When It's 'Almost ALS,'
Will the Disease Progress?

by Margaret Wahl

The hallmark of ALS is the degeneration of two kinds of motor neurons  —  upper, which are in the brain, and lower, which are in the anterior horn (front section) of the spinal cord and in the brainstem. These two sets of motor neurons work together to drive movement and locomotion, but have separate, important functions as well.

Sometimes people come to a neuromuscular disease clinic who have only upper motor neuron (UMN) or only lower motor neuron (LMN) involvement. There’s usually an important question on everyone’s mind: Is this disorder likely to progress to ALS, or not?

The answer, unfortunately, usually requires waiting a few years to find out.

Stop, Go Or Modify

LMNs provide “go” signals directly to muscles. When they’re lost, muscles become weak and eventually unable to contract effectively, although they may twitch (fasciculate) involuntarily.

UMNs are different. They don’t go directly to muscles; they go to the LMNs, and they refine muscle movement from the raw “go” signal of these spinal nerve cells into the highly specialized movements needed for walking, running, typing, talking and hundreds of other motor activities. Without UMN control, muscles become tight (spastic) as well as weak, and reflexes may be accentuated. Muscles generally don’t atrophy or fasciculate (twitch) if only UMN loss occurs.

After Five Years, ALS Diagnosis Unlikely If Only UMNs Involved

Michael Singer at the University of Texas Southwestern Medical Center in Dallas, and colleagues, reviewed in the March issue of Muscle & Nerve the likely outcomes for people with only UMN damage. Gil Wolfe, co-director of the MDA clinic at UT Southwestern, was also an author.

“For patients with exclusive upper motor neuron symptoms acquired in middle age or later, the two main diseases to consider are ALS and primary lateral sclerosis,” the review says. “ALS [with UMN and LMN symptoms] is more common, and is usually the ultimate diagnosis.” However, they refer to studies that suggest that if LMN symptoms haven’t appeared after three years (one study) or five years (another study), it’s likely they won’t occur.

A third study found that when people developed LMN loss after having only UMN deficits, 77 percent did so within four years of symptom onset.

Better Prognosis, Slower Progression

The prognosis in these UMN-only cases, which are referred to as “primary lateral sclerosis” (PLS), is better than it is for ALS, and the progression of the disease is generally slow.

Drugs that combat spasticity, such as baclofen (Lioresal), are often prescribed, with a variety of supportive care measures.

“As difficult as it is to wait, the benefit of PLS as the diagnosis is undeniable,” Singer says. “Studies of PLS patients show them surviving nearly eight years or longer after diagnosis. In cases where deaths were discussed in medical journals, survival ranged from one to 15 years, and notably, none of the deaths were directly attributable to PLS.”

Wolfe concurs. “Compared to ALS, patients with PLS display more muscle stiffness, but they have less weakness and less respiratory compromise, and their prognosis as a result is much more favorable. The dilemma is separating PLS from ALS early on in the disease course so that we can provide some degree of reassurance to patients.

“This can be challenging, but if several years pass without clinical evidence of LMN involvement, one can be reasonably confident in making the diagnosis of PLS. Even having a UMN-predominant presentation of ALS casts a more favorable light on the situation.”

With LMN Disease, Respiratory Muscle Weakness Remains a Threat

Although not part of this recent review, people can also have only LMN symptoms that don’t progress to full-blown ALS. This condition, sometimes called “progressive muscular atrophy” (PMA), also usually carries a better prognosis than ALS, although weakness of respiratory muscles can be life-threatening.

“PMA is ... usually described as a disease characterized by slow progression and long duration,” with survival from onset ranging from three and a half years to 34 years (average 13 years), wrote Paul Ince of Sheffield (UK) University and colleagues in 2003 in the journal Neurology. The authors note, however, that much of the literature on PMA predates modern molecular diagnostic techniques.

In reviewing the medical records of LMN-onset disease seen at the Motor Neurone Disease Clinic in Newcastle upon Tyne (UK) between 1985 and 1999, Ince’s group found that six progressed to ALS, and 12 didn’t.

Presence of Nogo-A May Be Key to ALS Prediction

Data published April 23 in Neurology by a French team suggest that the presence of a protein called nogo-A in a muscle biopsy sample may be a good predictor of the development of ALS in patients who have only LMN symptoms.

In this study, Pierre-Francois Pradat at the Hopital de la Pitie-Salpetriere in Paris studied 33 people who underwent muscle biopsies during their diagnostic workup. Doctors measured nogo-A levels in the biopsy samples and then observed the patients for a year.

The investigators found nogo-A in 17 patients and didn’t find it in 16.

Of the 17 whose muscles contained the protein, 15 developed ALS. Of the 16 in which nogo-A was absent from the biopsy samples, only one developed ALS.

“This study in LMN patients shows that the nogo-A test is able to identify ALS early in the course of the disease,” the authors write.

They note that, since muscle biopsies are invasive, this approach should be used only when other disease processes that might be causing the LMN symptoms have been ruled out.

Emotional, Cognitive Function Preserved in LMN-Only Study

In 2006, Laura Goldstein at King’s College in London, and colleagues, compared 12 people with PMA to 25 healthy people (control group) on measures of cognitive, behavioral and emotional function, and found no differences. The researchers admit their sample was small, but they say the rarity of this condition made that limitation necessary.

At the time of the psychological testing, the people in the PMA group had been experiencing symptoms for two to 11 years. The researchers rated their average level of disability on a standardized scale as “moderate.”

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FIRST PERSON SINGULAR
Adjust, Adapt and Cope

by Ron Edwards

As I walked through the doors leading out of the auditorium, Jerry grabbed my arm and pulled me closer. It had just been announced to our church congregation that I had been diagnosed with ALS. Jerry whispered in his low gravelly voice, “You will learn to adjust, to adapt and to cope.”

Jerry had been injured several years previously in an ATV accident that left him with very little use of one arm, short-term memory problems and the loss of 80 percent of his lung function. But still he continued to work, and at what we perceived to be a tireless pace.

Jerry was absolutely correct. Those three words would come to define my life with Lou Gehrig’s disease. As the disease progressed, I adjusted and adapted my life and activities to cope with the restrictions that my new body gave me. I say my “new body” because I found that my body gave me things to confront on an almost daily basis. Twitches, spasms, cramps and a pervasive weakness began to be the order of the day. Each and every day.

Staying on the Job

A simple pencil and eraser helped Edwards keep typing and stay on the job longer.

My employer, a regional bank serving Oklahoma, Arkansas and Missouri, graciously gave me a week off following my return from the MDA/ALS center at Methodist Hospital in Houston, where I received my diagnosis. Although I was one of almost 4,500 bank associates, I was the first with ALS. The bank wanted me to determine whether I would take disability leave or try to work through the restrictions of the disease. I decided to work as long as I was able to fulfill my job as a regional branch president.

That decision brought about the first adaptations. We first addressed the issue of driving. That was solved by my wife, Linda, becoming my chauffeur. That necessitated some pretty substantial planning because I had branches in three different towns that required my presence. Linda would drive me there and take something she could do while waiting.

Our IT Department found a voice-recognition software called Dragon NaturallySpeaking by Nuance to adjust for my lack of ability to type. After hours of training the software, I found myself able to use the computer almost hands-free. A one-handed computer keyboard came too late for me to use it properly with my rapidly failing right hand. However, a large pencil with an add-on eraser was a low-tech solution to the problem.

For eight months, this system seemed to work. My associates did everything they could to make things easier, but the progress of my antagonist began to make it impossible for me to fulfill my job in the way that I wanted to fulfill it. I’ll always appreciate my employers for allowing me to leave on my terms.

Staying Ahead of ALS

Following the recommendations of the MDA/ALS centers in Houston and Oklahoma City, Linda and I began to adapt our home for my new life. Our sons and their families came to the house one weekend, and we began to modify our home. Doors came off of bathrooms and room entrances to allow for wheelchair access. Plans were made to adjust the master bath shower and master bedroom. Furniture was moved to provide more room around the bed. Space was cleared to provide for the new things in my life, the durable medical equipment.

My wife’s dad was an inventor/tinkerer, a trait he passed on to his younger daughter. Linda began to use her natural instinct to create gadgets that would help me. The first and most famous was the device that we named the Arm Thing [see “Where There’s a Will, There’s a Way,” March 2007]. This ingenious little device allows me to use my arms to feed myself and operate the telephone and my laptop computer. It eventually started our second career with the advent of our business, MTE Devices, which markets the device.

But Linda didn’t stop there. As my neck began to weaken, she worked with the available neck braces to make one that is a little more comfortable to wear. A 2-foot length of water supply tubing became a straw that made up for my inability to raise a cup to my mouth. This is a great assist when traveling or drinking while watching television.

I continue to be able to use Dragon NaturallySpeaking in my home office, but my youngest son and his family bought me an array microphone [no headset required] from Acoustic Magic. This allows me to speak to my computer completely hands-free, which is great when you don’t have any hands. The only drawback comes from sounds originating from other people. Sometimes my documents have some extraneous words, but I can cope with that.

What’s Next?

As this disease progresses, we find the adjustments and adaptations have become a little more critical. Weakness in my legs has brought about the need for a Hoyer lift. Issues with swallowing and choking have required the insertion of a feeding tube in my stomach. A respirator now sits noisily pumping air on my bed table at night.

What’s the next adjustment? What will the next adaptation encompass? Stanley Appel, director of the MDA/ALS center in Houston, would probably tell me that God only knows.

And of course, he’s right. God is the only one that knows. That next adaptation or adjustment to my life, to our lives, will show itself, and as with all the others, we will cope.

Augie’s Quest MDA National ALS Division Co-chairperson Augie Nieto continues his quest to raise funds for MDA’s ALS research program — most recently bringing in $230,000 from the Conor Jackson/Matt Leinart Celebrity Golf Classic for Augie’s Quest held in Phoenix in April. From left are: Bert Selva, CEO & president of Shea Homes, and event co-chairman; Matt Leinart, Arizona Cardinals quarterback; Augie Nieto; Conor Jackson, Arizona Diamondbacks first baseman; and Jeff Moorad, Arizona Diamondbacks general partner and event co-chairman. Shea Homes and DriveTime were presenting sponsors. Nieto also presided over the first meeting of the Board of Directors of the ALS Therapy Development Institute in Cambridge, Mass., in May. MDA, with funds generated by its Augie’s Quest initiative, and ALS TDI are undertaking the largest ALS drug search in history. Nieto is a national MDA vice president; he and his wife, Lynne, are co-chairpersons of MDA’s ALS Division.

by Alyssa Quintero

Michael Bougher of Benicia, Calif., received a diagnosis of ALS in July 1998, and is completely paralyzed from the neck down. A former project control systems designer and project manager for Telstar, Bougher was a self-proclaimed workaholic before ALS came into the picture. Now, assistive technology (AT) has enabled him to pursue a new passion – digital painting.

With some head movement, Bougher, 42, has created some 70 digital paintings — from scratch — since he began three years ago. Here, he shares his thoughts about AT, and how it’s improved his quality of life by helping to bring his paintings to life on the computer screen.

Q: How has AT improved your quality of life?

To execute mouse clicks, Bougher bulges his cheek "bullfrog style," using an old telephone headset and a light-touch switch attached with paper medical tape.

A: I’m grateful to have ALS in this age of technological development. Using my computer, I communicate with people all over the world, and I express myself through art, control my environment, travel, operate my entertainment center and listen to audio books. I’m more fulfilled now than at any other time in my life, due in large part to the boundaries that AT removes.

Q: What aids do you use to operate the computer?

A: I use a head pointer called the Tracker One (by Madentec) to interface with the computer. A
reflective dot is placed on your forehead or eyeglasses, and the device uses a beam of infrared light to track your head movement. I put mine on the brim of a ball cap to amplify my movement. The up, down, right and left motion of your head is then converted to cursor movements.

To execute mouse clicks, I built a switch system that I could operate by bulging my cheek “bullfrog style” using an old telephone headset and a light-touch switch that I attached with paper medical tape. Because this provided only one switch input, I also use MouseTool dwell software for right clicks.

For word processing and communication, I use the DynaVox Series 4 software, and through improvements to the software, I’m building a program that’s extremely efficient for producing e-mails or word documents. 

I also purchased, installed and configured PowerHome home automation software. To operate the entertainment center, I used a RedRat, which is a device that plugs into a USB port on your computer and produces infrared signals like a remote control.

I also used PowerHome to control fans, lights and other applicances.

Q: What is the learning curve for using the head pointer?

A: With a minimum amount of practice, it’s pretty easy to learn. It probably took several weeks to achieve efficiency, but it’s faster and more accurate than pushing the mouse around with limited arm movement like I did before. I still have reasonable range of motion in my neck, so I can circumnavigate the entire screen without much trouble, and I compensate for the disease’s progression by increasing the mouse speed in the software.

Q: What sparked your interest in digital painting?

Michael Bougher

A: I’ve always enjoyed looking at paintings, and about three years ago, I realized that with my assistive computer equipment, I had the ability to try digital painting. I think it’s central to the human experience to enjoy creating, and digital painting is essentially the only way I can still “create.”

Q: What is your processs for creating the digital paintings?

A: I primarily use Adobe Photoshop CS, and while some may assume I’m manipulating photographs, the program actually contains a comprehensive set of tools for creating original art. My paintings contain no photos or scans.

For photo-realism paintings, I typically remember a place we’ve visited in the past, and I use photos for reference. The images are created starting in the background, adding layers on layers to build depth into the piece. A typical painting has 100 to 200 layers and takes as many hours to complete.

An abstract painting starts with a strong spiritual emotion. To express a feeling, I use a math algorithm to generate shapes, and I play with the variables until I get a basic form that seems to convey my thoughts. I produce three or four complimentary shapes and layer them on top of each other. Then comes the fun part — adding color, effects and making the layers work together. It’s a liberating experience!

Q: What is your favorite painting?

Despite the photographic look, Bougher's creations, such as "The Path," are made from scratch.

A: “Global Peace” is my favorite because it best expresses some of my deepest emotions, and I experience calm stillness when I look at it.

Q: What is the story behind one of your latest paintings,“The Path”?

A: The image is centered on a bridge I crossed in a rainforest located in Costa Rica several years ago. As I was painting it, I realized that it also represents the spiritual journey that I’m traveling through with ALS.

Q: Thanks to advances in AT, what role does painting play in your life?

A: One of the most devastating aspects of a debilitating disease like ALS is the inevitable loss of self-esteem and the feeling that you can no longer contribute to society. Through MDA fund-raiser auctions, I’ve used my work to raise funds for ALS research and family services. Painting provides me a way to give back and retain the dignity that’s so often lost among people with ALS.

And, I’ve learned that even something as devastating as ALS can’t crush the human spirit unless you let it. The miracles of modern technology can open portals through which even a severely disabled person can connect with their fellow man.

Bougher’s painting “Grand Cayman Archway” is part of the MDA Art Collection. His painting “French Quarter Flavor” was part of the auction held this March at the Black & Blue Bash for Augie’s Quest in San Francisco. The auction raised $2.1 million for MDA’s ALS research program.

Following Sam

Sam and Jo-Ann Goldstein of St. Louis have learned a lot about living with ALS since he received his diagnosis in 2005. In this fourth installment of an intermittent series about one person’s ALS journey, Sam shares how his ALS caused a sudden respiratory crisis, leading to large and difficult changes in his and Jo-Ann’s lives.

This is my fourth article sharing my personal journey with ALS, and you haven’t heard from me since September 2006. WOW. Have things changed since then.

Back then, I was getting around well in my Permobil power chair and new van, going to breakfast with my children and grandchildren, meeting friends for lunch and visiting with family. But when MDA called recently and asked us to write another article, we warned that things had progressed rapidly and it might “scare” some people. We were told to just tell our story truthfully, because it can help others to know firsthand how people cope with the progression of the disease.

Getting a Trach

Sam and Jo-Ann (to Sam's right) pose with friends and family at a wedding in March, the first time Sam had been away from home since Thanksgiving.

I was looking forward to the 2006 holiday season when my world came crashing down the night before Thanksgiving. I had a cold and was having a little trouble breathing. Thinking my newly acquired vent for nighttime would help, I put it on and still couldn’t breathe well. That’s the last thing I remember for two weeks.

My wife Jo-Ann called 911. My lung capacity was down in the 30s and they rushed me to the hospital. In the emergency room they couldn’t get my levels above 72 (out of 100) and they asked Jo-Ann what my wishes were for life support. Luckily, we’d discussed the option of a tracheostomy and I’d decided that I definitely wanted one and had a very clear medical directive in place. So, with no hesitation, Jo-Ann was able to tell the doctors to go ahead and intubate me [put in a throat tube]. Then, for two weeks I was kept in a drug-induced coma so that I wouldn’t pull out the tube.

I had pneumonia in both lungs and MRSA [a form of staph infection]. This required being on a ventilator, staying in the ICU and everyone “gowning up” before visiting. They did a tracheostomy (right in my room), and I was able to talk within a few days. I think that all my years playing the French horn, which requires breath control, allowed me to readily adapt to speaking around the trach.

The total hospital stay was 26 days! The doctors and pulmonary staff wanted me to be weaned from the vent during the day, but I was too anxious each time they tried. My feeling was: It’s so much less effort to breathe with the vent’s help, so why should I go off of it?

Lots of Changes

Sam, Jo-Ann and family celebrated Passover together this spring.

The biggest change was in the use of my hands. Before Thanksgiving I could use my right hand to drive my chair, eat without help and scratch my nose. At the end of two weeks I could no longer move either arm and lost the use of both hands. That has been the biggest adjustment — having to ask someone to do the littlest things like taking a sip of water or rubbing my eyes. The simplest things like feeding myself, combing my hair or brushing my teeth can’t be done alone. Emotionally, this was very hard to deal with and we continue to see a counselor weekly, who is our biggest source of strength.

Coming home had its own new set of problems. I could no longer be left alone because of the vent. Jo-Ann had to learn how to suction me and change the trach. I couldn’t drive my chair. With all the previous changes that ALS brought, we had time to adapt to them one by one, such as going from a cane to a walker to a wheelchair, then power chair and Hoyer lift. Now I had come home with a vent, trach, suction machine, emergency oxygen and a lot of supplies.

Finding Help

I had hoped that my progression would be slow, but I have to face the reality that it is not. I think that’s one of the harshest things that all of us with ALS have to deal with — not knowing when changes will come, and the lack of any control over our progress.

We immediately hired a caregiver to help Jo-Ann and allow her to continue working part-time. After asking everyone we knew for names of good qualified assistants, we were very lucky to find someone who had experience with trachs and vents. I know that many people can’t afford to have extra help and I think it’s horrible that Medicare doesn’t cover these necessities. Maybe someday soon they will realize that it’s much cheaper and certainly preferable to care for someone at home, rather than in a hospital or nursing home.

Looking for Hope

Change is a constant and we deal with things as they arise. My chair now has a sip-and-puff control instead of a joystick. It’s difficult to leave the house, so my children, grandchildren, siblings and close friends visit often — a source of great joy to Jo-Ann and me. It’s now getting more difficult for me to speak, so we’ll start to investigate alternative communicative methods with the help of our great friends at the MDA/ALS center.

My emotions are all over the board as I come to grips with the trappings of ALS. But, I’m not giving up. I still feel that embryonic stem cells hold the promise and am heartened by the steps that researchers are making each day.

I apologize that this article may be somewhat depressing for some. You have to find your own silver lining to deal with this disease. Luckily, I have my family and friends and especially my beloved wife of almost 38 years to help me cope with the difficulties that are constantly arising.

As always, I welcome your comments at fhornsam@charter.net.