News from Monterey Herald.com Apr.18, 2007

'Lorenzo's Oil' revisited
Family is first to try experimental treatment
By MAURA LERNER
Minneapolis Star Tribune
MINNEAPOLIS, Minn - By the time Beverly Davis called Dr. Lawrence Charnas at the University of Minnesota, she was desperate. Her 9-year-old son, Chase, had a rare genetic condition that was robbing him of the ability to walk and talk. Doctors had said he had only 18 months to live.
Charnas, a specialist in the boy's disease, knew they were probably right. For kids like Chase, in the advanced stages of adrenoleukodystrophy (ALD), there was no known treatment.
But if Chase's family was willing to try something new -- and risky -- Charnas and his research team had an idea. It would involve months in the hospital, a foul-smelling drug and a bone marrow transplant that might hasten the boy's death.
The experiment had never been tried before, Charnas told Chase's mother, and there were no guarantees.
"It was do nothing and know what's going to happen," Davis said. "Or give this a try."
The choice was obvious.
By the fall of 2005, when he first met Chase, Charnas had spent years trying to crack the mystery of ALD.
It's the disease made famous by the 1992 movie "Lorenzo's Oil" -- the true story of a boy named Lorenzo Odone.
After his diagnosis, his parents developed a potential treatment using a mixture of natural oils; and then battled the medical establishment to win its acceptance.
Earlier treatment now useless|
In practice, though, Lorenzo's Oil has had only modest success, said Charnas, a pediatric neurologist who studied under Lorenzo's physician, Dr. Hugo Moser, at Johns Hopkins University in Baltimore.
In Chase's case, Lorenzo's Oil was considered useless because his disease had progressed too far.
That is one of the cruelties of the disease, which only affects males, said Charnas. When a boy starts showing symptoms, it's often too late to treat.
At the University of Minnesota and elsewhere, doctors had been treating some patients with bone marrow transplants. It worked well on boys who were still healthy when the diagnosis was made (typically, after another family member developed the disease).
But by 2005, the 53-year-old Charnas and his colleagues had stopped giving transplants to children like Chase, because they did so poorly.
"We knew what we had to offer didn't work," Charnas said. "That was terrible. The families were frustrated, we were frustrated. We started looking for other things to do.
"I was not content to do the same old thing."
The Davis family, from Mount Zion, Ill., was on vacation two summers ago when Chase, the eldest of three kids, started to stumble. His mom, Beverly, had noticed earlier that he had been dragging his feet and seemed to talk slowly when he tired. But now "he couldn't pick up his feet," she recalled.
Fatal genetic disease|
Scared, she and her husband rushed him to a hospital.
A CT scan showed a brain abnormality. The doctors mentioned ALD and "gave us just enough information to scare us to death," she said.
ALD is one in a family of genetic illnesses that attacks the adrenal glands and the myelin, or insulation around nerve cells, in the brain. The worst form generally strikes between ages 4 and 10, and progresses rapidly, causing vision loss, difficulty speaking and swallowing, fatigue, seizures, loss of coordination and memory -- and death.
By the time they got Chase to a specialist in St. Louis three weeks later, "we were seeing changes," Beverly said. "By the end of the day, he couldn't walk a long distance." His speech would slur. Sitting on the floor, he sometimes fell backward.
Tests confirmed it was ALD.
Drug saved their lives|
Chase was one of three boys to join Charnas' experiment. The idea was to use a drug called Mucomyst along with a bone marrow transplant.
Another scientist had suggested that Mucomyst, which is used to treat cystic fibrosis, might interfere with the chemical process in the brain that causes ALD patients to deteriorate.
Chase had the bone marrow transplant in January 2006. About month later, he had an MRI of his brain, and for the first time, there was no new visible damage. "I can remember Dr. Charnas telling him, 'Do you understand what that means? That means you're not going to get any worse!'"
All three boys in the experiment survived, and their disease stopped progressing, although the treatment didn't reverse damage they'd already suffered, Charnas and his colleagues reported in a scientific journal in February.
Without treatment, they almost certainly would have died, the researchers said. "The results were frankly astounding," Charnas said. "We went from a survival rate of zero to a survival rate of 100 percent."
Others call the study small but promising. "They were getting a death sentence, and now they have some hope," said Dr. Rachel Salzman of the Stop ALD Foundation. "We're so pleased that Dr. Charnas has not given up on this group of children."
For Chase, life is still a struggle. He still can't walk or speak, though he's doing therapy and making progress, his mother said. He's back at school, in fifth grade, and "doing quite a bit on his own," she said.
"The big thing is, Chase is here," said his mother. "His personality hasn't changed. His sense of humor, the things he likes. Chase is still Chase."
It was only about 18 months ago, she pointed out, that he was given 18 months to live.
The Lorenzo's Oil story
Lorenzo Odone, the boy who inspired Lorenzo's Oil, is still alive at 28, though he is incapacitated and needs round-the-clock care, according to Rachel Salzman of the Stop ALD Foundation.
The treatment that bears his name was invented by his father, Augusto Odone, now in his 80s. Scientists say Lorenzo's Oil is not a cure, but that it may help if given early enough to children who inherit the genetic abnormality.
Experts say that early detection is the key to stopping ALD (adrenoleukodystrophy). If they can detect it before symptoms appear, doctors can monitor and treat it more successfully.
The problem is that ALD is extremely rare, and most families don't know they carry the abnormal gene until someone gets sick.
But scientists at Johns Hopkins University have developed an experimental blood test for ALD. And the Mayo Clinic is preparing a study to find out if the test can effectively be used to screen newborns, said Dr. Silvia Tortorelli, a Mayo researcher. "These children are normal at birth. They don't have any symptoms," she said.
More information about ALD is available at www.stopald.org .
 

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