SSDI RECIPIENTS WITH ALS NO LONGER HAVE WAIT FOR MEDICARE

A change in federal law effective this summer should provide quicker access to essential medical equipment and services for people with ALS who receive Social Security Disability Insurance income. Starting July 1, people with ALS who get SSDI also will be eligible to obtain Medicare benefits when they begin receiving SSDI checks.

Under the current law, those who qualify for SSDI must wait two years before being enrolled in Medicare. The new law, passed by Congress in December, exempts people with ALS from the wait because of the rapid decline in health most experience after diagnosis. The disease's quick progression creates a need for extensive medical care and equipment before the two-year waiting period is up.

As of July 1, everyone with ALS who receives SSDI will be eligible for Medicare, including those now in the two-year interim. Medicare cards will be mailed later in July.

"Beneficiaries whose date of eligibility for Medicare is Aug. 1, 2001, or later under the 24-month rule will automatically be eligible for Medicare effective July 1, 2001. It should be seamless," said a spokesperson for the Health Care Financing Administration (HCFA), which administers Medicare. "When you are disabled with ALS, you will become eligible for Medicare."

She added, "The Social Security Administration will notify each beneficiary of their date of eligibility for Medicare, and the Health Care Financing Administration will issue a Medicare card and the handbook 'Medicare and You 2001.'"

People who apply for SSDI still have a wait of about five or six months for eligibility. For further information call the Social Security Administration at (800) 772-1213 or visit the Web site, www.medicare.gov.

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WHEN MOUTH AND THROAT MUSCLES WEAKEN
Talking With Jeff Edmiaston, Speech-Language Pathologist

Jeff Edmiaston (right) helps Keith Vinyard, who has ALS, learn to use a speaking computer

As a speech-language pathologist at Barnes-Jewish Hospital in St. Louis, Jeff Edmiaston specializes in helping people with ALS who have speech or swallowing difficulties. Edmiaston is a consultant to the MDA/ALS Center at Washington University School of Medicine.

Q   What does a speech therapist do that can help people with ALS?

A   Speech therapists — or speech-language pathologists, as they're usually called nowadays — specialize in helping people with speech, language, cognitive and swallowing problems. People with ALS generally have deficits in speech and swallowing sooner or later.

Q   How does ALS affect speech?

A   Speech is affected mostly because of weakness in the muscles of articulation — the tongue, the palate and the lips — and because of lack of breath support for speech. It's the tongue, which is composed of multiple muscles, that's primarily responsible for forming the sounds that we make into words. So, even if you can make a sound, it becomes very difficult to form it into words that can be understood, because the tongue is no longer moving as effectively as it once did.

Also, in ALS, the soft palate [back part of the roof of the mouth] doesn't elevate as it used to, closing off the nasal passage and separating the mouth from the nose. In ALS, when the palate doesn't elevate, almost all sound will go up in the nasal cavity and be resonated there. This is called hypernasality and can have a dramatic effect on your speech.

The "energy" for speech and for sound is breath support. When you breathe in and prepare to speak, the vocal cords come together and you build up pressure below them. When you begin to speak, they come apart, allowing the air to rush between them and causing them to vibrate quickly, which generates sound.

Mirrors can help clients perfect lip and tongue movements

In ALS, as the disease progresses, you usually are unable to get good, deep breaths, so you have reduced breath support for speech. Without adequate breath support, you're unable to talk very loudly or produce long sentences.

Q   How does ALS affect swallowing?

A   Many of the muscles involved in speech are also involved in swallowing, and they weaken in the same manner. As ALS progresses, you can have problems with things getting "caught in the throat," or with food or liquid going down the trachea into the lungs instead of down the esophagus into the stomach. Sometimes it can take so long to eat a meal (an hour and a half or so) that people get tired and don't eat or drink enough to support their nutritional and fluid needs.

Q   What can be done about speech problems in ALS while fairly normal speech is still possible?

A   Early on, we can educate and prepare a person for the changes that will take place in speech and swallowing functions as the disease progresses. Another thing that can be done, if the person can get started early, is voice banking, which means taping some messages so that you can use them later if you lose the ability to speak. There are lots of devices that enable you to do this, but the key is doing this early enough.

Q   What about later on?

A   When people still have some functional speech but it's no longer as clear as it used to be, we can teach strategies that will increase their ability to be understood.

For example, most of my patients complain that talking can be exhausting, so we teach them to budget their energy. If you're in an environment where your spouse or family members are familiar with your speech, it's not as important to use "good" speech. However, with an unfamiliar listener, that's when you really want to focus on good speech.

Pointing to the first letter of each spoken word on an alphabet board can increase the listener's understanding of speech.

If you're no longer able to talk as much on a single breath, instead of trying to say a sentence of 10 or 12 words, you can use three or four words on a breath and get a louder voice. As you make utterances shorter, the volume control will be easier. You can have more breath for fewer words.

Another solution is an alphabet board. If you put something into context, give the listener some clues, it's much easier to know what someone is saying. So, if you write down or type out the vowels a, e, i, o, u down the left side of the board, and put the consonants out to the right in order, you've got an alphabet board that can help you do that. When you're talking, you touch the first letter of each word you're saying.

At some point during the progression of the disease, especially in those with bulbar ALS, the person's speech will reach a point where these suggestions will no longer be effective, and they'll need something that provides an alternative for speech. It's important that you get the device that's best suited to your particular needs. You're looking not just at today but at, say, four months down the road. That's where it gets kind of tricky. You don't want to limit the patient to something that will work today but not four months from now.

Devices for alternatives to speech range from $300 to $16,000. Some examples of these devices include the LINK by Assistive Technology, which sells for about $1,400, or the LightWRITER by Zygo, which sells for $4,000 to $4,400. Some of the most powerful devices out there are generally $7,000 to $8,000. Some of these are made by DynaVox [part of Sunrise Medical] and Prentke Romich.

A LINK speaking computer, with a headset to allow listening to a telephone conversation while typing responses, sold by Assistive Technology

The lower-cost devices allow you to type in a message and will then speak what's typed in. These work well for people with excellent control of their hands and arms. The more expensive devices allow people who have less control of their hands to communicate by selecting choices from the device through activating a switch.

Some popular devices with my patients are the DynaVox 3100 and DynaMyte 3100. These devices allow you to program specific messages into a dynamic screen setting, as well as to type messages on a keyboard. In addition, these devices can be accessed by a direct touch or by use of a specialized switch.

Q   What about the person on a ventilator with a tracheostomy tube? Does that mean loss of speaking ability?

A   No, not necessarily. The patient has to be able to tolerate deflation of a cuff, which is actually a little balloon that goes around the tracheostomy tube. This cuff deflation allows air to flow around the trach tube up through the vocal cords when you exhale instead of all the air being exhaled through the tubing on the ventilator. If you're able to tolerate cuff deflation, then you may be able to use a speaking valve to produce speech.

Q   What can be done to help with swallowing?

A   You work on what the person is having problems with, such as getting food caught in the throat or choking on food or liquids or having nasal regurgitation — food coming out the nose.

Just as with speech, you educate people by showing them strategies they can use. Some strategies are tucking the chin when swallowing and swallowing twice instead of once. If people are having difficulty with solid foods, I recommend that they try pureeing their food. It's also important to keep the liquid intake up, or the risk of dehydration increases.

As swallowing deteriorates, it can take well over an hour to eat a meal with food frequently going down the wrong way. We work with a dietitian, who discusses with the patient the importance of adequate intake and the role that supplements, such as Ensure, can play. The supplements are a way to get a lot of calories in a relatively small amount of food.

A DynaMyte, sold by the DynaVox Division of Sunrise Medical

Q   What about when swallowing is no longer safe?

A   Eventually, when the person is losing weight, at a certain point you consider a gastrostomy tube [feeding tube in the stomach]. Once the person receives a gastrostomy tube, we then teach them that eating can be fun again, not a chore.

Q   How do you find a speech-language pathologist?

A   The first step is usually to get a physician's referral with an order for speech therapy. Since ALS is not a common disorder, it's likely that a therapist based in a larger medical center will have more expertise than a speech pathologist in a smaller hospital.

A LightWRITER, sold by Zygo

Q   How do you pay for services and devices?

A   Most of our patients are on Medicare. In general, it's difficult — but not impossible — to get reimbursement for adult care in speech pathology, for either services or equipment. However, there are some recent changes that may make the reimbursement for speech services more readily available.

Some of the companies that make the augmentative communication devices have departments that work on funding, and they can do a lot of the fighting for you.

For More Information

• "Feeding Tubes Are Nothing to Fear, Says MDA Clinic Director,"
  The ALS Newsletter, vol. 4, no. 5, 1999
  
• "Hard to Swallow,"
  Quest (MDA's national magazine), vol. 6, no. 4, 1999
  
• "Sorting Out Speech Services,"
  Quest, vol. 8, no. 1, 2001
  
• "Speech Devices to Be Covered by Medicare,"
  The ALS Newsletter, vol. 5, no. 6, 2000
  
• American Speech-Language-Hearing Association
  (800) 638-8255
  actioncenter@asha.org
  www.asha.org
  
• Communication Independence for the Neurologically Impaired
  (212) 385-8045
  cini@cini.org
  www.cini.org

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BDNF FAILS TO CHANGE COURSE OF ALS
Drug Companies Will Abandon It

Two studies of the naturally occurring human protein BDNF (brain-derived neurotrophic factor) failed to change the course of ALS, the sponsoring companies have announced.

In 1997, a large-scale trial of subcutaneously administered BDNF conducted by Amgen Pharmaceuticals of Thousand Oaks, Calif., failed to show benefit in ALS.

Shortly thereafter, Amgen, in partnership with Regeneron Pharmaceuticals of Tarrytown, N.Y., went on to study a subgroup of people with ALS who were in the large trial and who, the researchers thought, might have shown some response to the protein.

At the same time, the Amgen-Regeneron partnership conducted a trial of BDNF administered into the cerebrospinal fluid (intrathecally).

On Jan. 25, the company announced that the second subcutaneous study of BDNF didn't show any evidence of efficacy. There was no difference between the BDNF group and the placebo group in length of life or need for continuous mechanical ventilation.

The intrathecal study also failed to show any efficacy for the drug, leading Regeneron to announce that the partners would discontinue all further clinical development of BDNF for ALS.

Jesse Cedarbaum, vice president for Clinical Affairs at Regeneron, said, "We know what a disappointment this news is to people with ALS, their families and caregivers, and the stalwart and caring physicians and other health care professionals who give their time and efforts, both in the conduct of clinical trials and in day-to-day patient care.

"We want to thank all the patients who have unselfishly participated in clinical trials over the years, and the physician-investigators and their staffs, who have worked so diligently with us in our unsuccessful quest to develop a treatment for ALS.

"My hope is that the experience gained in the process has in some small way improved the way patients are cared for, and has helped to sharpen the skills of those who will carry on the fight."

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AMERICANS WITH ALS TURN TO MDA FOR INFO, SERVICES

Across the country, people affected by ALS and their families turn to the Muscular Dystrophy Association for medical examinations, emotional support, advice on day-to-day issues and up-to-date research news. MDA's services program is the most comprehensive offered by any voluntary health agency in the country.

Those with ALS who are registered with MDA can receive diagnostic and follow-up examinations at MDA's nationwide network of 230 hospital-affiliated clinics as well as its 22 MDA/ALS clinical and research centers at major medical institutions across the country. MDA also offers support groups; assistance with purchase and repair of wheelchairs and leg braces; equipment loans; and information about participation in drug trials.

The ALS page on MDA's Web site, www.als-mda.org/disease/als.html, links all the material on the site related to ALS. Features include online chat rooms.

The following publications and videos are available at your local MDA office, from MDA National Headquarters at (800) 572-1717 or the MDA Web site.

ALS: Maintaining Mobility: A 149-page book written specifically for people with ALS to assist in prolonging muscle function and enhancing independence. Request Online, $6.

ALS: Maintaining Nutrition: A 130-page book covering swallowing, diet, alternative feeding methods and tube feeding. Request Online, $6.

The ALS Newsletter: A bimonthly publication providing news, with a focus on current ALS research, and profiles of people living with ALS. Mailed free to those registered with MDA who have ALS.

ALS Update: A 2-minute, 45-second review of ALS research progress. (Free download available).

Breath of Life and Breathe Easy: Two MDA videos about ventilation options for people with neuromuscular diseases.

Facts About Amyotrophic Lateral Sclerosis: A pamphlet describing the disease's symptoms, causes, treatments and current research. Request Online. Free.

Los Hechos Sobre la Esclerosis Lateral Amiotrofica: The Spanish translation of Facts About ALS. Request Online. Free.

Meals for Easy Swallowing: A 125-page book containing a collection of recipes for easy-to-swallow foods and beverages, as well as suggestions on food preparation and service. Request Online, $6.

Quest: MDA's bimonthly national newsmagazine, containing stories about issues of living with any of the neuromuscular diseases MDA covers, helpful products and research news. Mailed free to those registered with MDA; $14 yearly subscription for others.

When a Loved One Has ALS: A Caregiver's Guide: A comprehensive, 94-page, illustrated manual filled with practical advice for meeting the medical, emotional, financial and everyday challenges faced by primary caregivers for people with ALS, and including an extensive list of resources. The primary caregiver for anyone with a diagnosis of ALS who is registered with MDA can receive a copy of the guide free. For others, there's a charge of $10. Request Online.

With Strength and Courage: Understanding and Living With ALS: A 24-minute video geared for newly identified ALS patients, produced in 1996. It's available for viewing from local MDA offices.

MDA ALS Research and Clinical Centers

For a complete listing, please see: MDA ALS Research and Clinical Centers.

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WRITER SHOWS HOW TO LET GO AND LOVE IMPERFECTION

Philip Simmons

Let go when you want most to hang on and then you'll learn to live the fullest life.

This motto for living is a common theme that runs through 12 eloquent, artfully written essays that make up Learning to Fall: The Blessings of an Imperfect Life by Philip Simmons.

The author sums up his views best in the book's third essay, "In Praise of the Imperfect Life": "Perhaps my life circumstances have pushed me, more insistently than most, to consider how a flawed life can still be a full one, how broken dreams can bring us more fully awake."

But reading this collection of essays doesn't merely reward the reader with pithy slogans. Rather, Simmons takes readers on weighty journeys toward enlightenment that explore the complexities of life and all of its paradox, humor, profoundness and joy.

Simmons was 35 when he received a diagnosis of ALS in 1993, and was headed for continued success in his career as a writer and associate professor of English at an Illinois college. While his book does anything but lament his situation, we do glimpse how the disease forced him to quit his job, and we watch his gradual change from climbing mountains to using a wheelchair.

Instead of dwelling on the disease that's taken hold in his body, Simmons writes about insightful concepts like striving to attain "presentness" by treasuring and living in the present moment, and attaining the "wildness" or freedom of animals.

Many of Simmons' essays are peppered with his love and appreciation of nature, and woven throughout are the words of great writers, poets and philosophers.

For example, T.S. Eliot wrote that venturing out and exploring may lead us back to where we start, and we then see the world with a fresh outlook. Simmons expands on that idea:

"And so I have returned to become a seeker of the second kind, a seeker of the dark way. I've grown suspicious of perfection, seeking not a perfect life but a full one. We have all had our magic moments, when we enter that forest clearing where dragonflies dance and sunlight descends as a kind of grace. But we know such bright moments only because of the darkness that surrounds them. The clearing needs the forest, and I've learned to be thankful for its shadows."

Alongside such deep thoughts are delightful mediations on ants, old houses, mud, breeding toads, the quirkiness of New Englanders, black flies, visiting the local dump, and watching the food chain at work in a bog near his New Hampshire cabin.

Learning to Fall is packed with clear and witty writing. It's intensely thought-provoking and, at the same time, entertaining and inspirational. The book is a solid departure from other works that explore the often dreary details of ALS, and provides a new lens through which to look at the significance of living.

Learning to Fall: The Blessings of an Imperfect Life, published by Homefarm Books, 155 pages, is available through bookstores or by calling Xlibris Corp. at (888) 7XLIBRIS or www.Xlibris.com. The price is $25 for hard cover, $16 for soft cover.

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CREATINE RISKS NOTED BY FRENCH AGENCY

On Jan. 23, the French equivalent of the U.S. Food and Drug Administration (Agence Francaise de Securite Sanitaire des Aliments, or AFSSA) issued an advisory about potential health risks, including a possible cancer risk, in taking creatine, a dietary supplement available over the counter in the United States and widely used as a purported muscle-building agent.

MDA-supported neuromuscular disease experts don't believe there's evidence of health risks with creatine for people taking it in clinical trials for neuromuscular diseases, including ALS, or under the supervision of their physicians. MDA is sponsoring four trials to test the ability of creatine to decrease disease symptoms in ALS or muscular dystrophy.

The statement released by the French doesn't address the use of creatine by people with neuromuscular disorders who are under medical supervision. It's aimed at healthy subjects attempting to increase their athletic performance. The AFSSA statement said that adverse events involving the digestive, muscular and cardiovascular systems of people taking high dosages of creatine have occurred. It also warned that impurities could exist in creatine that's marketed to consumers.

Diana Escolar, a physician who heads an MDA-funded study of creatine and glutamine in Duchenne muscular dystrophy at Children's National Medical Center in Washington, said her extensive research on creatine hasn't turned up any evidence of carcinogenesis.

Erik Henricson, the coordinator for Escolar's study, said that any human trial involves very careful tracking of research, regulatory agency reports and reactions of trial participants. That close surveillance, he said, makes it advisable to take untested drugs only in a clinical trial setting.

"If someone is taking a nutritional supplement," he said, "it should be under the direction of a physician, who can order lab tests and look at vital functions."

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SOLVING THE SOD1 PUZZLE:

New Ideas Might Lead to Better Treatment

Eight years ago, ALS researchers showed that genetic mutations affecting the SOD1 protein can cause familial ALS (FALS). Since then, they've viewed SOD1 as a possible key to understanding all types of ALS, including the much more common sporadic type (SALS), for which there's no known cause.

Unfortunately, SOD1 has turned out to be a mystery in itself. Researchers still haven't figured out exactly why mutant SOD1 is so detrimental.

One widely accepted theory holds that mutant SOD1 leaves cells vulnerable to oxidative stress (damage caused by oxygen-based free radicals), which has made antioxidants a popular treatment for ALS. But critics of that theory are investigating an alternative idea, and their work might lead to superior treatments.

SOD1 & Oxidative Stress

SOD1 — short for superoxide dismutase 1 — normally breaks down superoxide, a potent oxygen-containing free radical that's a byproduct of metabolism in most cells. So, it seems reasonable that mutant SOD1 might trigger oxidative stress by losing its ability to get rid of superoxide.

Also, motor neurons — the nerve cells destroyed by ALS — are thought to have a more active metabolism (and thus potentially more superoxide) than most cells, so they might be particularly vulnerable to a loss of SOD1 function.

But studies using mice have made it clear that mutant SOD1 doesn't just lose its normal function. When SOD1 is genetically deleted in mice, the mice don't develop ALS. Yet, when mutant SOD1 is added to the genetic makeup of mice, they do get ALS, even though they have their own normal SOD1.

These so-called SOD1-transgenic mice — which have become the gold standard for studying ALS — indicate that mutant SOD1 actually gains some toxic property, perhaps unrelated to its normal role in protecting cells from oxidative stress.

Nonetheless, in a study published last year in Science, researchers found evidence that mutant SOD1 might cause oxidative stress by sort of working backwards, producing rather than eliminating superoxide (see The ALS Newsletter, vol. 5, no. 1).

The Critics Speak Up

Don Cleveland

In a later issue of Science, several prominent ALS researchers criticized that evidence because it was based on experiments done in test tubes and isolated motor neurons — not in SOD1-transgenic mice.

One critic of the oxidative stress theory is MDA grantee Don Cleveland, a neuroscientist at the University of California in San Diego. "In SOD1-transgenic mice," Cleveland says, "the evidence for oxidative damage is impressively modest."

In fact, experiments by Cleveland and other researchers suggest that the toxic function of mutant SOD1 has nothing to do with the function of normal SOD1.

In one study published in Science, Cleveland showed that manipulating the balance between normal and mutant SOD1 had no effect on disease progression in the mice. Contrary to predictions of the oxidative stress theory, "You can't slow toxicity by having excess normal SOD1, and you can't accelerate toxicity by completely removing normal SOD1," Cleveland says.

In a more recent study, MDA grantee Jeffrey Rothstein at Johns Hopkins University in Baltimore created SOD1-transgenic mice that lack a protein called CCS, which is required for SOD1's oxidative activity. If mutant SOD1 caused oxidative stress, then absence of CCS should have ameliorated disease in the mice, but it didn't. (That study, not yet published, was presented at the Society for Neuroscience meeting in December.)

The main problem with the oxidative stress theory of ALS, says MDA grantee Heather Durham of McGill University in Montreal, Canada, is that "antioxidant therapies aren't very effective in models of the disease," including SOD1-transgenic mice.

Heather Durham

SOD1 Aggregates

A relatively new theory suggests that mutant SOD1 might be toxic because it tends to form abnormal clumps of protein called aggregates (see The ALS Newsletter, vol. 4, no. 6).

These aggregates are found in motor neurons of SOD1-transgenic mice, people with FALS and even some people with SALS. And they might create an overwhelming mess that ultimately kills the motor neurons, Cleveland says.

Even a perfectly healthy cell often has to clean up abnormal, misshapen proteins. Some members of the typical cell's cleanup crew — called chaperones — try to fix (or "fold") the abnormal proteins into correct shapes, while another group — called the proteasome — simply destroys proteins that are beyond repair.

SOD1 aggregates might overburden this cleanup crew, Cleveland says.

"SOD1 is a quite abundant protein, and it could be that the chaperones spend too much of their effort trying to refold the mutant SOD1 proteins, or that the proteasome has difficulty digesting them," he says.

Durham has done some studies that are consistent with that idea. For instance, she's shown that, when isolated motor neurons are forced to produce mutant SOD1, they become filled with aggregates and ultimately die.

The Power of Chaperones

Durham has also found that supplying those same motor neurons with extra chaperones prevents aggregate formation and protects them from death.

But she's skeptical about the idea that the aggregates cause SOD1's toxicity, and says they could just be harmless byproducts of the mutant protein. Likewise, "We don't know if chaperones protect motor neurons only by dealing with mutant SOD1, or if they protect the cells in a more general way," she says.

Still, she says her finding that chaperones can prevent mutant SOD1's toxic effects — whatever they might be — has significant implications for ALS treatment.

Durham is investigating drugs that might be used to stimulate chaperone production in people with ALS.

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The Association welcomes gifts for ALS research honoring significant occasions of achievement. These gifts may be made in tribute to special people or to mark such events as anniversaries, birthdays, weddings, graduations or retirements.

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