You may remember in my post about Ralph's World I mentioned a benefit concert Ralph was doing to support Jasper Against Batten. I wanted to follow up on that post by learning a little more about Batten Disease, and thought I'd share what I learned with you. Batten Disease is named for Dr. Frederick Batten who first described the juvenile form of this disease in 1903, formally known as Neuronal Ceroid Lipofuscinosis (NCL). There are actually four types of Batten Disease, differentiated primarily by the age of onset. In all cases NCL or Batten Disease has a root cause in a genetic mutation that leads to inefficient waste removal from neurons (nerve cells) in the brain. As the waste builds up the neurons begin to fail leading to seizures and progressive loss of sight, motor skills, and cognitive abilities. Eventually all forms of the disease are fatal. The earlier degeneration begins the shorter the expected life span. So in Infantile NCL which begins between ages six months to two years, the child will usually not survive beyond early childhood. Meanwhile, adult onset NCL, which is extremely rare, begins before age 40 and results in a somewhat shortened lifespan. Late Infantile Batten begins between ages 2-4 years; Juvenile Batten begins between the ages of 5-8. All forms of the disease are rare because in order to contract the disease a child must inherit two recessive genes, one from each parent. Each offspring of such a couple has a 1:4 chance of contracting the disease and a 1:2 chance of becoming a carrier (having one copy of the recessive gene).
In short, this is one of those devastating diseases that is hidden in the maze of our DNA, is not evident prenatally, is degenerative, fatal, and rare. The intersection of these characteristics results in an "orphan" disease, meaning there is little research into the cause, possible treatments or final cure. Big pharmaceutical companies, sadly but understandably, put their efforts toward diseases that have big markets: diabetes, cholesterol, cancer, and the like. That leaves smaller laboratories, usually government agencies or academic institutions to pursue evils like Batten.
The family that started Jasper Against Batten are real heroes in this fight. Their son, Jasper, has Late Infantile Batten, and aside from the energy they have put into their own personal fight, they started a foundation to raise money to support research of treatments for all forms of NCL. Their story reminds me of the Lorenzo's Oil story and again why we should advocate and that each life is sacred and powerful.
Showing posts with label Lorenzo's Oil. Show all posts
Showing posts with label Lorenzo's Oil. Show all posts
Sunday, October 31, 2010
Friday, July 30, 2010
Why we are Advocates
This is the last post in my series inspired by Lorenzo's Oil, the film that depicts one family's struggle with Adrenoleukodystrophy. ALD is a rare disorder affecting approximately 1 of every 42,000 male births. It is a devastating disease that without treatment usually progresses toward death in a few years. Among those with a pragmatic, cost-benefit analysis worldview, it might seem irrational to spend time, money and resources to study this disease or to seek anything beyond palliative treatment for those who are affected by it. In my opinion this is both callous and short-sighted. I think ALD is an excellent case study for why we advocate for anyone with special needs.
First, if you've read many of my posts you know that a big part of my perspective comes from a pro-life foundation. The great philosopher, Horton the Elephant, taught many of us as children that, "A person's a person no matter how small..." and it really is that simple for me. As long as there is life, we value, respect, and preserve the individual, no matter how small, ill, challenging or feeble. We find ways to support, educate, give comfort to, and encourage each person. Toward the end of the progression of Lorenzo Odone's struggle with ALD he was unable to breathe without assistance, he could not eat, he could not speak, and had only limited voluntary movements, but he struggled to stay alive, and he survived far beyond everyone's expectations. Some may ask, "What did he contribute to society?" and my answer is:
In short, by studying the underlying causes and symptoms of one rare disorder we can learn information and treatment options about at least a dozen others.
So why do we advocate? Because it works!
First, if you've read many of my posts you know that a big part of my perspective comes from a pro-life foundation. The great philosopher, Horton the Elephant, taught many of us as children that, "A person's a person no matter how small..." and it really is that simple for me. As long as there is life, we value, respect, and preserve the individual, no matter how small, ill, challenging or feeble. We find ways to support, educate, give comfort to, and encourage each person. Toward the end of the progression of Lorenzo Odone's struggle with ALD he was unable to breathe without assistance, he could not eat, he could not speak, and had only limited voluntary movements, but he struggled to stay alive, and he survived far beyond everyone's expectations. Some may ask, "What did he contribute to society?" and my answer is:
- Inspiration to continue the fight - How many people have seen this movie and gone on to face their own challenges, or the challenges of their loved ones with a new and stronger will to succeed. I know when we first learned our daughter's diagnosis I remembered Lorenzo's story, among others (like Helen Keller) of individuals with special needs that seemed almost insurmountable. Yet with the love, support, and advocacy of those around them they did overcome, in some tangible ways, and in some ways more spiritual and eternal. It gave me hope at a time that otherwise seemed very dark and bleak.
- Information about treatment options that did not exist before - Lorenzo's parents worked together with medical researchers to develop a treatment (Lorenzo's Oil) that was not available previously. They turned their desperate search for therapy into an option for early intervention in the course of the disease. My understanding is that this treatment is now in full clinical trials, but meanwhile many other young boys have seen some benefit from the Odone's quest.
- Instigation of new research efforts that will benefit others - The Odone family found that using Lorenzo's Oil arrested the degradation of Lorenzo's nervous system, but it could not undo the damage that was already done. The myelin coating around his nerves was already damaged and there is no known repair mechanism. Again, some would throw up their hands in despair, but the Odones determined to keep searching. They established the Myelin Project, whose sole objective is to search for treatments that repair and regenerate myelin. This is where the cost-benefit analysts may finally see the pay off. Myelin degradation is not unique to the disease of ALD. Some of the diseases we already know about include:
multiple sclerosis
idiopathic inflammatory demyelinating diseases)
transverse myelitis
Devic's disease
progressive multifocal leukoencephalopathy
Optic neuritis
other Leukodystrophies
Guillain-Barré syndrome
chronic inflammatory demyelinating polyneuropathy
anti-MAG peripheral neuropathy
Charcot-Marie-Tooth Disease
Vitamin B12 deficiency
In short, by studying the underlying causes and symptoms of one rare disorder we can learn information and treatment options about at least a dozen others.
So why do we advocate? Because it works!
Tuesday, July 27, 2010
Dealing with "Guilt"
As promised, I want to spend some time talking about "parent guilt." This is a big topic, and I'm not at all sure that I'll properly address it in one short post. The topic came up from watching Lorenzo's Oil a couple of weeks ago, which I reviewed last Wednesday. Briefly, it is the story of a family faced with a debilitating disorder affecting their youngest/only son (the father had children from a previous marriage). During part of the movie the parents are told that the disease is carried in the mother's genes (an X-linked mutation) and the mother's reaction is a textbook "guilt" response. She says something to the effect of, "You mean this is my fault?" and, for some period of time afterward, she cuts off contact with her family and pours all of her efforts into "fixing" her son.
Sometimes I am glad that autism has no "known" cause. There is evidently some genetic link and some environmental factor, and a piece of me dreads the day that it becomes better defined than that...particularly if it can clarify what exactly affected our own dear daughter. Genes are what they are...there is nothing that we can currently choose about what makes up our own DNA or which DNA gets passed along to our offspring; at least not until after the fact, and you can read how I feel about that here. Even environmental factors are hard to completely control. How many places do you see the signs that say "this area contains chemicals known to cause birth defects?" Do you keep your hand on the nozzle when you're pumping your gasoline? Is there lead in your pipes that you don't know about? It's a dangerous world. Somehow as a parent you want to shield your children from anything that can harm them and the knowledge that you might be in any way linked to something that brings trouble upon them is horrifying. I recall a day fairly early in our daughter's life when I was dutifully strapping her into her little infant seat and I inadvertently, sleep-deprivedly, somehow pinched her little tummy in the belt clip. I was so angry at myself I think I cried almost as many tears as she did. That little welt disappeared in just a few days. How will I respond if someday I learn it was my DNA or my former work as an organic chemist, or my...that leaves her struggling every day to interact with everyone around her in socially acceptable ways. I guess I decided I should start processing it all now...just in case.
Tuesday posts are about seeing what God says about these kinds of questions. Coincidentally (?) my pastor's daily scripture verse e-mail today said this:
I had actually been thinking about this exact passage in relation to parent "guilt" before I received this e-mail. I will probably need to study it more closely and may post more on the topic later. For now a few points are clear:
This post is participating in the Moms' 30-Minute Blog Challenge.
Sometimes I am glad that autism has no "known" cause. There is evidently some genetic link and some environmental factor, and a piece of me dreads the day that it becomes better defined than that...particularly if it can clarify what exactly affected our own dear daughter. Genes are what they are...there is nothing that we can currently choose about what makes up our own DNA or which DNA gets passed along to our offspring; at least not until after the fact, and you can read how I feel about that here. Even environmental factors are hard to completely control. How many places do you see the signs that say "this area contains chemicals known to cause birth defects?" Do you keep your hand on the nozzle when you're pumping your gasoline? Is there lead in your pipes that you don't know about? It's a dangerous world. Somehow as a parent you want to shield your children from anything that can harm them and the knowledge that you might be in any way linked to something that brings trouble upon them is horrifying. I recall a day fairly early in our daughter's life when I was dutifully strapping her into her little infant seat and I inadvertently, sleep-deprivedly, somehow pinched her little tummy in the belt clip. I was so angry at myself I think I cried almost as many tears as she did. That little welt disappeared in just a few days. How will I respond if someday I learn it was my DNA or my former work as an organic chemist, or my...that leaves her struggling every day to interact with everyone around her in socially acceptable ways. I guess I decided I should start processing it all now...just in case.
Tuesday posts are about seeing what God says about these kinds of questions. Coincidentally (?) my pastor's daily scripture verse e-mail today said this:
John 9
1 As he went along, he saw a man blind from birth. 2 His disciples asked him, “Rabbi, who sinned, this man or his parents, that he was born blind?”
3 “Neither this man nor his parents sinned,” said Jesus, “but this happened so that the work of God might be displayed in his life. 4 As long as it is day, we must do the work of him who sent me. Night is coming, when no one can work. 5 While I am in the world, I am the light of the world.”
6 Having said this, he spit on the ground, made some mud with the saliva, and put it on the man's eyes. 7 “Go,” he told him, “wash in the Pool of Siloam” (this word means Sent). So the man went and washed, and came home seeing.
How might God's MIGHT be displayed in your life today?
I had actually been thinking about this exact passage in relation to parent "guilt" before I received this e-mail. I will probably need to study it more closely and may post more on the topic later. For now a few points are clear:
- In Jesus' time his culture defined differences as being the result of individual sin, rather than understanding at least some (and perhaps most) as being the consequence of original sin. We live in a fallen, and therefore dangerous, world.
- Challenges can be an opportunity for God to reveal Himself to us and to those around us.
- God is powerful and no matter what we are facing, He is bigger.
- God is full of grace and mercy.
- Spending time pointing fingers may keep us from experiencing God at work...night is coming.
This post is participating in the Moms' 30-Minute Blog Challenge.
Sunday, July 25, 2010
Adrenoleukodystrophy (ALD)
My apologies for posting this late. I am battling off a head cold and sleep was more imperative than blogging last night.
Following up on Wednesday's review of Lorenzo's Oil, I thought you might like to know more about the debilitating metabolic disorder affecting the centerpiece of the movie, Lorenzo Michael Murphy Odone.
Adrenoleukodystrophy (ALD) is one of several diseases called leukodystrophies. ALD is an X-linked genetic disorder, and is very rare (1:42000). This means that a woman (xX) has a mutated X chromosome that can be passed on to both daughters and sons with a 50/50 chance each time that they will inherit the mutation. If a daughter (xX) inherits the mutation she most likely has a healthy X chromosome that can compensate for the mutated gene. Some women may have mild symptoms of these disorders but otherwise remain "carriers" in the gene pool. When a son (xY) inherits the mutation, he will have the disorder. [Duchenne Muscular Dystrophy (DMD) and Fragile X Syndrome (FX) have similar inheritance patterns...interesting] This point comes up during Lorenzo's Oil as Lorenzo's mother, Michaela, struggles with the knowledge that her DNA is the root cause of her son's debilitating disease. (More on this Tuesday...)
Perhaps the most devastating aspect of ALD is that symptoms do not manifest until a boy with the disorder reaches the age of 4-10. Until the symptoms appear every aspect of the boy's development will appear typical. At the outset of the disorder behavioral issues may begin to surface - tantrums, sensory disorder, followed by a decrease in visual, auditory, motor and oral functions. Gradually various bodily functions shut down until death occurs, usually within 10 years of the onset of symptoms.
The gene responsible for this mayhem was identified in 1993 (just after the movie came out). It encodes a "transporter protein" that is responsible for moving an enzyme around. Think of this transporter as the bus that the enzyme takes to work. If the bus breaks down the enzyme can't work. The enzyme is responsible for breaking down long chain fatty acids normally found in our diet. If the enzyme can't get to work the long chain fatty acids build up in the bloodstream. Somehow (no one quite knows how) these excess fatty acids then cause damage to the myelin sheath that surrounds the nervous system. Without myelin nerve cells cannot properly conduct the signals that keep all of our systems working.
The movie, Lorenzo's Oil, is about Lorenzo's parents working alongside and sometimes around the medical community to develop an experimental treatment for ALD. Lorenzo's Oil is actually a mixture of two very specific oils (they are components of olive and rape seed oils in the movie) that, together with a diet low in very long chain fatty acids, helps to lower and keep the level of long chain fatty acids low in the blood serum. A large scale clinical trial is underway to investigate the efficacy of this treatment. It seems particularly effective in cases where the patient is asymptomatic or has mild symptoms. If myelin damage has already occurred there is currently no method to repair that damage. Some other potential treatments include bone marrow transplant, stem cell transplants from cord blood, and some drug trials are underway.
You can read more about ALD, Lorenzo Michael Murphy Odone, and myelin here:
Following up on Wednesday's review of Lorenzo's Oil, I thought you might like to know more about the debilitating metabolic disorder affecting the centerpiece of the movie, Lorenzo Michael Murphy Odone.
Adrenoleukodystrophy (ALD) is one of several diseases called leukodystrophies. ALD is an X-linked genetic disorder, and is very rare (1:42000). This means that a woman (xX) has a mutated X chromosome that can be passed on to both daughters and sons with a 50/50 chance each time that they will inherit the mutation. If a daughter (xX) inherits the mutation she most likely has a healthy X chromosome that can compensate for the mutated gene. Some women may have mild symptoms of these disorders but otherwise remain "carriers" in the gene pool. When a son (xY) inherits the mutation, he will have the disorder. [Duchenne Muscular Dystrophy (DMD) and Fragile X Syndrome (FX) have similar inheritance patterns...interesting] This point comes up during Lorenzo's Oil as Lorenzo's mother, Michaela, struggles with the knowledge that her DNA is the root cause of her son's debilitating disease. (More on this Tuesday...)
Perhaps the most devastating aspect of ALD is that symptoms do not manifest until a boy with the disorder reaches the age of 4-10. Until the symptoms appear every aspect of the boy's development will appear typical. At the outset of the disorder behavioral issues may begin to surface - tantrums, sensory disorder, followed by a decrease in visual, auditory, motor and oral functions. Gradually various bodily functions shut down until death occurs, usually within 10 years of the onset of symptoms.
The gene responsible for this mayhem was identified in 1993 (just after the movie came out). It encodes a "transporter protein" that is responsible for moving an enzyme around. Think of this transporter as the bus that the enzyme takes to work. If the bus breaks down the enzyme can't work. The enzyme is responsible for breaking down long chain fatty acids normally found in our diet. If the enzyme can't get to work the long chain fatty acids build up in the bloodstream. Somehow (no one quite knows how) these excess fatty acids then cause damage to the myelin sheath that surrounds the nervous system. Without myelin nerve cells cannot properly conduct the signals that keep all of our systems working.
The movie, Lorenzo's Oil, is about Lorenzo's parents working alongside and sometimes around the medical community to develop an experimental treatment for ALD. Lorenzo's Oil is actually a mixture of two very specific oils (they are components of olive and rape seed oils in the movie) that, together with a diet low in very long chain fatty acids, helps to lower and keep the level of long chain fatty acids low in the blood serum. A large scale clinical trial is underway to investigate the efficacy of this treatment. It seems particularly effective in cases where the patient is asymptomatic or has mild symptoms. If myelin damage has already occurred there is currently no method to repair that damage. Some other potential treatments include bone marrow transplant, stem cell transplants from cord blood, and some drug trials are underway.
You can read more about ALD, Lorenzo Michael Murphy Odone, and myelin here:
Wednesday, July 21, 2010
Movie Review - Lorenzo's Oil
You may notice that I haven't reviewed very many movies here. My husband and I rarely get the chance to watch movies, even at home. By the time we get our kids in bed, even if we don't have some urgent pressing project it is usually too late in the day for us to consider beginning a full length movie, especially given that most mornings we have to get up early and start all over again. It's just a fact of where we're at right now. When we do get to watch a movie I feel guilty putting a movie in that's "just for me." Lorenzo's Oil definitely fit that description. I've been wanting to watch it again ever since I started blogging. I think the mere fact that my husband got into the movie almost as much as I did is in itself high praise. I first saw the film ca. 1994 while studying organic chemistry at Berkeley. I watched the movie with some fellow graduate students and we were all challenged by the strength of the characters presented in this story. Little did I know what inspiration they would later provide to me. There are so many facets to this story that I will explore several different related topics in the next several posts.
This movie came out in 1992 and depicts the true story of Lorenzo Michael Murphy Odone and his parents. Lorenzo's father, Augusto Odone (Nic Nolte), and mother Michaela Odone (Susan Sarandon) refuse to give up the search for a treatment or cure for their son's devastating metabolic disorder, adrenoleukodystrophy (ALD). They begin as many parents of special needs parents by seeking a diagnosis to explain Lorenzo's degenerating motor skills and behavioral issues. They take him to one of the world's foremost experts but bypass the slow lane of medical research and through their own study determine a course of treatment that eventually helps other boys with the same diagnosis avoid the cascade that leaves Lorenzo dependent on round the clock medical care for his every breath. They are able to arrest Lorenzo's "inevitable" decline and, though the movie was produced when he was fourteen, he far outlived the original prognosis of death by age 8 by surviving to age 30. He is survived by his father.
The cinematography in the movie is stunning and of highest quality. There are highly dramatic scenes that left me fighting back tears, or just letting them flow. The emotional roller coaster of confusion, assurance, despair, determination, disappointment, guilt, love, joy, and perseverance are beautifully depicted. There appear to be some minor variations from the "true" storyline to heighten the drama of the movie, but the overall parents' quest to support, cherish and cure their son is well documented.
I invite you to go deeper into this story with me in the next few posts, but for now I highly recommend viewing this film if you haven't already...and maybe even if you have.
Subscribe to:
Posts (Atom)
LinkWithin
