MDA TELETHON TO FEATURE ALS

Ed McMahon and Jerry Lewis are the anchor and star of the MDA Telethon

This year, viewers of the Jerry Lewis MDA Telethon (Sept. 2-3) will meet Steve Rigazio and his family — wife, Annette, and their two children — and hear the story about his fight with ALS. A video about the Rigazios of Las Vegas will be aired on the national broadcast, and across the country, dozens more men and women with ALS will be profiled on local Telethon segments in their communities.

A former semi-pro baseball player and avid ice hockey player, Rigazio first experienced weakness in his right arm while playing hockey in 1999. After two days of intensive testing at the Ronny & Linda FingerMDA/ALS Center at the Baylor College of Medicine in Houston, Rigazio received confirmation of the ALS diagnosis, just five days before his 45th birthday.

MDA cameras catch former Nevada Power Co. President Steve Rigazio in his Las Vegas office.

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PRACTICE PARAMETER SETS TREATMENT GUIDELINES

"Five years ago, very few ALS patients were using noninvasive ventilation, and only a small percentage were using PEGs [feeding tubes]," says Robert Miller, a neurologist who directs the Forbes Norris MDA/ALS Research Center at California Pacific Medical Center in San Francisco. "In the last five years, the numbers have changed dramatically."

Miller notes that it's often said there's only one treatment for ALS and that it doesn't work very well. The statement refers to the drug riluzole (Rilutek), the only drug on the market that specifically targets the disease itself.

Miller examines an ALS patient.

"If you look at the effect of PEGs on survival, it's greater than that of Rilutek," Miller says. "And if you look at the noninvasive ventilator, the effect is at least greater than the sum of PEG tubes and riluzole. These are three treatments that can extend life and improve the quality of life."

Miller attributes much of the change in ALS care to the ALS "practice parameter," a document developed in the late 1990s by the American Academy of Neurology that advises physicians who care for ALS patients, with loose recommendations in several key areas. The parameter makes its suggestions with various degrees of certainty, ranging from "standards" (highest level) to "guidelines" (mid-level) through "options" (lowest level). These recommendations, which will undergo revision as knowledge changes, were first published in the April 22, 1999, issue of the journal Neurology. As yet, none of the recommendations is designated a "standard."

Miller, who chaired the multidisciplinary task force that developed the parameter, is enthusiastic about the effort. "Whenever you start addressing a standard of care, the very fact that you're addressing it makes a change," he says. "In the two years prior to the publication of the parameter, all of us in the big centers were already beginning to practice differently. We were beginning to realize that there were a lot of things that needed to be done."

He continues, "More patients are aware that there are treatments available, because of publications and Web sites with lay versions of the practice parameter, support groups, and physicians who are more aware."

WHAT THE PARAMETER SAYS

The parameter published in Neurology suggests that physicians should at least consider the following guidelines and options in caring for ALS patients, keeping in mind the individual needs of patients and families.

Diagnosis

• Give the diagnosis to the patient and discuss its implications; respect the cultural and social background of the patient by asking whether he or she wishes to receive the information or prefers that it be communicated to a family member (guideline).
• Give the diagnosis in person and not by telephone (guideline).
• Provide printed materials about ALS and about support and advocacy organizations such as MDA (guideline), and a letter or audiotape summarizing what the physician has said (option).
• Avoid withholding the diagnosis, providing insufficient information, delivering information callously, or taking away or not providing hope (guideline).

• Offer medications to dry up saliva to the patient who is drooling because of difficulty swallowing saliva; suggestions are amitriptyline (Elavil), benztropine (Cogentin), glycopyrrolate (Robinul) and others (option).
• Offer medications to control mucus production, such as propranolol (Inderal) or metoprolol (Toprol) (option).
• Offer manually assisted coughing and mechanical insufflation-exsufflation (forced inhalation and exhalation) for clearing secretions, especially during acute infection (option).

• Offer the medications amitriptyline (Elavil) or fluvoxamine (Luvox) to control unwanted laughing and crying known as "pseudobulbar affect," which is thought to result from direct neurologic damage rather than a mood disorder (option).

• Offer a feeding tube (PEG tube, which goes directly into the stomach from outside the body) to patients with difficulty swallowing soon after the onset of symptoms (guideline).
• Offer tube placement when the patient's vital capacity (the amount of air that can be expelled from the lungs after a deep inhalation) is more than 50 percent of normal, since poor respiratory function is associated with complications related to tube placement (guideline).

• Be vigilant for symptoms (such as shortness of breath with exertion or when lying down, marked fatigue, frequent waking during the night, excessive daytime sleepiness, and morning headaches) that indicate insufficient breathing, using serial measures of pulmonary function and not relying on any single test to monitor this (guideline).
• Offer noninvasive ventilatory support (ventilation without a tracheostomy tube) as an initial therapy to relieve symptoms of chronic hypoventilation (inadequate breathing efforts) and to prolong survival (guideline).
• Offer invasive ventilation (with a tracheostomy tube) when longterm survival is the goal, while fully informing the patient and family of the burdens and benefits of this form of care (guideline).
• Respect the right of the person with ALS to refuse or withdraw any treatment, including mechanical ventilation (guideline).
• When withdrawing ventilation, use adequate morphine or morphinelike medications and anti-anxiety drugs to relieve shortness of breath and anxiety (guideline).

• Offer non-narcotic pain relievers, anti-inflammatory drugs, and drugs to lessen spasticity for initial treatment of pain in ALS (option).
• Offer opioids (morphinelike drugs) liberally, following the World Health Organization guidelines, when non-narcotic pain relievers fail (guideline).

• Offer opioids, alone or with supplemental oxygen, to treat shortness of breath at rest, despite the risk of respiratory impairment with higher doses (guideline).
• Consider chlorpromazine (Thorazine) and acupuncture as possible additional treatments (option).
• Consider referral to hospice care in the terminal phase of ALS (option).
• Initiate a discussion of advance directives (instructions from a patient to health care providers and family on what to do when he or she can no longer speak for himself or herself) well in advance of the terminal phase, and reevaluate the plan at least every six months (option).

So far, the only formal evaluation of how well ALS care is being delivered and received in North America is the ALS CARE (clinical assessment, research and education) database, a project funded by the pharmaceutical company Aventis, which makes Rilutek. (The grant is "unrestricted," meaning the company doesn't control the content or the research process.) In the Aug. 14 issue of Neurology, the results of a team effort (this group also chaired by Miller) provide the baseline data collected by questionnaires from more than 2,000 ALS patients, their caregivers and physicians, from 1996 to 1999, just prior to the parameter's publication.

The report card isn't great. For instance, only 30 percent of people with significant swallowing difficulties reported having a feeding tube, and only 9.2 percent of those with a forced vital capacity (air that can be forcefully expelled after a deep breath) of less than 40 percent of normal were using BiPAP support, a form of noninvasive ventilation.

Neurologist Yadollah Harati sees patients at the Ronny & Linda Finger MDA/ALS Center at Baylor College of Medicine in Houston and is part of the American Academy of Neurology's practice parameter task force and the ALS CARE study group.

Harati, like Miller, has seen a big change in ALS care and hopes adequate funding for data collection on care can continue. Noting that the collection of ALS care data now available for public examination began in 1996, Harati said, "There has been an evolution in the care of ALS patients over the past five or six years. It's very obvious that the care patients are getting now is different than it was five years ago, when we started."

Not only does he think physicians are more aware of and adherent to the practice parameter, but some have even gone beyond it. As an example, Harati cites the use of botulinum toxin to control saliva, a treatment that may be superior to some of the medications suggested in the parameter. Harati is trying an herbal medication to dry up saliva.

Harati says ALS patients are being given noninvasive ventilation, particularly the BiPAP type, as well as feeding tubes, earlier in the course of the disease. "Early BiPAP and early PEGs are two things that we know have changed in the past five or six years," he says, "and they make a lot of difference in survival."

He says neurologists are much better at detecting signs of respiratory distress than they were a few years ago and are more likely to refer patients to pulmonary specialists.

Depression, Harati believes, may not yet be getting the attention in ALS that it deserves. But an experimental medication is being studied to treat pseudobulbar affect (see The ALS Newsletter, vol. 6, no. 3).

Conditions surrounding death may have improved, Harati says. He finds that more people are dying comfortably at home with the help of hospice programs, at least in the Houston area.

Advance directives appear to have been formulated and followed widely even from 1996 to 1999. The CARE study group reports that directives were in place for 90 percent of the patients who died and were followed 97 percent of the time.

To read the ALS practice parameter, go to www.aan.com on the Internet, look for "practice parameters" and click on ALS.

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DOLE SUPPORTS HOMEBOUND ACT

The Homebound Clarification Act, H.R. 1490, which is endorsed by the Muscular Dystrophy Association, has also obtained the backing of former Sen. Robert Dole, R-Kan.

Dole has agreed to act as honorary chairman of the National Coalition to Amend the Medicare Homebound Restriction for Americans with Significant Chronic Illness (NCAHB).

Founded by David Jayne of Rex, Ga., an MDA volunteer who has ALS, the coalition has been instrumental in the re-introduction of legislation that would increase access to in-home health care for people covered by Medicare. Federal eligibility rules restrict the duration and frequency of absences from home.

"Current Medicare rules governing access to homebound care unnecessarily isolate people with disabilities by requiring that they stay within the confines of their homes to receive services and benefits," said a recent statement of support for the bill from the MDA National Task Force on Public Awareness.

As of press time, H.R. 1490 had 54 co-sponsors in the House. In the Senate, Sen. James Jeffords, I-Vt., has expressed interest in re-introducing the measure.

Supporters of the Homebound Clarification Act can reach their representatives in their district offices during the congressional work period until Sept. 4. To find out more about the bill, visit the coalition's site at www.amendhomeboundpolicy.homestead.com.

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FORMER DELIVERY DRIVER DEMONSTRATES SUPPORT, SOUTH DAKOTA-STYLE

At first glance, Ed Stutzman isn't a particularly impressive figure. He depends on a wheelchair to get around, and prefers to sleep in his lift chair at night ("so I can change the pressure points when I get a pain," he reports). With very limited use of his hands, he can feed himself, navigate his wheelchair with a joystick, and spend eight to 10 hours a day on his personal computer — his primary tool for communication, now that his speech has become unintelligible.

Ed Stutzman invited South Dakota Gov. William Janklow (right) to an MDA ALS support group meeting, with exciting results

But in spite of the effects of six years with ALS — or perhaps because of them — Stutzman is still capable of leaving a powerful and lasting impression. Just ask Republican Gov. William J. Janklow of South Dakota. Just one meeting with Stutzman and a few of his friends was all it took to convince Janklow to invest $2 million in assistive equipment for South Dakotans affected by ALS and other neuromuscular diseases.

"My wife, Val, was reading obituaries in our daily paper about this lady who had ALS praising Governor Bill for getting her a computer to communicate," Stutzman recalls. "Val sent a nice letter asking if he would get one for me. I don't think the glue was dry on the envelope before she got a call from him saying he was going to get one for me. Before long I had a brand new Gateway — which are made right here in South Dakota," Stutzman, 60, says proudly.

In her thank-you note, Mrs. Stutzman invited the governor to attend an MDA support group meeting for people with ALS. On an October night in 1999, the governor arrived to find a packed house.

Janklow says, "Frankly, I thought I was going to meet with three families who wanted to say thank you for stuff that I've done for them. What I walked into was a support group meeting from northwest Iowa, southwest Minnesota and all of South Dakota."

The crowd of about 50 people with ALS and their caregivers, family members and friends made the most of the opportunity, describing in great detail the challenges of daily life with ALS.

As it turns out, they were preaching to the choir. Dexter Gunderson, former speaker of the state House of Representatives and a friend of Janklow's, had recently lost his battle with ALS.

The governor recalled a conversation with Gunderson's widow, Marian. "She said, ÔI didn't want to let him go as he was getting sicker and sicker, but I couldn't care for him. I couldn't lift him from the bed to the wheelchair. I couldn't get him from the wheelchair to the bathtub. I couldn't get him bathed and in and out of the tub.'

"So as we talked, it became clear to me that for a device that you could buy for about $3,000 or $4,000 that doesn't wear out, we could keep a loved one at home and not let him go to a nursing home," the governor recalls.

During the MDA meeting, Janklow and participants figured out that "for about $1.5 million — one time — we could buy a huge amount of assistive technology to assist families affected by ALS."

Since then, Janklow has initiated a program with the Vocational Rehabilitation office of the South Dakota Department of Human Services, in which state-owned assistive technology devices are made available for South Dakotans with neuromuscular diseases and their families. The program is funded by tobacco settlement money — $1 million last year, and $1 million in 2001.

Under the Neuromuscular Program, South Dakotans affected by multiple sclerosis, muscular dystrophy or ALS can obtain assistive equipment that belongs to the state to help them through daily life. Items such as wheelchair ramps, lift chairs, wheelchairs and respiratory aids are furnished at no charge, with the goal of allowing users to remain in their homes with their families instead of requiring costlier nursing home care.

The Man Behind It All

Ed Stutzman's role in attracting the governor's interest in technology for people with neuromuscular diseases helped to earn him MDA's South Dakota Personal Achievement Award this year.

Stutzman was a transport driver for the Metz Baking Co. of Sioux Falls, S.D., for 25 years, delivering Old Home Bread. In his spare time, he enjoyed building and driving racecars.

"In February 1995, I drove one of the racecar transports to Florida Speed Weeks," Stutzman recalls. "We loaded the racecars and all the equipment in a good old South Dakota blizzard. That's the first time I noticed that after getting cold I would drag my right leg."

He thought the leg problem was caused by a bad back, but then his family noticed he was slurring his speech. "My family thought maybe I'd had a stroke," he says.

After several months of tests at the Sioux Valley Hospital/ University of South Dakota Medical Center in Sioux Falls, and at the world-renowned Mayo Clinic in Rochester, Minn., Stutzman received a diagnosis of ALS in August 1995. He was 54 years old, with two grown sons and three young granddaughters.

He was also told that the average life expectancy was two to five years.

"But knowing there is a God that made this body, I thought I would leave it up to him to get me through this," he says. "Thanks to my brother-in-law in Arizona, I got a call from a man who had ALS for over 15 years. He gave me a lot of good pointers and one was an upbeat attitude, which is the best medicine for this disease. I know I can't walk, talk or pick my nose, so I only think about all the things I can still do."

Creating a Network

Stutzman isn't just a member of the Sioux Falls MDA ALS support group. Taking a page from Lou Gehrig's book, Stutzman has never missed a meeting since he first joined in 1995, "because it's a number one group," Stutzman says proudly.

"It is a wonderful, supportive group of people," says Val Stutzman. "He always comes away feeling very blessed."

Group facilitator John Cole, writing to nominate Stutzman for the personal achievement award, calls the group "the most effective support group I've ever been part of." The retired Catholic deacon considers the group his "most fulfilling ministry."

With the help of the computer Gov. Janklow provided, Stutzman has become almost a one-man support group in his own right.

He e-mails daily grins and inspirational insights to a long list of people, and signs his e-mails "Thumbs-Up-Ed" (sometimes with the added admonition to "eat dessert first").

"In my address book I have over 200 e-mail addresses of friends, in-laws and out-laws," Stutzman says with a chuckle you can almost hear via e-mail. He can be reached at stutzbearcat2@home.com.

Today, Stutzman measures his life with ALS by percentile. "I've lived long enough with this disease to get in the top 20 percent," he writes proudly. "And my goal now is to get to the top 10 percent."

But what about the future?

"My number-one goal in life is to be ready for my maker," he says. "In the last 30 years I've eaten a lot of dirt from our speedways. I just know he'll have a gold surface on his speedways up there."

If he doesn't already, he certainly will soon after Stutzman arrives. Because Ed Stutzman is the kind of guy who knows how to get things done.

Just ask Gov. Janklow.

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EXPLAINING ALS TO CHILDREN

Looking for a way to make ALS more understandable and a little less scary to your kids and grandkids? An interactive Web site can help you do it.

Moe Nuro, an animated motor neuron, guides young children through the basics of ALS, including a simple explanation of why muscles stop working, and that ALS isn't contagious, and a reminder that people with ALS enjoy and need lots of hugs and kisses.

For older children, the site has extensive links to the Neuroscience for Kids site of the University of Washington in Seattle. The ALS For Kids site is located at www.march-of-faces.org/KIDS/moe1.html.

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ALS GENE HUNT INCREASES IN SPEED, SCOPE

In 1993, an MDA-funded team led by Robert Brown at Massachusetts General Hospital in Boston announc-ed they'd found a defective gene that causes familial (inherited) ALS. It seemed investigators would soon track down other ALS-linked genes, and swiftly gain insights into how the disease kills the muscle-controlling nerve cells called motor neurons.

Unfortunately, the genetic defects Brown and his team discovered — mutations in the SOD1 gene — remain the only known cause of ALS. The majority of ALS cases occur sporadically — with no obvious genetic cause and, in fact, no clear cause at all.

But the hunt for ALS genes hasn't waned. Instead, it's gaining speed and scope. These days, researchers aren't just looking for defective genes that cause ALS. Propelled by advances in genetic research, they're seeking out genes that influence the disease at different stages — from susceptibility to onset to progression. Such genes, researchers hope, could serve as targets for therapeutic intervention.

Navigating Gene Pathways

Researchers suspect that hundreds of genes might come into play during the disease process in ALS. Whether the trigger is defective SOD1 or some other factor, the result is likely a chain reaction of abnormal gene expression, with some genes getting inappropriately turned on (expressed) and others getting inappropriately turned off. For example, genes that would normally protect motor neurons from death might be shut down during the disease, causing faster progression.

Researchers plan to organize these genes into "pathways" that connect one gene to the next and, ultimately, to design drugs or other treatments that keep each pathway on the right track.

"We want to know what genes or gene pathways modify disease severity," says neurologist Terry Heiman-Patterson, who directs the MDA/ALS Center of Hope at MCP Hahnemann University in Philadelphia. "If we find a pathway involved in the disease, we might be able to treat the disease by tweaking that pathway. For example, if we identify a protective gene that gets turned off, we might be able to up-regulate it with a drug or replenish it by gene therapy."

Chipping Away at ALS Genes

A few years ago, putting together these gene pathways would have been a painstakingly slow task. Much of the human genome (the entire set of human genes) was still a black box, and laboratory techniques limited researchers to studying the expression of just one or a few genes at a time.

But two recent breakthroughs have taken gene analysis to a new level. Completion of the Human Genome Project (HGP), a public and private endeavor to decipher the human genome, has laid bare a total of about 30,000 genes that can be screened for their involvement in diseases, including ALS. And thanks to a mid-1990s invention called a gene chip, it's now possible to get a panoramic snapshot of gene expression covering up to 10,000 genes at once.

A gene chip, also called a gene microarray, is a postage stamp-sized grid dotted with thousands of gene fragments pulled from databases like the HGP. The gene fragments, each with a precise location on the grid, act like tiny hooks for capturing, sorting and identifying expressed genes derived from a tissue sample, such as a nerve or muscle biopsy (see illustration).

Fishing for Genes With the Gene Chip To use the gene chip as a snapshot of gene expression in ALS, researchers start with a tissue sample from a person or animal with the disease. In a series of chemical procedures, the sample is stripped down to yield a "soup" of active genes, and those genes are then tagged with a fluorescent dye. When the soup is poured over a gene chip, an active gene in the soup sticks to a matching gene fragment on the chip, creating a fluorescent spot. An inactive gene (not present in the soup) leaves a blank spot on the chip.

Compare-and-Contrast

Heiman-Patterson is using gene chips to compare gene expression patterns in different strains of mice with the SOD1 mutation. In doing so, she hopes to define gene pathways that come into play "downstream" from SOD1.

"We and others have found that different strains of SOD1 mice develop ALS with different severities," says Heiman-Patterson. "One strain gets sick sooner, and another strain gets sick later," she explains, because each strain has a unique genetic makeup that influences the course of the disease. "We're trying to find out which genes are making the difference," she says.

"We want to identify the gene pathways that protect against ALS, and ultimately enhance them," she says, adding that SOD1-linked ALS could involve the same gene pathways as sporadic ALS.

Eric Hoffman, a molecular biologist and MDA grantee at the Research Center for Genetic Medicine in Washington, is also using gene chips to sort out gene pathways in ALS. But instead of comparing strains of SOD1 mice, he's comparing gene expression in people affected by ALS and those with another motor neuron disease, spinal muscular atrophy. He's also examining mice with nerve and muscle injuries that mimic distinct stages of ALS and SMA.

Both Heiman-Patterson and Hoff-man have just started their gene chip studies, and they say that analyzing the large amounts of data generated by the chips will take some time.

Still, Hoffman says the comparison between ALS and SMA has already been informative. "Consistent with results from other researchers, we're finding some similar gene [pathways] in ALS and SMA," he says. (For more about the connection between ALS and SMA, see The ALS Newsletter, vol. 6, no. 2.)

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STEM CELL RESEARCH SHOWS CONTINUED PROMISE — AND SOME SURPRISES

Although the future of stem cell research remains uncertain, recent studies have fostered new insights — and higher hopes — regarding the cells' potential for treating ALS and other neurodegenerative diseases.

ALS researchers at Johns Hopkins University in Baltimore recently announced that they've used human stem cells to partly reverse the course of an ALS-like disease in mice. The group was led by Jeffrey Rothstein, who co-directs the MDA/ ALS Center at Hopkins, and John Gearhart, who was among the first scientists to isolate and grow human stem cells — immature cells in the body that can give rise to a variety of cell types.

A few years ago, Gearhart showed that stem cells could be pushed to develop into neurons (nerve cells) or glia, cells that support and nurture neurons. Soon after, he and Rothstein began investigating the cells as a possible "repair kit" for ALS, which is caused by the loss of motor neurons (muscle-controlling nerve cells) in the spinal cord.

Last year, the Hopkins group isolated mouse stem cells, coaxed them into becoming neural stem cells (cells destined to become neurons), and injected them into the spinal cords of mice paralyzed by the Sinbis virus. Many of the treated mice regained some ability to move their hind legs (see The ALS Newsletter, vol. 5, no. 6).

At a scientific meeting in Bar Harbor, Maine, in July, Gearhart reported that human stem cells, similar to those from the mice, also could restore movement to Sinbis-infected mice.

Other scientists are developing new ways to harvest neural stem cells, and they're finding them in some surprising places.

Neurologist Fred Gage has shown that human neural stem cells persist even after death. In the May 3 issue of Nature, Gage and his colleagues at the Salk Institute in San Diego reported that they'd harvested cells from autopsied brains within two hours after death, and then stimulated the cells to produce new neurons in culture.

Meanwhile, former MDA grantee Helen Blau has confirmed preliminary findings that neural stem cells are present in bone marrow. Blau collected bone marrow cells from adult mice, and injected them into the tail veins of mice that had received lethal doses of radiation to destroy their own bone marrow. While many of the transplanted cells formed new bone marrow, some incorporated into the brain. Those cells took on neuron-like shapes, began making neuronal proteins and appeared to synchronize certain biochemical activities with the transplant recipient's own neurons. Blau and her group at Stanford University in Stanford, Calif., reported those results last December in Science.

And finally, Freda Miller and colleagues at McGill University in Montreal, Canada, have found that even skin appears to contain neural stem cells. In next month's issue of Nature Cell Biology, Miller and her team report that cells derived from mouse or human skin can give rise to neurons in culture.

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BEEP AT ME, BABE

ALS Can't Stop Her From Being "Just Your Typical Mom"

by Kathryn Hormby

When I was diagnosed with ALS in 1988 and learned my life expectancy was three to five years, my first thought was of my 16-month-old son, Thomas. My God, I thought, he won't even remember me.

Sophie, Tom and Kathie Hormby.

I was 39 years old. My husband, David, and I had a new house in Santa Fe, N.M., and a new baby. David was an engineer at the state highway department and I was a public defender. We juggled careers and parenthood, and I thought we were pretty good at it.

Then, ALS turned our lives upside down.

Fortunately, I have a very slow-progressing case of ALS. Shortly after diagnosis, my doctor said I had five good years, maybe 10.

If I had 10 good years left, why not 15? Or 20? If I didn't do anything stupid, Thomas would remember me and know how much I loved him. But I didn't want his only memory of me to be of a bitter, angry invalid. This and a severe case of denial motivated me to live as long as possible and to give my son a normal childhood.

GROUND RULES

We set a few ground rules. We wouldn't lie to Thomas. We answered his questions truthfully, but we tried to put a positive spin on it. Yes, Mom falls down because she is sick. No, she won't get better. Yes, she'll die from ALS, but no time soon.

When Thomas was 4, we moved to Nashville, Tenn. We found a first-floor apartment where the management installed ramps for me. We enrolled Thomas in an excellent preschool, and I went to work as a research clerk for the federal public defender. We joined a church. A typical family.

About this time, I got an electric scooter. Rather than let ALS confine me, I used the scooter to keep moving. With Thomas on my lap, we went to the library or park or the mall to see Santa, go to movies or shop. I did everything a mom does. Only the mode of transportation was a little different.

I must have been doing something right. One day in preschool circle time, Thomas said, "My mom's in a wheelchair, but it doesn't matter." Of course, it mattered to me, but not to him.

As the years went by, we measured time by my losses and the normal milestones of childhood. Tom started kindergarten ... I could no longer feed myself. Tom learned to read ... I couldn't speak well enough to continue reading to him. I got a feeding tube ... Tom learned to ride a bike.

When I couldn't transfer myself from bed to scooter or wheelchair, David had to get us all up in the morning, fix breakfast, get Tom to school and me to work, then go to work himself. Then he'd pick us up, fix dinner, feed me, get Tom a bath, read to him, then get us into bed. I was exhausted and I was exhausting David.

Finally, I had to admit that I couldn't work any more. It was the hardest thing I had ever done, but I had to retire. David found a part-time home health care worker to take over my care.

We bought a house and Tom started a new school. I was a stay-at-home mom and Tom took the bus to and from school. I was even a soccer mom for a couple of years. All seemed well.

But the health care help became full time, and we went through a series of what David called "Kathie wranglers." I could hardly speak and my conversations with Tom became a cacophony of short orders. The word "please" took up another syllable and I had just so many syllables left to me. So I eliminated it.

COPING

All wasn't well with Tom, either. He started acting up at school and with me. I think he was trying to push me away so it wouldn't hurt so much when he did lose me. I sought counseling for him.

At our first session with the counselor, I was shocked to hear my 7-year-old say he was the cause of my illness. He knew that I'd shown the first symptoms of ALS shortly after he was born. He took this information, added two plus two, and came up with five. He said the "stress" of childbirth caused me to get sick. The little guy had been carrying this guilt for years.

It took three sessions to convince him that no stress in the world could give me ALS. I also told him that if I had to choose between having him and having ALS, or not having him and remaining healthy, I would choose him every time. And I would.

In addition to fearing that he was about to lose his mother, enough of a load for any kid to carry, he was afraid that if I died, he would lose everything. His home, his dog, school, everything he loved would disappear if I died.

So I explained to him the concept of insurance. I assured him that if I died, the house would be paid for and he and his dad would stay there. I also told him we were saving money for his college education.

CHANGES

In December 1996, I did something stupid that nearly cost my life. I popped a Gummi Bear into my mouth and sucked it right into my lungs. In the ambulance on the way to the hospital, I remembered an old legal client who said, "If you're gonna be stupid, you gotta be tough."

In addition to having difficulty breathing, I was biting my tongue and couldn't open my mouth. The doctors decided to give me a muscle relaxant so I would let go of my tongue. Bad decision. The last thing I remember as I passed out was one of the doctors saying, "Defib." I'd heard that word enough on "E.R." to know this wasn't good.

I spent five days in that hospital and don't remember a thing about it. The day after they discharged me, I was back in another hospital, unable to breathe. Pneumonia. They intubated me and told David it didn't look good.

I spent two weeks in intensive care. The worst part was that Tom wasn't allowed to visit me. On Christmas morning, David marched in with Tom, saying to the nurses, "He is spending Christmas with his mother."

It was the best Christmas present I ever received. Tom, then 9, took a long look at the tube coming out of my mouth, then smiled and said, "It's Christmas, Mom!" David told me they'd decided not to celebrate Christmas until I got home.

After having a tracheostomy performed, I finally came home, and we celebrated Christmas in March.

The insurance company then dropped a bombshell. They wouldn't pay for home care for a patient with a trach. I remember David screaming into the phone at some hapless employee. All I could do was cry. Partly to mollify David and partly, I'm sure, because they were sure I wouldn't live much longer, the company agreed to provide eight hours a day home care on weekends.

It wasn't enough, so I was shipped to a nursing home.

COMMUNICATING

West Meade Place isn't a bad place, as nursing homes go. It's clean and most of the staff are caring, decent people.

It's only four miles from our home, and David and Tom visit me almost every day. They bring Sophie, our ditsy Australian shepherd. Tom puts a dog biscuit between my toes, and Sophie hops up to get it. Sometimes David and Tom eat dinner in my room and we watch "Seinfeld" reruns.

My family chipped in to buy me a laptop and Words+ hardware. I use EZ Keys software. David made switches which I hold in my fists. I can squeeze my fists just enough to tap out Morse code (I find that faster than scanning) which the computer translates into English.

I was so desperate to communicate that I learned Morse code in one afternoon. My left hand is dash. It makes a boop sound. The right hand is dot, with a beep sound. I boop and beep at a pretty good pace.

The computer opened my world. I can tell people what I want or whatever's on my mind. With my computer, I surf the net; I read; I've taken up creative writing; I take college classes on the Internet; I write family and friends around the country. I'm part of the world again.

When Tom started middle school, we put a desk in my room so he could do homework. Most days, he takes a city bus to the nursing home after school. He has about a dozen grandmothers here and they all look out for him.

His standard greeting is, "Beep at me, Babe." I nag him about homework and quiz him for tests. Just your normal mom stuff.

I'm convinced that if it weren't for Tom, I wouldn't be here. When I almost died after the infamous Gummi Bear, something deep inside told me to hang on for Tom. I may not be the best mother in the world, but I'm his mother and I will do anything it takes to be here for him. Every day, I wait to hear, "Beep at me, Babe."

Tom is 14 now. And if I die tomorrow, I hope he remembers a mother who loved him and tried to be here for him. Just your typical mom.

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'ANGELS' EASE THE WAY FOR WOMAN WITH ALS

Despite the demon within, Toni Diamond feels the presence of angels.

The 43-year-old woman from Southwick, Mass., has rapidly progressing ALS, and in less than a year since her diagnosis has lost all mobility but a little head and eye movement. But Diamond finds blessings in the responses of those who care for her, right down to the person who empties the trash in her hospital room.

"Throughout this whole ordeal, Toni keeps saying her angels are always finding her," says her husband, Warren Schiffer.

The two have been United Airlines flight attendants for more than 20 years (United is an MDA national sponsor) and for five years flew together on a regular route to Japan. They enjoyed the companionship of a large group of friends and extended family, so when Diamond was found to have ALS in September 2000, there was an immediate outpouring of support.

The couple decided to channel that energy into a fund-raiser they've named Wings of Hope, scheduled for Sept. 14 at Tavern on the Green in New York's Central Park. They anticipate that Wings of Hope will raise $150,000 for MDA's ALS research and treatment programs — an extraordinary amount for a first-time event.

The event's name is a testament to the hope Diamond has about finding an ALS cure, and to the "angels" she and her husband feel they meet every day.

Besides the many friends and family members working nonstop on the fund-raiser, Schiffer says there are lots of everyday angels. He cites the respiratory therapist and nurse who came on their own time to give Toni a manicure ... the massage therapist who refused payment for her work ... the friend who spontaneously gave Toni a treasured gold Jesus medallion ... the custodian who takes time every day to give Toni a big smile while cleaning her room at New England Sinai Hospital and Rehabilitation Center in Stoughton, Mass.

"All these people have crossed our path and been there when they were needed," Schiffer says.

For more information on the Wings of Hope fund-raiser, visit www.wingsoverwallstreet.org.

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VITAMIN E MIGHT HELP A LITTLE

Results of a recent clinical trial suggest that vitamin E may cause a slight delay in the progression of ALS — bittersweet news for people who've followed the hopeful treatment's long history.

In the trial, led by neurologist Claude Desnuelle at CHU de Nice Hospital in France, 289 people with ALS received either vitamin E (500 milligrams) or a placebo twice daily for one year. All trial participants were also taking riluzole (Rilutek).

Vitamin E had no effect on survival or on the loss of muscle function. But participants taking vitamin E were less likely to progress to severe ALS within the one-year study period.

Vitamin E is an antioxidant, a substance that helps clean up free radicals. It became a popular treatment for ALS in 1940, when baseball legend Lou Gehrig took large quantities of the vitamin, on the advice of physicians.

The use of vitamin E gained more support in the mid-1990s, when researchers found evidence that ALS might be caused by oxidative stress, a toxic buildup of free radicals. Shortly afterward, geneticist Mark Gurney, then an MDA grantee at Northwestern University in Chicago, found that vitamin E could slow disease onset and progression in mice with ALS.

Since then, many physicians and patients have hoped that vitamin E might protect against human ALS by reducing oxidative stress. In the French trial, analyses of chemicals in the blood suggested that participants taking vitamin E did indeed experience lower levels of oxidative stress.

The trial results were published in the March issue of ALS and Other Motor Neuron Disorders.

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VIRGINIA WOMAN WRITES HAPPY ENDING

Sally Roraback never planned to write a children's book. She had intended to tell her five children's children the story her own grandmother, Loretta Coley, had created and told her many times.

But after losing her voice and most movement to ALS, Roraback decided to preserve in print some memories of her rural youth and childhood, among them her grandmother's charming story of a rabbit family.

Sally Roraback.

She wrote the book by typing with a stick attached to a cap on her head.

The resulting 40-page saga, "A Rabbit Family Tale," glows with warmth. It tells about a family of rabbits that's forced to move from a cozy home but ends up gaining larger quarters and a close-knit community.

The upbeat booklet features illustrations by Roraback's niece, Vesper White, which may remind the reader of those by Beatrix Potter of Peter Rabbit fame. But the book's kindly tone and happy ending are closer to those of A.A. Milne, author of the "Winnie-the-Pooh" series.

To finish and publish "A Rabbit Family Tale," Roraback relied upon her husband, Geoff Walsh, who edited the book, colored the cover illustrations and arranged for publication with Pocahontas Press of Blacksburg, Va., which donated its services.

Having lived in Blacksburg (a town of 35,000 near the Blue Ridge and Allegheny mountains) for a number of years, Roraback, 52, is deeply involved in the life of her community and still helps plan special events. Before the onset of ALS nearly four years ago, she owned and operated Capers Catering, which she recently sold. Roraback is known for her caring outreach to others and for nurturing community members with her healthful recipes.

It seems fitting that she's now the recipient of similar benevolence in the form of meals delivered twice a week to her home by a group of friends.

"This has helped busy family members, and it usually also means that I get to visit with the person who is bringing food," says Roraback, in an e-mail interview facilitated by her husband. "I have friends who visit me regularly and I am thankful for all their support."

Asked whether, after all she's been through, she still believes in happy endings, Roraback answers philosophically: "Endings are beginnings in disguise. I hope they are always happy."

Roraback requires 24-hour care, and "A Rabbit Family Tale" was written in part with the hope that it would generate income to assist with the costs of her support. She's decided to offer 10 percent of the book's $10 purchase price to MDA for ALS research.

To order the book, write Sally Roraback, 3320 Mt. Zion Road, Blacksburg, VA 24060; or sallyroraback@ webtv.net. Visit personal.picusnet.com/bburglck/rabbit-tale.htm or contact Pocahontas Press, P.O. Box F, Blacksburg, VA 24063-1020, (800) 446-0467.

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'LEARNING TO FALL' TO BE REPUBLISHED

Bantam Dell Publishing Group is slated to issue in January Learning to Fall: The Blessings of an Imperfect Life by Philip E. Simmons. Peter Pauper Press will also release a guided journal based on excerpts from the book.

Learning to Fall is a collection of essays by Simmons, who was found to have ALS at age 35. Filled with witty and inspirational writing, Simmons' book dwells on how the disease has spurred his quest to live a full life.

The book was reviewed in The ALS Newsletter, vol. 6, no. 1. For more information, visit www.learningtofall.com.

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MDA DESIGNATES ALS CENTER IN ALBUQUERQUE

MDA recently announced the designation of its 25th ALS research and clinical center, located at the University of New Mexico in Albuquerque.

The MDA/ALS center, housed in the University Health Sciences Center, is under the direction of Paul H. Gordon, who's also director of MDA's neuromuscular disease clinic at the health sciences center.

The clinic's multidisciplinary team approach includes care from a physician, nurse, dietician, respiratory therapist, social worker, clinic coordinator, and physical and occupational therapists. In addition, the center conducts ongoing ALS research.

To contact the MDA/ALS Center, call (505) 272-3342, or write: MDA/ ALS Center at the University of New Mexico Health Science Center, 915 Camino de Salud, NE, Albuquerque, NM 87131.

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