Program supplying Lorenzo's oil to X-ALD patients faces funding crisis

The Kansas City StarFebruary 13, 2012 

LAWRENCE — But for one life-saving difference, 8-year-old Matthew Reimer's after-school routine is similar to that of many boys his age.

Homework: 20 minutes today of reading “My Side of the Mountain.”

Snack: low-fat cookies, milk and muffin.

Later: an hour of swim team practice.

But in the middle of his routine, the third-grader will drink 15 milliliters of the 44 milliliters he takes every day of Lorenzo's oil — a substance made famous 20 years ago by the Nick Nolte and Susan Sarandon movie of the same name.

It also is the substance at the center of a new set of worries for the Reimers, who less than a year ago learned that Matthew, the youngest of their four children, has a rare and potentially deadly genetic disorder.

Now the family is coming to understand the vast difference between the hopeful endings of big-budget Hollywood films and government-budget reality.

In early December, the Reimers received a letter from physician Gerald Raymond, the director of neurogenetics at the Kennedy Krieger Institute in Baltimore — the one man in the United States who is allowed to distribute Lorenzo’s oil as part of a clinical trial.

Because of budget cuts from a weakened economy, his letter said, his laboratory’s work on the class of disorders that includes Matthew’s illness, known as X-linked adrenoleukodystrophy, or X-ALD, was in jeopardy.

Raymond received a few hundred thousand dollars in federal and other funding, but much of the money would run out in March. In his letter, he was appealing directly to families for donations.

“Funding is necessary for all research projects, whether it comes from public or private sources,” Raymond said in an email response to questions from The Star. “Without funding, we cannot conduct clinical trials, which results in no availability of Lorenzo’s oil.”

Now stay-at-home mom Emily Reimer, 41, and her husband, Troy, 43, a computer programmer, find themselves in a limbo of confusion and desperation as they appeal in letters to friends and relatives while also looking for what Emily Reimer calls “deep pocket” donors.

“We just got used to Matt’s diagnosis,” she said. “It hadn’t been a year when we got the letter. … Now they are losing their funding. It affects everything they are doing.”

• •

A year ago this month, the Reimers thought Matthew was no different from their other children: Ben, now 15; Jon, 12; and Lucy, adopted from China, who also is in third grade and turns 9 in March. Matthew is an active, plucky kid with sandy hair who loves to swim and run around.

In second grade, he began complaining of headaches.

“Every time it seemed we had a chore to do, he would say, ‘I have a headache,’ ” Emily Reimer said. “I thought he was just trying to get out of things. He was always ready to go when something fun was going on.”

But it was much more than that. A call came from school. Matthew was in wrenching pain. He barely had the strength to stand. His skin had always been darker than normal. The family thought it was just genetics and would joke that Matthew was born with a year-round tan. They would later discover it was part of his illness. Now, on the February day, he was alabaster white. They brought him home thinking he had a bad flu.

“By evening, he was throwing up brown and black,” Emily Reimer recalled.

They rushed him to the emergency room at Lawrence Memorial Hospital. She could see her son crashing, almost lifeless. His blood chemistry was disastrous. An ambulance sped him to Children’s Mercy Hospital.

His physicians knew right away that Matthew was in adrenal failure. The gland, located above the kidneys, was not making cortisol, vital for helping produce blood sugar. Doctors pulled him through.

Eventually, tests would show that his illness went beyond the adrenal gland. Matthew had X-linked adrenoleukodystrophy.

X-ALD is the most common form of a group of leukodystrophies that, even grouped together, are rare, appearing in about one out of every 17,000 male and female births.

That amounts to about 9,000 males and 9,000 females in the United States who have some form of ALD or who are carriers.

Because the disorder is recessive — resulting from a mutation on a single gene on one X chromosome — women, who have two X chromosomes, don’t typically get the illness. Mostly they are carriers. Their second, normal X chromosome protects them, although some women do a get a mild form of the disorder as adults.

But males, having one X and one Y chromosome, are not protected.

When the mutation appears, it can have horrible consequences, forming long chains of fatty acids that accumulate in all the tissues of the body, but particularly damaging the adrenal glands and nervous system.

In the brain, the fatty acids attack the myelin sheath that allows nerve conduction. This leads to gradual brain damage and early death, generally within one to 10 years from the beginning of symptoms.

Before Matthew was officially diagnosed, Emily Reimer was surfing the Internet, sitting on the floor of her bedroom with her laptop, searching for clues to what her son might have. She hit on X-ALD, and everything about it seemed to fit

“The horror that goes with it, you can’t even wrap your head around it,” she said. “All the kids were in bed. I burst into tears. I knew it. I just knew this was it.”

About 45 percent of males don’t get the illness until they are adults, typically older than 28. That form of the disorder is known as AMN, for adrenomyeloneuropathy. It is less severe and moves more slowly, but eventually it leads to disabilities such as speech problems and loss of leg mobility.

The worst form of ALD, affecting about 35 percent of those with the gene, arises in boys ages 4 to 10, Matthew’s age range.

Should the disease hit the brain, the most common symptoms listed by the National Institute of Neurological Disorders and Stroke include withdrawal or aggression, poor memory, learning disabilities, seizures, deafness, disturbances of gait and coordination, difficulty swallowing, fatigue, vomiting, increased skin pigmentation and progressive dementia. Before children die, they become blind, paralyzed and unable to speak.

Bone marrow transplants have been shown to arrest the disease in boys who show early or few symptoms, but finding marrow donors is not easy; the operations are expensive and can be dangerous, even fatal, if the transplants don’t take.

Children’s Mercy Hospital has performed three transplants on boys with ALD since 2001.

Recent work out of Paris has found great promise in gene therapy, replacing the bad genes with good.

“There is tremendous hope that eventually all boys may be treated with gene therapy,” Raymond wrote.

Then there is Lorenzo’s oil.

• • •

Lorenzo Odone, born in 1978, was diagnosed at age 6 with X-ADL. Doctors gave him two years to live. His parents, Augusto and Michaela Odone, refused to accept that judgment.

With no scientific training, they investigated the disease and its link to long-chain fatty acids and invented Lorenzo’s oil. Its formulation has changed over the years. But when given to asymptomatic boys — boys identified as having X-ALD but whose brains on scans have yet to show disease — the mixture of two natural fatty acids (oleic acid and erucic acid) has been shown to help keep the disorder at bay.

Lorenzo’s oil is not a medicine. And it is not a cure. But, in conjunction with a diet low in fatty acids, it does appear to stall the disorder long enough for boys like Matthew to grow into adulthood when the effects of the disease are less severe.

“Anyone who meets Matthew,” his mother said, “sees an absolutely normal boy.”

The movie ends on a hopeful note with some connection to reality. Lorenzo eventually died from pneumonia in 2008 at his home in Virginia, one day after this 30th birthday.

Indeed, money for and interest in X-ALD flowed more freely after the movie.

In those 20 years, strides were made, much of it under the guidance of Hugo Moser, who died in 2007 and was the former director of neurogenetics research at Kennedy Krieger.

He and his team developed a blood test to detect the disease’s chains of fatty acids. In 2006, he created an ALD screening test for newborns that the institute hopes will become a standard, saving lives by allowing children to begin treatment before symptoms appear. Other studies are looking at the illness in women.

Now come the cuts in money flowing to Raymond’s lab through its affiliation with Johns Hopkins Hospital. When Johns Hopkins’ Clinical Research Centers lost funding this year, Raymond lost his.

About 70 boys nationwide receive Lorenzo’s oil through the institute.

Produced by a company in England, the oil is available somewhat more freely as a “medicinal food” in a few foreign countries such as Germany, France and the Netherlands. But in the United States, the Food and Drug Administration requires two placebo-controlled studies before it will approve the oil as a drug available by prescription.

Such studies would require some children to act as “controls,” meaning that while some children would get Lorenzo’s oil to test its protective qualities, others, by design, would unknowingly be given an ineffective placebo.

The consequence is that Lorenzo’s oil has never been tested in that way “because of the ethical implications of withholding a potentially beneficial treatment from a child,” Raymond said.

The result is that in the United States, boys such as Matthew can get the oil only as “an investigational agent” by being part of Raymond’s study.

Afraid that the supply may soon dry up, the Reimers and others in the small ALD world are scrounging for money.

“We’re sending out our own letter” looking for funds, said Paula Brazeal, president of the Illinois-based United Leukodystrophy Foundation.

In California, the Myelin Project, a nonprofit started in 1989 by Augusto Odone, is trying to gather $50,000 from ALD-affiliated groups worldwide to keep Raymond’s work going through June. Raymond needs about $500,000 to continue the Lorenzo’s oil trial over the next decade and an additional $1 million to continue his studies in women.

“It’s very frustrating and very scary. I have known Gerry Raymond for years and I have never received a letter like this from him before,” said Myelin Project President Patti Chapman. “I’ve lost two brothers to this disease, and my oldest (adult) son has the disease. Without it (Lorenzo’s oil), boys will get symptoms.”

That’s the last thing the Reimers want for Matthew.

“I want him to take it throughout his entire life,” Emily Reimer said. “If I can get it.”

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