7-year-old Lawrence boy with rare disease to participate in Lorenzo's oil study

Matt Reimer, a student at Deerfield Elementary School, plays with his sister Lucy in their Lawrence home Wednesday, May 11, 2011. Matt has been diagnosed with X-Linked Childhood Adrenoleukodystrophy and 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.

Matt Reimer, a student at Deerfield Elementary School, plays with his sister Lucy in their Lawrence home Wednesday, May 11, 2011. Matt has been diagnosed with X-Linked Childhood Adrenoleukodystrophy and 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. by Mike Yoder

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.”

Seven-year-old Matt Reimer, of Lawrence, is a member of the Ad Astra Area Aquatics swim team. He has been diagnosed with 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.

Seven-year-old Matt Reimer, of Lawrence, is a member of the Ad Astra Area Aquatics swim team. He has been diagnosed with 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.


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.

Tagged: childhood X-linked adrenoleukodystrophy, Kennedy Kreiger Institute, Lorenzo's oil

Comments

Karrey Britt 3 years, 3 months ago

Today, I received a private message about this story. The person who sent it said it was OK to share. Here's what he wrote: "Thank you for the great article on Matt Reimer. I am 61 years old and have been diagnosed with Adrenomyeloneuropathy which is the adult manifestation of x-linked Adrenoleukodystrophy. My symptoms started to present themselves at age 38 (adrenal insufficiency) and later at age 48 I started to have loss of feeling (neuropathy) in both feet. I took part in a study through the Kennedy-Krieger Institute and Johns Hopkins Hospital that was strictly for adults with this disease.The purpose of the study was to see if Lorenzo's Oil would help with the symptoms I described. Even though Lorenzo's Oil did not help in my case, I can tell you that Matt will be in great hands — everyone at Kennedy-Krieger was great to work with are true professionals. Thanks again for telling Matt's story and bringing information on this rare disease to LJWorld readers."

0

emmadiana 3 years, 3 months ago

Thank you, Karrey, for writing about our precious boy, Matthew. Thanks, also, for sending the comments from the gentleman above. I thought Matt was the only person in Kansas with this. It's nice to know Matt will be in good hands at Kennedy Kreiger. We are anxious to get started with everything. Another interesting thing happened regarding this article. I got a call the day this article went out from a woman in Arizona. She lived in Lawrence for 15 years and checks the Journal World on-line from time to time. She wanted to let me know ALD runs in her family. Her 2-year-old great-nephew has x-ald and is planning to travel to Baltimore in July, too. Not only was that, but her nephew lives in the same city as my parents in Washington State. Small world. I'm sure my parents will look them up, and we may be in touch with them while in Baltimore. Thanks again, Karrey.

0

Karrey Britt 3 years, 3 months ago

Thank you for your kind words. Hope the fundraiser went well today! Keep in touch and let me know how Matt is doing.

0

Karrey Britt 3 years, 3 months ago

This comment was removed by the site staff for violation of the usage agreement.

0

Commenting has been disabled for this item.