the scope of health insurance.
How can parents tell if their child may have Adrenoleukodystrophy? Many of the symptoms are similar to Attention Deficit Disorder or its hyperactive counterpart. There might also be changes in skin color, persistent headaches, seizures, a lazy eye that develops, clumsiness, low energy levels, and difficulty in recovery from an illness or an injury. If Adrenoleukodystrophy is caught in its early stages, it can generally be treated – although a cure doesn’t currently exist. Only a bone marrow transplant can halt the progression of the disease.
As the statistics of Adrenoleukodystrophy show, there are certain children who are more at risk for this genetic disease than others. Gene therapy is on the horizon and newborn screenings can help with early detection, but there are still children who are slipping through the cracks.
Should It Be Taken More Seriously?
Adrenoleukodystrophy may not seem like a serious disease, but it certainly can be. Although kids who get the AMN version of the disease have a comparable life span to the general population, the CCALD version is particularly deadly. This is why getting blood screenings for infants is so important. The faster this disease is caught, then the more likely it is that treatments will be able to prolong the child’s life.
What is unique about this disease is that a father who has the affected gene will always pass on the affected gene to his daughters. Those daughters then have a 1 in 2 chance of having a son be born with Adrenoleukodystrophy. There’s also a 1 in 2 chance that a daughter from a carrier mother will become a carrier as well. Also unique is the fact that some carriers can actually experience some of the symptoms of this disease without it actually being active.
If you notice boys who have the typical symptoms of ADD/ADHD, but their progression of development is slowing down or reversing, then it is important to have that child immediately checked for this genetic disease if it hasn’t already been checked already. Time is of the essence, especially with the cerebral version of this disease. By knowing the statistics about Adrenoleukodystrophy and by recognizing the symptoms of it when they occur, treatments can be given that will help life begin to return to normal for a majority of those with this disease.