On Wednesday evening, Matt Reimer was running around, playing with his 8-year-old sister Lucy.
He appears and acts like a typical 7-year-old boy. You’d never know that he recently was diagnosed with a rare, complex genetic disorder.
It’s called childhood X-linked adrenoleukodystrophy, or X-ALD for short. It alters functions in the nervous system and in the adrenal glands. The nervous system that is affected is the myelin, which is the insulating material around the nerve fibers, so it can affect the brain and spinal cord. Adrenal glands allow us to fight off infections and react to stress.
Looking back, his parents, Troy and Emily Reimer of Lawrence, said there were early symptoms such as his darker skin. He also was having trouble concentrating in school.
But they had no idea their youngest son was sick until Feb. 5.
Matt came home from school that day with a 103-degree temperature, and he was vomiting.
“I assumed he had the stomach flu,” Emily said.
By Saturday night, Matt’s condition worsened and his parents rushed him to Lawrence Memorial Hospital’s emergency room. Once stabilized, he was sent to Children’s Mercy Hospital by ambulance. Within days, doctors said he had adrenal insufficiency. Two weeks later, he was diagnosed with X-ALD.
“We were devastated, absolutely devastated,” Emily said. “They told us he would probably end up in a wheelchair. So I am looking for all kinds of treatments out there.”
People can get adrenoleukodystrophy as an adult or child.
Dr. Gerald Raymond, director of neurogenetics at Kennedy Krieger Institute in Baltimore, said the classic childhood form of the disease occurs between ages 4 and 10. It’s the most severe and affects only boys. Symptoms may include visual loss, learning disabilities, seizures, deafness, fatigue and progressive dementia. The most common are behavioral changes such as abnormal withdrawal or poor school performance.
“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. Augusto and Michaela Odone developed the oil after their son, Lorenzo, was diagnosed with the disease in 1984. Their story was depicted in the movie, Lorenzo's Oil.
Raymond said there is significant risk with a transplant, and gene therapy is only being done in Paris and on a research basis.
At Kennedy Kreiger Institute, doctors have been studying the effects of Lorenzo’s oil — a combination of two fatty acids extracted from olive oil and rapeseed oil, and low-fat diet — on boys who have been diagnosed with X-ALD but are showing no neurological signs and had a normal brain MRI.
The results in a 2005 study were promising. Seventy-four percent of the 89 patients showed no signs of disease progression.
The institute is currently doing another study, and Matt is among 100 boys who have been accepted. That’s because he doesn’t have lesions on the brain and is showing no neurological symptoms.
He is scheduled to make the trip to Baltimore in July, when he will begin participation. He will begin taking daily doses of Lorenzo’s oil and go on a low-fat diet.
Matt will be monitored with MRIs and other testing, and will go back to Baltimore on a yearly basis. He will be on the study until age 13.
Raymond said there are a lot of unknowns about adrenoleukodystrophy, and it is unpredictable. He said the worst-case scenario is death from the childhood form. The best-case scenario is to live a normal lifespan with mild neurological impairments.
Matt's mom, Emily, said, “It’s just kind of a ticking time bomb. We don’t know what the next MRI is going to show. That’s why we want to get him on the study.”
HOW TO HELP
Ad Astra Area Aquatics, a youth swim team, is hosting a bowling fundraiser for team member Matt Reimer, of Lawrence.
Matt has been diagnosed with childhood X-linked adrenoleukodystrophy, a complex and rare neurodegenerative disorder. He has been accepted by the Kennedy Krieger Institute in Baltimore to participate in the Lorenzo’s Oil medical study to attempt prevention of cerebral onset. Money raised will help pay for his family’s trip and medical expenses not covered by insurance.
The fundraiser will be from 2 p.m. to 4 p.m. Sunday at Royal Crest Lanes, 933 Iowa. Cost is $10 for one game and shoes. Fifty percent of the proceeds will benefit Matt. There will be auction items available. If you would like to donate something, contact Tracy Ford Stacey at 550-1751.
Also, if you mention Matt’s cause while eating at Wayne and Larry’s Sports Bar & Grill, 933 Iowa, from May 16 through May 22, the restaurant will donate 10 percent of the bill.