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:

• 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!

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:

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.

So as long as it is day I will work and live in the Light.

This post is participating in the Moms' 30-Minute Blog Challenge.

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:

• ALD
• Lorenzo Odone
• Myelin Project

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.

Sunday Digest 20

Hard to believe I've written twenty of these "best of the web" for special needs parents...is that a milestone or what? No particular theme this time around, just some mesmerizing stories - thought provoking and perhaps frustrating...


1) Let's start with the frustrating and get that one out of the way so we can have some fun. In case you were living under the balmy delusion that our society is beginning to accept the importance and the responsibility of providing appropriate education for students with special needs, well...you may not WANT to read this post at Autism Unexpected, but you SHOULD. Look over the comments. I had a hard time pulling myself away from them in that sort of "horror movie" shock where you don't want to look, but you just have to. I couldn't resist adding a couple of comments of my own.

2) This post by Insideout510 over at Hopeful Parents is decidedly more, well, hopeful. It shows the kind of pro-active-get-involved-never-say-quit kind of special needs parenting that someday may keep those naysayers in the previous entry in their place. I applaud the energy and time this parent was able to put into giving her daughter a Summer to remember, forever.

3) I enjoyed the perspective of this piece at Specialgathering. Will your legacy be one of a few shining relics hotly traded by enthusiasts or a quiet on-going producer and provider of useful goods and livelihoods?

4) This post by Bird on the Street offers a new perspective on the vaccine controversy, and a different approach similar to what we used with our twins when we found out shortly after they were born that our daughter might be on the autism spectrum. Katy mentions The Vaccine Book by Dr. Robert Sears, which sounds like an excellent resource on the topic.

5) Sticking with my recent practice of posting a link to an encouraging worship song, I hope you'll enjoy this one by Casting Crowns. Our Sunday School lesson today was (in part) about how God makes each of us unique and loves us not because of who we are or what we do, but because of who He is.

Looking Forward

Leafy Sea Dragon at the Steinhart Aquarium...the coolest thing I saw there. I am enchanted by these creatures.

This is a very fresh thought, and I must be brief, so this may not be the most refined post. Somehow it does help to write these things down, I think, so bear with me.

Today should have been a pretty fun day for our kids. We have guests visiting from out of town. We had decided to visit the Steinhart Aquarium, but our family had to leave a little earlier than our friends because our oldest daughter is participating in a social skills "Summer Camp", there are no excused absences, and it isn't cheap (though I think it has been worth the money). After that we shared a BBQ dinner and a late swim with our friends before returning home. It was a long day, not very routine, but still, fun! Right?

Well, even though I explained the days events to the child, and the aquarium was truly among the most amazing places we've been to as a family, she did not enjoy much about the aquarium. This bothered me, and I couldn't figure out why she was so eager to leave. At every turn, "Let's go back to the elevator." Was her way of saying: I'm done with this place, I want to move on.

Yet - she didn't want to move on to her class, even though it's been a good experience for her so far. She really wanted to go home, and tried several lines of reason (all rather humorous) for why we should go home. In the end when we arrived at her class she didn't really resist it, she behaved well throughout the class. There were many reasons she could have lost it, but she didn't. My weary Mommy brain kept trying to puzzle out why she wanted to go home. After class it was kind of the same deal. "Why are we eating here? Where are our friends eating? Are they going home before we do?"

We ate, we swam, I had set up some cookies and decorating supplies to occupy the kids while we cleaned up our dinner, but the child declared she wanted her cookie at home. Suddenly I realized what was going on. We had to take two vehicles to the aquarium this morning, and my husband decided it would be fun to divide into boys and girls since between the two families these are evenly split. He even went so far as to move our son's car seat to the other car so he could be one of the boys. This turned out to not be a great idea, but that is a different story for a different time...In any case our daughter was disappointed that she couldn't ride in our friend's car, so we told her she could ride in their car, "ON THE WAY HOME." Hello?? All day long where did she want to go? HOME! This seems almost ludicrous in my logical adult brain...all of these fun activities that she only marginally enjoyed because she spent most of the day wondering when she was going HOME so she could ride in a new car (always exciting!) Would the whole day have been that much more fun if we had just let her ride "with the boys"? Gotta wonder.

It did make me realize that I need to be sure she has a shorter term "exciting thing" to look forward to. A promise for something happening at the end of the day is not beneficial to the early part of the day.

It also makes me wonder how many times I'm looking forward to "something" that is so far down the road that I let it make the present look bad, even though it might be really good. At least God understands better than I did today, but how much more would I enjoy life if I didn't look so far into the future?

Changing Schools - Part Two

This post is the second in a series on transitioning to a new school. My Monday posts will focus on this topic for several weeks because it is a large and complex topic. Also, this post is participating in the Moms' 30-Minute Blog Challenge at Steady Mom. You can catch up with the series by reading Part One here.

So far I've told you about our school district changing our daughter's placement to our home school, my intial emotional responses and the choice we eventually made to accept her transition to a new school. That choice was made primarily because we wanted to give her the best chance for a well-supported change to a new environment and a new social circle. I wanted to share the details of our transition plan in hopes that it will help others in a similar situation to establish their own good plans. Please note that this was separate from considering the level of support, services, and IEP goals for the next year...this was just to focus on helping her understand and be comfortable with starting out at a new school.

1) We gathered information. Prior to telling our daughter anything about what was going on, I met with some trusted private resources, the principal at the new school, and the IEP team at her "old" school to ask questions, get advice, request some accommodations or support, and establish lines of communication. All of this helped the next steps fall into place...

2) We broke the news. We used a social story to tell our daughter that she'd be going to a different school next Fall. I'll share more details on this next post. The timing was not ideal, but the story was very effective in helping her understand what was happening, helping her share the news with her peers, and giving us an idea of what was most troubling to her about the change.

3) We took some field trips. My daughter and I attended open house night in the first grade classrooms at the new school. We met the teachers (although some of them will not be teaching first grade next Fall), and we took pictures of things that were interesting to her. Later we took a special guided tour with an instructional support teacher (IST) and met the Occupational Therapist and Speech Pathologist who will work with her at the new school. [In our case she already knows these ladies, but it was good for her to see them ahead of time at her new school - she has pretty strict ideas about who belongs where, so seeing them there before she has to start working with them there was excellent.] She also met the school psychologist, the receptionist, the principal, and a few other staff who were around. We took lots of pictures on this trip, too. Nearly every week we walk over to the new school to play on the playground and try to connect with other children there

4) We wrote another social story. The IST used some of our photos and some of hers to make another story specifically about the new school. It has pictures of all of the people we've met, and some key places like the playground, the lunch room, the computer lab, and the library.

5) We called some friends. We already know a few families with children entering first grade at the new school. We've had a couple of playdates with a couple of them at the school. We're hoping to do a few more of these in the next several weeks so that our daughter will have some more familiar peer relationships established.

6) The adults met again. We had a transition IEP meeting (I believe these are required any time a student transfers between schools) where the "old" IEP team met with the "new" IEP team (there is some overlap in these in our case) to discuss our daughter's program, and the specific supports that she will need this coming year. At this meeting I also presented an updated parent report and walked through the remaining steps of the transition plan.

7) We will prime the pump. What remains is to continue to prepare our daughter for each new step of entering first grade. She will meet her teacher before school starts, and hopefully visit "her" room again, this time knowing it is "hers". We will either add these pieces to her second social story or write a new one. As each activity is added to her schedule we will make a visual schedule to help her know what is coming next. Hopefully we can continue to support making new friends, too.

There are probably other steps that could be taken to help a child be more comfortable going to a new school. I'd love to hear your ideas since we're still in the middle of this...do share!

Salute to the Salutatorian

This is old news. Almost a month old to be precise. In this day and age I suppose that is almost obsolete, except...I don't think this story will ever grow old. It is the story of triumph, determination, and encouragement for others to do the same. I didn't really connect with it until I read this Examiner blog. Then I hopped over to the written news story and watched the embedded video. By the time I reached the last step I knew I had to post it again. It's probably been making the rounds of blogs, twitter, facebook, etc. but if even just one more person sees this and gains the courage to carry on it will be worth the several who read and say, "Oh yeah, I heard about this already." Even if you did hear about it already...do try to read with fresh eyes and listen with fresh ears. It might hit you in a different way. Timeless tales have a way of doing that.

Eric Duquette lives in Rhode Island. He was non-verbal at age 5 as he entered Kindergarten, newly diagnosed with autism. The news is that he just graduated from High School as the Salutatorian of his class. His GPA ranked second among his 200 classmates. The advocacy includes:

• his parents, who worked with speech professionals and on their own to help him gain vocabulary and make progress learning emotions, etc 
• his classmates - it is obvious they are thrilled with his achievements
• his teachers - from Kindergarten through High School I'm sure they went above and beyond to bring out the potential in this young man
• and himself - the humor and even wisdom Eric expresses in his speech is heart-warming to say the least.

If you watch the video you will see that he looks mostly at the podium (except for one shimmering smile, greeted by applause and cheers!) and the prosody of his speech is stilted. However, this young man, who according to some professionals would end up in an institution, is bound for college and hopes to become a pharmacist. He encourages his classmates to, "not allow yourself or others to be defined by your limitations but rather abilities." I hope he will continue to find the support and resources he needs to live out that motto. He has a good start.

Meanwhile, I am encouraged as I consider the long road in front of our family. Our daughter will begin 1st grade this year. She has already made so much progress that I am often amazed. It has not been easy, nor do I expect it to be easy in the future, but I will hold on to the hope held out in the example of Eric. I hope others will also be encouraged to overcome their own limitations and maximize their abilities; and to advocate, support and encourage others so that they can do the same.

Never underestimate...

Angels Part Eight - Discernment

This is the last of eight posts based on the Bible Study Guide "Angels" by Douglas Connelly, A LifeGuide Bible Study. Today's study is based on John 4:1-6, where the apostle John teaches us to test the spirits. There are two potential pitfalls one could fall into when considering "spiritual experiences" like angel sightings or faith healings. One error would be total skepticism. If one discounts all supernatural events they will miss out on what God is up to. The other error would be total openness, in which one falls for everything and is vulnerable to be led into more error.

By John's instruction, spirits that acknowledge Christ incarnate are from God. He also tells us that "whoever knows God listens to us [the apostles]." From this we can know whether or not spiritual encounters are on the straight and narrow. They must be in line with the teachings of Jesus and the apostles. They must not deny the God-Man nature of Jesus. Most importantly, John reminds us that "the one who is in you is greater than the one who is in the world." We have the Holy Spirit, and He will guide us into truth. Above all we must not judge by mere appearances. Paul reminds us in II Corinthians 11:14 that even Satan masquerades as an angel of light. So even confronted by a glorious "angel" we must know scripture and be able to evaluate the angel's message against the measure of God's word.

Prader-Willi - Insatiable Hunger

Since entering the blogging world of special needs a little over a year ago I have seen the diagnosis Prader-Willi Syndrome (PWS) mentioned a few times, but did not know what it meant. It is a relatively rare genetic disorder, occurring approximately every 1 in 15,000 births. It occurs equally between females and males and in all races. The genetic abnormality results from some missing DNA on the 15th chromosome. These genes are normally contributed by the father, but 70% of cases occur as a non-inherited deletion (random or sporadic deletion). Common symptoms include low muscle tone (hypotonia), short stature, incomplete sexual development and metabolic issues. The classic baby born with PWS has low birth weight and poor sucking ability, leading to a failure to thrive. This is generally thought to be related to poor oral motor development. Then between the ages of two to five the poor feeding is turned on its head and becomes an insatiable hunger (hyperphagia). These children are literally always hungry, and because of an inefficient metabolism (low muscle content) food intake must be closely monitored to avoid life-threatening obesity. Often the kitchen and other food storage areas must be locked to control intake. Older individuals with PWS can often control their weight better by living in a group home where food access is restricted. PWS is the most common genetic cause of childhood obesity. If a doctor suspects PWS, genetic testing can confirm the diagnosis. Related conditions include motor skill delays, behavior problems, social delays, learning differences, and other medical issues.

 Abnormal hypothalamus activity is thought to cause the compulsive eating in PWS. To date there is no medication or surgery to address this facet of PWS. Usually with the onset of hyperphagia behavioral issues also surface, although they are not necessarily food-related. Transitions and surprises are challenging and met with tantrums, obsessive-compulsive tendencies, or perseverative activities. Other symptoms of PWS are treated with growth hormone. Hormone treatment can reduce the impact of muscle weakness and decreased stature.

To learn more, check out http://www.pwsausa.org/ and medical home portal
Some blogs by parents of children with Prader-Willi:

Diving Into the Waves
Finding Joy in Simple Things