Tag Archives: opinion

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The Cost of Breath

Despite having a “fatal illness”, with a little technology and someone to keep an eye on me for the inevitable adjustments, I can live until age draws the final curtain on the story of my life. My quality of life remains high regardless of my current certain physical limitations. There is nothing wrong with my mind: I am still as intellectually productive as ever.

Nothing would please me more than to earn my own keep (and I am not alone in this desire), but people classified as terminally ill don’t appear to be considered viable members of the workforce. So I volunteer my time to raise awareness and try to understand relevant research, sharing what I learn with others (a part of my previous career and the genesis of this blog). I find this work fulfilling and it keeps my opinion of my quality of life quite high, focusing on accomplishment rather than loss. Those close to me can attest that I can get cranky between projects when I have nothing to do so I try to stay busy. As I am quadriplegic I must use a computer system that tracks my eye movement to approximate the use of a mouse. With this computer I write and respond to email and online chat offering technical advice and answering questions from other PALS, scour the Web for research information, create videos to promote awareness, created a website (with coding assistance from a friend far more skilled than I), and play with my home computer network among other projects.

The decision to vent or not is a highly personal one with many factors contributing to the decision. I chose to live on a vent for a few reasons. First, I had finally recently achieved real happiness in life and didn’t want the dream-come-true to end so soon. Second, I saw some hope on the horizon with the state of research into the disease and possible ways to overcome it and I still hold this view more than ever. Last, and important to my perception of quality of life, I still had a contribution to make to the world and I have only grown more intense in that belief. I am simply not done living, with all which that experience entails.

But my every breath now comes at a price. Because I cannot move to assist myself I must have an able-bodied person within hearing distance of any alarms or signals from my equipment. The skill requirements aren’t high and can be taught in a weekend, but nevertheless someone must be alert and on duty 24/7. Family is often preoccupied by the demands of daily living, volunteers are few and far between, and government assistance is non-existent for people in my condition. The one factor which should NOT be involved in deciding whether to live on a vent is the cost of attendants. Medicare will not provide for in-home attendants. There are even very few institutions which will take people on mechanical ventilation and hospice is not an option due to the vent being a life support device. With the enormous wealth floating around our for-profit healthcare system it is astounding that no insurance (not even my high-end corporate policy) will cover the cost of attendants. So my only option, given my desire to live, is to become a beggar on an offramp of the information superhighway. This is terribly humiliating to me.

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More Press

As many of you may already know, I was recently featured in an article in the Santa Cruz Sentinel. There was a lot of information to cover and I applaud Laura for getting it all in there.

I did want to clarify some points:
First (and least), I was the web group sysadmin for Lutris, building and maintaining the internal and external web infrastructure, and the I.T. manager for Mercedes-Benz Research & Development.
Second, regarding vents, my point was that due to the costs involved, many never have a choice. Some make a choice not to vent, and I respect that. However, due to the financial expense, for many the choice is made for them regardless of their desire. This deprives the world of many potentially productive and engaged people, and is an ongoing concern of mine.

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A Possible Cause

For some time it appeared that the inclusions found in the cytosol of neurons in degenerative disease were causing the disease, likely due to disruption of movement of organelles and proteins up and down the axons. But evidence is now suggesting that may not be the case. With TDP-43, it appears that depletion of it from the nucleus is the cause of disease. With SOD1, an unknown toxic gain of function is still theorized. However, a recent study reported that mutant SOD1 interacts with TDP-43 where normal SOD1 did not. Conflicting previous studies have found and not found misfolded SOD1 inclusions in the motor neuron cytoplasm of sporadic ALS patients, though a study using novel antibodies specific for denatured SOD1 reported small inclusions in all tested SALS patients. SOD1 is a highly complex protein and such are easily misfolded. Usually this is no problem as either chaperones refold the protein or intracellular autophagy destroys the errant protein. But age and stress can cause autophagy to decrease in effectiveness, possibly leaving errant proteins in the cell where they can do damage. So assuming that mutant SOD1 is present either by genetic mutation or routine misfolding not corrected or cleared by the cell, and assuming interactions between mutant SOD1 and TDP-43 where TDP-43 is depleted from the nucleus, it could be held that mutant or misfolded SOD1 causes disease through depletion of nuclear TDP-43.

Activation of the glial cells (astrocytes, microglia, etc.) is a driving force in ALS progression. Experiments where mutant SOD1 was limited solely to the glia demonstrated the ability to drive disease on their own. In the case of inherited forms of ALS where particular mutated genes produce mutated forms of proteins throughout the body it is easy to imagine disease spreading rapidly once initiated. But what drives the more common sporadic forms? A clue might be found by looking at prion disease. In fact, a recent study shows that Huntington’s Disease may very well spread this way, and it may be applicable to other neurodegenerative diseases. Indeed another study found that extracellular SOD1 can induce microglia to release pro-inflammatory cytokines and free radicals which promote motorneuron damage. A more recent study showed that introduced mutant SOD1 can induce disease. The biotech company Amorfix makes antibodies against extracellular mutant SOD1 and is now in trials to use these antibodies as a vaccine against ALS.

So with mutant or misfolded SOD1 we have multiple paths for disease as well as a likely pathway for spread of disease. Each of these questions are comparatively easy to test and seemingly easy to intercept in the extracellular space. I look forward to more studies to further illuminate these questions.

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Press Release

This is a press release I created to help us get our story of struggle out to the media. Please cut and paste the text below and put your own contact information in the Contact: line then send to your local media with a cover letter explaining your own struggle and advocacy activities. With enough synchronous distributed local coverage we can generate national interest. If you can’t cut and paste then email me and I will send you a copy.

YOU are the story. But together we can create the change we demand.

——–(cut and paste below)————

People with ALS Changing Their Own World


Much like the people in the Middle East, people here at home who are subject to another kind of tyranny are using social media such as Facebook, Twitter and Youtube to organize and spread the word about their condition. These people are known as PALS, or Person(s) with ALS.

ALS, commonly known as Lou Gehrig’s Disease after the famous baseball player who died from it, is a progressive and incurable deterioration of the nerves controlling voluntary muscle movement. This leaves the person totally paralyzed and eventually unable to even breathe. Because the expected lifespan from diagnosis rarely exceeds five years, the population of living PALS is low and those living aren’t able to make themselves into public figures.

Until now.

With the advent of social media, as well as the technology of mobile computers with eye-tracking input systems and text-to-speech synthesis, PALS are able to compete on an even footing in cyberspace with more physically capable people. Many of these PALS are in serious medical conditions such as near total paralysis and some on mechanical ventilation via tracheotomy. As the astrophysicist and PALS Stephen Hawking said, “My body may be crippled but my mind is free.”

Unsatisfied with the level of advocacy and awareness generated by organizations with that as their claimed mission, PALS are doing it themselves and placing pressure on those representative organizations to change old operating procedures. Other organizations representing other medical conditions are very vocal and aggressive in public awareness (the foundation of funding and national priority for research) and this new group of PALS demand commensurate action from the organizations representing them.

Examples of the new paradigm are:

• an emergency Facebook movement to transfer one PALS from an abusive institutional care facility to an entirely new fully automated care facility (which was designed by another PALS who was also the first resident)

• the “Often Awesome” serial documentary of a PALS’ life with ALS from diagnosis to current time

• various Facebook groups including a direct petition to the ALS Association

• a movement to draft a Hollywood star as a spokesman

• use of the popular video creation site xtranormal.com to craft and distribute their own Public Service Announcement

Facebook as a corporation is aware of this group of PALS and recently invited a few to its Palo Alto, CA, headquarters to take part in a documentary being aired in March, 2011, on MTV. The documentary will be about how various groups have used Facebook to effect change.

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Public Service Announcement

This is a little video I put together. It was a bit of work to do with my optical tracking system. I need your help getting it distributed so please share via Facebook, Twitter, email, whatever.

Some may wonder why I didn’t mention the ALS Association (ALSA). ALSA to this date refuses to mount a national PSA campaign like other more successful organizations, so I did my own. The two organizations I did mention I feel are more effective. But this is really about awareness so please help me and many others get the word out.


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Apollo 13

“Houston, we have a problem.”

Apparently you can’t believe everything you read. Whether it is a problem of vanishing results, reliance on unrepeatable or outdated information, or the fact that not all publications are created equally, there seems to be a serious problem with relying on medical publications. While research papers provide valuable clues, only after those results are repeatedly verified can they reach the status of fact. And even that could change over time as the sample set grows beyond what is practical for a single study.

It seems that even rigorous science can fall prey to the human failing that people see what they want to see. This results in selective reporting as well as selective publication (rarely do negative results get submitted). And in the pharmaceutical industry there is the ever-present threat of monetary corruption. Note that this should not create a panic of Nihilism, but rather instill healthy skepticism and diminish false hope.

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Medical Tourism

It’s been over a month since my last post. A couple of interesting things have come over the transom but nothing really compelling for me to write about. Also I have been busy in other areas.

Something compelling did show up today. An article on Nature Magazine’s website concerning the controversy around stem cell medical tourism and the difficulty in regulation. While stem cells offer tremendous potential, the science necessary to fully and safely exploit that potential is still in its infancy. However, because of the potential, the desperation of people afflicted with horrible disease, and the ability to conjure and proliferate medical buzzwords over the Internet, the unwary and uninformed are preyed upon by the immoral and unscrupulous.

As can be demonstrated by reading my previous entries, I am a firm believer in stem cell technology. I am anxious to participate in one or more procedures in the hope of regaining function. But the science needs a little more time to develop. Anyone offering or advocating a stem cell “therapy” is either lying or deluded. Several clinical trials are underway or will soon commence (some of which I have previously discussed). But for now, I urge the reader to save your money and preserve your health by not succumbing to the siren song of an exotic “miracle cure”.

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Like VoIP (Voice over IP) for phones, the Internet also carries “Radio” over IP. I will be participating in an online radio show, The Global Voice with Susan Piontek. I will be joining ferocious advocate Michele Dupree of Carnival for PALS, Mike Miller, the founder of ROALS, and Mike Shannon of ALS-TDI. The show will air tomorrow, Wednesday, September 1, at 5pm PDT. This may be “today” for those of you who subscribe to this blog via email.

The subject will, of course, be ALS and I will be providing my view of things from the perspective of a PALS. This show will actually be Part 2 of last week’s show which ran out of time as the subject has so many facets. That show is archived online at this link. Because I am on a vent and can’t speak, I have prepared responses to some questions which were provided in advance. My wife, Claire, will read them live and I will edit this post on Thursday to include them (as well as a direct link to the archive). Listen live and either call in with questions or type into the simultaneous web chat. Maybe you’ll hear me do my Stephen Hawking impersonation!


The archived version of Part Two can now be found here.

My Q&A transcript follows below:

Q: Tell us about yourself and how ALS has changed your life?
A: At the time of diagnosis I was 36 years old, had a wonderful career in Information Technology and had just taken a position to manage the computer network infrastructure of the US research and development program for an automobile manufacturer. I had a little house on the shore where my wife and I could walk down the hill to celebrate our wedding anniversary by surfing together (also our first dating activity). I had everything I wanted and was extremely happy in my life. Then all of that was removed piece by piece. I am now quadriplegic, we are about to move to my parents’ house, and I require a machine just to breathe. Fortunately the Internet is a great physical equalizer so I can continue my online life somewhat unchanged. Unfortunately, I now have plenty of time for Facebook.

Q: What would you like people to know about ALS; the disease, the current research, the expense?
A:Words will never be able to adequately express the pure horror that is ALS. You can feel pain but not move to avoid it. You can feel hunger and thirst but never consume to slake. Dignity is utterly destroyed. There is no other condition with the same combination of helplessness and misery. There is no risk factor or behavior which brings this curse, and not nearly enough is being done to end it. There are many fine people working to solve this but their work isn’t supported enough and there aren’t enough of them. PALS don’t have time to wait. The technology is recently available to adequately study the problem so the only thing needed is money. As Dr. Stan Appel testified before Congress, “ALS isn’t incurable, it’s underfunded.” The research is beginning to zero in on things that can make truly effective therapies and a few promising clinical trials are just starting or will soon. For the meantime, medicine has gotten quite good at dealing with the symptoms of ALS and Medicare pays for it. However, on the most crucial aspect only half measures are available. While ventilators and supplies are paid for, the people necessary to maintain the equipment, handle alarms, and assist with personal issues are not. Family members, when they exist, are destroyed from the combined physical and emotional strain. The cost for attendants is high and has bankrupted me. PALS can be productive in society with proper support and I am living proof. In addition to other activities I have begun to lobby ALSA to be more aggressive in public education and to persuade Congress to amend Medicare to pay for in-home vent care.

Q: What can people do to help?
A: The easiest way to help is to support an organization like TDI. But that is too passive. Our society likes to write a check, push a button, take a pill, then forget about the initial problem. That level of commitment doesn’t cut it. In _addition_ to a financial contribution, more people need to follow the lead of the 3 Ms and agitate. Write a letter to ALSA demanding national television PSAs with a current A-list celebrity. Write a letter to your Congresscritter demanding changes to Medicare so PALS don’t opt for death in the face of daunting costs (I have a year-long debate going with a friend who is facing ventilation). If you know of someone with ALS, keep that person’s name in the local press. Write to the TV news networks demanding more coverage of this silent crisis. The more people who are aware of ALS, the more demand for a solution results in more action, more funding, and more participation from the industry. And use social media to reach out and coordinate activities. 10 voices are easy to ignore. 10,000 not so much. I and a group of PALS use social media every day to connect and coordinate. The services are free, very easy to set up, and have global reach. I have my blog and a Facebook page to recruit an A-list celebrity. If I can do this, someone with functional hands certainly can.

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Poor SOD

There has been a question whether SOD1 plays a part in sporadic ALS (SALS) as well as familial ALS (FALS), in which one of a large number of inherited defects in the SOD1 gene cause alterations (misfolding) of the SOD1 enzyme which it encodes. A recent study published in PLoS ONE suggests that misfolded SOD1 is present in all cases of ALS, not just in those involving genetic defect. Some previous studies have had similar results while others have not. Apparently this study used a fairly aggressive set of antibodies to detect inclusions (flaws) in the motor neurons which consisted of SOD1. Whether the misfolded SOD1 or the inclusions/aggregates that result are the cause of disease is still being questioned, although disease effects can be seen prior to visible aggregates forming.

Two things about this study I found interesting:

First, the study reported that the inclusions were found mostly in the axon hillock which makes me wonder if this can be related to the slowing of axonal transport which is a very early event in ALS.

Second, if you look at the diagram in the SOD1 link above, you can see that it is a rather tight and highly complicated enzyme to fold. A mutation may make it more difficult or impossible for a lysosome to break down. Lysosomes are rather important cellular components. The subject study indicates that the misfolded SOD1 found in the motor neurons co-localized with lysosomes, suggesting that the lysosomes were choking on the mutant enzymes. Lysosomal dysfunction has already been linked to several diseases, including neurological. It is known that lysosomal function degrades with age, and ALS is an age-related disease (both SALS and FALS begin after decades of otherwise normal life). At least one study is being conducted, attempting to address ALS by means of increasing lysosomal function.

Of course, this assumes a “neurocentric” view of the disease, where the pathogenesis is in the neuron itself. Recent research suggests this may not be the case, and that some upstream event triggers the cascade that leads to distress and death of the motor neurons. It is this “missing link” that continues to confound researchers.