Defects in Cell 'Supply Line' Might Be Key, MDA Researchers Find

Kenneth Fischbeck at NINDS leads research that has identified a new clue to ALS.

Genetic defects affecting a supply line within motor neurons can cause a human disease similar to ALS, according to a new study by MDA-funded researchers.

The researchers probed the DNA of a large family from Alabama that has a hereditary motor neuron disease, and found mutations in the dynactin gene, which encodes a protein that helps move nutrients, growth factors and other cargo along axons — the threadlike appendages of nerve cells.

"There had been an idea that motor neuron disease could be associated with defective axonal transport and these findings are a good confirmation of that idea," said Kenneth Fischbeck, lead researcher and director of the Neurogenetics Branch at the National Institute of Neurological Disorders and Stroke (NINDS) in Bethesda, Md.

The family’s disease attacks only the lower motor neurons in the spinal cord, while ALS attacks the lower motor neurons and upper motor neurons in the brainstem. But despite that distinction, "each new gene implicated in motor neuron disease is another piece of the puzzle for how ALS happens," Fischbeck said.

Some 90 percent of ALS cases are sporadic (having no known cause), and the remaining 10 percent are hereditary. About one-quarter of hereditary ALS can be traced to mutations in the SOD1 gene, but even in these cases, how the disease kills motor neurons is unclear.

In a 1999 study, MDA-funded researchers found that mice with SOD1-related ALS show impaired axonal transport before they show signs of weakness. And last year, Erika Holzbaur of the University of Pennsylvania in Philadelphia found that when normal mice are genetically engineered to produce an inhibitor of dynactin, they develop symptoms of ALS.

Dynactin and associated proteins are specifically involved in retrograde transport — the transport of cargo from the axon terminal back to the main compartment of the nerve cell, or cell body. Motor neurons could be especially vulnerable to defects in retrograde transport because they use long axons to attach to muscle cells, and are dependent on growth factors that must enter the axon terminal and reach the cell body, Fischbeck said.

"If we can further understand this mechanism, hopefully it will lead to a better understanding of how to keep motor neurons alive [in ALS]," he explained.

Mutations in dynactin or related proteins might underlie some forms of hereditary ALS, while other disruptions of axonal transport — perhaps by toxins or infectious agents — might be capable of triggering sporadic ALS, he added.

Holzbaur, Imke Puls of NINDS, and Robert Brown Jr., director of the MDA/ALS Center at Massachusetts General Hospital in Boston, were other key authors on the study, published online March 10 by Nature Genetics.

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A New Life With ALS

Choosing To Live

by Steven and Jennifer Bishop

Are you living with ALS or dying from ALS?

We all have a choice at this defining time in our lives. Readers of this newsletter have been touched by ALS, and those of us who have the disease must make some of the most difficult decisions we’ll ever face.

We’ve chosen to live with ALS. Redefining ourselves has been an evolving and necessary process in making that commitment. We had to let go of our old life and our old dreams, and create a new life with new dreams.

A large part of our new life is the opportunity to serve as co-chairpersons of MDA’s ALS Division. We’ve been given an incredible honor — to represent an amazing group of people. We don’t take this responsibility lightly.

When we tell people we feel oddly blessed by this disease, that sometimes takes them by surprise. We have a daily reminder of how fleeting life is and a reminder to take advantage of every day we’re given, whether it’s with each other, Christopher, family or friends. No one is guaranteed tomorrow.

The value of our relationships has been greatly enhanced over the last two years. One of the most important lessons we’re trying to teach our son is that people are defined by their character inside and not by the outside shell our bodies represent while we are on earth.

Our new mission in life is threefold. First, to raise public awareness of what ALS is and what its effects are. We prefer to call it ALS instead of Lou Gehrig’s disease, because it’s our experience that when Lou’s name is mentioned the general public assumes they are knowledgeable about ALS, but in reality they simply recognize the name. Of course, we’re very thankful for all the attention that’s been brought to ALS through his name.

Our second purpose is to raise funds for research, which is why the first point is so critical. People are more likely to open their wallets for a cause they can truly relate to.

Our third, and most important, purpose is to provide help and hope, whenever possible, to all the people affected by this disease.

Hope comes in many forms. Right after Steven was diagnosed, we clung to every word that was mentioned about ALS in the media; each bit of coverage meant that more people were learning about ALS, and that gave us hope that a treatment or cure was being actively pursued.

In order to accomplish our new goals we’ve opened up our lives. We’ve found that, once we tell our story, people don’t treat us the same, for better or worse. But changes in our relationships are worth it for such an important cause. We believe that, the more people we meet, the more lives we can positively touch.

We’d like to leave you with this thought: Not one doctor or 100 doctors can tell any of us how long we’ll live. We mustn’t cling to the words we heard when we were first diagnosed, predicting our future. Though we’re uncertain how Steven’s ALS will progress, we’d rather have the quality of a few short years than the quantity of numerous years without the meaning and purpose we have.

We believe that this disease is largely about your mental attitude. If you let it get the best of you, the disease wins.

So fight! Remember it’s how you chose to live, not how you died, that is your legacy.

In this issue of The MDA/ALS Newsletter, we’re happy to introduce "A New Life With ALS," an ongoing column by Steven and Jennifer Bishop, co-chairpersons of the ALS Division of MDA. Steven, 37, received an ALS diagnosis in March 2001, and is retired from a sales career in the telecommunications industry.

The Bishops live in Arvada, Colo., and are parents of a 4-year-old son, Christopher. They host a chat for PALS (People With ALS) With Children, held from 12 p.m. to 1 p.m. Eastern time every other Wednesday. The next chats will be held April 2, 16 and 30.

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ALS Online

Clinical-Research Chats

Two upcoming MDA clinical-research online conferences will focus on issues of direct interest to those with ALS. All online conferences begin at 5:30 p.m. (Eastern). Watch for:

May 14 — ALS and Respiratory Issues, led by Edward Anthony Oppenheimer, a specialist for more than 30 years in pulmonary and critical care medicine.

June 11 — Quality of Life With Neuromuscular Disease, led by Greg Carter, director of MDA’s ALS center at the University of Washington in Seattle.

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Is It Really ALS?

by Margaret Wahl

Tim Miller

"How do you really know I have ALS? Couldn’t this be something else?"

It’s a question that neurologist Tim Miller, neuromuscular disease specialist at Arizona Health Sciences Center in Tucson, where he sees patients at the MDA/ALS Center, often hears.

"When patients come in very early, the chance for misdiagnosis is greater," Miller says. "But as patients progress, there’s a significantly reduced chance of misdiagnosis."

He cites an Irish study published in Archives of Neurology in January 2000 that found that 32 out of 437 people (7.3 percent) between 1993 and 1997 were mistakenly told they had ALS.

Still, doctors admit that most ALS (with the exception of those few cases that are clearly genetic) is still diagnosed largely by excluding other conditions. There’s no specific blood test, scan or any other procedure that definitively says: "This is ALS and nothing else."

Diagnostic Criteria

To help clarify things, in 1990, at a World Federation of Neurology meeting in El Escorial, Spain, experts decided on a set of criteria for ALS diagnosis. These guidelines, which were revised in 1998, are known as the El Escorial criteria, and remain the standard in the United States and Europe.

You can read these guidelines at www.wfnals.org/oldsite/, but they can be boiled down to a fairly simple statement: A definite diagnosis of ALS can be made when there are clear signs of damage to both the upper (brain) and the lower (brainstem and spinal cord) motor neurons; and when the neuron damage can’t be explained by the presence of any other abnormalities.

Those other abnormalities must be sought with extensive testing — physical examinations, blood tests, electrodiagnostic studies and sometimes muscle biopsies.

Both kinds of motor (muscle-influencing) neuron damage can be demonstrated by physical exam and by electrodiagnostic testing. The latter involves reading the electrical signals from muscle and nerve cells and looking for patterns indicating damage.

"A fair number of patients never reach the definite [El Escorial] criteria, at least on presentation," Miller says. But most people with ALS, he says, eventually do show signs of both upper and lower motor neuron degeneration.

Because signs aren’t always present immediately, El Escorial criteria say that patients should be re-examined about every six months when ALS is under consideration.

If, after extensive testing, only upper motor neuron damage is noted, the patient is said to have primary lateral sclerosis — and may or may not develop full-blown ALS.

If, after equally extensive testing and time, only lower motor neuron damage is found, the diagnosis is progressive muscular atrophy, which can but won’t necessarily eventually meet ALS criteria.

Other Neuromuscular Diseases

But what about those "other abnormalities" that doctors search for in the patient suspected of having ALS?

Miller assures his patients, "We would love to be able to tell you that you don’t have ALS." And that does happen sometimes.

Almost all patients suspected of having ALS undergo imaging studies, such as MRI or CAT scans, he says. "We’re looking for signs of local [nonsystemic] problems." These problems include compressions of the nerves as they leave the spinal cord, caused by tumors, bony malformations or vertebral disks that have slipped out of place. Such compressions cause "local" or "regional" anatomical problems, and they usually can be readily seen on an MRI scan.

Disorders of muscle, such as some late-onset muscular dystrophies, inclusion-body myositis and some metabolic muscle diseases, can overlap with ALS in some of their symptoms. But weakness is generally where the similarity ends. Muscle biopsy studies, DNA tests and electrodiagnostic testing reveal important differences.

Some nervous system disorders, such as spinal-bulbar muscular atrophy (SBMA, or Kennedy’s disease) can sometimes look like ALS, but SBMA doesn’t cause upper motor neuron damage, and it can be tested for in a blood DNA test.

Infectious, Autoimmune or Other Disorders

Infectious diseases like AIDS, Lyme disease and the late stages of syphilis can sometimes affect the nervous system in ways that resemble ALS, but these have other signs. They generally behave like infections, and blood tests for them are usually clearly positive. They have a variety of systemic symptoms not seen in ALS.

Miller says lead and mercury poisoning can also, on occasion, mimic ALS. If the patient gives an occupational history that suggests exposure to these heavy metals, he certainly checks their levels. But, he notes, mercury intoxication usually causes behavioral changes and incoordination, while lead poisoning decreases the number of red blood cells — none of which is characteristic of ALS.

Some autoimmune diseases, in which the immune system mistakenly attacks the body’s own tissues, can be confused with ALS, at least early in the diagnostic workup. The most common source of such confusion, Miller says, is a disease called "multifocal motor neuropathy." In this disorder, the immune system attacks the nerve fibers that run from the spinal cord to the muscles. Specific proteins called anti-GM1 antibodies, made by the immune system to attack the nerve fibers, show up in the blood of MMN patients. They’re almost never seen in ALS.

Miller says there are many disorders that can look like ALS superficially, but they have features that make them different from ALS. It’s important to look for those features, which may not be obvious at first.

On the other hand, says Miller, if a competent neuromuscular specialist has ruled out all likely causes of motor neuron degeneration except ALS, then that’s most likely the right diagnosis. These days, Miller says, he doesn’t see too many mistakes.

"It’s actually more common for patients to be told they have something else when they really have ALS," he says. "Occasionally patients are referred for other problems when they really have ALS. That happens more often than patients who are referred for ALS who turn out not to have it."

A caveat is that the doctor should be "well trained in the diagnosis and treatment of motor neuron disorders," Miller says, adding, "MDA has made it certain that every patient can visit [such a doctor], even if their insurance doesn’t cover it. There are a lot of us that can be sought."

Additional Reading

For detailed discussions of ALS compared to Lyme disease, see "ALS Doesn’t Masquerade as Lyme Disease" (March 2003). For a discussion of SBMA and ALS, see "Mistaken Diagnosis?" (August 1997).

For a more detailed story on diagnosis of neuromuscular diseases, watch for "Rounding Up the Usual Suspects" in the May-June issue of MDA’s magazine Quest.

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ALS Research Roundup

Minocyline Study Slated at 24 Sites

Motor Neuron Minocycline blocks the cell death pathway by keeping the protein cytochrome c inside the motor neuron’s mitochondria and out of the cytoplasm, the cell’s main compartment.

A large-scale trial of the drug minocycline in ALS is recruiting participants at 24 sites across the country.

The drug, an antibiotic related to tetracycline, has been found to interfere with the cell death pathway and to counteract inflammation in mice with ALS. Smaller trials have shown the drug to be apparently safe and have prompted investigators to conduct this phase 3 study.

To participate in the trials, funded by MDA and the National Institutes of Health, you can contact the nearest of these sites by phone or e-mail:

ARIZONA

Scottsdale
Mayo Clinic
Barbara Cleary, Coordinator
(480) 301-3294
cleary.barbara@mayo.edu

CALIFORNIA

Los Angeles
University of California
Linda Sepulveda, Coordinator
(310) 825-9816
lbdesepu@ucla.edu

San Francisco
University of California
Dallas Forshew, Coordinator
(415) 476-7581
forshew@itsa.ucsf.edu
Marni Hillinger, Coordinator
(415) 502-5064
marnih@itsa.ucsf.edu

California Pacific Medical Center
Jason Mass, Coordinator
(415) 923-3967
jmass@cooper.cpmc.org

COLORADO

Denver
University of Colorado Health Sciences Center
(303) 315-7046

DISTRICT OF COLUMBIA

Washington
George Washington University
Joseph Choi, Coordinator
(202) 741-2717
jchoi@mfa.gwu.edu

INDIANA

Indianapolis
Indiana University School of Medicine
Lisa Haas, Coordinator
(317) 630-8456 or 312-2290
lmhaas@iupui.edu

KANSAS

Kansas City
University of Kansas
Mary Martin, Coordinator
(913) 588-0645
mmartin3@kumc.edu

KENTUCKY

Lexington
University of Kentucky
Megan Malley, Coordinator
(859) 233-4511, ext. 4470
memall0@uky.edu
Linda Dempsey-Hall, Coordinator
(859) 233-4511, ext. 5926
ldemp0@uky.edu

MASSACHUSETTS

Boston
Massachusetts General Hospital
Lauren Bradbury, Coordinator
(617) 726-8741
lbradbury@partners.org

MINNESOTA

Minneapolis
Hennepin County Medical Center
Julie Levin and Shirley Conn, Coordinators
(612) 341-7907
jalevin@whi.org

University of Minnesota
Rita Bouley, Coordinator
(612) 624-5978
boule002@tc.umn.edu

MISSOURI

St. Louis
Washington University
Charlie Harper-Wulf, Coordinator
(314) 362-6980
harperc@neuro.wustl.edu

NEW MEXICO

Albuquerque
University of New Mexico
Martha Meister, Coordinator
(505) 272-3342
mmeister@salud.unm.edu

NEW YORK

New York City
Columbia University
Maura Del Bene, Coordinator
(212) 305-5105
bmd9@columbia.edu
Nayra Gad, Coordinator
(212) 305-3985
ng152@columbia.edu

Syracuse
State University of New York
Theresa Conrad, Coordinator
(315) 464-5004
conradtw@upstate.edu
Mark Chilton, Assistant Coordinator
(315) 464-5301
chiltonm@upstate.edu

NORTH CAROLINA

Charlotte
Carolinas Medical Center
Jill Brown, Coordinator
(704) 446-6253
jill.brown@carolinashealthcare.org
Ruth King, Coordinator
(704) 355-8699
ruth.king@carolinashealthcare.org

Winston-Salem
Wake Forest University
Carolyn Ashburn, Coordinator
(336) 716-9056
cashburn@wfubmc.edu
Terrie Walker, Coordinator
twwalker@wfubmc.edu

OREGON

Portland
Oregon Health & Science University
Brian Coakley, Coordinator
(503) 494-4987
coakleyb@ohsu.edu

PENNSYLVANIA

Philadelphia
Drexel University College of Medicine
Hahnemann Campus
Cynthia Cook, Coordinator
(215) 762-5186
c.cook@drexel.edu

TEXAS

Houston
Baylor College of Medicine
Joan Appel, Coordinator
(713) 798-3466
joanew@bcm.tmc.edu

San Antonio
University of Texas Health Science Center
Frieda Barefield, Coordinator
(210) 567-1979
barefield@uthscsa.edu

UTAH

Salt Lake City
University of Utah
Summer Davis, Coordinator
(801) 585-9055
summer.davis@hsc.utah.edu

WASHINGTON

Seattle
Virginia Mason Medical Center
Deborah Cain, Coordinator
(206) 625-7373, ext. 63909
deborah.cain@vmmc.org

Myotrophin Study Ready to Launch

The experimental drug Myotrophin is again being tested at multiple centers. The drug has been studied in ALS since the mid-1990s but has never been approved by the U.S. Food and Drug Administration because of lack of proven effectiveness.

Myotrophin is based on the natural substance insulin-like growth factor 1, which may help preserve muscle or nerve tissue in ALS.

Two earlier clinical trials were conducted by the pharmaceutical company Cephalon of West Chester, Pa., which developed Myotrophin. The new trial is supported by the National Institutes of Health.

Enrollment is set to begin in April or May. Contact study coordinator Sue Paxton at the Mayo Medical Center in Rochester, Minn., at (507) 284-8729 or paxton.susan@mayo.edu.

Multidrug Approach Gains Momentum

With two recent studies showing that certain drug combinations work better than any single drug alone to stave off ALS in mice, enthusiasm for a "cocktail" approach to treating the disease has grown.

And perhaps no one is more enthusiastic than Jeffrey Rosenfeld, director of the MDA/ALS Center at Carolinas Medical Center in Charlotte, N.C., who in February began enrolling participants for a combination drug trial.

Jeffrey Rosenfeld

The rationale behind the cocktail approach, Rosenfeld explained, is that there are probably many triggers for ALS and many processes that lead to the same result — the death of motor neurons. Oxidative stress, inflammation, toxic blasts of the brain chemical glutamate, and defects in the cellular energy factories known as mitochondria have all been implicated in the disease.

A single drug that combats just one of these problems might not show an effect "in a disease where multiple things are happening simultaneously and possibly different things in different patients," he said.

The new mouse studies have provided "momentum" for clinical trials of multidrug therapy for ALS, he said.

One study tested a combination of creatine, a muscle-building dietary supplement, and minocycline, an antibiotic (see "Drug Cocktail," February 2003). Another study found success with a combination of riluzole, minocycline, and nimodipine, a calcium-blocking drug (see "ALS Research Roundup," December 2002).

"The agents tested in the studies might not be the optimal combination, but at least the approach seems justified," Rosenfeld said.

His trial will test a six-drug combination against ALS. He prefers not to name the drugs for fear that people will take them before they’re proven safe.

He conceived the trial years before the current swell of support for the cocktail approach, based on observations that his own ALS patients had such pronounced differences in the onset and progression of their symptoms, he said. With support from MDA, he organized a one-day conference in 2000, bringing about 100 other scientists to Charlotte, where they came up with the six-drug combination.

The trial is seeking 15 participants, and is designed to address the feasibility of such trials and the safety of the six-drug combination. A larger trial is being planned to address efficacy.

For more information, contact trial coordinator Ruth King at (704) 355-8699 or ruth.king@carolinashealthcare.org.

In June, Rosenfeld is scheduled to talk on combination drug trials at MDA’s conference in Tarrytown, N.Y. (see "MDA Conference," March 2003).

Move Over, SOD1...

Mutations in the SOD1 gene, which underlie some 25 percent of familial ALS, are often said to make the SOD1 protein "toxic." Now, a toxic variant of peripherin — a protein that normally helps give neurons their form and function — has been implicated in ALS.

Normally, peripherin and another class of proteins called neurofilaments form a network of cablelike structures that provide support to a neuron and act as a conveyor belt for the transport of nutrients and other cargo (see "Defects in Supply Line,"). But in neurons affected by ALS, neurofilaments and peripherin assemble into disordered clumps, or aggregates.

Per 61, one of three peripherin variants, all encoded by a single gene, could be partly to blame for the aggregates.

In a 1999 study, mice genetically engineered to overproduce all three peripherins developed aggregates in their motor neurons, and ended up with an ALS-like disease.

A new study, led by Janice Robertson of McGill University in Montreal, examined the effects of the three peripherins separately. When injected into laboratory-grown cells, Per 61 formed aggregates, while the other two assembled normally. And when injected into motor neurons Per 61 killed most of the cells within seven days, but the other two peripherins had no effect on survival.

In further experiments, Robertson detected Per 61 in the motor neurons of mice with ALS, and in two out of three people with familial ALS, but not in mice or people without the disease.

"If there were mutations in the peripherin gene or other abnormalities influencing expression of Per 61, then Per 61 could be a primary trigger of motor neuron death," Robertson said. She plans to examine Per 61 expression in cases of sporadic ALS.

Her study was published in the March 17 issue of the Journal of Cell Biology.

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Disappointed With Kelly AFB Study

Dear Editor,

I was disappointed to read "ALS Community Protests Kelly AFB Findings," (February). Please add my name to the list critical of the [Air Force-funded] study and the conclusions.

Specifically:

The study is at best inconclusive. Since the article reports that only civilians working at the base who died with ALS were included in the study, the only acceptable conclusion is that there may be no cluster in this group.

The study apparently assumed a toxin was the sole cause and available to civilians.

The quote attributed to Merit Cudkowicz, "It would have been too difficult and therefore less accurate to study people living with ALS" is preposterous.

The correct hypothesis for any study would be to determine if the incidence rate among all people associated with the base, living or dead, was higher or lower than the national average. Once the incidence rate was established, then a search for a cause would be appropriate. Since ALS is possibly caused by different mechanisms, assuming one mechanism is the cause in a select population that does not reflect the overall population is wrong and faulty science.

I urge MDA to consider an appropriately designed study staffed by competent people that will answer the questions of an existing ALS cluster at the Kelly AFB.

Angelo Sciulli
Lancaster, S.C.

Details on all ALS clinical trials are posted on MDA’s ALS Web site as they become available. From www.als-mda.org, click on "Clinical Trials," and scroll to ALS.

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Social Security Application Process May Be Streamlined for Those With ALS

by Chris Medvescek

John Hunter, a father of two with rapidly progressing ALS, heard a number of "horror stories" about the Social Security approval process before he submitted his application for disability insurance. Still, it came as a shock when his claim was quickly denied and a Social Security clerk admitted it was possible his family would receive death benefits before he ever got a disability check.

John Hunter and family

Now, in response to situations like Hunter’s, the Social Security Administration (SSA) may change the disability determination process so that people with diagnoses of ALS and certain other disabling conditions can automatically be approved for Social Security Disability Insurance (SSDI). This automatic eligibility is called presumptive disability or PD.

Currently, only people applying for Supplemental Security Income (SSI) can get PD coverage, if their disabilities fall into one of 16 categories, including one for "cerebral palsy, muscular dystrophy or muscle atrophy and marked difficulty in walking, speaking or coordination of the hands or arms." Commissioner Jo Anne Barnhart is considering creating a similar set of PD criteria for those applying for SSDI. (SSI is designed to help aged, blind and disabled people with little or no income; SSDI is for people who are "insured," meaning they worked a certain number of years and paid Social Security taxes.)

"Mr. Hunter’s case only highlights the issues related to, and inherent in, the [SSDI] application process," said Donna Sue Bongardt, spokesperson for Martin Gerry, Deputy Commissioner for Disability and Income Security Programs. A formal announcement about changes to the SSDI application process, which have been in the works for some time, will be made "in the near future," she said.

It’s possible some proposed changes may require congressional approval, but Bongardt declined to be specific, calling it a "sensitive issue" at the moment.

Denied, Then Accepted

Hunter, 40, of Litchfield, Ohio, received an ALS diagnosis in late spring of 2002 and rapidly lost the use of both arms and hands. His legs and breathing also were slightly affected and he had to cut back to sporadic part-time work as a job coordinator for an insurance repair company.

Realizing his disease was progressing very quickly, and knowing the glacial pace of many Social Security applications, he asked the office of Rep. Sherrod Brown (D-Ohio) to oversee his claim. He got his reply in a relatively quick 10 weeks — but the answer was no. Apparently, the fact that he was still walking played some part in his rejection.

"I immediately appealed," he said. "They said it’s going to take another four to six months to get an answer on that. That’s when it got real aggravating."

At this point, Hunter’s case got a boost from Duane Pohlman, an investigative reporter for Cleveland television station WEWS. Pohlman was incensed by Hunter’s situation and in November 2002 aired a scathing story called "Dying Man Denied Benefits." Three days later the Hunters got a surprise phone call from the Social Security office saying his application had been approved "based on new medical evidence."

Washington Appeal

Hunter could have stopped there, but now he was mad. "We’re dealing with a fatal disease. Time is a huge factor in the life of a person with ALS." The SSDI approval process should be shorter for all people with ALS, he said.

There’s some precedent for streamlining government benefits for people with ALS. Thanks to a law passed by Congress in 2000, people with ALS who are approved for SSDI can immediately receive Medicare benefits, without having to wait the standard two years required of other applicants.

Hunter and his wife, Jonna, decided to go to Washington, where Pohlman arranged for them to tell their story to members of the Ohio congressional delegation and to Deputy Commissioner Gerry. Pohlman went along with a camera crew to tape the Hunters’ appeal.

Hunter’s congressman, Ralph Regula (R-Ohio), is chairman of the House Ways and Means Committee’s appropriations subcommittee that funds the SSA. As a result of the Hunters’ visit, Regula personally urged Commissioner Barnhart to extend presumptive coverage to people with ALS.

Hunter is philosophical about his advocacy, which ultimately carried to the highest levels of the SSA.

"I’m just a simple person, an average Joe," he said. "We’ve been so blessed by others who are doing things for us. This is an opportunity for me to make a difference for others. I think it keeps me going."

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'David Jayne Amendment' Reintroduced in Senate

The fight goes on. Sen. Susan Collins (R-Maine) has reintroduced a bill in the Senate removing the homebound restriction on people with "permanent and severe conditions" who qualify for Medicare home health care services.

The David Jayne Medicare Homebound Modernization Act of 2003 (S. 598) stipulates that permanently, severely disabled people who meet certain criteria shouldn’t lose their Medicare home health services if they leave home for extended periods.

In 2001, David Jayne, a Georgia man with ALS, began a national movement to amend the homebound restriction, charging that it unfairly imprisons chronically ill people such as those with ALS, Parkinson’s or end-stage Alzheimer’s disease. (See his Web site at www.amendhomeboundpolicy.homestead.com.) Last fall, the Centers for Medicare and Medicaid Services clarified the language of the restriction "to avoid misunderstandings," but Congress failed to pass legislative change.

Collins’ bill, which was referred to the Committee on Finance, was co-sponsored by Sens. Elizabeth Dole (R-N.C.), Zell Miller (D-Ga.), John Kerry (D-Mass.), Arlen Specter (R-Pa.), John McCain (R-Ariz.) and Saxby Chambliss (R-Ga.). On the House side, Rep. Edward Markey (D-Mass.) also plans to reintroduce a "David Jayne" bill this session, according to his office.

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May is ALS Awareness Month

For the 12th year, the nation is set to observe May as ALS Awareness Month.

Of course, for MDA, as the worldwide leader in research and services for those with ALS, every month is ALS Awareness Month.

Sill, MDA will mark the occasion with a new series of video, audio and print public service announcements (PSAs) featuring the theme, "ALS Is Real — Hope Is Real."

The PSAs feature MDA’s ALS Division Chairpersons, Steven and Jennifer Bishop, as well as legendary New York Yankees first baseman Lou Gehrig.

May’s issue of The MDA/ALS Newsletter will carry more news about ALS programs tied to the special month. And the newsletter will continue the ALS Awareness Month tradition of publishing a complete list of MDA/ALS Research & Clinical Centers and a list of ALS-related publications, videos and other MDA resources for those with ALS.

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