Posted 3 days ago

Now THIS would be ALS/MND Patient-Centric behavior …

ALS Advocacy
Lou Gehrig’s Disease - Motor Neuron Disease - Amyotrophic Lateral Sclerosis
Thought it had been cured by now? Still no known cause. Still no cure. Still quickly fatal. Still outrageous.

Wednesday, April 16, 2014

Now THIS Would Be Patient-Centric

"I feel like I’ve left tissue all over the country." — Words of a man with ALS

Today there are countless opportunities for people with ALS and their healthy relatives to give blood and skin and fingernails and all kinds of tissue samples for ALS research.  Unfortunately the donors are treated like renewable sources of tissue rather than valued people.  Researchers who often brag that they work together all gather their own samples for their own needs.  It’s not about the patients. It’s about their immediate research needs. 

Picture this.

A person diagnosed with ALS is given a unique identifier on the day of diagnosis.  Maybe even a nice card with a bar code is included.  After that, every medical record, every blood sample, every MRI, every test result includes that identifier.  A person’s information and samples are suddenly connected with the person rather than with a scientist.  And shortly after diagnosis, people with ALS are offered the opportunity to opt-in to a master bio-bank.  The tissue isn’t stored in one place, but the information about where the tissue samples reside is stored centrally.  It’s called patient-centric. 

Think about the way your tire store can find a set of tires that fit your car overnight, even if two tires come from a warehouse in Saint Louis and two from a warehouse in Cleveland.

When a researcher or a pharmaceutical company needs a random set of blood samples from people with C9 genes, they can get them.  When a researcher needs a completely random set of skin sample from people with ALS, they are accessible.  When a research needs some blood from young SOD1 male PALS with slow limb-onset, they can get them.

Fix the information problem  Fix the center of attention.  It’s the patient.  Donate once, use many times.

This would be patient-centric.

Next time you hit a chuckhole and need a new tire, think about the days when Lou had to wait for the factory to make more 4.50x21s to fix the Model A.
Posted 2 weeks ago

The origin of Lou Gehrig’s disease may have just been discovered …

Two very hopeful news items in a single week.

 1.    The origin of Lou Gehrig’s disease may have just been discovered

 2.    Patient stem cells help identify common problem in ALS

Discovery will lead directly to clinical trials

Posted 2 weeks ago

2 More ALS R&D “Breakthroughs” in March 2014 … hope it doesn’t take another 7-10 years to introduce these to HUMANS

 I don’t think I have that long …


Experimental stroke drug also shows promise for people with Lou Gehrig’s disease

Date:  March 3, 2014

Source:  University of Southern California - Health Sciences


Neuroscientists have found that early muscle impairment related to Lou Gehrig’s disease, also called amyotrophic lateral sclerosis, or ALS, in mice is proportional to the degree of damage to the blood-spinal cord barrier, which protects the central nervous system from toxins. Repairing damage to and restoring the blood-spinal cord barrier’s integrity with an experimental neurovascular medicine being studied in human stroke patients appears to delay disease progression.

Credit: Photo courtesy of Ethan A. Winkler and Berislav V. Zlokovic/University of Southern California

[Click to enlarge image]


A fluorescent image shows cells of the neurovascular unit in the mouse spinal cord, which consists of motor neurons (green) and blood vessels containing pericytes (red) and endothelial cells (blue). Winkler et al. show that disruption of blood vessels accelerates injury of motor neurons in amyotrophic lateral sclerosis.

Keck School of Medicine of USC neuroscientists have unlocked a piece of the puzzle in the fight against Lou Gehrig’s disease, a debilitating neurological disorder that robs people of their motor skills. Their findings appear in the March 3, 2014, online edition of the Proceedings of the National Academy of Sciences of the United States of America, the official scientific journal of the U.S. National Academy of Sciences.

"We know that both people and transgenic rodents afflicted with this disease develop spontaneous breakdown of the blood-spinal cord barrier, but how these microscopic lesions affect the development of the disease has been unclear," said Berislav V. Zlokovic, M.D., Ph.D., the study’s principal investigator and director of the Zilkha Neurogenetic Institute at USC. "In this study, we show that early motor neuron dysfunction related to the disease in mice is proportional to the degree of damage to the blood-spinal cord barrier and that restoring the integrity of the barrier delays motor neuron degeneration. We are hopeful that we can apply these findings to the corresponding disease mechanism in people. "

In this study, Zlokovic and colleagues found that an experimental drug now being studied in human stroke patients appears to protect the blood-spinal cord barrier’s integrity in mice and delay motor neuron impairment and degeneration. The drug, an activated protein C analog called 3K3A-APC, was developed by Zlokovic’s start-up biotechnology company, ZZ Biotech.

Lou Gehrig’s disease, also called amyotrophic lateral sclerosis, or ALS, attacks motor neurons, which are cells that control the muscles. The progressive degeneration of the motor neurons in ALS eventually leads to paralysis and difficulty breathing, eating and swallowing.

According to The ALS Association, approximately 15 people in the United States are diagnosed with ALS every day. It is estimated that as many as 30,000 Americans live with the disease. Most people who develop ALS are between the ages of 40 and 70, with an average age of 55 upon diagnosis. Life expectancy of an ALS patient averages about two to five years from the onset of symptoms.

ALS’s causes are not completely understood, and no cure has yet been found. Only one Food and Drug Administration-approved drug called riluzole has been shown to prolong life by two to three months. There are, however, devices and therapies that can manage the symptoms of the disease to help people maintain as much independence as possible and prolong survival.

Story Source:

The above story is based on materials provided by University of Southern California - Health SciencesNote: Materials may be edited for content and length.

Journal Reference:

  1. E. A. Winkler, J. D. Sengillo, A. P. Sagare, Z. Zhao, Q. Ma, E. Zuniga, Y. Wang, Z. Zhong, J. S. Sullivan, J. H. Griffin, D. W. Cleveland, B. V. Zlokovic. Blood-spinal cord barrier disruption contributes to early motor-neuron degeneration in ALS-model miceProceedings of the National Academy of Sciences, 2014; DOI:10.1073/pnas.1401595111


  1. II.            Key player in motor neuron death in Lou Gehrig’s disease identified


Key player in motor neuron death in Lou Gehrig’s disease identified

Date:  March 26, 2014

Source:  Nationwide Children’s Hospital


Amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, is marked by a cascade of cellular and inflammatory events that weakens and kills vital motor neurons in the brain and spinal cord. The process is complex, involving cells that ordinarily protect the neurons from harm. Now, a new study points to a potential culprit in this good-cell-gone-bad scenario, a key step toward the ultimate goal of developing a treatment.

Amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, is marked by a cascade of cellular and inflammatory events that weakens and kills vital motor neurons in the brain and spinal cord. The process is complex, involving cells that ordinarily protect the neurons from harm. Now, a new study by scientists in The Research Institute at Nationwide Children’s Hospital points to a potential culprit in this good-cell-gone-bad scenario, a key step toward the ultimate goal of developing a treatment.

Motor neurons, or nerve cells, in the brain and spinal cord control the function of muscles throughout the body. In amyotrophic lateral sclerosis (ALS), motor neurons die and muscles weaken. Patients gradually lose the ability to move and as the disease progresses, are unable to breathe on their own. Most people with ALS die from respiratory failure within 3 to 5 years from the onset of symptoms.

For the study, published online this month in Neuron, researchers examined a protein involved in transcriptional regulation, called nuclear factor-kappa B (NF-κB), known to play a role in the neuroinflammatory response common in ALS. NF-ƘB has also been linked to cancer and a number of other inflammatory and autoimmune diseases.

Using animal models, the researchers studied disease progression in mice in which NF-ƘB had been inhibited in two different cell types — astrocytes, the most abundant cell type in the human brain and supporters of neuronal function; and microglia, macrophages in the brain and spinal cord that act as the first and main form of defense against invading pathogens in the central nervous system. Inhibiting NF-ƘB in microglia in mice slowed disease progression by 47 percent, says Brian Kaspar, MD, a principal investigator in the Center for Gene Therapy at Nationwide Children’s and senior author of the new study.

"The field has identified different cell types in addition to motor neurons involved in this disease, so one of our approaches was to find out what weapons these cells might be using to kill motor neurons," Dr. Kaspar says. "And our findings suggest that the microglia utilize an NF-κB-mediated inflammatory response as one of its weapons."

Inhibiting the protein in astrocytes had no impact on disease progression, so the search for the weapons that cell type uses against motor neurons continues. These preliminary findings also don’t tell scientists how or why NF-κB turns the ordinarily protective microglia into neuron-killing molecules. But despite the mysteries that remain, the study moves scientists closer to finding a treatment for ALS.

The search for an ALS therapy has been focused in two directions: identifying the trigger that leads to disease onset and understanding the process that leads to disease progression. Changes in motor neurons are involved in disease onset, but disease progression seems to be dictated by changes to astrocytes, microglia and oligodendrocytes. Some cases of ALS are hereditary but the vast majority of patients have no family ties to the disease. The complexity of the disease and the lack of a clear familiar tie make screening before disease onset nearly impossible, highlighting the importance of slowing the disease, Dr. Kaspar says.

"Focusing on stopping the changes that occur in astrocytes and microglia has clinical relevance because most people don’t know they’re getting ALS, says Dr. Kaspar, who also is an associate professor of pediatrics and neurosciences at The Ohio State University College of Medicine. "We have identified a pathway in microglia that may be targeted to ultimately slow disease progression in ALS and are exploring potential therapeutic strategies and may have broader implications for diseases such as Alzheimer’s and Parkinson’s Disease amongst others."

Story Source:

The above story is based on materials provided by Nationwide Children’s Hospital.Note: Materials may be edited for content and length.

Journal Reference:

  1. Ashley E. Frakes, Laura Ferraiuolo, Amanda M. Haidet-Phillips, Leah Schmelzer, Lyndsey Braun, Carlos J. Miranda, Katherine J. Ladner, Adam K. Bevan, Kevin D. Foust, Jonathan P. Godbout, Phillip G. Popovich, Denis C. Guttridge, Brian K. Kaspar. Microglia Induce Motor Neuron Death via the Classical NF-κB Pathway in Amyotrophic Lateral SclerosisNeuron, 2014; 81 (5): 1009 DOI:10.1016/j.neuron.2014.01.013
Posted 1 month ago

Another Great TED Talk …

Siddharthan Chandran: Can the damaged brain repair itself? 

After a traumatic brain injury, it sometimes happens that the brain can repair itself, building new brain cells to replace damaged ones. But the repair doesn’t happen quickly enough to allow recovery from degenerative conditions like motor neuron disease (also known as Lou Gehrig’s disease or ALS). Siddharthan Chandran walks through some new techniques using special stem cells that could allow the damaged brain to rebuild faster.

Siddharthan Chandran explores how to heal damage from degenerative disorders such as MS and motor neuron disease (ALS).

Posted 2 months ago

Superbowl and ALS …

Watching the ‪#‎SuperBowl‬ later today? Keep an eye out for this minute-long Microsoft commercial that will feature former New Orleans Saint Steve Gleason, who is living with ‪#‎ALS‬. …

Posted 3 months ago

Another “First” in Life Experiences …

I’ve slept on the floor, on the ground, in a tent, in a sleeping bag, on a couch and in a bean bag chair … but last night was my first time sleeping the whole night in a recliner connected to a BIPAP machine (BIPAP tutorial below).  Now I know why so many folks with ALS sleep in recliners and not beds.

It was the best, uninterrupted, nights sleep I’ve had in a few weeks - was not worrying about my compromised breathing — and woke up this morning without a headache (due to low blood oxygen) for the first time in a while … What a Deal!

Posted 3 months ago

Maybe we can make a difference in the ALS arena …

ALS - Veterans Support Foundation Inc.

We must never forget all that veterans have given, every day protecting the privileges, comforts and freedoms that WE enjoy.  Service men and women know they were fighting honorably for something larger than themselves — the same holds true for this fight versus ALS …

Posted 4 months ago

3 Years and Still Transitioning :) …

Well it has now been 3 full years since the neurologist at GW University told me I had 2-4 years to liive.  

I am thankful to be a slow progressor and for the many wonderful things I have had the good fortune to experience in these past 3 years.

Wanted to share the history of my ALS journey so far …




Listened to Carrie Underwood sing this the other day — from The Sound of Music — I think this what I do:

When the dog bites, when the bee stings
When I’m feeling sad
I simply remember my favorite things
And then I don’t feel so bad

Posted 4 months ago

More progress in the possible treatment of ALS …

But how long will it take for the US to “adopt” this area of possibilities and begin human testing?

I’d raise my hand and volunteer … the potential side effects couldn’t be much worse than what’s already happening to me.


A major step towards the cure of sporadic ALS

Experimental gene therapy for a sporadic ALS mouse model

Amyotrophic lateral sclerosis (ALS) develops mainly in the middle-aged and elderly and is characterized by progressive muscular weakness and muscular atrophy. There is no known cure for this incurable neurological disease, which leads to death due to paralysis of the respiratory muscles within a few years of onset. The research group of Project Professor Shin Kwak (Visiting Researcher, Clinical Biotechnology Laboratory, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, the University of Tokyo; Project Professor, Clinical Research Center for Medicine, International University of Health and Welfare) had discovered in earlier research that the enzyme ADAR2 was involved in neuron cell death in non-familial ALS, which accounts for the great majority of cases of the disease.

© teamkwak, A single intravenous injection of AAV9 vector successfully delivered the human ADAR2 (RNA editing enzyme) gene to motor neurons of AR2 mice, in which the ADAR2 gene was ablated selectively in the motor neurons, therefore comprising a mechanistic mouse model of sporadic ALS. The resulting expression of ADAR2 effectively rescued progressive motor dysfunction and death of motor neurons in the AR2 mice.

In this study, Project Professor Kwak and Project Researcher Takenari Yamashita (Clinical Biotechnology Laboratory, Center for Disease Biology and Integrative Medicine, Graduate School of Medicine, the University of Tokyo), in collaboration with Special Professor Shinichi Muramatsu’s research group (Jichi Medical University), developed an adeno-associated virus serotype 9 (AAV9) vector that would enable gene delivery only to the neurons of mouse brain and spinal cord. When this vector was administered by intravenous injection into the sporadic ALS model mice (AR2), the researchers succeeded for the first time in stopping the degeneration and loss of motor neurons and the progression of symptoms of the disease.

Further, even when administered after the emergence of symptoms, expression of the ADAR2 gene in motor neurons stopped the process leading to cell death and symptoms due to cell death were prevented without any apparent side-effects. It is conventionally thought that it is difficult to introduce genetic material into the brain and spinal cord by intravenous injection, but one intravenous injection alone was sufficient to bring about long-lasting expression of an effective quantity of the ADAR2 gene through the use of the AAV9 vector to trigger gene expression only in neurons.

While this result was achieved with a model mouse, it is thought that a similar molecular mechanism underlies sporadic ALS in human patients, and as human ADAR2 gene had a therapeutic effect in the model mouse, it is anticipated that a similar form of gene therapy will be effective in treating human ALS as well. Further, the AAV9 vector is known to be safe, and after confirming the safety of the improved AAV9 vector and determining optimal dosage, it is hoped that this research will open a new route to the treatment of ALS. Currently gene therapy has a strong image as a replacement therapy for rare genetic disorders, but this research is unique in that it shows that gene therapy is possible even in sporadic cases if the molecular pathology of the disease is understood.

This research was published in EMBO Molecular Medicine (24 September 2013 online edition). The present study was conducted with the support of the Japan Science and Technology Agency Strategic Basic Research Programs (CREST) and the Ministry of Health, Labour and Welfare Illness-related Disabilities Measures Research Program.


Takenari Yamashita, Hui Lin Chai, Sayaka Teramoto, Shoji Tsuji, Kuniko Shimazaki, Shin-ichi Muramatsu and Shin Kwak,
“Rescue of amyotrophic lateral sclerosis phenotype in a mouse model by intravenous AAV9-ADAR2delivery to motor neurons,”
EMBO Molecular Medicine Online Edition: 2013/9/24 (Japan time), doi: 10.1002/emmm.201302935.

Posted 5 months ago

A MILE IN ALS SHOES … A dose of reality

Saw this today and wanted to share it with others …


People ask me often what it’s like to live with ALS.   It’s a brave question because the answers are not very pleasant.   But it’s also such a worthy question because understanding how this disease impacts those who suffer from it creates empathy which is so valuable; it carries us into another person’s world and allows us to understand what they’re feeling and how they’re hurting.  As I watch my strong husband struggle with things that used to be easy and automatic, I sometimes wish that everyone could see life from his perspective.

Empathy isn’t the same as sympathy.  Sympathy means we feel sorry for people, empathy means we work to understand and identify with their pain.  Empathy isn’t always easy to squeeze into our busy and difficult lives, but it’s worth it.  It makes us more human in all the ways that matter and – in the search for a cure for ALS – empathy is our most effective motivator.

If you would like to experience just a tiny corner of an ALS life, I have a list of Empathetic Experiences for you.  These are things you can do to walk for just a mile in ALS shoes.  If you try one, take a little time at the end to consider that people actually living with the disease have a million miles more to go.

  1.  Pick up a 10-pound weight.  Now imagine it’s your fork and move it from your plate to your mouth repeatedly without shaking.
  2. Sit in a chair for just 15 minutes moving nothing but your eyes.  Nothing.  No speaking, no scratching your nose, no shifting your weight, no changing the channel on the television, no computer work.  Only your eyes.   As you sit, imagine: this is your life.  Your only life.
  3. Borrow a wheelchair or power scooter and try to maneuver quickly through the aisles at Walmart, without speaking.  Note the way people react to you.
  4. Strap 25 pounds to your forearm.  Now, adjust your rearview mirror.
  5. Using none of your own muscles, have your spouse or child or friend get you dressed and brush your teeth.  Write down some of the feelings you have being cared for in this way.
  6. Before you eat your next meal, take a good, long look at the food.  Inhale deeply and appreciate the aroma.  Now, imagine never being able to taste that – or any other food – for the rest of your life.
  7.  Put two large marshmallows in your mouth and have a conversation with your friends.   How many times must you repeat yourself?  How does this make you feel?
  8. Go to bed and stay in one position for as long as you possibly can, moving nothing.
  9. Strap weights to your ankles and climb a flight of stairs, taking two at a time.  That’s the kind of strength it takes for someone with ALS to tackle the stairs on a good day.
  10. Install a text-to-speech app on your phone or iPad and use it exclusively to communicate for one day.

And to my friends living with ALS:  please give us more ideas and help us move into your world for a bit.  We want to help make your lives rich and full and I’m not sure we can do that without at least a basic understanding of what you are facing. I think I speak for many when I say:  you are superheroes and we are in awe.

With unending hope for a million-mile cure,


Posted 6 months ago

10/12 - 10/13/2013 … A Weekend to Remember Always (A Birthday and a Wedding)

The weekend in Charlottesville, VA (yes … home of the Wahoos) started on 10/12 with Harper Kate’s Birthday - she’s 2 years old already!





To top off the day of 10/12 — a great wedding rehearsal dinner hosted by the Raedy Family …




The CRUSTIES were amazing …


Then the big day 10/13 — the marriage of our daughter Sarah Elizabeth Murphy to Brendan Daniel Raedy …


If someone had told me in December 2010 that I’d be walking my “baby” daughter Sarah down the aisle and be able to dance with her at her wedding this past weekend (or even be around for her wedding) — I wouldn’t have believed it.

Sarah and I just before the ceremony …


Our son Tom escorting the Mother of the Bride and Harper Kate …


The Bride and Dad walk down the aisle at the Old Metropolitan Hall -


"I pronounce you husband and wife — you may kiss the bride" …


Back up the aisle - but now as husband and wife …


From left to right the bridal party:  Tom (our son), Mike, Jeff, Jeff, Matt, Brendan, Sarah, Holly, Sora, Jessica, Kristin (our daughter and Maid of Honor) and Hannah.


My speech and toast …


First dance as husband and wife …


Dad and Bride danced to “Somewhere over the Rainbow” - Israel “IZ” Kamakawiwoʻole -


Pastaccio wedding cake - delicious!


The finale at the end of the evening …



At the end of the evening Keri looks tremendous and I look like I’m about to pass out from exhaustion …


A Thank You FB Post from Sarah …


And they are already in the Dominican Republic on their honeymoon on Tuesday afternoon 10/15 … What a Deal …


***** Big photo credits to Carly Romeo (Two Spoons Photography) for her pictures that I used for ths blog post *****

Posted 6 months ago

Can’t Remember the Last Time I Received a Participation “CERTIFICATE” …


FDA Patient Representatve Class of 2013 

(I’m the guy in the back row middle)


Posted 7 months ago

Remembering my “little brother” Patrick on 9/11 …

Our loving memories of Patrick come to the fore once again on this bittersweet day … 

He’s been sending all of us his love every day for 12 years and I hope he knows we’ve been doing the same for him and miss him very much.

Posted 8 months ago

Two very recent ALS “Journey” stories …

One is about living with ALS and one is about leaving with ALS - I found them to be inspirational, encouraging and also a bit frightening for someone like myself with ALS that has not progressed quite this far yet.  These are really strong people who did their best or are doing their best when faced with the insurmountable/overwhelming challenges of ALS …

'My furry foil': How a goofy dog inspired author with ALS to write again

ALS, Lou Gehrig's Disease, Suz Porter, Wife of ALS, Death and ALS

Posted 8 months ago