One year ago, Troy and Emily Reimer’s youngest son, Matthew, was diagnosed with a rare, complex genetic disorder that can lead to progressive brain damage, failure of the adrenal glands and eventually death.
Their only hope has been a Lorenzo’s Oil study that 8-year-old Matthew enrolled in last July at Kennedy Krieger Institute in Baltimore. Lorenzo’s Oil in combination with a low-fat diet has been shown to slow progression of the disease.
Still trying to come to grips with the diagnosis, the Lawrence family recently learned that the study is in jeopardy due to significant cuts in federal funding.
“There are no other options,” Emily Reimer said.
People can get the disease called adrenoleukodystrophy as a child or adult. Matthew has the childhood form — X-Linked Childhood Adrenoleukodystrophy, or X-ALD — which typically occurs between ages 4 and 10.
Dr. Gerald Raymond, director of neurogenetics at Kennedy Krieger Institute, said the childhood form of the disease is the most severe and affects only boys. “There often is a rapid deterioration and often they are left in a vegetative state or die within a year or two years after disease onset,” he said.
There is no cure, but there are limited therapies including a bone marrow transplant, gene therapy and Lorenzo’s Oil. Raymond said there is significant risk with a transplant and gene therapy is being done only in Paris on a research basis.
He said Lorenzo’s Oil has shown promise in studies at Kennedy Krieger Institute on boys who are showing no neurological symptoms and don’t have lesions on the brain. In a 2005 study, 74 percent of the 89 patients showed no signs of disease progression.
The institute is currently doing another study, and Matthew is among 70 boys who are participating. As part of the study, Matthew can only consume 19 grams of fat per day. He also takes 44 milliliters — about 9 teaspoons — of Lorenzo’s Oil per day and 10 milliliters of walnut oil.
“It doesn’t really taste like anything,” Matthew said of the oil, which he takes in three doses during the day.
He said he doesn’t miss the foods and snacks that his friends and three siblings — ages 8, 12 and 15 — get to eat.
“I don’t mind. I get my own stuff,” he said and added that his mom makes tasty low-fat versions of his favorites like apple pie and pizza.
Emily said she tries to be creative, especially when baking. She doesn’t use any oil when she cooks and she said Matthew has his own shelf of low-fat snacks.
“He’s starting to read labels and keep track himself,” she said.
Despite the strict diet, his parents said he has never complained because he knows it keeps him healthy.
Matthew is monitored with lab work every month and MRIs every six months. Potential side effects include drop in platelets and gastrointestinal problems. He is scheduled to participate in the study until age 13.
But, Dr. Raymond said Kennedy Krieger Institute needs to raise about $500,000 to continue the study.
“In very recent years, public funding for all scientific initiatives has decreased, posing an added challenge for research initiatives like ours that were already underfunded,” he said, adding rare diseases struggle to compete with more prevalent conditions such as cancer, heart disease and Alzheimer’s. “The unfortunate reality is that difficult decisions must be made by those who review research proposals.”
He expects the institute will have to rely on private donations to continue its ALD research in 2013.
In addition, Lorenzo’s Oil is only available through the study because it hasn’t been approved by the U.S. Food and Drug Administration. In order to be approved, a drug must go through two placebo-controlled trials where the drug demonstrates a beneficial effect. Raymond said it hasn’t been tested in boys because of the ethical implications of withholding a potentially beneficial treatment from a child.
In order to conduct such a trial in adults, the institute would need to raise $1 million, he said, and then the results could lead to FDA approval. He said there also would be the challenge of finding a pharmaceutical company to partner with.
Raymond said the availability of Lorenzo’s Oil is varied in other countries, but he’s not aware of any country that has approved it as a medication.
Emily said she’s thought about trying to get it from another country if the study ends, but then she wondered who would be able to do the required lab work. The Reimers just hope it doesn’t come to such drastic measures. They are contacting family and friends to help raise private donations for the research to continue. In addition, they also are contacting policymakers in Washington, D.C.
“We know Lorenzo’s Oil is not a guarantee,” Emily said. “But, it’s a chance to get him through childhood. I’ve never wanted him to grow up so fast.”
Matthew still could get the adult form of the disease which progresses more slowly and typically results in loss of mobility.
“I’m still trying to come to terms with it all," Emily said. "It seems like when I’m talking about — I’m not really talking about. I look at him and he looks so perfect."
HOW TO HELP
Kennedy Krieger Institute in Baltimore has been studying adrenoleukodystrophy, a rare genetic disorder, for more than 25 years. The institute is seeking private donations to continue its research and to maintain a 10-year study regarding Lorenzo's Oil. Currently, Deerfield Elementary School student Matthew Reimer is among 70 boys participating in it.
To donate, visit www.helpkids.kennedykrieger.org and designate the donation for the ALD Research Fund.
Note: A story about Matthew Reimer's diagnosis and acceptance in the study first appeared on WellCommons in May 2011.