Adrenoleukoydystrophy

ALD is the acronym for a rare genetic disease called adrenoleukodysrophy. Due to its unique pattern of inheritance, and the fact that any individual may undergo random gene mutations, this horrible disease can make its devastating and often lethal appearance without any warning. It is commonly known as the “Lorenzo's Oil” disease, after the Oscar nominated 1993 film, starring Susan Sarandon and Nick Nolte, which was based on the Odone Family's experience.

ALD affects boys and young men. In the childhood presentation, which is observed in 35% of ALD-positive individuals, it is usually diagnosed between the ages of four and ten years old. They generally have a history of learning disabilities and/or a behavior issue such as attention deficit disorder (ADD) or attention deficit hyperactivity disorder (ADHD) while in fact, insulating material in the boys' brains, the white matter (myelin) is progressively being destroyed. The disease worsens over several years, and usually in less than two years from ALD diagnosis, the child will lose all cognitive, mental, and physical functions, and deteriorate into a vegetative state leading to death.

Once an ALD diagnosis has been made, treatment options are limited. The most uniformly accepted and recommended therapy is a bone marrow transplant or a cord blood transplant. But much like Krabbe Disease, these treatments are suitable for afflicted persons during a relatively narrow window of opportunity; before or at early onset of symptoms.

The oil at the basis of the movie, Lorenzo’s Oil, does not repair myelin and does not have any known effect on other demyelinating disorders, but in presymptomatic ALD boys, 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.

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From Sheila Schmitt, whose son, Jimmy, has ALD. The Schmitt’s reside in Amherst, NY:
At 8 years old, Jimmy was a very bright boy who enjoyed baseball and playing the piano. He was very good in school and seemed to excel at whatever he did. In March of '98, something just didn't seem right. We would talk to him and he just didn't seem to understand simple instructions or he would forget something you told him 5 minutes ago or he would be playing with Lego's and he would say “I remember that I could do this before but now I don’t know how." Thankfully the pediatrician sent Jimmy for a CAT scan right away. He was diagnosed with ALD and on October 16, 1998 Jimmy had a cord blood transplant at the University of Minnesota, Fairview Hospital. Five weeks after the transplant, everything seemed to be going fine. Then one morning he woke up only screaming and not moving. The Doctors said that the disease had spread and there was no turning back, Jimmy would die very soon, as all of his organs and functions would shut down. For about 2 years, Jimmy hung on by a thread. He had pneumonia 3 different times and his central line was infected. He was on a ventilator for 40 days straight.

It has been 5 years since the diagnosis and cord blood transplant and Jim is still with us. He cannot walk or speak or move very much on his own, but he does go to a special school right here in our community every day. He is primarily fed through a g-tube, but does enjoy pureed and soft foods like yogurt, ice cream, and applesauce. He has the greatest smile and even though he cannot speak he can usually get his point across. We are enjoying him very much and we are so blessed that Hunters' Hope is right here in our backyard so that we are able to go to all the special events to help raise awareness.