Lawrence parents fear son will lose participation in Lorenzo's Oil study due to funding cuts

Eight-year-old Matthew Reimer takes a dose of Lorenzo's Oil on Friday, Feb. 24, 2012, as his mother, Emily, prepares a snack in the background. Matthew was diagnosed with a rare, complex genetic disorder called  X-Linked Childhood Adrenoleukodystrophy last year. He takes the oil as part of a study at Kennedy Krieger Institute in Baltimore. The oil has been shown to slow progression of the disease.

Eight-year-old Matthew Reimer takes a dose of Lorenzo's Oil on Friday, Feb. 24, 2012, as his mother, Emily, prepares a snack in the background. Matthew was diagnosed with a rare, complex genetic disorder called X-Linked Childhood Adrenoleukodystrophy last year. He takes the oil as part of a study at Kennedy Krieger Institute in Baltimore. The oil has been shown to slow progression of the disease. by Richard Gwin

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.

The illness

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.

Funding cuts

“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."

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


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.

Tagged: adrenoleukodystrophy, Lorenzo's Oil, X-Linked Childhood Adrenoleukodystrophy

Comments

motomom 2 years, 8 months ago

I know the Reimer family very well... and Matt is a very good buddy of mine. i am constantly AMAZED at Emily & Troy as they investigate, explore, dig, explore some more, dig deeper and remain positive at chasing down this disease. Matt is also incredible. He doesn't complain one bit...he just goes along...drawing pictures, doing his homework, swimming on the swim team, playing legos and hanging with his siblings. He is VERY clever, kind and downright silly. His brothers and sister are pretty special too. They have to live with ALD, too....just in a different way. Because of the Reimer's, I am reminded daily at how very important friends, family, faith and tenacious doctors are. I cannot imagine not having the HOPE of Lorenzo's Oil around anymore for my friend. If you can dump out your piggy bank to help this amazing boy, it would be a gift that is literally life changing..not only for Matthew...but for many other boys presently and in the future. Thank you, Readers! you ARE appreciated greatly!!! :O)

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emmadiana 2 years, 8 months ago

If you decide to donate through www.helpkids.kennedykrieger.org, be sure you designate your donation to ALD Research, or your donation will not help the Lorenzo's Oil Study. Thanks!

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Karrey Britt 2 years, 8 months ago

Interesting ... I just received an email from Governor Brownback's office, declaring today as Rare Disease Day. In the proclamation, it says: • There are nearly 7,000 diseases considered rare, and each affect fewer than 200,000 Americans. • Together, they affect about 30 million Americans. • While approximately 340 orphan drugs and biologics have been approved for the treatment of rare diseases affecting between 11 and 14 million people according to the Food and Drug Administration, that leaves well over 15 million Americans with rare diseases who have no treatment specific to their disease. • Individuals and families affected by rare diseases often experience problems such as a sense of isolation, difficulty in obtaining an accurate and timely diagnosis, few treatment options, and problems related to accessing or being reimbursed for treatment.

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Kylee Manahan 2 years, 8 months ago

There are a few people in Lawrence who could just write out a check for the $500,000 and not think twice about it, what a great tax deduction. You people know who you are why not do this for such an important study. Come on, give it up and be a hero, you can't take your money with you.

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FarneyMac 2 years, 8 months ago

What great writing - not once does this article explain what "Lorenzo's oil" (Not capitalized, because the oil is itself not a movie) is, or why it is a controversial treatment (namely, that clinical studies show its effectiveness is at best mixed).

And of course, let's not forget the idiot commenters who blame the government for private insurers not covering Lorenzo's oil as a treatment.

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emmadiana 2 years, 8 months ago

This story was a follow-up from a previous story written about Matthew's journey back in May. The link is below the current article which explains ALD. I would love nothing more than to have Lorenzo's oil available to Matthew throughout his life without having him be in a medical study. I would love nothing more than to not have to ask for federal funding to treat his disease. We would have no problem doing what we would have to do to buy the oil if it was available to us. But it's not. Only through a medical study. Believe me, if I have to move to Europe to get it, I will. Those who have ALD/AMN in parts of Europe can get LO through a doctor's prescription.

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nut_case 2 years, 8 months ago

I suppose the debate over whether the government should fund studies every oddball treatment, homeopathic remedy and home medicine cure currently circulating will rage on for some time to come. Though a brief bit of reading shows lorenzo's oil to be a 4 to 1 mixture of erucic acid and oleic acid. So while it may be unfortunate if the brave young guy looses participation in the study, it wouldn't appear that he need to loose access to the 'treatment ' - as both these oils are freely available and relatively easy to purchase. At least for the time-being, the government hasn't decided to ban these plant extracts.

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emmadiana 2 years, 8 months ago

I haven't looked into making a home remedy of LO. It think it's more complicated than it seems, or many people who deal with ALD/AMN would be doing it, and I have not seen this in the ALD community. We will know more in June whether or not this study will continue. We do not know if we can import the LO from Europe yet. We will cross that bridge if we get to it. In the meantime, we pray that something good will come along and keep the study going. It is really horrible knowing that your child may not get what he needs to stay healthy. It's a bloody nightmare.

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newtongirl 2 years, 8 months ago

To be clear, the controversy with the FDA lies in the fact that in order to approve a treatment, a clinical trial must be run with half of the participants taking a placebo (per the FDA's rules). While on placebo, these children cannot receive other treatments for their disease, which is essentially a death sentence if a child is in the placebo group. Ethics rules say that this cannot be done with children no matter how much the parents consent. It's a catch-22. What the FDA needs to do is waive the placebo study requirement for treatments for fatal diseases, especially when they're statistically proven AND - in this case - almost harmless. But the FDA is not a thinking organization, it's a bureaucracy that is no longer needed to babysit people and tell them things like smoking are bad. It's an antiquated system, not healthcare or science.

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emmadiana 2 years, 8 months ago

I was tested against Matthew's DNA and tested negative. There is only a 3% chance of this happening, and here we are. It appears Matt's body has done this all on its own. It is considered a spontaneous mutation. Our other sons are negative. We cannot trace it back in our family at all. This is all very new to us, and believe me, we are devastated beyond belief that our son has this horrific disease. From the moment Matthew was born, we thought we had a healthy, baby boy. Seven years later, after nearly losing him to an adrenal crisis, he has been diagnosed with a incurable disease--a parent's worst nightmare. When I was told the news, I was at home, and I ran into my pantry, shut the door, and screamed a silent scream because my kids were home and I couldn't let it out. Now, I live with this burden every day, and it still takes my breath away--it knocks the wind out of me. So, after trying to get used to this new normal, we find out right before Christmas that the medical study for Lorenzo's oil is running out of funds. If they run out of funds, there is no more LO for my sweet boy. So, not only do we deal with the stress that our son has a devastating disease, we now have to figure out how we are going to raise funds so our son gets the best chance of preventing the onset of the the cerebral form of this disease. I have asked family and friends, most of whom have shallow pockets, to give a little. Maybe it will help keep the study limping along. But what this study really needs is a grant or a major donation from somebody. If they find a lesion on Matt's brain, he will go straight to bone marrow transplant, which is a scary journey all its own. Some boys come out okay. Some come out not being able to see, walk, talk, eat, etc. Some pass away. It varies from boy to boy.

So, we are wanting to continue LO for our son, knowing full-well there are no guarantees, and knowing this is our only way in attempting to prevent the cerebral form. This is a terrible burden to bear, but we are not alone. Other families who have sons in the LO study are frightened for their sons' futures, too. If you know someone who knows someone, etc, pass it on. We pray someone will be touched and want to help my son and others like him.

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heidi88 2 years, 8 months ago

Growing up, I witnessed the devastation this disease can have on a family. My aunt who married into the family carries this chromosomal defect. My aunt and uncle had 4 children, the oldest two are girls and the youngest two were boys. The oldest boy was a classmates of mine in school. By 1st grade he started having some medical issues and was first diagnosed with ALD. They also diagnosed his brother who was 2.5 years younger. Both boys started taking Lorenzo's oil. Within three years my cousin was in a wheel chair and had lost most of his mental capabilities. Two years later, he passed away. Meanwhile, his younger brother continued to take Lorenzo's oil which may or may not have slowed the progression of the disease. A few years into the treatment he received a bone marrow transplant from his sister- who was not a carrier. Unfortunately, the other sister has learned she is a carrier. Twenty plus years later, my cousin will be celebrating his 30th birthday. Beyond the daily medication and doctor visits, he leads a fairly normal life.

Unfortunately my aunt begin experiencing medical issues about 10 years ago. She has poor sense of balance and began using a walker in her early 50s. Her sister who is also a carrier is having similar medical problems. She had three boys, 1 with the childhood form who passed when he was in middle school, and 2 with the adult version of the disease who are now experiencing medical problems.

Whether Lorenzo's oil is successful or not is debatable. I pray that Matthew can find the right help that he needs to stop the progression of this disease.

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emmadiana 2 years, 8 months ago

That is exactly right, none2. You hit the nail on the head in your last sentence.

As far as carriers go, there is really nothing for them at this time. Kennedy Krieger hopes to raise a million and a half dollars, which will cover the Lorenzo's Oil study and carrier studies for a decade. It will also aid in the push for newborn screening. Newborn screening would be very important in keeping one step ahead of this disease in each boy. If parents know for the get-go, babies can be screened for adrenal function and get on the correct meds right away, avoiding adrenal crises, get on Lorenzo's oil early, or go to bone marrow transplant early before it's too late.

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emmadiana 2 years, 8 months ago

We have been so grateful to those who have given donations to such a worthy cause. Keep passing it on. We give thanks to God for your generous hearts. Our Matthew is so precious to us, and for you to put yourselves in our place means to world to us. --The Reimers

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